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1. Derivation and characterization of two human induced pluripotent stem cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2 disease

Author: Min Liu, Ning Ge, Jianhua Zhang, Meimei Yang, Fan Yang, Janusz Krawczyk, Deirdre Ward, Veronica McInerney, Timothy O'Brien, Sanbing Shen, and Terence Prendiville
Subjects: Biology (General), QH301-705.5
Abstract: Long QT syndrome type 2 (LQT2) is associated with KCNH2, which encodes the α subunit of the ion channel that controls the K+ current in the heart. Mutations of KCNH2 cause loss of Kv11.1 channel function by disrupting subunit folding, assembly, or trafficking of the channel to the cell surface. Here we generated two induced pluripotent stem cell (iPSC) lines from two patients carrying mutation in KCNH2 gene. These iPSCs express the pluripotent markers and have the capacity of differentiation into other cell types. These patient-derived iPSCs are useful for investigating the disease pathology and identifying the therapeutic target.
Published: 2021
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2. Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant

Author: Ning Ge, Min Liu, Janusz Krawczyk, Veronica McInerney, Deirdre Ward, Sanbing Shen, Timothy O'Brien, and Terence Prendiville
Subjects: Biology (General), QH301-705.5
Abstract: Long QT syndrome (LQTS), an inherited cardiac ion channelopathy, is associated with ventricular arrhythmias and risk of sudden death. LQTS sub-type 2 (LQT2) is caused by pathogenic variants in KCNH2 encoding the α-subunit of Kv11.1, thus affecting the rapid component of delayed rectifier K+ current (IKr) channel during the action potential. In this study, non-integrational Sendai reprogramming method was used to generate an induced-pluripotent-stem-cell (iPSC) line carrying the KCNH2 c.2464G>A (p.Val822Met) pathogenic variant from a LQT2 patient. This patient-specific iPSC line NUIGi003-A harbouring the c.2464G>A variant expressed pluripotency markers and demonstrated the differentiation potential to all three germ layers.
Published: 2020
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3. Implantable loop recorders in Brugada syndrome: Authors’ reply

Author: Christopher Balfe, Rory Durand, Derek Crinion, Deirdre Ward, and Richard Sheahan
Subjects: Physiology (medical), Cardiology and Cardiovascular Medicine
Published: 2022

4. A report from the Irish women in cardiology survey, exploring Europe's largest gender gap in cardiology

Author: Bethany Wong, Alice Brennan, Stephanie James, Lisa Brandon, Deepti Ranganathan, Barbra Dalton, Ken McDonald, and Deirdre Ward
Abstract: Aims In Ireland, 8% of public cardiology consultants are female; this is the lowest proportion in Europe. We sought to understand perceptions amongst Irish trainees and consultants regarding aspects of working in cardiology in order to identify areas that can be targeted to improve gender equality. Methods and Results In September 2021, the Irish Cardiac Society distributed a questionnaire to trainees and consultants in the Republic and Northern Ireland. Ethical approval was obtained from the University College Dublin, Ireland. There were 94 respondents (50% male, 50% consultants) which equates to ∼30% of all trainees and consultants in all Ireland. Although females were more likely to be single, overall, they had additional child-care responsibilities compared with male counterparts. Despite 53% of the respondents preferring to work less than full time, 64% reported a perceived lack of support from their departments. Males were significantly more likely to go into procedural/high radiation sub-specialities. Bullying was reported by 53% of females. Almost 80% of females experienced sexism and 30% reported being overlooked for professional advancement based on their sex. Females also rated their career prospects lower than males. Key challenges for women were: sexism, maternity leave/child-care responsibilities, cardiology as a ‘boys club’ and lack of flexible training. There was interest from both males and females in a mentorship programme and support for women in leadership positions. Conclusion Discrimination including sexism, bullying, and equal opportunity for professional advancement are key aspects that need to be addressed to improve gender balance in cardiology within Ireland and Northern Ireland.
Published: 2022

5. Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic

Author: Sinéad M. Murphy, Petya Bogdanova-Mihaylova, Deirdre Ward, Sharon Moran, Richard A. Walsh, Michael F. Murphy, and Josephine Hebert
Subjects: Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Ataxia, Neurology, medicine.diagnostic_test, Cerebellar ataxia, business.industry, 05 social sciences, medicine.disease, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Ataxia-telangiectasia, Medicine, 0501 psychology and cognitive sciences, Neurology (clinical), medicine.symptom, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Exome sequencing, Genetic testing
Abstract: Establishing a molecular diagnosis in patients with progressive ataxia is often challenging due to significant genetic and clinical heterogeneity and requires a methodical approach with expert clinical evaluation and investigations. We describe the 5-year experience of the National Ataxia Clinic (NAC), Ireland. All adults with ataxia attending the NAC between 2014 and 2019 were evaluated. All individuals underwent detailed clinical assessment and investigations including, where appropriate, genetic testing using next-generation sequencing. For all patients, acquired causes were ruled out. A total of 254 patients from 196 families were assessed; with growth of the clinic cohort by 82% from 133 to 242 over the 5-year period. The underlying genetic cause was identified in 128/196 probands (65.3%). The detection rate for repeat expansion disorder gene testing was 47.7% (82/172) and using NGS gene panel, a genetic diagnosis was obtained in 30/84 (35.7%). Whole exome sequencing identified the molecular diagnosis in 4/20 (20%), and whole genome sequencing provided genetic diagnosis in 1/5 (20%). The commonest diagnosis was Friedreich's ataxia (68/128, 53.1%). SPG7-associated ataxia was the second most common diagnosis (21/128, 16.4%), followed by ANO10-associated spastic ataxia, ataxia telangiectasia (AT), and other rarer phenotypes. Our results highlight that careful clinical phenotyping in a dedicated ataxia clinic is crucial for appropriate genetic testing in selected patients in a timely manner. Advanced genetic testing has significantly improved the diagnostic yield in patients with suspected genetic ataxia and should be considered in all individuals with negative repeat expansion testing.
Published: 2020

6. Diagnostic yield from cardiac gene panel testing for inherited cardiac conditions in a large Irish cohort

Author: Deirdre Ward, Joseph Galvin, Sally Ann Lynch, C W Kirk, J M Murphy, and T Prendiville
Subjects: medicine.medical_specialty, Irish, business.industry, Internal medicine, Gene panel, Yield (finance), Cohort, medicine, language, Cardiology and Cardiovascular Medicine, business, language.human_language
Abstract: Background Inherited cardiomyopathies (hypertrophic, dilated and arrhythmogenic) and cardiac ion channelopathies (long QT, Brugada and CPVT) predispose to sudden cardiac death/sudden arrhythmic death syndrome. Given their genetically heterogenous nature, multi-gene DNA sequencing panels are useful to aid genetic diagnosis. Purpose Investigate the diagnostic yield from cardiac gene panel testing undertaken in patients (including molecular autopsy in deceased patients) referred to four clinical services from 2002 to 2020. Methods Data was collected by interrogation of departmental databases, family charts, and review of molecular genetic diagnostic reports. Results We evaluated molecular genetic diagnostic results from 835 individuals (461 males, 374 females) from 824 families, including 58 deceased patients who underwent molecular autopsy. The median age of the cohort was 44 years (range 0.1–86 years). Testing for hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQT) genes represented 36% and 32% of the cohort, respectively, with the remaining 32% accounting for other cardiomyopathies, arrhythmia syndromes or metabolic/syndromic diseases. The overall variant detection rate was 50% across all panel types. Three hundred and fifty patients (42%) carried a single variant, 68 patients (8%) carried multiple variants (up to a maximum of four), including two individuals who carried two actionable (pathogenic/likely pathogenic) variants each and 30 individuals (5%) with one actionable variant plus a variant of uncertain significance (VUS). The overall diagnostic yield of at least one actionable variant was 28%. At least one VUS was detected in 27% of the cohort. Molecular autopsy yielded an actionable variant in 10% of patients, while 30% of the subcohort carried at least one VUS (up to maximum of two). We found a positive association between female sex and the likelihood of detecting an actionable variant. By decade of age, detection of actionable variants ranged from 19% (60–69 years) to 41% (0–9 years). By panel type, actionable variants ranged from 14% (Brugada) to 35% (cardiomyopathy). The burden of VUS ranged from 22% (LQT) to 46% (dilated cardiomyopathy). Altogether 234 actionable variants were detected in 26 genes, including seven metabolic or syndromic disease genes. From those with non-metabolic/syndromic forms of disease, 84% of actionable variants were detected in well established ICC genes. Analysis of gene-disease associations for VUS detected from HCM and LQT panels revealed that 10–25% were detected in genes now deemed to have only moderate or limited evidence of disease causation. Conclusion Most actionable variants in this cohort were detected in well-established ICC genes, suggesting that large gene panels offer little extra sensitivity compared to historic smaller gene panels. Despite recent gene curation efforts, the high burden of VUS remains a considerable challenge in ICC management. Funding Acknowledgement Type of funding sources: Foundation. Main funding source(s): National Children's Research Centre
Published: 2021

7. 4 Predictive genetic testing in inherited cardiac conditions: findings from a large Irish cohort

Author: Deirdre Ward, Catherine McGorrian, J M Murphy, Terence Prendiville, C W Kirk, Sally Ann Lynch, Joseph Galvin, and G Abboud Guerra
Subjects: Irish, medicine.diagnostic_test, business.industry, Cohort, language, medicine, business, language.human_language, Demography, Genetic testing
Published: 2021

8. The evidence for the implantable loop recorder in patients with inherited arrhythmia syndromes: a review of the literature

Author: Christopher Balfe, Rory Durand, Derek Crinion, Richard Sheahan, and Deirdre Ward
Subjects: medicine.medical_specialty, biology, business.industry, Syncope (genus), Arrhythmias, Cardiac, Prostheses and Implants, Syndrome, biology.organism_classification, Arrhythmic death, medicine.disease, Syncope, Sudden cardiac death, Death, Sudden, Cardiac, Physiology (medical), Internal medicine, Risk stratification, Implantable loop recorder, Cardiology, Electrocardiography, Ambulatory, Medicine, Humans, In patient, Cardiology and Cardiovascular Medicine, business
Abstract: Risk stratification of patients with inherited arrhythmia syndromes (IASs) can be challenging. Recent guidelines acknowledge a place for considering the implantable loop recorder (ILR) to outrule malignant arrhythmia as a cause of syncope in certain inherited arrhythmia patients who are at low risk of sudden cardiac death. In this comprehensive literature review, we evaluate the available evidence for the use of the ILR in the IASs and in relatives of victims of sudden arrhythmic death syndrome.
Published: 2021

9. Long QT Syndrome: Genetics and Future Perspective

Author: Linda Howard, Deirdre Ward, Terence Prendiville, Sanbing Shen, Eimear Wallace, Min Liu, and Timothy O'Brien
Subjects: Long QT syndrome, Heart Ventricles, Induced Pluripotent Stem Cells, Review Article, 030204 cardiovascular system & hematology, Arrhythmias, Gene editing, Bioinformatics, QT interval, Sudden death, Ventricular action potential, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Genome editing, Channelopathy, Medicine, CRISPR, Repolarization, Humans, Myocytes, Cardiac, cardiovascular diseases, CRISPR–Cas systems, business.industry, medicine.disease, Long QT Syndrome, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Mutation, Cardiology and Cardiovascular Medicine, business, Cardiac
Abstract: Long QT syndrome (LQTS) is an inherited primary arrhythmia syndrome that may present with malignant arrhythmia and, rarely, risk of sudden death. The clinical symptoms include palpitations, syncope, and anoxic seizures secondary to ventricular arrhythmia, classically torsade de pointes. This predisposition to malignant arrhythmia is from a cardiac ion channelopathy that results in delayed repolarization of the cardiomyocyte action potential. The QT interval on the surface electrocardiogram is a summation of the individual cellular ventricular action potential durations, and hence is a surrogate marker of the abnormal cellular membrane repolarization. Severely affected phenotypes administered current standard of care therapies may not be fully protected from the occurrence of cardiac arrhythmias. There are 17 different subtypes of LQTS associated with monogenic mutations of 15 autosomal dominant genes. It is now possible to model the various LQTS phenotypes through the generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes. RNA interference can silence or suppress the expression of mutant genes. Thus, RNA interference can be a potential therapeutic intervention that may be employed in LQTS to knock out mutant mRNAs which code for the defective proteins. CRISPR/Cas9 is a genome editing technology that offers great potential in elucidating gene function and a potential therapeutic strategy for monogenic disease. Further studies are required to determine whether CRISPR/Cas9 can be employed as an efficacious and safe rescue of the LQTS phenotype. Current progress has raised opportunities to generate in vitro human cardiomyocyte models for drug screening and to explore gene therapy through genome editing.
Published: 2019

10. Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464GA pathogenic variant

Author: Terence Prendiville, Sanbing Shen, Veronica McInerney, Timothy O'Brien, Janusz Krawczyk, Ning Ge, Deirdre Ward, and Min Liu
Subjects: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, ERG1 Potassium Channel, Long QT syndrome, Induced Pluripotent Stem Cells, Germ layer, Biology, Sudden death, 03 medical and health sciences, 0302 clinical medicine, Channelopathy, medicine, Humans, Myocytes, Cardiac, Induced pluripotent stem cell, lcsh:QH301-705.5, Arrhythmias, Cardiac, Cell Biology, General Medicine, medicine.disease, 3. Good health, Long QT Syndrome, 030104 developmental biology, Delayed rectifier, lcsh:Biology (General), Mutation, Cancer research, Reprogramming, Ipsc line, 030217 neurology & neurosurgery, Developmental Biology
Abstract: Long QT syndrome (LQTS), an inherited cardiac ion channelopathy, is associated with ventricular arrhythmias and risk of sudden death. LQTS sub-type 2 (LQT2) is caused by pathogenic variants in KCNH2 encoding the α-subunit of Kv11.1, thus affecting the rapid component of delayed rectifier K+ current (IKr) channel during the action potential. In this study, non-integrational Sendai reprogramming method was used to generate an induced-pluripotent-stem-cell (iPSC) line carrying the KCNH2 c.2464G>A (p.Val822Met) pathogenic variant from a LQT2 patient. This patient-specific iPSC line NUIGi003-A harbouring the c.2464G>A variant expressed pluripotency markers and demonstrated the differentiation potential to all three germ layers.
Published: 2020

11. 33 Sudden cardiac death and inherited premature conduction disease – potential role for implantable loop recorder in screening?

Author: C Honner, L Murphy, H Connaughton, Z Sharif, Deirdre Ward, Andrew Green, and K Al-Harbi
Subjects: Bradycardia, medicine.medical_specialty, business.industry, medicine.disease, Penetrance, Sudden cardiac death, Internal medicine, Cardiac conduction, Implantable loop recorder, medicine, Cardiology, Clinical significance, Family history, medicine.symptom, Prospective cohort study, business
Abstract: Background Cardiac conduction disease (CCD) is a potentially fatal entity. The spectrum ranges from a benign clinical course to severe dysfunction, which may precipitate sudden cardiac death. Permanent pacemaker (PPM) implant may benefit affected individuals but the genetic basis of CCD may be underestimated. No prior study has investigated the utility of screening relatives of victims of Sudden Arrhythmic Death Syndrome (SADS) with implantable loop recorders (ILR). Methods We describe 7 families referred to our inherited cardiac conditions service with a family history of SADS, in whom we identified premature CCD. ILR was utilized in screening the majority of families. Results Of 63 individuals screened, 31 (49%) had ILR insertion with 7 (11%) requiring PPM implant. 2/31 had normal baseline tests, and were identified only after ILR implant. Other CCD not yet meeting clinical significance was detected in 10/31 (32%) individuals. These findings (documented 11 to 330 days post implant) included pauses of 3–5.8 seconds (n=7), nocturnal bradycardia Conclusions Inherited premature CCD with variable penetrance and dynamic clinical manifestation may be an under-recognized cause of SADS. To date 12/31 (39%) of individuals with ILR have findings suggesting inherited CCD. As inheritance pattern suggests autosomal dominant transmission, longer follow up may identify more affected individuals. Clinicians involved in SADS family evaluations should consider adding ILR implantation to routine assessment to improve diagnostic yield. We suggest a larger prospective study of consecutive families whose initial investigations following a SADS death have not identified a cause.
Published: 2019

12. 8 Inherited cardiac conditions clinics in ireland: a ten year review

Author: Deirdre Ward, Catherine McGorrian, T Prenderville, J Keaney, D Crinion, J O’ Brien, Z Sharif, Joseph Galvin, Andrew Green, and Nial Mahon
Subjects: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Pathogenic mutation, University hospital, Family medicine, Cohort, medicine, Medical genetics, Medical diagnosis, Cardiac risk, business, Cardiac deaths, Genetic testing
Abstract: Introduction Inherited Cardiac Conditions (ICCs) have previously been shown to account for the majority of sudden cardiac deaths in the young in Ireland. It is recommended that those affected by ICCs are referred to specialised clinics that incorporate cardiology and clinical genetics. Emulating international models, two such ICCs clinics were established in Ireland approximately ten years ago. Together they accept referrals from all regions of the country. A review of these clinics will therefore provide an estimate of the number of families affected by ICCs in Ireland. This study will also elucidate the proportion of genetic testing and the spectrum of pathogenic mutations. Methods The Family Heart Screening Clinic (FHSC) at the Mater University Hospital and the Cardiac Risk in the Young (CRY) unit at Tallaght University Hospital, are the only adult ICCs clinics in Ireland. These collaborate with National Centre of Medical Genetics and Health-in-code based in A Coruna, Spain. This study reviewed all families that attended since the clinics’ foundation in 2007 until November 2017. ICCs diagnostic criteria and Sudden Adult Death Syndrome (SADS) family screening protocols as published previously. Results A total of 10,118 patients, comprising 4,319 families, of which 2,170 (50.2%) met criteria for an ICC or SADS. An overview of the family diagnoses is provided by figure 1. Genetic testing was performed in 39% of families. A breakdown of genetic testing for cardiomyopathies and channelopathies is included in tables 1 and 2. SADS family screening was positive in 21%, results as per figure 2. Molecular autopsy was performed in only 4% (18/406 ), with a pathogenic mutation identified in 5 cases (2 RYR2, 1 SNC5A, 2 ANK-2). Conclusions This ten year review provides an estimate of the prevalence and spectrum of ICCs in Ireland. Expansion of the project to include other cardiology clinics which manage such conditions would further improve accuracy. Greater utilization of genetic testing, particularly molecular autopsy is required. The yield of genetic testing for LQTS and HCM is significantly lower than widely purported figures. A higher preponderance of MYBPC3 for HCM and LMNA for DCM was observed in this Irish cohort. Rare aetiologies of note include LAMP2 and PRKAG2. SADS family screening was positive in 21%.
Published: 2019

13. Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy

Author: Maria Teresa Tome Esteban, Deirdre Ward, Perry M. Elliott, Camillo Autore, William J. McKenna, Massimo Volpe, Antonios Pantazis, and Giovanni Quarta
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, Heart disease, Sudden death, Right ventricular cardiomyopathy, Electrocardiography, Young Adult, QRS complex, Recurrence, Internal medicine, medicine, Humans, In patient, cardiovascular diseases, Arrhythmogenic Right Ventricular Dysplasia, Aged, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Defibrillators, Implantable, Arrhythmogenic right ventricular dysplasia, Mutation, Circulatory system, Catheter Ablation, Tachycardia, Ventricular, Cardiology, Female, Cardiology and Cardiovascular Medicine, business
Abstract: Background and objectives Electrocardiographic (ECG) abnormalities of depolarisation and repolarisation contribute to the diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC). The development of diagnostic ECG features were investigated in a genotyped cohort with ARVC to provide more sensitive markers of early disease. Methods T-wave inversion (TWI) in right precordial leads, epsilon waves, localised QRS prolongation greater than 110 ms in V1–V3 and QRS dispersion greater than 40 ms were analysed from 317 ECG from 68 genotyped patients (34 with disease-causing mutations) during follow-up of 34±28 months. Results 16 patients (23%) had changes during follow-up, with the appearance of new ECG abnormalities in seven (10%) and dynamic changes in nine (13%). Four developed new and persistent TWI and eight had dynamic TWI in right precordial leads. Three developed new and another three had dynamic epsilon waves. No changes were observed in 10 with and 58 patients without localised QRS prolongation and in six patients with and 61 without QRS dispersion greater than 40 ms. An additional patient with QRS dispersion at baseline had normal depolarisation dispersion during follow-up. None of the nine ARVC patients with dynamic ECG changes had major structural or functional right ventricular abnormalities, suggesting an early stage of the disease. Conclusions New or dynamic ECG changes were observed in 23%. This underscores the importance of serial ECG in the diagnosis of individuals at risk of ARVC, in whom potentially lethal arrhythmia may develop before major abnormalities are detectable with conventional imaging.
Published: 2010

14. Left-Dominant Arrhythmogenic Cardiomyopathy

Author: Robert Merrifield, Sanjay K Prasad, Siân E Hughes, Petros Syrris, Dudley J. Pennell, Deirdre Ward, Srijita Sen-Chowdhry, and William J. McKenna
Subjects: medicine.medical_specialty, Myocarditis, Heart disease, business.industry, Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, medicine.disease, Ventricular tachycardia, Right ventricular cardiomyopathy, Internal medicine, Heart failure, cardiovascular system, medicine, Cardiology, cardiovascular diseases, Cardiology and Cardiovascular Medicine, business
Abstract: Objectives We sought to investigate the clinical-genetic profile of left-dominant arrhythmogenic cardiomyopathy (LDAC). Background In the absence of coronary disease and left ventricular (LV) systolic dysfunction, lateral T-wave inversion and arrhythmia of LV origin are often considered benign. Similarly, chest pain with enzyme release might be attributed to viral myocarditis. We hypothesized that these abnormalities might be manifestations of the “left-dominant” subtype of arrhythmogenic right ventricular cardiomyopathy. Methods The 42-patient cohort was established through clinical evaluation of individuals with unexplained (infero)lateral T-wave inversion, arrhythmia of LV origin, and/or proven LDAC/idiopathic myocardial fibrosis in the family. Results Patients presented from adolescence to age >80 years with arrhythmia or chest pain but not heart failure. Desmosomal mutations were identified in 8 of 24 families (15 of 33 patients). Magnetic resonance findings included LV late-enhancement in a subepicardial/midwall distribution, corresponding to fibrofatty replacement and fibrosis on histopathology. Fifty percent had previously been misdiagnosed with viral myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, or idiopathic ventricular tachycardia. Arrhythmic events included presentation with ventricular fibrillatory arrest in 1 patient and 2 instances of sudden cardiac death during follow-up. Conclusions Arrhythmogenic cardiomyopathy is distinguished from DCM by a propensity towards arrhythmia exceeding the degree of ventricular dysfunction. The left-dominant subtype is under-recognized owing to misattribution to other disorders and lack of specific diagnostic criteria. Clinicians are alerted to the possibility of LDAC in patients of any age with unexplained arrhythmia of LV origin, (infero)lateral T-wave inversion, apparent DCM (with arrhythmic presentation), or myocarditis (chest pain and enzyme rise with unobstructed coronary arteries).
Published: 2008

15. Asymmetric Dimethylarginine Independently Predicts Fatal and Nonfatal Myocardial Infarction and Stroke in Women

Author: Dimitri Edin Zylberstein, Deirdre Ward, Jane Fogarty, Dag S. Thelle, Lauren Lissner, Ian D. Graham, Calle Bengtsson, Tora Leong, and Cecilia Björkelund
Subjects: Adult, medicine.medical_specialty, Homocysteine, Myocardial Infarction, Renal function, Arginine, Cohort Studies, chemistry.chemical_compound, Predictive Value of Tests, Risk Factors, Internal medicine, medicine, Humans, Longitudinal Studies, Prospective Studies, Proportional Hazards Models, Sweden, Framingham Risk Score, business.industry, Middle Aged, Prognosis, Stroke, Endocrinology, chemistry, Relative risk, Attributable risk, Cohort, Cardiology, Population study, Female, Cardiology and Cardiovascular Medicine, Asymmetric dimethylarginine, business, Biomarkers, Follow-Up Studies
Abstract: Objective— Asymmetrical dimethylarginine (ADMA) reduces nitric oxide by inhibiting nitric oxide synthase is associated with cardiovascular disease (CVD). Our study examined the association of ADMA with CVD prospectively in a healthy population-based cohort of women. Methods and Results— We measured baseline ADMA of 880 women in the Population Study of Women in Gothenburg using high-performance liquid chromatography. After adjustment for traditional risk factors, creatinine clearance, and homocysteine using Cox models, the HR (95% CI in parentheses) of CVD end points at 24 years for a 0.15 μmol/L (1 SD) increase in ADMA were: all-cause mortality 1.12 (0.96, 1.32), fatal CVD 1.30 (1.04, 1.62), total CVD events 1.29 (1.09, 1.53). The top quintile (ADMA ≥0.71 μmol/L) compared with the bottom four-fifths, conferred a cumulative risk 22 versus 14%, relative risk 1.75 (95% CI 1.18, 2.59) and population attributable risk 12.7% of total CVD events, and further identified individuals who are at higher than expected risk based on the SCORE and Framingham systems. Conclusions— A 0.15 μmol/L increase in baseline ADMA levels is associated with approximately 30% increase in incident cardiovascular risk at 24 years in women after adjustment. ADMA levels ≥0.71 μmol/L enhances CVD risk assessment in women.
Published: 2008

16. Clinical and Genetic Characterization of Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Provides Novel Insights Into Patterns of Disease Expression

Author: Elias Sevdalis, William J. McKenna, Angeliki Asimaki, Petros Syrris, Srijita Sen-Chowdhry, and Deirdre Ward
Subjects: Male, Heart disease, DNA Mutational Analysis, Cardiomyopathy, Disease, Cohort Studies, Electrocardiography, Medicine, Child, Arrhythmogenic Right Ventricular Dysplasia, education.field_of_study, Desmoglein 2, medicine.diagnostic_test, Desmosomes, Middle Aged, Magnetic Resonance Imaging, Arrhythmogenic right ventricular dysplasia, Phenotype, Codon, Nonsense, Heart Function Tests, Disease Progression, Cardiology, Female, Cardiology and Cardiovascular Medicine, Sports, Adult, medicine.medical_specialty, Adolescent, Genotype, Population, Mutation, Missense, Sudden death, Genetic Heterogeneity, Physiology (medical), Internal medicine, Humans, education, Aged, Desmocollins, DSC2, business.industry, Myocardium, medicine.disease, Desmoplakins, Mutation, Physical Endurance, gamma Catenin, business, Plakophilins
Abstract: Background— According to clinical-pathological correlation studies, the natural history of arrhythmogenic right ventricular dysplasia/cardiomyopathy is purported to progress from localized to global right ventricular dysfunction, followed by left ventricular (LV) involvement and biventricular pump failure. The inevitable focus on sudden death victims and transplant recipients may, however, have created a skewed perspective of a genetic disease. We hypothesized that unbiased representation of the spectrum of disease expression in arrhythmogenic right ventricular dysplasia/cardiomyopathy would require in vivo assessment of families in a genetically heterogeneous population. Methods and Results— A cohort of 200 probands and relatives satisfying task force or modified diagnostic criteria for arrhythmogenic right ventricular dysplasia/cardiomyopathy underwent comprehensive clinical evaluation. Desmosomal mutations were identified in 39 individuals from 20 different families. Indices of structural severity correlated with advancing age and were increased in long-term endurance athletes. Fulfillment of modified criteria indicated phenotypically mild disease, whereas asymptomatic status did not. In >80%, ECG, rhythm monitoring, and/or gadolinium-enhanced cardiovascular magnetic resonance were suggestive of LV involvement, the extent of which often was marked among individuals with chain-termination mutations and/or desmoplakin disease. Three patterns of disease expression were identified: (1) classic , with isolated right ventricular disease or LV involvement in association with significant right ventricular impairment; (2) left dominant , with early and prominent LV manifestations and relatively mild right-sided disease; and (3) biventricular , characterized by parallel involvement of both ventricles. Conclusions— LV involvement in arrhythmogenic right ventricular dysplasia/cardiomyopathy may precede the onset of significant right ventricular dysfunction. Recognition of disease variants with early and/or predominant LV involvement supports adoption of the broader term arrhythmogenic cardiomyopathy.
Published: 2007

17. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

Author: Alison Evans, Estelle Gandjbakhch, William J. McKenna, Srijita Sen-Chowdhry, Deirdre Ward, Petros Syrris, and Angeliki Asimaki
Subjects: Male, Pathology, medicine.medical_specialty, Cardiomyopathy, Plakoglobin, Desmoglein-2, Biology, Sudden death, Electrocardiography, Desmosome, Report, medicine, Genetics, Humans, Genetics(clinical), Frameshift Mutation, Arrhythmogenic Right Ventricular Dysplasia, Genetics (clinical), DNA Primers, Sequence Deletion, Desmocollins, DSC2, Base Sequence, Desmoplakin, DNA, Desmosomes, medicine.disease, Pedigree, Arrhythmogenic right ventricular dysplasia, medicine.anatomical_structure, Codon, Nonsense, Mutation, biology.protein, Female
Abstract: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death. To date, mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C. We screened 77 probands with ARVD/C for mutations in desmocollin-2 (DSC2), a gene coding for a desmosomal cadherin. Two heterozygous mutations--a deletion and an insertion--were identified in four probands. Both mutations result in frameshifts and premature truncation of the desmocollin-2 protein. For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome.
Published: 2006
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18. Cardiovascular Magnetic Resonance in Arrhythmogenic Right Ventricular Cardiomyopathy Revisited

Author: David N. Firmin, Ricardo Wage, Deirdre Ward, Srijita Sen-Chowdhry, William J. McKenna, Robert Merrifield, Petros Syrris, Dudley J. Pennell, Sanjay K Prasad, and Gillian C. Smith
Subjects: medicine.medical_specialty, medicine.diagnostic_test, Heart disease, business.industry, Magnetic resonance imaging, medicine.disease, Right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, medicine.anatomical_structure, Ventricle, Internal medicine, Genotype, cardiovascular system, medicine, Cardiology, False positive paradox, cardiovascular diseases, Cardiology and Cardiovascular Medicine, Nuclear medicine, business, Prospective cohort study
Abstract: OBJECTIVES We sought to assess the utility of cardiovascular magnetic resonance (CMR) in the evaluation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in relation to diagnostic criteria and genotype. BACKGROUND Timely diagnosis of ARVC is difficult as clinical findings may be subtle and nonspecific in early disease. The role of CMR is controversial owing to the absence of a standardized protocol, insufficient experience with the modality, and inherent difficulties in imaging the right ventricle. METHODS Comprehensive CMR examination was performed in 232 patients undergoing evaluation for suspected ARVC. CMR outcomes were compared with: 1) prospective clinical diagnosis using Task Force guidelines, with and without the proposed modifications for familial ARVC; and 2) gene-carrier status in 35 individuals from genotyped families. RESULTS CMR studies were positive in all 64 patients who prospectively fulfilled Task Force criteria, resulting in 100% sensitivity. Specificity in relation to Task Force criteria was low (29%). Of the 119 apparent false positives detected by CMR, however, 63 fulfilled modified diagnostic criteria for familial ARVC and 7 were obligate gene carriers, suggesting that CMR frequently identifies individuals with early disease, in whom Task Force criteria are relatively insensitive. This was borne out by evaluation of genotyped individuals (26 gene-positive and 9 gene-negative), in whom CMR had a sensitivity of 96% and a specificity of 78%. CONCLUSIONS CMR is a valuable component of the diagnostic workup for ARVC when performed with a dedicated protocol by specialists with experience in analysis of volumes, right ventricular wall motion, and delayed-enhancement imaging.
Published: 2006

19. Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy

Author: María Teresa Tomé, Juan R. Gimeno, Rajesh Thaman, Perry M. Elliott, JS Shah, J Mogensen, William J. McKenna, and Deirdre Ward
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, Vasodilator Agents, Cardiomyopathy, Amiodarone, Ventricular outflow tract obstruction, Asymptomatic, Sudden death, Ventricular Outflow Obstruction, Risk Factors, Internal medicine, Humans, Medicine, Risk factor, Survival analysis, Aged, Aged, 80 and over, business.industry, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Survival Analysis, Transplantation, Death, Sudden, Cardiac, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business
Abstract: Aims Left ventricular outflow tract obstruction (LVOTO) is associated with reduced survival in patients with hypertrophic cardiomyopathy (HCM). The influence of LVOTO on survival from SD in relation to other recognized clinical risk markers is unknown. Methods and results A total of 917 patients with HCM (554 males, 43±15 years) were studied; 288 (31.4%) had LVOTO at rest (≥30 mmHg). During follow-up [median 61 (30;99) months], 54 (5.9%) patients died suddenly (SD), survived ventricular fibrillation, or had an appropriate ICD discharge; 25 (2.7%) died from heart failure or were transplanted; 17 (1.8%) died from other cardiovascular causes. Five-year survival from all-cause death or cardiac transplantation was lower in patients with LVOTO [86.5% (95% CI: 81.7–91.2) vs. 90.1% (95% CI: 87.3–92.8), P =0.006], with a trend towards higher all-cause death and transplantation with increasing LVOTO [(RR per 20 mmHg=1.24 (95% CI: 1.08–1.42), P =0.003)]. In patients with obstruction, there was a significant relation between 5-year survival from all-cause death and functional limitation (NYHA class I: 91.0%; NYHA class II: 83.3%; NYHA class III/IV: 82.6%, P =0.002). LVOTO was associated with reduced survival from SD and ICD discharge (SD/ICD) [91.4% (95% CI: 87.4–95.3) vs. 95.7% (95% CI: 93.8–97.6), P =0.0004]. Magnitude of LVOTO was related to a higher occurrence of SD/ICD [RR per 20 mmHg=1.36 (95% CI: 1.12–1.65), P =0.001]. There was no relation between survival from SD/ICD, LVOTO, and NYHA class. The annual rate of SD/ICD in patients with LVOTO and no risk factors was 0.37% (95%CI: 0.05–1.35). There was a trend towards lower survival from SD/ICD, with increasing numbers of risk factors in patients with and without LVOTO ( P =0.002 and P =0.002, respectively). Multivariable analysis demonstrated that LVOTO was an independent predictor of SD/ICD, with a 2.4-fold ( P =0.003) increase in the risk of SD/ICD. Conclusion LVOTO is associated with an increased risk of SD/ICD that is related to the severity of obstruction and the presence of other recognized risk factors for SD. The low sudden death mortality in asymptomatic patients with LVOTO and no other SD risk markers suggests that aggressive interventions to reduce LVOTO are unwarranted in this group. Further studies are required to determine the most appropriate treatment strategies (ICD or gradient reduction) in patients with additional risk factors.
Published: 2006

20. Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease

Author: Deirdre Ward, B Sachdev, Philip J. Lee, Derralynn Hughes, Maite Tome, Atul Mehta, Perry M. Elliott, and JS Shah
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, Heart disease, Cardiomyopathy, Left ventricular hypertrophy, Ventricular tachycardia, Electrocardiography, Internal medicine, Prevalence, medicine, Humans, Clinical significance, Aged, Aged, 80 and over, medicine.diagnostic_test, business.industry, Cardiac arrhythmia, Arrhythmias, Cardiac, Middle Aged, medicine.disease, Fabry disease, Logistic Models, Echocardiography, Cardiology, Fabry Disease, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme alpha-galactosidase A. More than 60% of patients with AFD have evidence for cardiac involvement; the prevalence and clinical significance of arrhythmia in AFD are unknown. Seventy-eight consecutive patients (mean age 43.5 +/- 15.0 years, range 13.0 to 83.0; 43 men) with AFD were studied for 1.9 years (range 0.25 to 10). All patients underwent clinical evaluation, 12-lead electrocardiography, and echocardiography. Sixty patients (76.9%) underwent 24-hour ambulatory electrocardiographic monitoring. Persistent atrial fibrillation (AF) was present in 3 of 78 patients (3.9%); 8 (13.3%) had paroxysmal AF, and 5 (8.3%) had nonsustained ventricular tachycardia (VT). Patients with nonsustained VT were all men, with a maximal left ventricular (LV) wall thickness20 mm. Age (p0.001), left atrial diameter (p = 0.001), maximal LV wall thickness (p = 0.003), LV mass index (p = 0.009), and angina (p = 0.02) were univariate predictors of AF or paroxysmal AF. Using these predictors in a stepwise logistic regression analysis model, age was the only independent predictor of AF or paroxysmal AF (odds ratio 1.2, 95% confidence interval 1.1 to 1.3, p = 0.001). During follow-up, there was 1 sudden cardiac death, 4 patients received pacemakers for bradyarrhythmia, and 1 received a biventricular pacemaker and an internal cardioverter defibrillator. In conclusion, arrhythmias are common in older patients with AFD. The high incidence of pacemaker implantation and sudden cardiac death suggests that arrhythmia has a significant impact on the natural history of AFD.
Published: 2005

21. Natural history and familial characteristics of isolated left ventricular non-compaction

Author: Ross T, Murphy, Rajesh, Thaman, Juan Gimeno, Blanes, Deirdre, Ward, Elias, Sevdalis, Efi, Papra, Anatoli, Kiotsekoglou, Anatoli, Kiotsekolglou, Maria T, Tome, Denis, Pellerin, William J, McKenna, and Perry M, Elliott
Subjects: Adult, Cardiomyopathy, Dilated, Male, medicine.medical_specialty, Noncompaction cardiomyopathy, Adolescent, Cardiomyopathy, Ventricular tachycardia, Asymptomatic, Cohort Studies, Ventricular Dysfunction, Left, Risk Factors, Internal medicine, Humans, Medicine, Genetic Testing, Aged, Aged, 80 and over, business.industry, Dilated cardiomyopathy, Middle Aged, Prognosis, medicine.disease, Left ventricular noncompaction cardiomyopathy, Pedigree, Transplantation, Echocardiography, Exercise Test, Cardiology, Left ventricular noncompaction, Female, Hypertrophy, Left Ventricular, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Echocardiography, Transesophageal
Abstract: Aims Non-compaction of the left ventricle (LVNC) is a disorder of endomyocardial morphogenesis that results in multiple trabeculations in the left ventricular myocardium. The current literature suggests that LVNC in adults is rare and associated with a poor prognosis. Given that the disorder is present at birth and that several studies have reported asymptomatic familial disease in some patients, we hypothesized that there is a long pre-clinical phase of the disease. The aim of this study was to define the prognosis and familial incidence of LVNC. Methods and results This study cohort comprised 45 patients (mean age at diagnosis 37 years) consecutively identified at a referral centre for cardiomyopathy over a 10-year period. Twenty-eight patients (62%) had dyspnoea at presentation; 41 (91%) an abnormal ECG; and 30 (66%) left ventricular dilatation and impaired systolic function. Nine patients (20%) had non-sustained ventricular tachycardia on 24 h Holter monitoring. Mean survival from death or transplantation was 97% at 46 months. There were three thromboembolic events in two patients (4%). On systematic family screening, 8 of 32 (25%) asymptomatic relatives had a range of echocardiographic abnormalities, including LVNC, LVNC with impaired systolic function, and left ventricular enlargement without LVNC. Conclusion This study demonstrates that LVNC is associated with a better prognosis than previously reported. In patients with familial disease, relatives may have features consistent with dilated cardiomyopathy rather than LVNC.
Published: 2004

22. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria

Author: William J. McKenna, Deirdre Ward, Katja Gehmlich, Pablo García-Pavía, Giovanni Quarta, Srijita Sen-Chowdhry, Petros Syrris, Alison Muir, Antonios Pantazis, and Perry M. Elliott
Subjects: Proband, Adult, Male, medicine.medical_specialty, Heart disease, Genotype, Penetrance, Right ventricular cardiomyopathy, Electrocardiography, Risk Factors, Physiology (medical), Internal medicine, medicine, Prevalence, Humans, Point Mutation, Family, Genetic Predisposition to Disease, Expressivity (genetics), Genotyping, Arrhythmogenic Right Ventricular Dysplasia, business.industry, Desmosomes, Middle Aged, medicine.disease, Arrhythmogenic right ventricular dysplasia, Pedigree, Mutation (genetic algorithm), Cardiology, Tachycardia, Ventricular, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract: Background— With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation analysis is being applied. Methods and Results— The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in genotyped families, and the utility of the 2010 Task Force criteria in clinical diagnosis. Clinical and molecular genetic evaluation was performed in 210 first-degree and 45 second-degree relatives from 100 families. In 51 families, the proband was deceased. The living probands had a high prevalence of ECG abnormalities (89%) and ventricular arrhythmia (78%) and evidence of more severe disease than relatives. Definite or probable causal mutations were found in 58% of families and 73% of living probands, of whom 28% had an additional desmosomal variant (ie, mutation or polymorphism). Ninety-three relatives had a causal mutation; 33% fulfilled the 2010 criteria, whereas only 19% satisfied the 1994 version ( P =0.03). An additional desmosomal gene variant was found in 10% and was associated with a 5-fold increased risk of developing penetrant disease (odds ratio, 4.7; 95% confidence interval, 1.1 to 20.4; P =0.04). Conclusions— Arrhythmogenic right ventricular cardiomyopathy is a genetically complex disease characterized by marked intrafamilial phenotype diversity. Penetrance is definition dependent and is greater with the 2010 criteria compared with the 1994 criteria. Relatives harboring >1 genetic variant had significantly increased risk of developing clinical disease, potentially an important determinant of the phenotypic heterogeneity seen within families with arrhythmogenic right ventricular cardiomyopathy.
Published: 2011

23. Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia

Author: Sabino Iliceto, N.A. Mark Estes, Giuseppe Boriani, Loira Leoni, Renato Pietro Ricci, Gaetano Thiene, Massimo Santini, Frank I. Marcus, Domenico Corrado, Michela Bevilacqua, William J. McKenna, Hugh Calkins, Stefano Favale, Thomas Wichter, Mark S. Link, Darshan Dalal, Jonathan P. Piccini, Deirdre Ward, Cristina Basso, Gianfranco Buja, Corrado D, Calkins H, Link MS, Leoni L, Favale S, Bevilacqua M, Basso C, Ward D, Boriani G, Ricci R, Piccini JP, Dalal D, Santini M, Buja G, Iliceto S, Estes NA 3rd, Wichter T, McKenna WJ, Thiene G, and Marcus FI.
Subjects: Adult, Male, young adults, medicine.medical_specialty, International Cooperation, Cardiomyopathy, Kaplan-Meier Estimate, Implantable defibrillator, Ventricular tachycardia, Sudden death, Right ventricular cardiomyopathy, Young Adult, Physiology (medical), Internal medicine, medicine, Humans, cardiovascular diseases, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Dysplasia/diagnosis, adolescent, Retrospective Studies, business.industry, Middle Aged, medicine.disease, Defibrillators, Implantable, Arrhythmogenic right ventricular dysplasia, Survival Rate, Ventricular flutter, Treatment Outcome, Anesthesia, Ventricular Fibrillation, Ventricular fibrillation, Tachycardia, Ventricular, Cardiology, cardiovascular system, Female, Electrophysiologic Techniques, Cardiac, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract: Background— The role of implantable cardioverter-defibrillator (ICD) in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation (VF) or sustained ventricular tachycardia is an unsolved issue. Methods and Results— We studied 106 consecutive patients (62 men and 44 women; age, 35.6±18 years) with arrhythmogenic right ventricular cardiomyopathy/dysplasia who received an ICD based on 1 or more arrhythmic risk factors such as syncope, nonsustained ventricular tachycardia, familial sudden death, and inducibility at programmed ventricular stimulation. During follow-up of 58±35 months, 25 patients (24%) had appropriate ICD interventions and 17 (16%) had shocks for life-threatening VF or ventricular flutter. At 48 months, the actual survival rate was 100% compared with the VF/ventricular flutter–free survival rate of 77% (log-rank P =0.01). Syncope significantly predicted any appropriate ICD interventions (hazard ratio, 2.94; 95% confidence interval, 1.83 to 4.67; P =0.013) and shocks for VF/ventricular flutter (hazard ratio, 3.16; 95% confidence interval, 1.39 to 5.63; P =0.005). The positive predictive value of programmed ventricular stimulation was 35% for any appropriate ICD intervention and 20% for shocks for VF/ventricular flutter, with a negative predictive value of 70% and 74%. None of the 27 asymptomatic patients with isolated familial sudden death had appropriate ICD therapy. Twenty patients (19%) had inappropriate ICD interventions, and 18 (17%) had device-related complications. Conclusions— One fourth of patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior sustained ventricular tachycardia or VF had appropriate ICD interventions. Syncope was an important predictor of life-saving ICD intervention and is an indication for ICD. Prophylactic ICD may not be indicated in asymptomatic patients because of their low arrhythmic risk regardless of familial sudden death and programmed ventricular stimulation findings. Programmed ventricular stimulation had a low predictive accuracy for ICD therapy.
Published: 2010

24. Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

Author: Luis Garcia Guereta, Deirdre Ward, Petros Syrris, Jeffrey E. Saffitz, Angeliki Asimaki, and William J. McKenna
Subjects: Male, Pathology, medicine.medical_specialty, Histology, Cardiomyopathy, Plakoglobin, Context (language use), Dermatology, Polymerase Chain Reaction, Pathology and Forensic Medicine, Keratoderma, Palmoplantar, medicine, Humans, Keratoderma, Intermediate filament, Child, Microscopy, Confocal, integumentary system, biology, Base Sequence, Desmoplakin, business.industry, Acantholysis, Alopecia, medicine.disease, Immunohistochemistry, Pedigree, Death, Sudden, Cardiac, Desmoplakins, Mutation, biology.protein, business, Cardiomyopathies, Epidermolysis Bullosa, Spongiosis
Abstract: Desmoplakin plays a vital role in cell adhesion, linking the transmembrane desmosomal complex to the cytoskeletal network. Clues to the biological significance of desmoplakin have emerged from the embryonic lethal phenotype of null mice and from naturally occurring human desmoplakin mutations, which cause cardiocutaneous phenotypes.In this study, we describe a child who presented with the unique constellation of bullous dermatosis, profound plantar keratoderma, alopecia totalis and cardiomyopathy leading to sudden cardiac death at the age of 9 years.This complex cardiocutaneous phenotype is associated with compound heterozygosity for two novel nonsense desmoplakin mutations. Histological examination of a plantar skin biopsy showed full thickness epidermal acantholysis with superimposed spongiosis, hyperorthokeratosis and focal parakeratosis. Immunohistochemistry and quantitative confocal microscopy showed abnormal tissue distribution and reduced levels of expression for plakoglobin, desmoplakin and connexin 43 at epidermal junctional sites.Interpretation of the changes in the context of the two mutations provides insight into the mechanism of clinical cell adhesion disease.Asimaki A, Syrris P, Ward D, Guereta LG, Saffitz JE, McKenna WJ. Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.J Cutan Pathol 2009; 36: 553-559. (C) 2008 Blackwell Munksgaard.
Published: 2009

25. Immune Thrombocytopenic Purpura

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

26. Acne Vulgaris

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

27. Irritable Bowel Disease

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

28. Idiopathic Bronchiolitis Obliterans with Organizing Pneumonia

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

29. Adrenal Insufficiency, Secondary

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

30. AIHA

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

31. Cachexia-Anorexia Syndrome

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

32. Adenomatous Polyposis, Familial

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

33. Idiopathic Inflammatory Myopathy

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

34. Chorioretinitis

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

35. Churg Strauss Syndrome

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

36. Aldolase B Deficiency

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

37. Congenital Sucrose Intolerance

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

38. Acid α-Glucosidase Deficiency

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

39. Congenital Generalized Fibromatosis

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

40. Autoimmune Polyendocrinopathy-Candidiasis-ectodermal Dystrophy

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

41. Alopecia, Androgenetic

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

42. Idiopathic Neuromyotonia

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

43. Common Variable Immunodeficiency

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

44. Anthrax Pneumonia

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

45. Clefts of the Lip, Alveolus and Palate

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

46. Intestinal Obstruction

Author: Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Katie Woods, Adrian Clark, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, and Du Toit Loots
Published: 2009

47. Arrhythmogenic Right Ventricular Cardiomyopathy

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

48. Carnitine Deficiency (without Transport and Uptake)

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

49. Cirrhose Cardiaque

Author: Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch
Published: 2009

50. Autoimmune Myocarditis

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

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