16 results on '"Jesus Solera"'
Search Results
2. Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital
- Author
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J A Pajares, M. Die-Trill, M. Martin, Sara López-Tarruella, Miriam Lobo, M Sanz, J.P. Justel, I. Márquez-Rodas, C González-Asanza, C Lopez, A Muñoz-Martin, C Flores-Sanchez, C Mata, Yolanda Jerez, S. Lizarraga, M Blanco, M I Peligros, S. Luque, Jesus Solera, and Oscar Bueno
- Subjects
Male ,0301 basic medicine ,Cancer Research ,Pediatrics ,medicine.medical_specialty ,030105 genetics & heredity ,Hospitals, University ,03 medical and health sciences ,0302 clinical medicine ,Neoplastic Syndromes, Hereditary ,Multidisciplinary approach ,medicine ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Retrospective Studies ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Cancer ,General Medicine ,University hospital ,medicine.disease ,Prophylactic Surgery ,Lynch syndrome ,Oncology ,Spain ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Female ,Hereditary Cancer ,business - Abstract
Objective: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. Methods: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. Results: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. Conclusion: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected.
- Published
- 2016
3. Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit
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S. Lizarraga, Ricardo González del Val, Miriam Lobo, Ivan Marquez-Rodas, Carmen Flores-Sánchez, Jesus Solera, Miguel Martin, Yolanda Jerez, Maria Cebollero, María Isabel Palomero, Soledad Luque, Oscar Bueno, Isabel Echavarria, Gabriela Torres, and Sara López-Tarruella
- Subjects
Adult ,medicine.medical_specialty ,Referral ,Genetic counseling ,Breast Neoplasms ,Medical Oncology ,Hospitals, University ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Risk Factors ,Internal medicine ,Medicine ,Humans ,Genetic Predisposition to Disease ,030212 general & internal medicine ,Genetic Testing ,Family history ,Genetics (clinical) ,Genetic testing ,Retrospective Studies ,Ovarian Neoplasms ,medicine.diagnostic_test ,business.industry ,Medical record ,Cancer ,Retrospective cohort study ,Middle Aged ,medicine.disease ,Spain ,030220 oncology & carcinogenesis ,Female ,business - Abstract
The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007-2010) and after the creation of the HFCU (second period: 2010-2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p
- Published
- 2017
4. Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease
- Author
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Lars C. Huber, Justyna Szamalek-Hoegel, Silvia Ulrich, Manuel Fischler, Jesus Solera Garcia, Bart Janssen, Martin Hersberger, Ekkehard Grünig, and Rudolf Speich
- Subjects
Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Pathology ,Heart disease ,business.industry ,Respiratory disease ,medicine.disease ,Thrombosis ,Pulmonary hypertension ,BMPR2 ,medicine.anatomical_structure ,Embolism ,Internal medicine ,Pathophysiology of hypertension ,medicine ,Cardiology ,business ,Artery - Abstract
Background: Idiopathic pulmonary arterial hypertension (IPAH) and chronic thromboembolic pulmonary hypertension (CTEPH) share important pathogenic and clinical features. BMPR2 mutations are important in the pathogenesis of IPAH, but little is known about the genetic background in CTEPH. Objective: To search for mutations and polymorphisms in genes involved in the BMPR2, serotonin and nitric oxide pathways possibly associated with pulmonary and cardiac disorders in IPAH and CTEPH. Methods: In a cohort of Swiss patients with IPAH (n = 16) and CTEPH (n = 16), and in 24 controls with left heart disease without PH, polymorphisms in the BMPR2, 5-HHT, 5-HTR-2A and eNOS genes were analyzed and correlated with various clinical, functional and hemodynamic parameters. Results: We found a BMPR2 missense mutation in a patient with coronary artery disease (CAD) without PH but no BMPR2 mutations in our collective with late-onset sporadic PH. In patients with polymorphic variants of the BMPR2 gene, the number of blood platelets and oxygen saturation were increased. The c.600A→C synonymous variant was associated with worse exercise capacity and decreased quality of life in PH. We found no significant differences for any measured parameter according to the eNOS, 5-HTR2A and the 5-HTT polymorphisms, although there was a higher allelic frequency of the 5-HTT long variant in IPAH than in CTEPH and controls. Conclusion: Our first report of a BMPR2 mutation in a patient with CAD without PH is interesting and warrants further investigation. Our study may reflect the clinical status and genetic background in a typical PH cohort as seen in a single tertiary care referral center.
- Published
- 2009
5. A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors
- Author
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Benjamin Brenner, Beatriz Sánchez-Vega, Sheue-Mei Wu, Naomi Lanir, Darrel W. Stafford, and Jesus Solera
- Subjects
Immunology ,Cell Biology ,Hematology ,Biochemistry - Abstract
To identify potential mutations in the γ-glutamyl carboxylase gene, the sequence of all exons and intron/exon borders was determined in 4 patients from a consanguineous kindred with combined deficiency of all vitamin K-dependent procoagulants and anticoagulants and results were compared with normal genomic sequence. All 4 patients were homozygous for a point mutation in exon 9 that resulted in the conversion of an arginine codon (CTG) to leucine codon (CGG) at residue 394. Screening of this mutation based on introduction of Alu I site in amplified fragment from normal allele but not from the mutated allele showed that 13 asymptomatic members of the kindred were heterozygous for the mutation. The mutation was not found in 340 unrelated normal chromosomes. The segregation pattern of the mutation which is the first reported in the γ-glutamyl carboxylase gene fits perfectly with phenotype of the disorder and confirms the suggested autosomal recessive pattern of inheritance of combined deficiency of all vitamin K-dependent procoagulants and anticoagulants in this kindred. The mutated carboxylase protein expressed in Drosophila cells was stable but demonstrated threefold reduced activity compared with WT carboxylase, confirming that the L394R mutation results in a defective carboxylase.
- Published
- 1998
6. A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors
- Author
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Sheue Mei Wu, Beatriz Sanchez-Vega, Naomi Lanir, Jesus Solera, Benjamin Brenner, and Darrel W. Stafford
- Subjects
Genetics ,Point mutation ,Immunology ,Cell Biology ,Hematology ,Biology ,Biochemistry ,Gamma-glutamyl carboxylase ,Pyruvate carboxylase ,Exon ,Mutation (genetic algorithm) ,Missense mutation ,Allele ,Gene - Abstract
To identify potential mutations in the γ-glutamyl carboxylase gene, the sequence of all exons and intron/exon borders was determined in 4 patients from a consanguineous kindred with combined deficiency of all vitamin K-dependent procoagulants and anticoagulants and results were compared with normal genomic sequence. All 4 patients were homozygous for a point mutation in exon 9 that resulted in the conversion of an arginine codon (CTG) to leucine codon (CGG) at residue 394. Screening of this mutation based on introduction of Alu I site in amplified fragment from normal allele but not from the mutated allele showed that 13 asymptomatic members of the kindred were heterozygous for the mutation. The mutation was not found in 340 unrelated normal chromosomes. The segregation pattern of the mutation which is the first reported in the γ-glutamyl carboxylase gene fits perfectly with phenotype of the disorder and confirms the suggested autosomal recessive pattern of inheritance of combined deficiency of all vitamin K-dependent procoagulants and anticoagulants in this kindred. The mutated carboxylase protein expressed in Drosophila cells was stable but demonstrated threefold reduced activity compared with WT carboxylase, confirming that the L394R mutation results in a defective carboxylase.
- Published
- 1998
7. Genomic Sequence and Transcription Start Site for the Human γ-Glutamyl Carboxylase
- Author
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Kirk Chu, Beatriz Sanchez-Vega, Yuan Yun Fu, Jesus Solera, Katherine A. High, Sheue Mei Wu, Darrel W. Stafford, and L. Dan Frazier
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Genetics ,Base pair ,Immunology ,Nucleic acid sequence ,Alu element ,Cell Biology ,Hematology ,Biology ,Biochemistry ,Molecular biology ,Gamma-glutamyl carboxylase ,Exon ,chemistry.chemical_compound ,chemistry ,Transcription (biology) ,Gene ,DNA - Abstract
The human gene for γ-glutamyl carboxylase is 13 kb in length and contains 15 exons. Transcription starts at a cytosine 217 base pair upstream of the first codon. There are two major transcripts in all tissues examined. They are distinguished by the presence of an Alu sequence in the 3′ nontranslated end of the longer species. Relative mRNA levels for 12 bovine tissues are presented.
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- 1997
8. The Spanish familial pancreatic cancer registry panfam: Screening of high-risk individuals
- Author
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Guillèn-Ponce, Carmen, primary, Earl, Julie, additional, Lopez, Maria Teresa Salazar, additional, Calcedo, Celia, additional, Ferreiro, Reyes, additional, Mocci, Evelina, additional, Guerrero, Carme, additional, Montans, José, additional, Marquez, Mirari, additional, Gordaliza, Cristina González, additional, Beltrán, Maria Muñoz, additional, Sequeiros, Enrique Vazquez, additional, Sanjuanbenito, Alfonso, additional, García, Jesus Solera, additional, Real, Francisco, additional, Malats, Nuria, additional, and Carrato, Alfredo, additional
- Published
- 2015
- Full Text
- View/download PDF
9. Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease
- Author
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Silvia, Ulrich, Justyna, Szamalek-Hoegel, Martin, Hersberger, Manuel, Fischler, Jesus Solera, Garcia, Lars C, Huber, Ekkehard, Grünig, Bart, Janssen, and Rudolf, Speich
- Subjects
Aged, 80 and over ,Male ,Serotonin Plasma Membrane Transport Proteins ,Serotonin ,Polymorphism, Genetic ,Heart Diseases ,Nitric Oxide Synthase Type III ,Hypertension, Pulmonary ,Middle Aged ,Bone Morphogenetic Protein Receptors, Type II ,Nitric Oxide ,Humans ,Female ,Receptor, Serotonin, 5-HT2A ,Prospective Studies ,Aged - Abstract
Idiopathic pulmonary arterial hypertension (IPAH) and chronic thromboembolic pulmonary hypertension (CTEPH) share important pathogenic and clinical features. BMPR2 mutations are important in the pathogenesis of IPAH, but little is known about the genetic background in CTEPH.To search for mutations and polymorphisms in genes involved in the BMPR2, serotonin and nitric oxide pathways possibly associated with pulmonary and cardiac disorders in IPAH and CTEPH.In a cohort of Swiss patients with IPAH (n = 16) and CTEPH (n = 16), and in 24 controls with left heart disease without PH, polymorphisms in the BMPR2, 5-HHT, 5-HTR-2A and eNOS genes were analyzed and correlated with various clinical, functional and hemodynamic parameters.We found a BMPR2 missense mutation in a patient with coronary artery disease (CAD) without PH but no BMPR2 mutations in our collective with late-onset sporadic PH. In patients with polymorphic variants of the BMPR2 gene, the number of blood platelets and oxygen saturation were increased. The c.600A--C synonymous variant was associated with worse exercise capacity and decreased quality of life in PH. We found no significant differences for any measured parameter according to the eNOS, 5-HTR2A and the 5-HTT polymorphisms, although there was a higher allelic frequency of the 5-HTT long variant in IPAH than in CTEPH and controls.Our first report of a BMPR2 mutation in a patient with CAD without PH is interesting and warrants further investigation. Our study may reflect the clinical status and genetic background in a typical PH cohort as seen in a single tertiary care referral center.
- Published
- 2009
10. First one thousand families: Our multidisciplinary experience in the heredo-familial cancer unit from a Spanish University Hospital
- Author
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Mercedes Sanz, S. Lizarraga, Jesus Solera, Cristina López López, Sara López-Tarruella, Oscar Bueno, Patricia Rincon, Miguel Martin, Maria Die Trill, Aitana Calvo, Cecilia González Asanza, Andres J. Muñoz Martín, Maria Isabel Peligros, Soledad Luque Molina, Cristina Mata, Jose Antonio Pajares, Yolanda Jerez Gilarranz, Carmen Flores Sanchez, Pedro Menchén, and Ivan Marquez Rodas
- Subjects
Cancer Research ,Pediatrics ,medicine.medical_specialty ,Oncology ,Hereditary Cancer Syndromes ,Multidisciplinary approach ,business.industry ,Medicine ,Familial Cancer ,University hospital ,business ,Unit (housing) - Abstract
1556 Background: Patients with hereditary cancer syndromes (HCS) need a multidisciplinary approach: Different organs and systems may be involved and different risk reducing strategies (medical and ...
- Published
- 2015
11. Genetic and phenotypic characterization of families with familial pancreatic cancer and screening of high-risk individuals
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Cristina Gonzalez Gordaliza, C. Guerrero, Núria Malats, Alfredo Carrato, Alfonso Sanjuanbenito, Maria Jesus MuÑoz, Carmen Guillen, Enrique Vazquez Sequeiros, Julie Earl, José Montans, Jesus Solera, Evelina Mocci, Francisco X. Real, and Mirari Marquez
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Oncology ,Cancer Research ,medicine.medical_specialty ,Pathology ,medicine.diagnostic_test ,business.industry ,Cancer ,medicine.disease ,Phenotype ,Pancreatic tumor ,Internal medicine ,Pancreatic cancer ,Familial Pancreatic Cancer ,medicine ,Family history ,business ,Survival rate ,Genetic testing - Abstract
242 Background: The prognosis of patients diagnosed with Pancreatic Cancer (PC) is dismal with a 5-year survival rate of around 5%. Familial Pancreatic Cancer (FPC) is an autosomal dominant rare syndrome defined as families with two or more first-degree relatives with pancreatic cancer that do not fulfill the criteria of any other inherited tumor syndrome. The Spanish familial pancreatic cancer registry, Pan-Gen-FAM was established in 2009 in order to identify and manage families at high risk of developing PC. Methods: Information on the family history of cancer is collected in order to determine the phenotype of individual families and patients are offered genetic testing of known FPC associated genes pertinent to their familial syndrome. An individualized clinical screening program is devised for the early detection of a pancreatic tumor consisting of periodic monitoring by imaging techniques (EUS and MRI) and the evaluation of minimally-invasive tumor biomarkers approaches including Circulating Tumor Cells (CTC) and circulating free DNA in blood. Results: To date the registry includes 125 individuals representing some 41 families. Of 17 families tested so far BRCA2 germline mutations were detected in 5 families and a BRCA1 mutation in 1 family. 43 individuals underwent clinical screening. More pancreatic abnormalities were found by EUS (41%) than by MRI (31%). The most frequent abnormal findings were parenchymal changes associated with chronic pancreatitis. Eight cystic lesions were identified. One lesion was identified as a well differentiated neuroendocrine tumor and another was shown to have benign cytology and whilst carcinoma was found in a third patient, this patient underwent a subsequent partial pancreatectomy. The remaining patients with cystic lesions are undergoing close clinical observation. Seventy three patients underwent CTC determinations and all patients tested negative. Conclusions: Periodic screening of high risk individuals by EUS and RMI can detect small tumors and premalignant lesions. We hypothesize that these persons will have a higher probability of long-term survival than sporadic cases.
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- 2015
12. Nuevas mutaciones asociadas a la enfermedad de Hirschsprung
- Author
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Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, and Jesús Solera García
- Subjects
Hirschsprung ,RET ,Mutations ,Pediatrics ,RJ1-570 - Abstract
Resumen: Introducción: La enfermedad de Hirschsprung está causada por un defecto de la migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico. Mutaciones en varios genes han sido asociadas a la enfermedad de Hirschsprung, la mayoría afectando a la vía del protooncogén RET. El objetivo de este estudio es la descripción de mutaciones tanto descritas como nuevas asociadas a la enfermedad de Hirschsprung, así como sus implicaciones pronósticas. Material y métodos: Análisis retrospectivo de pacientes con enfermedad de Hirschsprung y resultados genéticos positivos desde 1970 hasta 2013. Resultados: En la serie global, 21 pacientes tenían resultados genéticos positivos, 17 de ellos afectando la vía del protooncogén RET. Dos de las mutaciones son nuevas y no han sido previamente descritas en la literatura médica. Conclusiones: El protooncogén RET es el principal gen asociado a la enfermedad de Hirschsprung. Todavía hay múltiples mutaciones desconocidas relacionadas con la patogenia de la enfermedad. El estudio genético del gen RET debe formar parte del estudio diagnóstico de todos los pacientes con enfermedad de Hirschsprung, así como de sus familiares de primer grado en caso de que las mutaciones estén asociadas a los síndromes MEN2A y MEN2B. Abstract: Introduction: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. Material and methods: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. Results: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. Conclusions: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.
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- 2020
- Full Text
- View/download PDF
13. New mutations associated with Hirschsprung disease
- Author
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Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, and Jesús Solera-García
- Subjects
Hirschsprung ,RET ,Mutaciones ,Pediatrics ,RJ1-570 - Abstract
Introduction: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. Material and methods: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. Results: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene: Two of the mutations are novel and they have not been reported in the medical literature. Conclusions: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes. Resumen: Introducción: La enfermedad de Hirschsprung está causada por un defecto de migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico. Mutaciones en varios genes han sido asociadas a la enfermedad de Hirschsprung, la mayoría afectando a la vía del protooncogén RET. El objetivo de este estudio es la descripción de mutaciones tanto descritas como nuevas asociadas a la enfermedad de Hirschsprung, así como sus implicaciones pronósticas. Material y métodos: Análisis retrospectivo de pacientes con enfermedad de Hirschsprung y resultados genéticos positivos desde 1970 hasta 2013. Resultados: En la serie global, 21 pacientes tenían resultados genéticos positivos, 17 de ellos afectando a la vía del protooncogén RET: 2 de las mutaciones son nuevas y no han sido previamente descritas en la literatura médica. Conclusiones: El protooncogén RET es el principal gen asociado a la enfermedad de Hirschsprung. Todavía hay múltiples mutaciones desconocidas relacionadas con la patogenia de la enfermedad. El estudio genético del gen RET debe formar parte del estudio diagnóstico de todos los pacientes con enfermedad de Hirschsprung, así como de sus familiares de primer grado en caso de que las mutaciones estén asociadas a los síndromes MEN2A y MEN2B.
- Published
- 2020
- Full Text
- View/download PDF
14. A Multidisciplinary Approach to Heredofamilial Cancer Syndromes: Evaluation of the First Four Years of Experience at a Spanish University Hospital
- Author
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Jose Antonio Pajares, A. Muñoz Martín, P. García Alfonso, S. Luque, I. Márquez-Rodas, Jesus Solera, C. Flores Sanchez, C. López López, J.P. Justel, M. Martin, Sara López-Tarruella, S. Lizarraga, J.A. Arranz Arija, Cristina Mata, Pedro Menchén, Miguel-Angel Sanz, M. Die-Trill, Oscar Bueno, J. Gomez Camarero, and Isabel Peligros
- Subjects
medicine.medical_specialty ,Pediatrics ,business.industry ,Genetic counseling ,Psychological intervention ,Cancer ,Hematology ,University hospital ,medicine.disease ,Surgery ,Oncology ,Multidisciplinary approach ,Li–Fraumeni syndrome ,medicine ,business ,Pathological ,Multiple endocrine neoplasia type 2b - Abstract
Aim: Heredofamilial cancer syndromes (HCS) need a multidisciplinary approach, since: 1) different organs and systems can be affected; and 2) different risk-reducing strategies, involving several medical and surgical specialists, should be provided. With this in mind, we implemented in 2010 a multidisciplinary heredofamilial cancer unit (HFCU) in our hospital. Methods: Retrospective analysis of the first 4 years the HFCUs activity. Results: A total of 1070 patients, from 927 different families were attended. 761 (71%) patients fulfilled international criteria for HCS. Genetic test results (GTR) were available for 323 patients at the time of analysis, with 115 cases (35.6%) of pathological mutations (MUT) detected. New mutation detection rate (first time diagnosis in a family) was 22%.The distribution according to pathology is summarized in the table. In patients with pathogenic mutations, risk reducing surgery (RRS) and /or follow up were offered according to international guidelines and patients' preferences: 34.8% patients went to RRS, while 65.2% only went to follow up. MUT / GTR (%) Breast & ovarian 84/231 (36.3) Lynch 14/36 (38.9) Poliposis 6/16 (37.5) Li Fraumeni 2/10 (20) Melanoma/pancreas 1/8 (12.5) Cowden 1/7 (14.3) MEN 3/6 (50) VHL 1/3 (33.3) Diffuse gastric 1/3 (33.3) NF1 1/2 (50) Gorlin 1/1 (100) TOTAL 115/323 (35.6) Conclusions: The implementation of an HFCU has provided a multidisciplinary assistance to a wide number of patients at risk in its first four years of activity. Patients were well pre-selected, as revealed by the high new mutation detection rate. However, further analysis must be done in order to evaluate the real impact of these interventions, to improve the different steps and timing of the genetic counseling process, and to receive the input from patients and their families Disclosure: All authors have declared no conflicts of interest.
- Published
- 2014
15. Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease
- Author
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Ulrich, Silvia, primary, Szamalek-Hoegel, Justyna, additional, Hersberger, Martin, additional, Fischler, Manuel, additional, Garcia, Jesus Solera, additional, Huber, Lars C., additional, Grünig, Ekkehard, additional, Janssen, Bart, additional, and Speich, Rudolf, additional
- Published
- 2009
- Full Text
- View/download PDF
16. El cine de Krzysztof Kieslowski: la Perfección y el Azar
- Author
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Jesús Solera
- Subjects
Perfección ,Azar ,Posmodernidad ,Lenguaje ,Mecanización ,Sociology (General) ,HM401-1281 - Abstract
Se analiza brevemente lo esencial de la obra cinema tográfica del director polaco Krzystof Kieslowski (Varsovia, 1941–1996) y de Krzy stof Pisiewick (Varsovia, 1945) su guionista. Básicamente son dos vectores (paradój icamente opuestos) los que la fundamentan: la Perfección y el Azar. Ambos actúan sobre la vida del ciudadano del mundo occidental: a la presión del primero, Kieslo wski ofrece la abertura del segundo. Este es su análisis de la sociedad europea y, lo que es más importante, así lo traslada a su lenguaje cinematográfico. De esta forma, demostrando su inmensa personalidad, se aleja de las tendencias frívolas y banalizadoras del cine en la posmodernidad, que ha esterilizado y mecanizado el lenguaje cinematográfico. Desde su soledad intelectual y artística nos dejó una obra clave para la cinematografía mundial. Una obra que nos ayuda a en tendernos a nosotros mismos.
- Published
- 2009
- Full Text
- View/download PDF
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