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12 results on '"Groote Schuur and Red Cross Children's Hospital"'

1. «Interventional Neuroradiology: A Neuroscience Sub-Specialty?»

Author

Terbrugge K, Serge Bracard, A.G. Taylor, Tampieri D, Luc Picard, Anton Valavanis, Mario Muto, Söderman M, Shigeru Miyashi, S. Pongpech, Sul Dc, Leonardi M, Lefeuvre D, Toshio Hyogo, Jurgen Reul, Georges Rodesch, Mayer T, Ronie Leo Piske, van den Berg R, Choi Is, Ling Feng, Alessandra Biondi, Alejandro Berenstein, Hôpital Foch [Suresnes], Département de neuroradiologie diagnostique et thérapeutique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Beth Israel Deaconess Medical Center, Harvard Medical School [Boston] (HMS), Service de Neuroradiologie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Lahey Hospital & Medical Center, Xuanwu Hospital of Capital, Nakamura Memorial Hospital, Groote Schuur and Red Cross Children's Hospital, IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], Department of Neuroradiology [Universitätsklinikum Friedrich-Schiller-University], Universitätsklinikum Friedrich-Schiller-University (FSU), Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany]-Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany], Nagoya University Graduate School of Medicine [Japon], Ospedale Cardarelli, Hospital Beneficencia Portoguesa [Sao Paolo], Rhamatibodi Hospital [Bangkok], BetaKlinik, Karolinska Institutet [Stockholm], Asan Medical Center [Seoul], University of Ulsan, Institut et hôpital neurologiques de Montréal, McGill University = Université McGill [Montréal, Canada], Toronto Western Hospital, University of Toronto, University hospital of Zurich [Zurich], Dept. of Radiology, VU University Medical Center, UL, IADI, Rodesch G, Picard L, Berenstein A, Biondi A, Bracard S, Choi IS, Feng L, Hyogo T, Lefeuvre D, Leonardi M, Mayer T, Miyashi S, Muto M, Piske R, Pongpech S, Reul J, Soderman M, Chuh DS, Tampieri D, Taylor A, Terbrugge K, Valavanis A, and van den Berg R.

Subjects
medicine.medical_specialty, Pathology, Specialty, Basic science, Radiology, Interventional, Radiography, Interventional, Meeting Abstracts, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine, Medical physics, Interventional neuroradiology, Stent retriever, Neuroradiology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, training, business.industry, Neurosciences, Original Articles, Neuroradiography, interventional neuroradiology, Medicine, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; Interventional Neuroradiology (INR) is not bound by the classical limits of a speciality, and is not restricted by standard formats of teaching and education. Open and naturally linked towards neurosciences, INR has become a unique source of novel ideas for research, development and progress allowing new and improved approaches to challenging pathologies resulting in better anatomo-clinical results. Opening INR to Neurosciences is the best way to keep it alive and growing. Anchored in Neuroradiology, at the crossroad of neurosciences, INR will further participate to progress and innovation as it has often been in the past.

Published
2013
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2. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Author

Gloria Velasco, Carlos López-Otín, Nicolas Lévy, Víctor Quesada, Silvia Möhrcken, Annachiara De Sandre-Giovannoli, Dido Carrero, Martina Owens, Raoul C.M. Hennekam, Ana Pérez, Elisabeth Gabau, Diana A. Puente, Óscar Asensio, Wim Wuyts, Valérie Benoit, Clara Soria-Valles, Clea Bárcena, Bart Loeys, Karen Fieggen, Marleen Moens, Departamento de Bioquímica y Biología Molecular, Universidad de Oviedo-Instituto Universitario de Oncología, Department of Medical Genetics, Groote Schuur and Red Cross Children's Hospital, Antwerp University Hospital [Edegem] (UZA)-Faculty of Medicine and Health Sciences, Yoplait, Department of Medical genetics, University of Antwerp (UA), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Pediatrics, Academic Medical Center, University of Amsterdam, Universidad de Oviedo [Oviedo]-Instituto Universitario de Oncología, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Public Health, Paediatric Genetics, and Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)

Subjects
0301 basic medicine, Genetics, Progeria, congenital, hereditary, and neonatal diseases and abnormalities, integumentary system, nutritional and metabolic diseases, Biology, medicine.disease, Progerin, Progeroid syndromes, 3. Good health, Mandibuloacral dysplasia, LMNA, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Missense mutation, Human medicine, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Lamin
Abstract

International audience; Background Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause. Methods and results Patients reported herein present an extremely homogeneous phenotype that somewhat recapitulates those of patients with HGPS and mandibuloacral dysplasia. However, pathological signs appear earlier, are more aggressive and present distinctive features including episodes of severe upper airway obstruction. Exome and Sanger sequencing allowed the identification of heterozygous de novo c.163G>A, p.E55K and c.164A>G, p.E55G mutations in LMNA as the alterations responsible for this disorder. Functional analyses demonstrated that fibroblasts from these patients suffer important dysfunctions in nuclear lamina, which generate profound nuclear envelope abnormalities but without progerin accumulation. These nuclear alterations found in patients' dermal fibroblasts were also induced by ectopic expression of the corresponding site-specific LMNA mutants in control human fibroblasts. Conclusions Our results demonstrate the causal role of p.E55K and p.E55G lamin A mutations in a disorder which manifests novel phenotypic features of the progeria spectrum characterised by neonatal presentation and aggressive clinical evolution, despite being caused by lamin A/C missense mutations with effective prelamin A processing.

Published
2016
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3. Association of serum leptin and adiponectin with anthropomorphic indices of obesity, blood lipids and insulin resistance in a Sub-Saharan African population

Author

Clarisse Noël Ayina Ayina, Michel K. Mengnjo, Jean François Gautier, Jean Claude Mbanya, Jean Jacques Noubiap, Laurent Serge Etoundi Ngoa, Eugene Sobngwi, Philippe Boudou, Dpt of Animal Science [Douala], Université de Douala, Groote Schuur and Red Cross Children's Hospital, University of Cape Town, Medical diagnostic center, Yaoundé, Department of Animal Science [Yaoudé], National Advanced School of Engineering (University of Yaounde I), Service de Biologie Hormonale [CHU Saint-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de diabétologie et d'endocrinologie [CHU Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], University of Yaoundé [Cameroun], National Obesity Center [Yaoundé], Hôpital Central de Yaoundé [Yaoundé], Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Department of Medicine, Faculty of Health Sciences, National Advanced School of Engineering ( University of Yaounde I ), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital Lariboisière, and HAL-UPMC, Gestionnaire

Subjects
0301 basic medicine, Male, Serum, Blood Glucose, Leptin, Endocrinology, Diabetes and Metabolism, Fat Body, Clinical Biochemistry, Blood lipids, Blood Pressure, Body Mass Index, Plasma, 0302 clinical medicine, Waist–hip ratio, Endocrinology, Prevalence, Medicine, Insulin, Homeostasis, Cameroon, Adiposity, 2. Zero hunger, education.field_of_study, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Fasting, Middle Aged, Insulin sensitivity, Lipids, 3. Good health, Blood, Cholesterol, Obesity, Abdominal, Regression Analysis, Female, Adiponectin, Waist Circumference, medicine.medical_specialty, Population, Adipokine, 030209 endocrinology & metabolism, Medical Biochemistry, 03 medical and health sciences, Insulin resistance, Adipokines, Internal medicine, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Humans, Obesity, education, Triglycerides, Lipidology, Biochemistry, medical, Homo sapiens, business.industry, Waist-Hip Ratio, Research, Biochemistry (medical), nutritional and metabolic diseases, Cholesterol, LDL, medicine.disease, 030104 developmental biology, Cross-Sectional Studies, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Obesity indices
Abstract

International audience; BackgroundThere is little data on the metabolic effects of adipokines in sub-Saharan African populations. This study aimed to explore the potential relationship of leptin and adiponectin, with obesity, plasma lipids and insulin resistance in a Cameroonian population.MethodsWe enrolled 167 men and 309 women aged ≥18 years from the general population in Cameroon. Data were collected on waist circumference (WC), body mass index (BMI), waist-to-hip ratio (WHR), body fat (BF%), fasting blood glucose, plasma lipids, adiponectin, leptin, insulin and homeostasis model for assessment of insulin resistance (HOMA-IR). Pearson’s correlation and multiple stepwise linear regression analyses were used to determine correlates of leptin and adiponectin serum levels.ResultsThe prevalence of obesity was higher in women compared to men (p

Published
2016
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4. Osteoprotegerin in relation to insulin resistance and blood lipids in sub-Saharan African women with and without abdominal obesity

Author

Jean François Gautier, Mickael Essouma, Eugene Sobngwi, Laurent Serge Etoundi Ngoa, Clarisse Noël Ayina Ayina, Jean Jacques Noubiap, Philippe Boudou, Department of animal science, Université de Douala, Department of internal medicine and specialties, Université de Yaoundé I, Laboratory for molecular medicine and metabolism, National Obesity Center [Yaoundé], Hôpital Central de Yaoundé [Yaoundé], Department of medicine, Groote Schuur and Red Cross Children's Hospital, Medical diagnostic center, Yaoundé, Department of hormaonal biology, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of diabetes and endocrinology, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medicine, Faculty of Health Sciences, Administateur, HAL Sorbonne Université, Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université de Yaoundé I [Yaoundé], Centre de Recherche des Cordeliers ( CRC ), and Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Blood Glucose, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Fat Body, Blood lipids, Blood Pressure, Receptors, Tumor Necrosis Factor, Body Mass Index, Insulin, Homeostasis, Abdominal obesity, 2. Zero hunger, Immunoassay, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Diabetes, Fasting, Lipids, Blood, Cholesterol, Obesity, Abdominal, Regression Analysis, medicine.symptom, Waist Circumference, Lipoproteins, HDL, Risk, musculoskeletal diseases, medicine.medical_specialty, Waist, Short Report, Insulin resistance, Metabolic Diseases, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Obesity, Bone Resorption, Homo sapiens, business.industry, Cholesterol, HDL, Sub-Saharan Africans, Osteoprotegerin, Cholesterol, LDL, medicine.disease, Endocrinology, Cross-Sectional Studies, business, Lipid profile, Body mass index, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Background : Osteoprotegerin (OPG), a soluble member of the tumor necrosis factor receptor superfamily that inhibits bone resorption, has been suggested as a potential marker of cardiovascular risk. This study aimed to assess the relationship between insulin resistance, lipid profile and OPG levels in obese and non-obese sub-Saharan African women.Methods :Sixty obese (44) and non-obese (16) volunteer women aged 18 to 40 years were recruited in this cross-sectional study. Their clinical (age, height, weight, waist circumference, systolic and diastolic blood pressures) and biochemical parameters (fasting blood glucose, total cholesterol, high density lipoprotein-cholesterol (HDL-C)) were measured using standard methods. Insulin levels were measured using an electrochemiluminescence immunoassay, while OPG levels were measured using the ELISA technique. Low density lipoprotein-cholesterol (LDL-C), body mass index (BMI) and Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) were calculated using standard methods. Abdominal obesity was defined as a waist circumference ≥ 80 cm.Results : OPG levels were higher in obese than in normal subjects, though the difference was not significant (p = 0.9). BMI, waist circumference, percent body fat and systolic blood pressure were significantly higher in obese than in non-obese subjects (p

Published
2015
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5. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Author

Hélène Dollfus, Victoria Murday, Pierre Sarda, E. Raffo, Patrick Edery, Alain Sarasin, Jacqueline Vigneron, D. Gubser-Mercati, Andrew R. Gennery, Karen Fieggen, Vincent Laugel, Valérie Drouin-Garraud, F. Sauvanaud, Dominique Martin-Coignard, Hubert Journel, Louise Brueton, John Tolmie, Marie-Claire Vincent, Alan R. Lehmann, Delphine Héron, Benoît Funalot, Stanislas Lyonnet, D. Pham, Jean-Marc Egly, Mustafa A. Salih, Sylvie Odent, U. Kristensen, E. Muñoz, Agnès Bloch-Zupan, Heather Fawcett, Edward S. Tobias, J. Sanchez del Pozo, Blanca Gener, Brigitte Chabrol, Lina M. Ramos, M. Durand, Cecile Dalloz, Zornitza Stark, K. Prescott, Laurent Pasquier, Mehrdad Noruzinia, Valérie Cormier-Daire, Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de diagnostic génétique, CHU Strasbourg, Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], CHU Pontchaillou [Rennes], Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Medical Genetics, Hospital de Cruces, Division of Developmental Medicine, Royal Hospital for Sick Children, Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service de Pédiatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Consultation de Génétique, Neurologie Pédiatrique, Hôpital neuchâtelois, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Department of Clinical Genetics, Birmingham Women's Hospital, Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Department Neurology, Hospital Clinic, Department of Pediatrics, Newcastle General Hospital, Division of Pediatric Neurology, King Saud University [Riyadh] (KSU), Department of Hematology, Tarbiat Modares University [Tehran], St James's University Hospital, Pediatric Hospital, Genetic Health Services Victoria, Groote Schuur and Red Cross Children's Hospital, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Unité de Génétique Médicale et Foetopathologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique, Hospices Civils de Lyon (HCL), Reference Centre for Oral Manifestations of Rare Diseases, Hôpitaux Universitaires de Strasbourg, Centre for Genome Damage and Stability, University of Sussex, Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Génétique Moléculaire et Hormonologie, Hôpital Pontchaillou, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CH Le Mans, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique-Hôpital Chubert, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Biomolécules Thérapies anti-tumorales ( EA4021 ), Université de Limoges ( UNILIM ) -Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST FR CNRS 3503 ), Centro de Biología Molecular Severo Ochoa ( CBMSO ), Universidad Autonoma de Madrid ( UAM ) -Consejo Superior de Investigaciones Científicas [Spain] ( CSIC ), King Saud University [Riyadh] ( KSU ), Tarbiat Modares University, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Hospices Civils de Lyon ( HCL ), Génomes et cancer ( GC (FRE2939) ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), and De Villemeur, Hervé

Subjects
Molecular Sequence Data, Prenatal diagnosis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, medicine.disease_cause, Bioinformatics, Cockayne syndrome, 03 medical and health sciences, Structure-Activity Relationship, 0302 clinical medicine, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Databases, Genetic, Genetics, medicine, Missense mutation, Coding region, Humans, Amino Acid Sequence, [ SDV.BDD ] Life Sciences [q-bio]/Development Biology, Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, DNA Helicases, medicine.disease, 3. Good health, ERCC8, DNA Repair Enzymes, ERCC6, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, Sequence Alignment, 030217 neurology & neurosurgery, Transcription Factors
Abstract

MMNP; International audience; Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair pathway. The clinical spectrum of Cockayne syndrome encompasses a wide range of severity from severe prenatal forms to mild and late-onset presentations. We have reviewed the 45 published mutations in CSA and CSB to date and we report 43 new mutations in these genes together with the corresponding clinical data. Among the 84 reported kindreds, 52 (62%) have mutations in the CSB gene. Many types of mutations are scattered along the whole coding sequence of both genes, but clusters of missense mutations can be recognized and highlight the role of particular motifs in the proteins. Genotype-phenotype correlation hypotheses are considered with regard to these new molecular and clinical data. Additional cases of molecular prenatal diagnosis are reported and the strategy for prenatal testing is discussed. Two web-based locus-specific databases have been created to list all identified variants and to allow the inclusion of future reports (www.umd.be/CSA/ and www.umd.be/CSB/).

Published
2010
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6. Scurvy masquerading as IgA vasculitis.

Author

Kassa HL, Singh S, Douglas-Jones M, Schermbrucker G, De Lange J, Phoya F, Butters C, Hlela C, Coetzee A, Banderker E, and Webb K

Subjects
Humans, Male, Adolescent, Diagnosis, Differential, IgA Vasculitis diagnosis, Scurvy diagnosis, Ascorbic Acid therapeutic use
Abstract

Background: Vitamin C deficiency, or scurvy, is rare but poses risks for children with poor diets, limited resources, or malabsorption issues. It may also be common in children with restrictive or selective dietary habits in children with global developmental delay, autism spectrum disorder, and physical disabilities. Symptoms include fatigue, irritability, joint and muscle pain, joint swellings, edema, swollen gums, easy bruising, and delayed wound healing. Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children., Case Presentation: We present a case of a 13-year-old boy with developmental delay secondary to Lennox Gastaut syndrome referred for suspected recurrent, severe, and atypical IgA vasculitis. He presented with irritability, loss of appetite, petechial and ecchymotic lower limb lesions, unilateral gum swelling, severe arthritis, peripheral oedema, severe weight loss, anaemia, and raised inflammatory markers. Multiple investigations were performed before the diagnosis of scurvy was made. A surgical finding of friable gingival tissue with multiple loose teeth, a skin biopsy with follicular hyperkeratosis and extravasated perifollicular red blood cells, and a typical X-ray finding led to the diagnosis of scurvy., Conclusion: Scurvy should be given careful consideration as a differential diagnosis in patients presenting with musculoskeletal issues, mucocutaneous complaints, and constitutional symptoms such as malaise, asthenia, irritability, and loss of appetite. A focused and detailed dietary history looking for a lack of good sources of vitamin C can be an easy indicator of this differential. Imaging studies revealing the typical features can also help make the diagnosis. Pathology of the skin revealing pathognomonic features can add to the certainty of the diagnosis. In the absence of all else, the rapid response to treatment with an appropriate dose of vitamin C has a diagnostic and therapeutic role., (© 2024. The Author(s).)

Published
2024
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7. The Role of HIF1α-PFKFB3 Pathway in Diabetic Retinopathy.

Author

Min J, Zeng T, Roux M, Lazar D, Chen L, and Tudzarova S

Subjects
Glycolysis, Humans, Mitochondria physiology, Neovascularization, Pathologic etiology, Neurodegenerative Diseases etiology, Oxygen Consumption, Reactive Oxygen Species metabolism, Retina metabolism, Signal Transduction physiology, Diabetic Retinopathy etiology, Hypoxia-Inducible Factor 1, alpha Subunit physiology, Phosphofructokinase-2 physiology
Abstract

Diabetic retinopathy (DR) is the leading cause of blindness for adults in developed countries. Both microvasculopathy and neurodegeneration are implicated in mechanisms of DR development, with neuronal impairment preceding microvascular abnormalities, which is often underappreciated in the clinic. Most current therapeutic strategies, including anti-vascular endothelial growth factor (anti-VEGF)-antibodies, aim at treating the advanced stages (diabetic macular edema and proliferative diabetic retinopathy) and fail to target the neuronal deterioration. Hence, new therapeutic approach(es) intended to address both vascular and neuronal impairment are urgently needed. The hypoxia-inducible factor 1α (HIF1α)-6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (PFKFB3) pathway is critically implicated in the islet pathology of diabetes. Recent evidence highlighted the pathway relevance for pathologic angiogenesis and neurodegeneration, two key aspects in DR. PFKFB3 is key to the sprouting angiogenesis, along with VEGF, by determining the endothelial tip-cell competition. Also, PFKFB3-driven glycolysis compromises the antioxidative capacity of neurons leading to neuronal loss and reactive gliosis. Therefore, the HIF1α-PFKFB3 signaling pathway is unique as being a pervasive pathological component across multiple cell types in the retina in the early as well as late stages of DR. A metabolic point-of-intervention based on HIF1α-PFKFB3 targeting thus deserves further consideration in DR., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.)

Published
2021
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8. Infographic: Impact of HIV on spontaneous spondylodiscitis.

Author

Dunn RN, Castelein S, and Held M

Subjects
AIDS-Related Opportunistic Infections epidemiology, Discitis epidemiology, Humans, Incidence, South Africa epidemiology, Tuberculosis, Osteoarticular epidemiology, AIDS-Related Opportunistic Infections complications, Discitis microbiology, Tuberculosis, Osteoarticular complications
Published
2019
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9. Impact of HIV on spontaneous spondylodiscitis.

Author

Dunn RN, Castelein S, and Held M

Subjects
Adolescent, Adult, Aged, Discitis therapy, Female, HIV Infections epidemiology, Humans, Incidence, Magnetic Resonance Imaging, Male, Middle Aged, Retrospective Studies, Risk Factors, South Africa epidemiology, Young Adult, Discitis microbiology, HIV Infections complications, Tuberculosis, Spinal epidemiology
Abstract

Aims: HIV predisposes patients to opportunistic infections. However, with the establishment of Highly Active Anti-Retroviral Therapy (HAART), patients' CD4 counts are maintained, as is a near normal life expectancy. This study aimed to establish the impact of HIV on the bacteriology of spondylodiscitis in a region in which tuberculosis (TB) is endemic, and to identify factors that might distinguish between them., Patients and Methods: Between January 2014 and December 2015, 63 consecutive cases of spontaneous spondylodiscitis were identified from a single-centre, prospectively maintained database. Demographics, presenting symptoms, blood results, HIV status, bacteriology, imaging, and procedure undertaken were reviewed and comparisons made of TB, non-TB, and HIV groups. There were 63 patients (22 male, 41 female) with a mean age of 42.0 years (11 to 78; sd 15.0)., Results: In total, 53 patients had tuberculous, nine bacterial, and one cryptococcal spondylodiscitis. There were 29 HIV-positive patients, 29 HIV-negative patients, and five patients with unknown HIV status. The local incidence of TB spondylodiscitis was 1.54/100 000 and that of non-TB spondylodiscitis was 0.29/100 000 per annum. TB patients were younger with similar clinical presentation and infective markers, but were more likely to have a paraspinal abscess. They were also less likely to have a hyperintense disc on MRI. There was no difference between the two HIV groups., Conclusion: In areas of endemic TB and HIV, TB remains the most common cause of spondylodiscitis at five times the rate of non-tuberculous causes. HIV managed with HAART increases the rate of infection but does not influence the bacteriology unless there is a low CD4. There was little to differentiate the groups. TB /HIV co-infected patients were younger than non-TB and HIV-negative patients. Non-TB patients were more likely to have disc hyperintensity on MRI and TB patients were more likely to have abscess formation, but as both groups exhibited these features, neither was diagnostic. Culture confirmation remains necessary. Cite this article: Bone Joint J 2019;101-B:617-620.

Published
2019
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12. Paediatric Hodgkin lymphoma with Reed-Sternberg and mononuclear Hodgkin cells in the bone marrow aspirate.

Author

Swart L, Shuttleworth MH, Opie JJ, and van Schalkwyk WA

Subjects
Antineoplastic Combined Chemotherapy Protocols administration & dosage, Biopsy, Fine-Needle, Bleomycin administration & dosage, Child, Dacarbazine administration & dosage, Doxorubicin administration & dosage, Hodgkin Disease drug therapy, Humans, Vinblastine administration & dosage, Bone Marrow Cells metabolism, Hodgkin Disease pathology, Reed-Sternberg Cells pathology
Published
2012
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