A5069415088- Genomics and Rare Diseases
- CNS Lymphoma Diagnosis and Treatment
- Systemic Lupus Erythematosus Research
- Hemophilia Treatment and Research
- Platelet Disorders and Treatments
- COVID-19 Clinical Research Studies
- Genomic variations and chromosomal abnormalities
- Lymphoma Diagnosis and Treatment
- Cardiomyopathy and Myosin Studies
- Acute Myeloid Leukemia Research
- Autoimmune and Inflammatory Disorders Research
- Genetics and Neurodevelopmental Disorders
- Complement system in diseases
- Glioma Diagnosis and Treatment
- Tuberous Sclerosis Complex Research
- Long-Term Effects of COVID-19
- Cancer Genomics and Diagnostics
- Iron Metabolism and Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Epigenetics and DNA Methylation
- Chromatin Remodeling and Cancer
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Muscle Physiology and Disorders
- Heparin-Induced Thrombocytopenia and Thrombosis
Groupe Hospitalier de la Région de Mulhouse et Sud Alsace
2016-2024
Centre Hospitalier Universitaire de Saint-Étienne
2018-2024
Hôpital Nord
2020-2024
Centre Hospitalier de Mulhouse
2010-2023
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
Inserm
2018
University of Monastir
2017
Background Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains first-line diagnostic test in most rare disorders workup, looking for copy number variations (CNVs), with a yield 10%–20%. The question equivalence CMA WES CNV calling is an organisational economic question, especially when ordering WGS after negative and/or WES. Methods This study measures between GATK4 depth coverage method detecting coding CNVs on retrospective cohort...
PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation Drosophila melanogaster. By exome genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants 16 individuals from 12 unrelated families. The presented with moderate profound developmental delay, often refractory early-onset epilepsy, progressive microcephaly. Further common clinical findings included muscular hyper- hypotonia, spasticity, failure...
Central nervous system lymphomas are aggressive tumors requiring a prompt diagnosis for successful treatment. Stereotactic biopsy remains the standard procedure, but time needed histopathology is usually over 2 days. We evaluated contribution of cytomorphology and flow cytometry to brain in particular on rinse fluid removed.Eighteen patients with suspected localized lymphoma underwent stereotactic biopsy. Brain tissue sample and/or were analyzed by combined cytometry. Histopathology was used...
Antiphospholipid (aPL) antibodies can arise transiently at times of viral diseases. The objective this work was to evaluate the incidence aPL in patients hospitalized conventional unit for coronavirus disease 2019 (COVID-19) infection and confirmed venous thromboembolic events (VTE) associated with antibodies. 41 infected COVID-19 were tested None had reported history syndrome. Arterial duplex ultrasound lower limbs performed all Day 0 5. All antithrombotic-prophylaxis upon admission using...
Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such fetus presents UPD has been previously estimated to be around ~0.6-0.8%. However, because are rare events and this estimate calculated from number of studies limited size, we have reevaluated the for whom one parents was known carry nonhomologous ROB...
(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme heme biosynthesis. The phenotype ranges extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed CEP cases recorded France order analyse their various presentations and evolution. (2) Methods:...
Abstract Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss muscle fibers that begins in the distal parts arms and legs. Recently, variants new disease gene, ACTN2 , have been shown to cause myopathy. gene previously only associated with cardiomyopathies, encodes alpha-actinin-2, protein expressed both cardiac skeletal sarcomeres. The primary function alpha-actinin-2 is link actin titin sarcomere Z-disk. New continuously discovered, however,...
Abstract Objective The objective of the study is to characterize pathomechanisms underlying actininopathies. Distal myopathies are a group rare, inherited muscular disorders characterized by progressive loss muscle fibers that begin in distal parts arms and legs. Recently, variants new disease gene, ACTN2 , have been shown cause myopathy. gene previously only associated with cardiomyopathies, encodes alpha‐actinin‐2, protein expressed both cardiac skeletal sarcomeres. primary function...
We report six cases of patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, admitted to intensive care unit (ICU), for whom bone marrow aspirate revealed hemophagocytosis. compared their clinical presentation and laboratory findings those that can be encountered during a hemophagocytic lymphohistiocytosis. These observations might evoke macrophage activation mechanism different from the one in lymphohistiocytosis (HLH). J Med Cases. 2020;11(7):211-214 doi:...