Publications by authors named "Bendelac L"
Gardos channelopathy (Gardos-HX) or type 2 stomatocytosis/xerocytosis is a hereditary hemolytic anemia due to mutations in the gene. It is rarer than inherited type 1 xerocytosis due to mutations (Piezo1-HX) and its diagnosis is difficult given the absence of a specific clinical or biological phenotype. We report here that this diagnosis can be sped up using red blood cell (RBC) indices performed on an ADVIA 2120 (Siemens) analyzer, which measures reticulocyte mean corpuscular volume (rMCV) and mean corpuscular hemoglobin concentration (rMCHC).
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- - The study analyzed 126 individuals from 64 families with hereditary xerocytosis, revealing various clinical, hematologic, and genetic characteristics including specific mutations like p.Arg352His and new probable pathogenic variations.
- - Key symptoms for diagnosis included persistent hemolysis after spleen removal and increased ferritin levels, along with significant risk factors for thrombotic events post-splenectomy and severe anemia in related disorders, which differ from hereditary xerocytosis.
- - Findings highlight that hereditary xerocytosis and Gardos channelopathy are distinct conditions with shared features like hemolysis and iron overload, emphasizing the need for improved diagnosis and management strategies for affected patients.
Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms of FASD. Retinoic acid deficiency has been shown to cause craniofacial malformations and microcephaly in animal models reminiscent of those caused by prenatal alcohol exposure.
View Article and Find Full Text PDFAlcohol consumption during pregnancy induces Fetal Alcohol Spectrum Disorder (FASD), which has been proposed to arise from competitive inhibition of retinoic acid (RA) biosynthesis. We provide biochemical and developmental evidence identifying acetaldehyde as responsible for this inhibition. In the embryo, RA production by RALDH2 (ALDH1A2), the main retinaldehyde dehydrogenase expressed at that stage, is inhibited by ethanol exposure.
View Article and Find Full Text PDF[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura].
Arch Pediatr
November 2015
Henoch-Schönlein purpura is a common form of immunological vasculitis in children. Hemophilia A is a genetic disorder, inherited in a X-linked recessive pattern, and characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII deficiency. The clinical signs depend on the severity of factor VIII deficiency.
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- Hemophilia A (HA) is a genetic bleeding disorder caused by a deficiency in factor VIII, with diagnosis complicated by numerous mutations in the large F8 gene.
- Out of 180 mutations tracked in 515 patients from a single treatment center, researchers identified 95 novel mutations, including different types like missense and nonsense mutations.
- They developed a comprehensive mutation analysis approach that considers family history, clinical symptoms, and molecular effects of amino acid changes to better understand the role of these new mutations in HA.
The levels of anti-human and anti-porcine factor VIII inhibitors, measured in 63 severe haemophilia A patients, lay in the ranges of < 0.2-2,600 and < 0.2-1,300 Bethesda units per ml (BU/ml), respectively, with a median cross-reactivity of 33%.
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