Publications by authors named "Stephanie Perez-Martin"
A less than one-month-old infant with symptoms of rhinitis died unexpectedly in his sleep. He was not born prematurely and had no known underlying disease. Cerebrospinal fluid, nasopharyngeal and lung samples, and rectal swab were found to be positive for subgroup A rhinovirus, while the blood was negative.
View Article and Find Full Text PDFOur study aimed to compare children under 5 years hospitalized with respiratory syncytial virus in prepandemic and late-pandemic periods. We included 209 children at the Dijon University Hospital (France). We observed a nearly 3-fold increase in the number of cases in the late period, with older children, but less frequently requiring intensive care.
View Article and Find Full Text PDFHomozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Clin Genet
November 2021
Article Synopsis
- - The study focuses on the use of array-CGH to identify new gene syndromes linked to intellectual disabilities by analyzing gene deletions, specifically looking at overlapping deletions on chromosome 9q33.3q34.11.
- - Researchers collaborated internationally to examine four patients with specific deletions, primarily involving genes STXBP1, LMX1B, and ENG, which are known to cause recognizable clinical effects when only one copy is present.
- - Common symptoms observed in the patients included intellectual disability, epilepsy, nail dysplasia, bone malformations, and specific facial features, underscoring the need for personalized medical follow-up for related health complications.
Objective: To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS).
Study Design: Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate.
Out of a series of 30 French patients with Pearson syndrome, we report on two patients with an atypical presentation, which include growth deficiency, pancytopaenia, tubulopathy and absence of exocrine pancreas dysfunction. Patient 1, a 4-year-old boy with a past history of pancytopaenia and transient metabolic acidosis at 13 months of age, presented at 2(1/2) years of age with severe tubulopathy of de Toni-Debré-Fanconi type, growth retardation, metabolic lactic acidosis and mild cytolysis. Despite normal exocrine pancreatic function, study of mitochondrial DNA revealed a 3.
View Article and Find Full Text PDFMultidrug-resistant was recovered from the sputum of a patient with cystic fibrosis. The VEB-1 extended-spectrum β-lactamase was detected on a class 1 integron. This first report of a VEB-1–producing isolate in this population requires further investigation to determine its distribution.
View Article and Find Full Text PDF