Publications by authors named "A Oussalah"
Vitamin B deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B deficiency in our patient, illustrates the usefulness of performing large panel clinical exome sequencing.
View Article and Find Full Text PDFArticle Synopsis
- Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
- A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
- The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
Aim: This study evaluated the bias and accuracy of the CKD-EPI/CKiD and EKFC equations compared with the reference exogenous tracer-based assessment of glomerular filtration rate (GFR) in adult and pediatric patients according to their renal transplant status.
Methods: We assessed the bias and P accuracy of the CKD-EPI/CKiD and EKFC equations compared with iohexol-based GFR measurement.
Results: In the overall population (n = 59), the median age was 29 years (IQR, 16.
Article Synopsis
- Renal dysfunction frequently occurs in patients with cirrhosis, either due to acute illness or the progression of liver disease, but comprehensive evaluations of renal function markers have not been thoroughly studied.
- A retrospective study was conducted on hospitalized cirrhosis patients from January 2021 to June 2023, involving a detailed assessment of renal function across 43 parameters.
- The findings revealed that most patients exhibited renal abnormalities, with significant overestimations in estimated glomerular filtration rates compared to measured creatinine clearance, highlighting the importance of multiparametric assessments for properly evaluating kidney function in these patients.*