Publications by authors named "M A Fonseca-Sanchez"
Article Synopsis
- Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disorder characterized by symptoms like growth failure, rickets, and hypocalcemia, caused by mutations in a specific gene.
- A study focused on two Mexican siblings with unusual symptoms including cafe au lait spots and grayish sclera, alongside typical VDDR1A features, leading to genetic testing that identified both a recurrent variant and a novel nonsense variant in the affected gene.
- The findings highlight the first documented case of atypical VDDR1A in this family and suggest that certain genetic mutations may influence the severity of the condition, with the younger brother showing a better response to calcitriol treatment.
: Non-alcoholic fatty liver disease (NAFLD) is associated with obesity and ranges from simple steatosis to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis, and hepatocellular carcinoma. Accumulating evidence in animal models suggests that loss of interleukin-10 (IL-10) anti-inflammatory actions might contribute to lobular inflammation, considered one of the first steps toward NASH development. However, the role of IL-10 in lobular inflammation remains poorly explored in humans.
View Article and Find Full Text PDFOsteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes and , other genes such as have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity.
View Article and Find Full Text PDFThe main complication associated with renal graft loss is immune rejection. The gold standard for the diagnosis of renal graft rejection is percutaneous renal biopsy, which is expensive and can lead to complications. Inflammation is one of the main pathogenic pathways in allograft rejection, and urine samples seem to be efficient windows to explore the allograft condition with a high cost-benefit ratio.
View Article and Find Full Text PDFKidney transplant (KT) is the first therapeutic option for most patients with chronic renal failure that requires renal function replacement. The main complication associated with renal graft loss is immune rejection. The T regulatory pathways play a key role in this process, and abnormalities in some of these molecules could participate in the graft rejection.
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