Publications by authors named "F FENCL"
MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three AP1S1 nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated σ1A proteins, with consequent AP-1 dysfunction.
View Article and Find Full Text PDFIntroduction: Home parenteral nutrition (HPN) is the primary treatment modality for patients with chronic intestinal failure, one of the least common organ failures. This article provides a retrospective analysis of the data collected on HPN patients in the Czech Republic over the past 30 years.
Methods: National registry data were collected using a standardised online form based on the OASIS registry (Oley - A.
Article Synopsis
- Multisystem inflammatory syndrome in children (MIS-C) is a severe condition that can occur weeks after a COVID-19 infection, characterized by intense inflammation and immune response.
- In a study of MIS-C patients, researchers found increased levels of IFN-γ and BAFF, while the presence of certain autoantibodies indicated potential autoimmune links similar to systemic lupus erythematosus (SLE).
- The findings suggest that changes in B cell behavior and elevated BAFF may play a significant role in the immune response seen in MIS-C, pointing to possible connections with autoimmune disorders.
Article Synopsis
- Paroxysmal cold hemoglobinuria (PCH) is a rare childhood condition where cold temperatures trigger the breakdown of red blood cells, causing hemoglobin to leak into urine and potentially leading to kidney damage.
- A study was conducted analyzing the clinical and laboratory data of children diagnosed with PCH-related acute kidney injury at a pediatric hospital in Prague from 2016 to 2022, focusing on three specific cases that required renal replacement therapy.
- The findings emphasize the link between PCH and kidney disease, suggesting that regular testing of renal function and urine analysis is crucial for all children diagnosed with PCH.
Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case of a pediatric patient with Gitelman syndrome associated sudden cardiac arrest without precipitating event.
View Article and Find Full Text PDF