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An extracellular vesicle based hypothesis for the genesis of the polycystic kidney diseases.
Extracell Vesicle
December 2024
The Jared Grantham Kidney Institute at the University of Kansas Medical Center, Department of Nephrology and Hypertension, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Autosomal dominant polycystic kidney (ADPKD) disease is the commonest genetic cause of kidney failure (affecting 1:800 individuals) and is due to heterozygous germline mutations in either of two genes, and . Homozygous germline mutations in are responsible for autosomal recessive polycystic kidney (ARPKD) disease a rare (1:20,000) but severe neonatal disease. The products of these three genes, (polycystin-1 (PC1 4302(3)aa)), (polycystin-2 (PC2 968aa)) and (fibrocystin (4074aa)) are all present on extracellular vesicles (EVs) termed, PKD-exosome-like vesicles (PKD-ELVs).
View Article and Find Full Text PDFPeripheral Neuropathy in Systemic Sclerosis with Proximal Nerve Involvement: Diagnostic Challenges and Response to Corticosteroid Therapy.
Mod Rheumatol Case Rep
January 2025
Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Osaka, Japan.
Peripheral neuropathy is a complication in systemic sclerosis that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with systemic sclerosis that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests.
View Article and Find Full Text PDFThe current study aimed to objectively evaluate the fit of a rectangular, tapered stem to the severely dysplastic hips on the basis of the proximal femoral anatomy and the dimensional properties of the stem. It was hypothesized that the stem size planned with accordance to the diaphyseal canal width alone can accommodate the distal femur successfully with no sizing mismatch. Forty-six patients (53 hips) suffering from secondary osteoarthritis due to hip dysplasia scheduled for total hip arthroplasty (THA) with a subtrochanteric transverse shortening osteotomy were included.
View Article and Find Full Text PDFExocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFModified Trochanteric Flip Osteotomy in Varus Intertrochanteric Osteotomy for Treatment of Legg-Calvé-Perthes Disease.
Children (Basel)
January 2025
Pediatric Orthopedics, Deformity Reconstruction and Foot Surgery, University Hospital Muenster, 48149 Muenster, Germany.
: Legg-Calvé-Perthes disease (LCPD) presents challenges in treatment due to its varied course and unclear etiology. This study aimed to evaluate the efficacy of combining proximal femoral varus osteotomy (PFVO) with a modified trochanteric flip osteotomy to address biomechanical consequences and improve hip abductor muscle strength. : We present a modified approach combining PFVO with a trochanteric flip osteotomy.
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