Pseudohypoparathyroidism is a rare inherited metabolic disorder that associated with parathormone resistance. Low serum calcium, high phosphates and raised levels suggesting resistance are biochemical characteristic features of . type 1 known as Albright’s hereditary osteodystrophy characterized by typical phenotype. This syndrome encompasses multiple clinical findings such brachydactyly, round...

background: hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. it comes from mutations in sarcomeric proteins. cardiac myosin-binding protein c3 is one of the critical genes in hypertrophic cardiomyopathy (hcm) and sudden cardiac death, accounting for about 20% of hcm-causing mutations. genetic testing is recommended in patients with hcm....

Bone biopsy is the gold standard for diagnosing the type and severity of renal osteodystrophy (ROD) in end-stage renal disease (ESRD) patients. In this article we review the indications, techniques, and complications of this minimally invasive procedure. The importance of careful preparation is emphasized.

Fifty two of 63 patients with renal osteodystrophy had one or more mononuclear cells positive for acid phosphatase in the marrow. These cells are also tartrate resistant and non-specific esterase negative, and are believed to be precursors to osteoclasts and other acid phosphatase positive cells resorbing bone on the trabecular surface.

Abstract Vulvovaginal lichen planus is a type of chronic inflammatory dermatosis the vulva, usually seen as part widespread planus. The common clinical types vulval include papulosquamous, erosive, and pigmented types. Hypertrophic vulva rare entity. We report case hypertrophic

Renal secondary hyperparathyroidism is a common sequela of chronic renal failure in the dog, but is not commonly observed in juvenile patients. A 6 month old female Labrador retriever with juvenile nephropathy and associated renal osteodystrophy is presented. Older dogs with this condition typically have highly pliable facial bones due to increased parathormone-induced osteoclastic activity sub...