Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidi...

Malignant melanoma in children is rare. It can arise from congenital melanocytic nevi. In pediatric patients, diagnosis of melanoma is difficult and challenging because the physicians have a low index of suspicion. Marrow metastasis in malignant melanoma especially in children is extremely uncommon. Here, the authors reported a 5 year old girl who was presented with a 4 month history of pelvic ...

Gastrointestinal Basidiobolomycosis (GIB) is an unusual, rare, but emerging fungal infection in the stomach, small intestine, colon, and liver.It has been rarely reported in the English literature and most of the reported cases have been from US, Saudi Arabia, Kuwait, and Iran. In the last five years, 17 cases have been reported from one or two provinces in Iran, and it seems that it has been u...

Malignant histiocytosis (MH) is a rare hematologic malignancy, especially in the first decade of life. The disease is clinically characterized by fever, hepatosplenomegaly, lymphadenopathy, pancytopenia and jaundice, and histologically by systemic proliferation of malignant histiocytes and hemophagocytosis. The prognosis is poor and often the diagnosis is not made before death. Because of ...

Development of cardiac allograft vasculopathy represents the major determinant of long-term survival in patients after heart transplantation. Due to graft denervation, these patients seldom present with classic symptoms of angina pectoris, and the first clinical presentations are progressive heart failure or sudden cardiac death. Although coronary angiography remains the routine technique for c...

Adrenocortical carticnoma (ACC) is a rare malignancy with an incidence of 0.7-2.0 cases/million habitants/year. The diagnosis of malignancy relies on careful investigations of clinical, biological, and imaging features before surgery and pathological examination after tumor removal. Most patients present with steroid hormone excess or abdominal mass effects, but 15% of patients with ACC is init...

A 69-year-old woman presented with a four-week history of facial and bilateral leg swelling. She also described symptoms of proximal myopathy. Her past medical history included osteoporosis and osteoarthritis. Routine medication was a weekly bisphosphonate, aspirin and St John’s Wort. Clinical examination identified bilateral pitting oedema to the knees and Cushingoid facies. Her blood pressure...

Mild acute pancreatitis has a low mortality rate, but patients with severe acute pancreatitis are more likely to develop complications and have a much higher death rate. Although serum amylase and lipase levels remain the most widely used diagnostic assays for acute pancreatitis, other biomarkers and inflammatory mediators such as trypsinogens are being investigated for clinical use. Ranson's c...

cell free dna (cfdna) is a genetic biomarker that is present in serum or plasma in high concentration in many types of cancer. identification of circu-lating cancer related dna molecules in serum or plasma is a non-invasive tool for early diagnosis and prognosis in many cancer patients. for this review, study selection and data extraction were performed by the authors. detection of point mutati...