AIM Limited joint mobility and plantar pressure in the foot has not been assessed in type 1 diabetes. The aim of this study was to investigate the joint mobility and plantar foot pressure in Asian Indian type 1 diabetic subjects and to see its association with duration of diabetes. MATERIAL AND METHODS The joint mobility and plantar pressure were measured in 115 consecutive subjects attending...

BACKGROUND AND DESIGN The hyperimmunoglobulinemia D (hyper-IgD) syndrome is characterized by recurrent febrile attacks with abdominal distress, headache, and arthralgias. Physical examination reveals cervical lymphadenopathy in most cases and, sometimes, splenomegaly. Skin lesions have been observed in isolated cases during attacks. We summarize the features of skin lesions and the histopatholo...

BACKGROUND Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job(`)s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome. CASE PRESENTATION A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of ...

BACKGROUND Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incide...

The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations...

Ovarian fibromas are the most common benign solid ovarian tumors, which preoperative diagnosis often is difficult. Ovarian fibromas, especially in bilateral cases, may be representative of Gorlin syndrome.Gorlin syndrome (GS) is a rare autosomal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. To report a case of a young patien...

elevated serum level of bilirubin is a common manifestation which is occurred in several diseases. hyperbilirubinemia can manifest either conjugated or unconjugated. conjugated or direct hyperbilirubinemia usually are caused by hepatocellular diseases or cholestatic liver diseases. merely conjugated hyperbilirubinemia is the main manifestation of two congenital syndromes, including dubin-johnso...

Kidney disease due to Aspergillus fumigatus is a rare finding in hyper-IgE syndrome. We report a patient with autosomal dominant hyper-IgE syndrome, recurrent pneumonia, and acute necrosuppurative pyelonephritis caused by Aspergillus fumigatus with a fatal outcome. We emphasize the severity and the difficulties in the management of renal complications that could be limiting the survival of thes...

The hyperimmunoglobulinemia D and periodic fever (hyperIgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (>l00 U/mL). This familial disorder has been diagnosed in 59 patients, mainly from Europe. The pathogenesis of this febrile disorder is unknown, but attacks are jo...