OBJECTIVES To evaluate progression of symptoms and joint mobility in the joint hypermobility syndrome (JHS) in order to identify specific disease pictures by age at presentation. METHODS Fifty JHS patients (44 females, 6 males) were evaluated by Beighton score (BS) calculation, and presence/absence and age at onset of 20 key symptoms. Incidence and prevalence rates by age at onset and sex wer...

background: defects in b cell class switch recombination (csr) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper igm (higm) syndrome. due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. objective: to shed some light on the morbidity and mortality regar...

Introduction Hyper-IgD with periodic fever syndrome (HIDS) is an autoinflammatory disease characterized by periodic episodes of fever, abdominal distress, joint pain, and skin rashes. IL-1 blockade was previously reported as effective in reducing the frequency of episodes and improving clinical symptoms.[,] We report the results of the study assessing the efficacy and safety of canakinumab, an ...

BACKGROUND Moderate joint laxity is widespread in many joints of the body, and this condition is considered to be caused by an abnormality in the collagen structure. This study was carried out to determine the serum prolidase activity in female patients with benign joint hypermobility syndrome (BJHS), and to evaluate its correlation with their clinical features. METHODS A total of 45 patients...

Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. Although BJHS has been well recognized in the rheumatology and orthopedic literature, it has not been discussed in the family medicine literature. Because most patients with musculoskeletal complaints are first se...

Pigmented villonodular synovitis is a rare and benign but potentially locally aggressive disease that should be considered in younger patients who present with monoarticular joint symptoms and pathology. We present a 30-year-old Sudanese woman with a huge mass arising from the right hip joint. A multimodality radiological approach to investigation and diagnosis is demonstrated and discussed. Hi...

background: release of vascular endothelial growth factor (vegf) by ovaries in response to hcg administration is one of the main mechanisms of ovarian hyper stimulation syndrome. since dopamine/dopamine receptor2 (dp-r2) pathway activity -mediated by vegf/ vascular endothelial growth factor receptor 2 (vegfr-2) signaling-, is associated with angiogenic events, dopamine agonists were used for th...

immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...

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