Steroid-resistant nephrotic syndrome (SRNS) is a clinically and genetically heterogeneous disorder caused by either genetic or immunological factors their combination. Approximately 30-40% of patients with SRNS make fast progression to end-stage renal disease (ESRD). represents the second leading cause ESRD in individuals under age 25 years worldwide. Patients typically exhibit focal segmental ...

Background: Polycystic ovary syndrome (PCOS) is a complex, heterogeneous disorder of uncertain etiology, with a prevalence of up to 10% and frequently associated with obesity, with at least 50% of women with polycystic ovary syndrome demonstrating overweight or obesity defined by body mass index >25 or >30 kg/m2. The syndrome is associated with numerous morbidities, including infertility, obste...

the hereditary ataxias are a group of genetically defined neurological diseases which are characterized by heterogeneous clinical presentations. ataxia is defined as imbalance and lack of coordination. mental retardation associated with ataxia has been reported in some of the known and recently identified syndromes. in this review, we describe some known and novel genes that cause familial ment...

Postural tachycardia syndrome (POTS) is defined by a heart rate increment of 30 beats/min or more within 10 minutes of standing or head-up tilt in the absence of orthostatic hypotension; the standing heart rate is often 120 beats/min or higher. POTS manifests with symptoms of cerebral hypoperfusion and excessive sympathoexcitation. The pathophysiology of POTS is heterogeneous and includes impai...

The long QT syndrome affects predominantly younger people who demonstrate structurally normal hearts. The underlying defect in the long QT syndrome seems to be genetic mutations in the cardiac ionic channels responsible for generating action potentials. Genetic linkage mapping has identified six genes (designated LQT1-6) associated with the Romano-Ward syndrome; two of these genes (LQT1, LQT5) ...

Mild cognitive impairment (MCI) is a heterogeneous clinical syndrome for which no international diagnostic criteria have yet been established. Longitudinal studies have shown that many individuals who later develop dementia pass through a stage of MCI. We are following up 36 individuals who were initially diagnosed as having the memory-impaired primary degenerative type of MCI and therefore are...

At the molecular level, it is acknowledged that a TCM formula is often a complex system, which challenges researchers to fully understand its underlying pharmacological action. However, module detection technique developed from complex network provides new insight into systematic investigation of the mode of action of a TCM formula from the molecule perspective. We here proposed a computational...

budd-chiari syndrome is caused by the obstruction of the hepatic venous, with high mortality rate in nontreated cases. because the clinical presentation of this syndrome is nonspecific, is very important. contrast enhanced multiphase computed tomography (ct) and magnetic resonance (mr) angiography permits morphologic and functional assessment of liver changes in suspicious clinical setting. the...

In the acute respiratory distress syndrome, alveolar flooding by proteinaceous edema liquid impairs gas exchange. Mechanical ventilation is used as a supportive therapy. In regions of the edematous lung, alveolar flooding is heterogeneous, and stress is concentrated in aerated alveoli. Ventilation exacerbates stress concentrations and injuriously overexpands aerated alveoli. Injury degree is pr...