gene identification represents the first step to a better understanding of the physiological role of the underlying protein and disease pathways, which in turn serves as a starting point for developing therapeutic interventions. familial hypercholesterolemia is a hereditary metabolic disorder characterized by high low-density lipoprotein cholesterol levels. hypercholesterolemia is a quantitativ...

background: gastrointestinal and liver diseases (gilds) are major causes of death and disability in middle east and north africa (mena). however, they have different patterns in countries with various geographical, cultural, and socio-economic status. we aimed to compare the burden of gilds in iran with its neighboring countries using the results of the global burden of disease (gbd) study in 2...

crohn’s disease is an inflammatory bowel disease (ibd), characterized by chronic intestinal inflammation that causes the loss of immune tolerance leading to bizarre inflammatory signals and disruption of mucosal barriers. environmental triggers and interaction of genetic determinants also play an indispensible role. in this case report, we present a pre-pubertal girl with intermittent and refra...

background: the prevalence of vitamin d deficiency is higher in end-stage renal disease (esrd) patients compared to healthy populations. this deficiency could lead to several complications with different mechanisms and might result in reduced survival in patients. leptin and adiponectin are messenger proteins with endocrine secretion from adipocytes and various effects in cellular mechanisms. t...

conclusion most cte findings correlated with cdai and crp in patients with active crohn’s disease. background the accurate evaluation of crohn’s disease activity is important for the treatment of the disease and for monitoring the response. computerized tomography (ct) enterography is a useful imaging modality that reflects enteric inflammation, as well as extramural complications. objectives t...

background: the seladin-1 (selective alzheimer disease indicator-1), also known as dhcr24, is a gene found to be down-regulated in brain region affected by alzheimer disease (ad). whereas, hair follicle stem cells (hfsc), which are affected in with neurogenic potential, it might to hypothesize that this multipotent cell compartment is the predominant source of seladin-1. our aim was to evaluate...

background: parkinson’s disease (pd) is a progressive neurodegenerative disorder causing motor and non‑motor symptoms. the latter are common and include autonomic dysfunction, cognitive impairment, and sleep difficulties. many of the non‑motor aspects of pd such as sleep disturbance are more common and significantly affect the day‑to‑day activities of patients and their quality of life. the mos...

background: there is evidence that pulmonary function abnormalities are present in patients with inflammatory bowel disease (ibd). the aim of this case-control study was to assess the frequency of pulmonary dysfunction in patients with ibd. materials and methods: pulmonary function of 37 patients with ibd (8 with cd and 29 with uc) without any known pulmonary disease was tested by body-box plet...

abstract background: a tumefactive lesion of central nervous system (cns) is defined as a mass-like lesion with a size greater than 2 cm in brain (magnetic resonance imaging) mri. neuroimaging may help to distinguish the nature of a tumefactive lesion and therefore can prevent an unnecessary brain biopsy. method: in this paper, we have emphasized on determining the nature of a cns tumefactive l...

nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...