pelizaeus­-merzbacher-like disease (pmld) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. mutations in the gja12/gjc2 gene cause one form of autosomal recessive pelizaeus­-merzbacher-like disease. here, we report a new mutation in a ­10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second ...

cardiovascular disease (cad) screening in asymptomatic patients with diabetes mellitus is controversial. an exercise stress test is a safe and effective initial testing for ischemic heart disease (ihd) screening. treadmill stress test is not the best screening method for a particular patient who is not able to exercise, abnormal electrocardiogram (ecg) or positive exercise treadmill test (ett) ...

the ideal approach for adequate management of subclinical hyperthyroidism (low levels of thyroid-stimulating hormone [tsh] and normal thyroid hormone level) is a matter of intense debate among endocrinologists. the prevalence of low serum tsh levels ranges between 0.5% in children and 15% in the elderly population. mild subclinical hyperthyroidism is more common than severe subclinical hyperthy...

abstract introduction : celiac disease (cd) is an autoimmune disorder triggered by ingestion of gluten in genetically predisposed individuals.  this study reports evaluated prevalence of cd in patients with beta-thalassemia major. materials and methods: in this case-control study in a period of 3 years  which was performed on 620 children in two groups of  beta-thalassemia major  patients (n=20...

background : approach to the small intestine has been difficult even with newer methods. double-balloon enteroscopy (dbe) has been created for diagnostic and therapeutic interventions in diseases of the small intestine. small intestinal diseases have different etiologies in each country. the dbe has been introduced in recent years in iran. our aim was to study the indications and results of dbe...

inflammatory bowel diseases are one of the important reasons of the referral to gi practitioners in our country and ulcerative colitis is the more frequent type of these disease in iran. in this study 200 cases of ulcerative colitis, which has been referred to imam khomeini hospital during that last 5 year, were studied. data was collected using the patient's records and face to face inter...

objectives the current study aimed to estimate the prevalence of ihd in the families of children with kd. patients and methods sixty-one children with kawasaki disease were admitted from december 21, 2004 to january 21, 2008to mofid children hospital (from one month to thirteen-year old) and 50 patients entered the study. subjects were divided into the severe (24subjects) and non-severe (26 sub...

during a period of four years between june, is, 1988 to june, is, 1992 one hundred and fourteen patients with congestive heart failure (chf) were admitted to the pediatric department of taleghani general hospital. during the above period, 192 patients with heart disease were hospitalized at this department and chf was the cause of admission in 59.4% of them. congenital heart disease (cho) was t...

the peak age of onset of inflammatory bowel disease (ibd) is simultaneous with the peak reproductive years. patients have many concerns about the impact of ibd on fertility and pregnancy outcomes. the most important reason for voluntary childlessness is the fear of side effects from medications for ibd. decision making for medical therapy is a complex equation. it is important to summarize avai...