نتایج جستجو برای: alports syndrome

تعداد نتایج: 621914  

Atyeh Ebadi Behrooz Barikbin Zahra Saffarian

Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.

حبیب زاده, حسین, قانعی قشلاق, رضا, همتی مسلک پاک, معصومه,

Introduction: Restless legs syndrome is a neurological disorder hemodialysis patients seem to suffer more from this syndrome. Although the pathophysiology of restless legs syndrome is still unknown, assessment of factors associated with this syndrome can help to develop medical knowledge in this field. The present study assessed the relationship between restless legs syndrome, serum iron, and s...

حسینی, مصطفی , دانشی مسکونی, میلاد , صدرزاده یگانه, هاله , عزیزی, سمانه ,

Background: Food insecurity refers to the inability to afford enough food for an active, healthy life. The metabolic syndrome, otherwise known as syndrome X or the insulin resistance syndrome, is a collection of cardiovascular risk factors including hypertriglyceridemia, lowered HDL-cholesterol, glucose intolerance, abdominal obesity and hypertension. Recent studies indicate widespre...

Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract.  This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...

Journal: :مجله دیابت و متابولیسم ایران 0
h fakhrzadeh p ebrahim pour m nouri r pourebrahim r heshmat p shoushtarizadeh

introduction: metabolic syndrome includes obesity, hypertriglyceridemia, glucose intolerance, hypertension and lipid profile abnormalities. the risk of cardiovascular diseases with this syndrome is higher than every components alone. in view of its burden and high mortality rate, this syndrome should be noted. methods: the 25-64 aged individuals in 17th zone of tehran were studied. it was desig...

احسانی‌پور, فهیمه,

    Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...

اسلامی, ابوالقاسم, رودپیما, شهلا,

Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...

Journal: :genetics in the 3rd millennium 0
roxana kariminejad mohammad hassan kariminejad

total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. moreover, the clinical course and t...

Journal: :genetics in the 3rd millennium 0
sorush ghafurian

genetic basis of diffrent arrhythmias has always been an intresting subject of resesrch for scientists. here i will review in brief the most common familia arrhythmias and the new findings regarding their mode of inhetitance. this paper will mainly focus on the genetic basis of the long qt syndromes but we will also have a short review of the genetics of three other familia congenital arrhythmo...

Journal: :acta medica iranica 0
m. ghaffarpour s. s. hejazie m. h. harirchian h. pourmahmoodian

adverse effects of antiepileptic drugs including cutaneous reactions may not only affect the result of treatment and quality of life, but can also be fatal if severe. skin rash is more likely to occur during the first few months of treatment. the objective of this study was description of skin rashes in users of four antiepileptic drugs. we identified skin rashes of phenytoin, carbamazepine, so...

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