نتایج جستجو برای: early onset

تعداد نتایج: 826058  

Behnam Kamalidehghan, Maryam Sedghi, Massoud Houshmand, Narges Nouri, Nayereh Nouri, Omid Aryani,

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

Bandagi-Motlagh, Mahsa, Abedzadeh-Kalahroudi, Masoumeh , Akbari, Hossein , Mesdaghinia, Elahe , Tabasi, Zohreh ,

Background and Objective: Preeclampsia is one of the most critical complications of pregnancy observed in 2%-8% of all pregnancies. Severe preeclampsia has many maternal and neonatal complications that are more prevalent in early-onset preeclampsia. The present study aimed to determine the prevalence of maternal and neonatal outcomes of expectant management of severe preeclampsia before 34 week...

Afagh Hassanzadeh Rad, Fatemeh Kharaee, Mahsa Karambin, Maryam Shahrokhi, Reza Bayat, Saber Najafi Chakoosari, Setila Dalili, Shahin Koohmanaee,

Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

Journal: :iranian journal of basic medical sciences 0
nahid karimian fathi medical genetic department medical faculty, tabriz university of medical sciences, tabriz, iran mahmood shekari khaniani medical genetic department medical faculty, tabriz university of medical sciences, tabriz, iran vahid montazeri general surgery department medical faculty, tabriz university of medical sciences, tabriz, iran sima mansoori derakhshan medical genetic department medical faculty, tabriz university of medical sciences, tabriz, iran

objective(s): breast cancer is the most common cancer in women. every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. hereditary brca1 and brca2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. the aim of this study was to determine the frequency of brca2 (e...

Journal: :Archives of general psychiatry 2010
Luca Passamonti Graeme Fairchild Ian M Goodyer Georgina Hurford Cindy C Hagan James B Rowe Andrew J Calder

CONTEXT Conduct disorder (CD) is characterized by severe antisocial behavior that emerges in childhood (early-onset CD [EO-CD]) or adolescence (adolescence-onset CD [AO-CD]). Early-onset CD is proposed to have a neurodevelopmental basis, whereas AO-CD is thought to emerge owing to social mimicry of deviant peers. However, this developmental taxonomic theory is debated after reports of neuropsyc...

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