نتایج جستجو برای: genetic disorder
تعداد نتایج: 1161670 فیلتر نتایج به سال:
introduction: vulnerability has an important role in ptsd, which can be either genetic or acquisitive. according to research, the disorder coexists simultaneously with at least another psychiatric disorder and can be a disorder comorbid with a predictive factor, which influences the process from afflicting to medication. this study was performed to determine ptsd accompanying disorders in the p...
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
Tuberous sclerosis complex is a genetic disorder characterized by hamartoma formation in many organs. Its characteristic dermatologic manifestations include angiofibroma, shagreen patch, periungual fibroma and white macules. This disorder is usually accompanied by epilepsy and mental deficiency. Here, a 26-year-old man is presented who has been referred to a teaching hospital with a huge facial...
inhibitor development is a lifelong challenge for patients with bleeding disorders who received replacement therapy. most commonly, inhibitor formation was observed in hemophilia a patients but patients with rare bleeding disorders (rbd) especially patients with deficiency of factor xiii (fxiii) and factor v (fv) can develop an inhibitor against exogenous factors. several factors considered as ...
BACKGROUND Although genetic epidemiological studies have confirmed increased rates of major depressive disorder among the relatives of people with bipolar affective disorder, no report has compared the clinical characteristics of depression between these two groups. AIMS To compare clinical features of depressive episodes across participants with major depressive disorder and bipolar disorder...
BACKGROUND Bipolar disorder (BD) is a common psychiatric disorder with complex genetic architecture. It shares overlapping genetic influences with schizophrenia (SZ) and major depressive disorder (MDD). Large numbers of genetic studies of BD and cross-disorder studies between BD and SZ/MDD have accumulated numerous genetic data. There is a growing need to integrate the data to provide a compreh...
autism is a neurodevelopmental disorder, characterized by poor social interaction and communication impairment and repetitive behavior. autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved. herein, we report a 13-year-old male with common variable immunodeficiency (cvid), who was diagnosed with autism at the age of 3 years old. as there are some ...
today multinational studies using genome-wide association scan (gwas) for >1000,000 polymorphisms on >100,000 cases with major psychiatric diseases versus controls, combined with next-generation sequencing have found ~100 genetic polymorphisms associated with schizophrenia (scz), bipolar disorder (bd), autism, attention deficit and hyperactivity disorder (adhd), etc. however, the effect size of...
Pemphigus vulgaris is a blistering autoimmune disease with suprabasal cleft formation, which is the most common autoimmune blistering disease in eastern countries, such as Middle East. Predisposition to pemphigus is linked to genetic factors. Tuberous sclerosis is also a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney and heart. We report ...
The Frequency of Consanguinity and Its Related Factors in Parents of Children with Genetic Disorders
Background and Objective: Consanguinity increases the incidence of genetic disorders. The frequency of consanguinity varies in different societies. There was no data regarding the frequency of consanguinity in Zanjan province. This study aimed to describe the prevalence of consanguineous unions in the parents of children with genetic disorders and its related factors in Zanjan, Iran. Materials...
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