نتایج جستجو برای: hereditary non
تعداد نتایج: 1390343 فیلتر نتایج به سال:
Purpose: Artisan iris-claw lens implantation (AICLI) is a surgical technique for treating ectopia lentis. We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without a diagnosable hereditary disease. Methods: Seventeen children with non-traumatic ectopia lentis were retros pectively classified into two gro...
Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-...
During a 2-year period, 31 cases of a hereditary retinal degeneration in dogs bred in India were found mainly suspected for progressive retinal atrophy (PRA) with typical history of initial nyctalopia followed by hemeralopia. Out of 31 PRA suspected dogs, 8 dogs (26%) were from the age group of 1-5 years, 15 (48%) 6-10 years and the rest (26%) 11-15 years. The most predominant breed was Spitz (...
Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of...
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