Yonsei medical journal
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Yonsei medical journal · Nov 2011
Case ReportsPrenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.
Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations.
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Recently, the geriatric population in Korea has grown to comprise approximately 10% of the total population, and anemia has become a significant problem among elderly patients. Many elderly patients have anemia due to nutritional deficiency, chronic inflammation, or comorbid diseases; however, in a significant fraction of the patients with anemia, the cause remains obscure. Anemia of any degree is recognized as a significant independent contributor to morbidity and mortality in elderly patients. This article summarizes the patterns of anemia in Korean geriatric patients.
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Dietary supplementation with nutrients enhancing immune function is beneficial in patients with surgical and critical illness. Malnutrition and immune dysfunction are common features in hospitalized patients. Specific nutrients with immunological and pharmacological effects, when consumed in amounts above the daily requirement, are referred to as immune-enhancing nutrients or immunonutrients. ⋯ Therefore it is considered conditionally essential under these conditions. This review discusses the physiological role of glutamine, mode and dose for glutamine administration, as well as improvement of certain disease state after glutamine supplementation. Even though immunonutrition has not been widely assimilated by clinicians other than nutritionists, immunonutrients including glutamine may exert beneficial influence on diverse patient populations.
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Yonsei medical journal · Nov 2011
Gender differences in relationship between fat-free mass index and fat mass index among Korean children using body composition chart.
This study aimed to investigate gender differences in the relationship between fat-free mass index (FFMI) and fat mass index (FMI) by applying body composition chart on Korean elementary students. ⋯ Boys are leaner than girls, despite having similar BMI. Gender difference in the direction of the change of the FFMI and FMI relationship is evident in children.
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Yonsei medical journal · Nov 2011
The association of SERPINE2 gene with COPD in a Chinese Han population.
Polymorphisms of several candidate genes have been studied and associated with the development of chronic obstructive pulmonary disease (COPD). One such candidate is the SERPINE2 (Serpin peptidase inhibitor, clade E member 2) gene. ⋯ Our data suggested that there was no significant association between SERPINE2 polymorphism and COPD susceptibility in the Chinese Han population.