Journal of Korean medical science
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J. Korean Med. Sci. · Feb 2011
Case ReportsHaddad syndrome with PHOX2B gene mutation in a Korean infant.
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. ⋯ These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.
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J. Korean Med. Sci. · Feb 2011
Clinical characteristics and etiology of travelers' diarrhea among Korean travelers visiting South-East Asia.
The morbidity of travelers' diarrhea (TD) is still high. This study examined the incidence of common pathogens and characteristics of TD among Korean travelers who visited South-East Asian countries. We performed a prospective study involving 479 Korean travelers with diarrheal disease from February 2009 to April 2009 and stool samples were examined and questionnaire surveys were done after arrival. ⋯ A higher severity of disease corresponded to a significantly higher culture positivity rate (P = 0.029). We should consider the possibility of other pathogens in addition to ETEC in patients with TD who visit South-East Asia. Travelers need to educate about risk factors associated with TD.
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J. Korean Med. Sci. · Feb 2011
Gender differences in the effect of obesity on chronic diseases among the elderly Koreans.
The objective of this study is to investigate gender differences of obesity on major chronic diseases in elderly Korean males and females. This study applied a cross sectional design using the 2005 Korean National Health and Nutrition Examination Survey (KNHNES). We selected 508 elderly males and 830 elderly females who were 60 or more years old. ⋯ Similarly, using BMI, 42.2% of females were obese compared to 31.7% for males. While obese males and females had similar profiles for developing metabolic syndrome components including hypertension, dyslipidemia, and diabetes (odds ratios [ORs] were 1.8-2.6 for males and 1.7-2.5 for females), obese elderly females had additional risks for arthritis and urinary incontinence (ORs 1.5-1.8 for females) as well as higher prevalence for these diseases. A clearer understanding of gender differences in relation to the association between obesity and chronic diseases would be helpful for reducing the social burden of chronic diseases in the elderly.
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Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. ⋯ Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.
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J. Korean Med. Sci. · Feb 2011
Prevalence of allergic diseases and risk factors of wheezing in Korean military personnel.
The objective of this study was to evaluate the prevalence of asthma, allergic rhinitis, and atopic dermatitis, as well as the risk factors of wheezing among young adults in the Korean military. Young military conscripts in five areas completed a modified International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. For subjects with current wheeze in one sample area, baseline spirometry and bronchodilator response were measured. ⋯ Current wheeze was associated with family history of allergic disease, overweight, current smoking, allergic rhinitis, and atopic dermatitis. Of 36 subjects with current wheeze who underwent PFT with or without MCT in the Anyang area, 24 (66.7%) were confirmed to have current asthma. In conclusion, the prevalence of allergic disease in young adults of Korean military is not low, and the risk factors of wheezing include family history of allergic disease, overweight, current smoking, allergic rhinitis, and atopic dermatitis.