• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.35-38
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• 2022

Background: Prader-Willi syndrome (PWS) is a complex genetic disease associated with growth impairment, severe obesity and metabolic dysfunctions. High proportion of PWS patients are born small for gestational age (SGA) than normal children, which also increase the risk of growth impairment and metabolic dysfunction in PWS. We aimed to compare growth outcome and metabolic profiles between SGA and appropriate for gestational age (AGA) PWS patients. Methods: Data of 55 PWS children and adults aged more than 2 years old (32 male and 23 female, age 2-18.8 years) from single center were studied. Only patients who were treated with GH were included. The clinical characteristics and laboratory findings were reviewed retrospectively. Results: Among 55 subjects, 39 had 15q11-13 deletion and 16 had uniparental disomy (UPD). Twenty (36.3%) were born SGA. All patients received GH treatment, and 11 (20%) discontinued GH treatment. Mean age at GH treatment initiation was 2.5 (range 0.3-12.4) years, and mean duration of treatment was 6.3 (range 1.0-11.3) years. Current height-SDS (-0.36 vs -0.16) and BMI-SDS (1.44 vs 1.33) did not differ between AGA and SGA group. Two patients in SGA group, but none in AGA group had diabetes mellitus. Mean glucose level was also higher in SGA group (100.1 vs 114.4 mg/dL). Conclusion: Our report gives an overview of growth profile and metabolic dysfunctions recorded in GH treated PWS patients. Growth profile did not differ between AGA and SGA group. Glucose level was higher in SGA group, so more careful monitoring and prevention for DM will be required in SGA group.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.120-125
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• 2013

Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

• Childhood Kidney Diseases
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• v.19 no.1
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• pp.48-52
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• 2015

Streptococcus pneumoniae associated hemolytic uremic syndrome (SpHUS) is one of the causes of atypical hemolytic uremic syndrome, and increasingly reported. They are more severe and leave more long-term sequelae than more prevalent, typical hemolytic uremic syndrome. But it is not so easy to diagnose SpHUS for several reasons (below), and there was no diagnostic criteria of consensus. A 18 month-old-girl with sudden onset of oliguria and generalized edema was admitted through the emergency room. She had pneumonia with pleural effusion and laboratory findings of HUS, DIC, and positive direct Coombs' test. As DIC or SpHUS was suspected, we started to treat her with broad spectrum antibiotics, transfusion of washed RBC and replacement of antithrombin III. On the $3^{rd}$ day, due to severe hyperkalemia and metabolic acidosis, continuous renal replacement therapy (CRRT) was started. She showed gradual improvement in 4 days on CRRT and discharged in 16 days of hospital care. At the follow up to one year, she has maintained normal renal function without proteinuria and hypertension. We report this case with review of articles including recently suggested diagnostic criteria of SpHUS.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Korean Journal of Exercise Nutrition
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• v.25 no.4
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• pp.1-9
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• 2021

[Purpose] This study analyzed data from the 7^th Korean National Health and Nutrition Examination Survey (2016-2018) to compare the differences in energy intake and physical activity (PA) levels in middle-aged Korean men aged 40-59 years according to household type and the presence of metabolic syndrome (MetS). [Methods] Data from 2,266 young adults (aged >39 years and <60 years) were obtained from the KNHANES. We analyzed the differences in energy intake and PA levels according to household type and MetS. The presence or absence of MetS was determined by measuring waist circumference, blood pressure, fasting blood glucose, triglyceride, and HDL-C levels. [Results] Regarding total nutritional intake, no relationship with MetS was observed regardless of household type (interaction between MetS and household type: p = 0.875). No differences in total PA were observed between multiple- and single-person households (interaction between MetS and household type: p = 0.122). The relationship between MetS and MetS components according to nutritional intake showed that participants with a higher energy intake had a 27% lower prevalence of low high-density lipoprotein cholesterol (HDL-C) (p < 0.05) and a 36% higher prevalence of high blood pressure (p < 0.01). The relationship between MetS and MetS components according to the PA level showed significantly reduced prevalence of MetS by approximately 39%, 35%, and 43% (p < 0.01, 0.01, and 0.001) in subjects who were somewhat active, active, and very active, respectively, compared to inactivity. [Conclusion] Middle-aged men showed no difference in nutritional intake and PA between multiple- and single-person households. However, the risk of MetS was significantly higher in participants with approximately 1.5 times the energy intake compared to the group with the lowest energy intake. Moreover, higher levels of PA had a marked positive effect on the risk factors and prevalence of MetS. Therefore, we suggest that reducing the total energy intake and increasing total PA are important for preventing MetS in middle-aged men regardless of household type.

• Diabetes and Metabolism Journal
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• v.42 no.6
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• pp.529-537
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• 2018

Background: Serum albumin and uric acid have been positively linked to metabolic syndrome (MetS). However, the association of MetS incidence with the combination of uric acid and albumin levels has not been investigated. We explored the association of albumin and uric acid with the risk of incident MetS in populations divided according to the levels of these two parameters. Methods: In this retrospective longitudinal study, 11,613 non-MetS participants were enrolled among 24,185 individuals who had undergone at least four annual check-ups between 2006 and 2012. The risk of incident MetS was analyzed according to four groups categorized by the sex-specific medians of serum albumin and uric acid. Results: During 55,407 person-years of follow-up, 2,439 cases of MetS developed. The risk of incident MetS increased as the uric acid category advanced in individuals with lower or higher serum albumin categories with hazard ratios (HRs) of 1.386 (95% confidence interval [CI], 1.236 to 1.554) or 1.314 (95% CI, 1.167 to 1.480). However, the incidence of MetS increased with higher albumin levels only in participants in the lower uric acid category with a HR of 1.143 (95% CI, 1.010 to 1.294). Conclusion: Higher levels of albumin were associated with an increased risk of incident MetS only in individuals with lower uric acid whereas higher levels of uric acid were positively linked to risk of incident MetS regardless of albumin level.

• Korean Journal of Psychosomatic Medicine
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• v.24 no.2
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• pp.217-226
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• 2016

Objectives : To investigate changes in, and predictors of, metabolic syndrome(MetS) status over a 5-year period in chronic schizophrenic patients and to identify factors associated with the prevention of or recovery from MetS. Methods : In total, 107 patients, all of whom provided written informed consent, were followed from 2011 to 2016 at Naju National Hospital for this study. MetS was defined according to the revised National Cholesterol Education Program-Adult Treatment Panel III guidelines. Results : During follow-up period, 22(20.5%) patients were newly diagnosed to MetS, 14(13.1%) were disappeared, 77(66.4%) were not changed[MetS : 34(31.8%), No MetS 37(34.6%)]. Common significant factors in the two changed groups were triglyceride and waist circumference, not dose and type of antipsychotic medication. Multiple logistic regression analysis revealed that female gender(odds ratio[OR]=2.846, 95% confidence interval[CI] : 1.020-7.942), attending two or more outpatient visits per month(OR=3.155, 95% CI : 1.188-8.379) and taking antidepressant medication(OR=3.991, 95% CI : 1.048-15.205) were significantly associated with MetS after controlling for other confounding variables. Type and dose of antipsychotic medication were not significantly associated with MetS. Conclusions : Triglyceride and waist circumference were important manageable indicator of MetS. Adoption of a healthy lifestyle is more important than adjusting the dose or type of antipsychotic medication in the treatment of chronic schizophrenia patients with MetS.

• The Journal of the Society of Stroke on Korean Medicine
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• v.9 no.1
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• pp.25-32
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• 2008

Objectives : Metabolic syndrome (MetS) is associated with increasing risk of cardiovascular morbidity and mortality but the risk of stroke associated with the MetS is less well established. The objective of this study was to evaluate the prevalence of MetS in stroke patients. Methods : We analyzed the data of 806 patients with acute ischemic stroke from Hanbang Stroke Registry supported by the Ministry of Science and Technology of Korea. Subjects' enrollment was done in the oriental medical hospitals of 4 universities located in the metropolitan region from April 2007 to August 2008. We analyzed all registered data and evaluated the prevalence of MetS and specific components of MetS. Results : The prevalence of MetS in stroke patients according to American Heart Association/National Heart Lung and Blood Institute (AHA/NHLBI) criteria was 59.6%. The prevalence according to the International Diabetes Federation (IDF) criteria was 41.6%. The prevalence of female patients was higher than that of male patients (71.8% vs 51% by AHA/NHLBI criteria; 61.7% vs 27.7% by IDF criteria). The prevalence of central obesity, low HDL cholesterol and hypertension was higher in female patients. There was no significant relationship between MetS and stroke subtype. Conclusions : This work gives us the basic data on the association between MetS and risk of stroke. There should be the prospective cohort studies to evaluate MetS and the risk of stroke.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.18 no.11
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• pp.433-444
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• 2017

This study was conducted to identify relationships between lung function disorders and Metabolic Syndrome(MetS) that have common comorbidities such as Cardio Vascular Diseases(CVD). According to the hypothesis that there may be a significant relationship between them, analyses were conducted to identify the proper management point for those diseases. Overall, 53,829 data were taken from KNHANES 2008-2013. Included data were PFT(Pulmonary Function Test) done and age over 40. All the 14 confounders applied, only 8,137 cases (M:3,951, F:4,186) were left. Low pulmonary function was divided into two categories, obstructive and restrictive patterns, based on the Global Initiative for Chronic Obstructive Lung Disease(GOLD) criteria, while MetS was defined based on the revised NCEP-ATPIII criteria. The relationships between those diseases were analyzed using logistic regression analysis. In addition, for the prevalence rate, cross-tab analysis were conducted. There were no significant relationships observed between obstructive lung disease and MetS, but a restrictive pattern had a meaningful relationship with MetS. Specifically, MetS showed a higher prevalence rate for both obstructive and restrictive pattern patients than the control group. Restrictive pattern patients showed a higher prevalence rate to MetS than obstructive patients. Overall, restrictive lung patterns showed a meaningful association with MetS, but not with obstructive patterns. Additionally, the prevalence rate of MetS among restrictive patients was higher than among obstructive patients.