• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.11
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• pp.4647-4652
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• 2015

Background: Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. Materials and Methods: We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ${\leq}50years$) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. Results: Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ${\leq}50years$ at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic-cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). Conclusions: Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families.

• Clinical and Experimental Pediatrics
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• v.54 no.1
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• pp.22-28
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• 2011

Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD), and the relationship between certain types of electroencephalography (EEG) abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS). Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259), age of epilepsy diagnosis (P=0.237), associated family history (P=0.074), and positive abnormal magnetic resonance image (MRI) findings (P=0.084). The severe EEG group tended to have more neuropsychological problems (P=0.074). The severe group statistically showed more electrographic seizures in EEG (P=0.000). Rett syndrome was correlated with more severe EEG abnormalities (P=0.002). Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent's questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.

• The korean journal of orthodontics
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• v.15 no.2
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• pp.197-209
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• 1985

To investigate the relationship between the pubertal spurt in body height and bone maturity of the hand-and-wrist in normal occlusion, the author X-rayed the hand-and-wrists of 1,141 students (male 614, female 527) and assessed their bone maturity. In this study, eleven skeletal stages were selected. The bones used to determine skeletal maturity were the ulnar sesamoid of the metacarpophalangeal joint of the first finger, the epiphyses of the proximal, middle, distal phalanges of the third finger, and middle phalanx of the fifth finger, and distal epiphysis of the radius. From the longitudinal data for height, an assessment was made of the change in growth velocity. The pubertal growth stage was divided into onset and peak height velocity phases. The results were as follows; 1. The onset of the pubertal growth was between the $PP_3=\;and\;MP_3=$ stage for boys, and between the $MP_3=\;and\;MP_5=$ stage for girls; the mean age of onset was 10.6 years for boys and 9.0 years for girls. 2. The peak height velocity was between the S and $MP_{3_{cap}}$ stage for boys, and between the $MP_{3_{cap}}$ and $MP_{5_{cap}}$ stage for girls; the mom age of peak height velocity was 12.5 years for boys and 10.9 years for girls. 3. As the stages of bone maturity progressed from $DP_{3u},\;to\;PP_{3u},\;MP_{3u}$, Ru, the peak height velocity had been reached, and the growth rate retarded, therefore the approach to full physical maturity was attained. 4. The evidence for the period of onset, peak height velocity and bone maturation suggested that girls were in advance of boys. During the latter part of pubertal growth, the rate of boys' bone maturation was faster than that of girls'.

• The Journal of Korean Physical Therapy
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• v.15 no.4
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• pp.488-497
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• 2003

The purpose of this study was to compare the muscle onset time of sternocleidomastoid (SCM) and rectus abdominalis (RA) muscle activity during head lift in supine position between cerebral palsy and healthy children. Ten cerebral palsy children and 10 age, sex-matched healthy children were recruited for this study. Muscle activity of the SCM and RA were collected by surface electromyography (MP100SWS). Results demonstrated that the muscle onset time order was not significantly different between cerebral palsy children and healthy children. However, the DMHT and ST between SCM and RA during head lift in supine position were significantly shorter in healthy children than in cerebral palsy children. Further studies are needed to clarify the mechanism of differences in muscle activation patterns during head lift in supine position in cerebral palsy children compared with healthy children.

• The Journal of Pediatrics of Korean Medicine
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• v.27 no.3
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• pp.65-73
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• 2013

The subjects were composed of 308 children who visited the department of pediatrics, ${\bigcirc}{\bigcirc}$ korean medicine hospital from January 2010 to May 2013. Results 1. Among 308 patients, there were 188 boys and 120 girls; their ratio was 1.57:1. The age distribution showed that 38.3% were in the age less than 1 years, 38.0% in 1 years, 7.8% in 2 years, 5.2% in 3 years, 3.3% in 4~5 years, 4.5% in 6~10 years, 2.9% in 19~21 years. 2. It was found that 36.7% of the sleep disorder was caused without motivation, 17.2% caused by negligent accidents, 13.9% by traffic accidents, 10.4% by the unfamiliar environment, 8.1% by separation from parents, 7.5% after suffering disease, and 6.2% by irritating sound. 3. The sleep onset insomnia accounts for 17.2% of sleep disorder, sleep maintenance insomnia for 67.5%, poor sleep quality 24.4%, and daytime sleep disorder takes 19.8%. The ratio of sleep onset insomnia in adolescence comprises larger proportion (44.4%) than it of any other age groups. 4. The symptoms complicated with sleep disorder are the respiratory infection which takes 25.3%, being easily startled 18.2%, anorexia 14.6%, soft stools frequency 13.0%, greenish stools 10.7%, and skin rash 10.7%. Conclusions The causes of sleep disorders, changes of sleeping patterns, and complicated diseases show diversity in children and adolescence. Further study of sleep disorders in children and adolescence should be progressed as well.

• The Journal of Korean Physical Therapy
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• v.20 no.4
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• pp.21-28
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• 2008

Purpose: We measured the Oswestry Low Back Pain Disability Index (OLBPDI) and related factors in patients with low back pain. Methods: The sample consisted of 50 patients who received physical therapy at the physical therapy units of the Andong Seoul Sintong Clinic, St. Luke Clinic, and Yeongju Seoul Sintong Clinic in Andong and Yeongju city from October, 2007, to February, 2008. The OLBPDI questionnaire was administered by 5 physical therapists as a cross-sectional study. Student's t-test and analysis of variance (ANOVA/Tukey and Scheffe) were used to analyze OLBPDI score differences. We also used nonparametric statistic analysis (Wilcoxon rank sum test, Median test). Pearson correlation analysis (Spearman correlation analysis) was used to analyze the relationship between OLBPDI and the visual analogue scale (VAS). Multiple regression analysis was performed to determine the effects of independent variables on pain scores as defined by the OLBPDI. Results: The average patient age was 37.1 years (range: 18$\sim$78 years old), and time from onset was 21.7 months (1$\sim$180). OLBPD and VAS scores were 12.70 (3.0$\sim$28.0) and 5.14 (1$\sim$8), respectively. OLBPDI scores were 14.4 in patients taking medicine and 11.57 in those who did not. There was a statistically significant relationship between OLBPDI and VAS (r=0.54, p=0.0001; r=0.55, p=0.0001 by Spearman coefficient). Gender ($\beta$=6.14, p=0.0124), age ($\beta$=-2.01, p=0.0324), weight ($\beta$=0.31, p=0.0222), time from onset ($\beta$=1.54, p=0.0044), and VAS score ($\beta$=1.59, p=0.0004) were significantly associated with OLBPD by multiple regression analysis. Conclusion: Variables associated with OLBPD were gender, age, weight, time from onset, and VAS score. Collecting information on the pain index using OLBPDI was acceptable to patients with low back pain. Further research should explore the pain index by using larger sample sizes and longer follow-up periods.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.4
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• pp.1455-1461
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• 2015

Background: Young onset breast cancer (BC) has a worse outcome as compared to in the elderly. However, some studies have shown that BC in the elderly, despite indolent features, does also cause increase in mortality. In an attempt to compare clinic-pathological characteristics, BC subtypes and survival in patients with BC presenting at extremes of age, we performed a retrospective study. Materials and Methods: Patients were either ${\leq}40$ or ${\geq}70$ years old. Subtypes were defined using immunohistochemistry and histological grade. Chi-Square test was used for evaluation of categorical variables, and Kaplan-meier and log-rank for disease-specific survival (DSS) and disease free survival (DFS). Results: We analyzed 256 patients ${\leq}40$ and 366 patients ${\geq}70$. Younger patients presented with more aggressive disease, with less luminal A but more luminal B and triple negative (TN) subtype. With a median follow-up of 57.5 months, DFS at 5 years in younger patients was 72.3% vs 84.6% in the elderly (p=0.007). Luminal A and B disease presented with worse DFS in younger patients. The opposite was seen in the TN subgroup. Although we found no significant differences in DSS, older patients with TN tumors died of BC more frequently. This group also received less chemotherapy. Conclusions: Young patients present with more aggressive disease, this translating into worse DFS. However, elderly patients with TN disease represent a particular subpopulation with worse DFS and DSS, suggesting that chemotherapy should not be withheld only because of age.

• Annals of Clinical Neurophysiology
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• v.16 no.1
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• pp.8-14
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• 2014

Background: Early detection of neuropathy may prevent further progression of this complication in the diabetic patients. The purpose of this study was to evaluate the prevalence of early neuropathic complication in patients with newly diagnosed type 1 and type 2 diabetes. Methods: Nerve conduction studies (median, ulnar, posterior tibial, peroneal, and sural nerves) were performed for 49 type 1 (27 males, mean $14.1{\pm}7.5$ years) and 40 type 2 (27 males, $42.0{\pm}14.1$ years) diabetic patients at onset of diabetes. Children with age at onset under 4 years and adults over 55 years were excluded to eliminate the aging effect and the influence of obstructive arteriosclerosis. Neuropathy was defined as abnormal nerve conduction findings in two or more nerves including the sural nerve. Results: Mean HbA1c level was $12.6{\pm}3.3%$ for type 1 and $10.5{\pm}2.9%$ for type 2 diabetes. The prevalence of neuropathy was 12.2% for type 1, and 35.0% for type 2 diabetes, respectively. There were significant trends in the prevalence of neuropathy with increasing age (p<0.05). The effect of the mean level of glycosylated hemoglobin on the prevalence of polyneuropathy at onset of diabetes was borderline (p=0.0532). Neither sex of the patients nor the type of diabetes affected the neurophysiologic abnormalities at the diagnosis. Conclusions: Even in a population with diabetes at the diagnosis, the prevalence of subclinical neuropathy was not low. Neuropathy has been significantly associated with increasing age indicating the possibility of longer duration of undetected diabetes among them, especially in type 2 diabetes.

• Korean Journal of Biological Psychiatry
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• v.24 no.3
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• pp.142-148
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• 2017

Objectives The ratio of second to fourth digit length (2D : 4D) could be a potential epigenetic marker of sexual dimorphism reflecting prenatal testosterone exposure. Testosterone is known to affect the development of the brain through an epigenetic mechanism. The purpose of this study was to investigate the effects of exposure to fetal testosterone on the metabolic syndrome based on 2D : 4D of schizophrenia patients and the relationship with the age of onset of schizophrenia. Methods A total of 214 schizophrenia patients participated in this study. The participant's physical and blood tests were performed according to the American National Cholesterol Education Program's Third Amendment of the Metabolic Syndrome Diagnostic Criteria, and the 2D : 4D was measured by the method designed by McFadden. Data were statistically analyzed by t-test, Pearson's correlation analysis and multiple regression model analysis. Results 2D : 4D was significantly higher in female than male in both hands, and there was a statistically significant negative correlation between 2D : 4D and the age of onset of schizophrenia in male. However, 2D : 4D did not show statistically significant correlation with metabolic factors. Conclusions Fetal testosterone suggests the possibility of affecting the age of onset of schizophrenia through the epigenetic mechanism, but there is no clear relationship with metabolic factors.