• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.103-108
• /
• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.1
• /
• pp.120-125
• /
• 2004

Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

• Journal of the Korea Academia-Industrial cooperation Society
• /
• v.16 no.4
• /
• pp.2609-2619
• /
• 2015

The purpose of this study was to investigate relationship among the depression, physical condition, daily living activities, and sleep state among old people at elderly care facilities. The subjects include old people aged 65 or older residing at an elderly care facility. At elderly care facilities, the depression of old people was related with the state of vision, mastication ability, quality of sleep, and sleep state. The degree of relation was high in the group with a poor vision, the one with a bad condition of teeth, the one that considered their quality of sleep to be poor, and the one with somnipathy. Their depression had negative correlations with age and positive ones with mastication ability and assessment of quality of sleep. At elderly care facilities, the depression of old people was highly connected with the state of vision, mastication ability, sleep state, and hearing ability. In short, the depression of old people at elderly care facilities is highly connected to the health state perceived individually. The findings point to the importance of close interest in individual health state and management of old people in poor vision, mastication ability in healthcare and nursing intervention.

• Childhood Kidney Diseases
• /
• v.9 no.2
• /
• pp.222-230
• /
• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• Clinical and Experimental Pediatrics
• /
• v.50 no.2
• /
• pp.157-162
• /
• 2007

Purpose : The purpose of this study was to analyze the epidemiology, causative organism, clinical manifestation and prognosis of bacterial meningitis for children after the introduction of Haemophilus influenzae type b (Hib) vaccine in Daejeon and Chungcheong area. Methods : We analyzed retrospectively 53 medical records who had been diagnosed with bacterial meningitis at 10 general or university hospitals in Daejeon and Chungcheong area. All patients aged 1 month-14 years admitted between January 2001 through December 2005. Results : During the 5-year study period, 40 of all cases were positive for bacterial growth. Of the 40 cases that were CSF culture-proven bacterial meningitis, Streptococcus peumoniae was the most common bacteria for 17 (32.1%) of all cases, followed by H. influenzae for 10 (18.9%), Neisseria meningitidis for 3 (5.7%). In this study, the most common clinical manifestation is fever, accompanied by all cases. CSF leukocyte count was more than $100/mm^3$ in 45 (84.1%) cases. CSF glucose concentration was less than 50 mg/dL in 42 (79.2%) cases and protein concentration was more than 45 mg/dL in 49 (92.5%) cases. 45 of all cases made a recovery after treatment and were discharged. Most common complication after treatment is subdural effusion (19.0%) and hearing disturbance (9.4%). Conclusion : The most common organism of culture-proven bacterial meningitis in the children beyond neonatal period was S. pneumoniae. Continued surveillance studies were demanded to know the altered incidence of bacterial meningitis, because we expect the incidence of S. pneumoniae meninigitis will be on the decrease after more active innoculation of pneumococcal protein conjugate vaccine.

• Journal of Genetic Medicine
• /
• v.8 no.2
• /
• pp.119-124
• /
• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• 한국노년학
• /
• v.40 no.4
• /
• pp.729-746
• /
• 2020

For the development and better use of information and communication technology(ICT) for promoting health and quality of life in older people, it is important to understand personal factors associated with ICT use. The aims of this study were to describe the pattern of ICT use according to health characteristics of elderly and to investigate significant factors related to ICT use among three age groups. The data of 2017 National Survey of Older Koreans was used for analysis and 10,058 of older adults aged 65 and over were included for study participants. As results, first, the young old(65~74) used more functions of ICT than the middle-old(75~84) and the old-old(85 and over). Second, ICT was more used among older people with good conditions in chronic disease, subjective health, cognition, depression, vision, hearing, walking and IADL. Third, higher prevalence of ICT use was significantly associated with age, education, household income, subjective health, depression, cognitive function, vision limitation and walking limitation. Fourth, factors influencing the use of ICT were a little different among three age groups. For the young-old(65~74), subjective health, depression, cognitive decline, walking limitation, and IADL disability were significant factors affecting on ICT use. For the middle-old(75-84), subjective health, depression, cognitive decline, vision, hearing, and walking limitation were related with their ICT use. For the old-old(85 and over), only cognitive function and depression were associated with their ICT use. Based on these results, this study suggested the need to consider multiple health conditions for developing and using ICT for older adults.

• The Journal of the Acoustical Society of Korea
• /
• v.28 no.6
• /
• pp.534-541
• /
• 2009

Word recognition test (WRT) for the children can be useful for diagnosing the degree of communication disability, prescribing hearing instruments, planning aural rehabilitation and speech therapy, and determination of site of lesions. The Korean standard monosyllabic word lists for preschoolers (KS-MWL-P) were developed considering the criteria given by the literatures. However, the authors of KS-MWL-P suggested more children should be included to verify homogeneity of the lists using psychometric function curve since only 8 children participated in the developing process. The purpose of this study was to explore the homogeneity of KS-MWL-P for supplementing the limitations of the lists employing psychometric analysis. To 23 preschoolers who have normal-hearing, 100 monosyllabic KS-MWL-P words were examined with the pictures. Psychometric function curve with linear slopes of 20% and 80%'s correct rates through accounting recognition scores of each monosyllabic word at variable intensities from -10 to 40 dBHL was obtained and analyzed. As a result, s-shaped psychometric function curve was presented with increasing correct rate depending on intensity and showed no statistical significant differences among each word and list. The congruous graph shapes among lists also indicated good homogeneity and the list 1,2,3,4's average slopes were 4.48, 3.86, 4.65, 4.50. It was verified that the homogeneity was suitable because the analysis of variance showed no statistical significance among lists (p>0.05). However, KS-MWL-P's order of slope according to the order of the number of items, $1{\sim}10$, $1{\sim}20$, $1{\sim}25$ showed no difference with the p-value of 0.93, 0.59, 0.91, 0.70 for the lists 1,2,3, and 4, respectively. Although KS-MWL-P was assumed that the lower-numbered items were easy for testing younger ages, this study's results could not agree with the author's conclusion. Considering this matter, rearranging of the number of items should be performed according to the analysis of slope suggested by this study for testing younger children with easier items. Other than this, in conclusion, KS-MWL-P was proved to be useful for clinical and rehabilitative evaluating and training tools for preschoolers.

• Journal of Preventive Medicine and Public Health
• /
• v.26 no.4 s.44
• /
• pp.628-649
• /
• 1993

This study was conducted to investigate the factors related to the poor school performance of the elementary school children. Two schools in Taegu, one in the affluent area and the other in the poor area, were selected and a total of 175 children whose school performance was within low 10 percentile (poor performers) and 97 children whose school performance were within high 5 percentile (good performers) in each class of 2nd, 4th and 6th grades were tested for the physical health, behavioral problem and family background. Each child had gone through a battery of tests including visual and hearing acuity, anthropometry (body weight, height, head circumference), intelligence (Kodae Stanford-Binet test), test anxiety (TAI-K), neurologic examination by a developmental pediatrician and heavy metal content (Pb, Cd, Zn) in hair by atomic absorption spectrophotometry. A questionnaire was administered to the mothers for prenatal and prenatal courses of the child, family environment, child's developmental history, and child's behavioral and learning problems. Another questionnaire was administered to the teachers of the children for the child's family background, arithmatic & language abilities and behavioral problem. The poor school performance had a significant correlation with male gender, high birth order, broken home, low educational and occupational levels of parents, visual problem, high test anxiety score, attention deficit hyperactivity disorder (ADHD), poor physical growth (weight, height, head circumference) and low I.Q. score. The factors that had a significant correlation with the poor school performance in multiple logistic regression analysis were child's birth order (odds ratio=2.06), male gender(odds ratio=5.91), broken home(odds ratio=9.29), test anxiety score(odds ratio=1.07), ADHD (odds ratio=9.67), I.Q. score (odds ratio=0.85) and height less than Korean standard mean-1S.D.(odds ratio=11.12). The heavy metal contents in hair did not show any significant correlation with poor school performance. However the lead and cadmium contents were high in males than in females. The lead content was negatively correlated with child's grade(P<0.05) and zinc was positively correlated with grade (P<0.05). among the factors that showed a significant correlation with the poor school performance, high birth order, short stature and ADHD may be modified by a good family planning, good feeding practice for infant and child, and early detection and treatment of ADHD. Also, teacher and parents should restrain themselves from inducing excessive test anxiety by forcing the child to study and over-expecting beyond the child's intellectual capability.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.33-43
• /
• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.