• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of Yeungnam Medical Science
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• 제3권1호
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• pp.367-374
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• 1986

저자들은 1985년부터 1986년까지 만 2년간 본원 소아과에서 경험한 정신운동발달의 지연을 동반한 염색체질환외 다발성기형아 9예를 중심으로 이 질환에서의 진단상 문제점과 그 개선책에 대해 토의, 정리하였다.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.118-126
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• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.

• Journal of Yeungnam Medical Science
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• 제11권2호
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• pp.338-351
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• 1994

본 연구는 1992년 2월부터 1994년 8월까지 영남대학교 의과대학 부속병원 정신과 및 국립 부곡 정신병원 정신과에 외래 및 입원한 양성 정신분열증 환자 119명, 음성 정신분열증 환자 122명인 241명 (53.2%)과 정상인 집단 212명 (46.8%)으로 총 453명을 대상으로 하였다. 이들을 대상으로 하여 Zung의 자기-평가 우울척도(Self-Rating Depression Scale: SDS)와 한국판 Wechsler 지능검사(Korean Wechsler Intelligence Scale : KWIS)의 동작성 검사 중에서 바꿔쓰기 검사의 척도를 중심으로 하여 측정한 양성 및 음성 정신분열증 환자의 우울을 연구한 결과는 다음과 같다. 음성 정신분열증 집단에서 우울(p<0.001), 성욕 감퇴(p <0.01), 빈맥 (p<0.01), 피로(p <0.05), 정선운동 지체(p <0.001), 정신운동 초조(p<0.001), 절망감 (p<0.01), 과민성 (p<0.01), 우유부단(p<0.001), 자기비하(p<0.01), 공허갑(p <0.001), 자살사고의 반추 (p<0.001) 그리고 불만(p<0.001) 등은 양성 정선분열증보다 유의미하게 높이 평가된 항목이었다. 정상인 집단과 양성 및 음성 정신분열증 집단에 서 우울성향은 정상인 집단보다 정신분열증 집단에서 높은 것으로 나타났으며, 또한 음성 정신분열증집단이 양성 정신분열증집단보다 더 높은 것으로 나타났다. 이러한 결과로 음성 정신분열증 집단 의 우울수준이 양성 정신분열증 집단보다 더 높은 것으로 나타났다. 정신분열증 집단은 정상인 집단에 비해 현저한 정신운동 기능장애를 보였고, 음성 정신분열증 환 자 집단은 양성 정신분열증 환자 집단보다 정신운동 기능장애에서 그 정도가 더 심한 것으로 나타났다. 따라서 정신분열증 환자 집단이 정상인 집단보다 우울수준이 더 높고, 음성 정신분열증 환자 집단은 양성 정신분열증 환자 집단보다 우울수준이 더 높으며, 정신운동 기능장애에서도 그 정도가 더 심하다는 것으로 사료된다.

• Journal of Yeungnam Medical Science
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• 제7권2호
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• pp.79-87
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• 1990

Using Zung's self-rating depression scale, the authors studied depression in 310 elderlies residing in the 9 home for the aged (HFA) in Kyungbuk area, and 234 elderlies living in Taegu city and 107 elderlies attending a Life-long education program in Taegu, which serve as a control group, Community resident elderlies(CRE). The research had been administered during the period from June to August, 1986. The results were as follows : 1. The mean scores of male. female. and the total of the elderlies in HFA were $38.95{\pm}11.55$, $44.18{\pm}14.15$:: and $42.8{\pm}13.7$ respectively while CRE marked $40.8{\pm}11.3$ for male, $45.2{\pm}12.0$ for female, and $43.4{\pm}11.9$ for the total. Therefore there were significant differences between male and female in both groups(p<0.01, p<0.001), though no significant difference between the two groups. However, the depression score of elderlies in HFA might be much higher than that of CRE if 81 elderlies(14.2%) in HFA who had been left out of the statistical evaluation due to their having severe depression, organic brain syndrom, or pseudoementia, etc had been included. 2. The score distribution by items for the elderlies in HFA were from highest scores hopelessness, worthlessness, emptiness, decreased appetite, confusion, while for CRE, hopelessness, decreased appetite, psychomotor retardation, indecisiveness, and worthlessness. Elderlies in HFA showed significantly high scores in depressed mood, weight loss, suicidal rumination(ideation) and psychomotor excitement, while CRE showed significantly high scores in decreased appetite, psychomotor retardation, indecisiveness, and dissatisfaction. 3. Elderlies who scored over 50 numbered 10 males(16%), 57 females(34%), and total of 67(29%) in HFA and 28 males(21%), 77 females(37%), and total of 105(31%) in CRE : female showed higher seores in both groups. 4. Psychosocial factors such as getting older(respectively p<0.01, p<0.01), being Buddhist(respectively p<0.01, p<0.01), and monthly pocket money less than \30,000(respectively p<0.001, p<0.001) were found to have a noticable impact on the depression level of the elderlies in both groups. Factors such as illiteracy (p<0.001, monthly pocket money less than \10,000(p<0.05), and having no family(p<0.01) recorded significantly higher scores among CRE than the elderlies in HFA.

• Clinical and Experimental Pediatrics
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• 제61권4호
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• pp.101-107
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• 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

• Clinical and Experimental Pediatrics
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• 제55권3호
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Clinical and Experimental Pediatrics
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• 제46권4호
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• pp.397-399
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• 2003

저자들은 특이한 얼굴, 근 긴장도 증가, 정신 지체와 혈액학적으로 일시적인 적혈구 이형성증(dyserythropoiesis)의 소견을 동반한 MDS 의증의 소견과 혈소판 감소증, 호산구 증가증을 동반하는 부분 21-monosomy 증후군 1례를 신생아기부터 8세까지 추적 관찰하고 보고한다. 이와 같은 예는 우리나라에서 보고되는 첫 증례라고 사료되어 간단한 문헌 고찰과 함께 보고하는 바이다.

• 생물정신의학
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• 제17권3호
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• pp.145-152
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• 2010

Objectives : Clinical differences between elderly patients with early and late onset depression have been described although these have been inconsistent. We aimed to compare differences of clinical symptoms using the 17 items Hamilton Rating Scale for Depression(HAM-D-17) between two groups. Methods : Data of 175 elderly patients with a diagnosis of major depressive disorder according to DSM-IV from January 2005 to November 2009 were collected. Seventy five patients were early onset depression and one hundred patients were late onset depression. Depressive symptoms were assessed by the 17-item Hamilton Rating Scale for depression. Results : There were some differences in HAM-D-17 scores between early and late onset depression. Early onset depression patients scored significantly higher in retardation(t = 2.41, p = 0.017) and somatic symptoms( general)(t = 2.37, p = 0.019) than late onset depression patients. Conclusion : We concluded that early onset depression patients have more severe psychomotor retardation and general somatic symptoms than late onset depression patients in Korea. Because of some limitations of this study, further investigations will be needed to validate this study results.