• Clinical and Experimental Pediatrics
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• v.57 no.6
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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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• v.3 no.1
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• pp.367-374
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• 1986

To make better clinical diagnosis, authors reviewed 9 patients of nonchromosomal multiple malformation disorders with psychomotor retardation, who were evaluated at pediatric department of Yeungnam University hospital for recent 2 years. We could make clinical diagnosis in 5 patients out of 9 as Aarskog syndrome, Beckwith-Wiedemann syndrome, Hallermann-Streiff syndrome, Rubinstein Taybi syndrome and Weaver syndrome. But even in diagnosed cases, there were many discrepant findings in comparison with typical cases of reference literatures and family history was positive in only one case. Moreover we could not make diagnosis in 4 patients. Therefore we think it is necessary to make a survey of unique pattern, incidence, distribution and etiologic factors of malformation disorders in our country by geneticist and pediatrician as well as to improve the laboratory aids for better diagnosis and genetic counceling.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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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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• v.11 no.2
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• pp.338-351
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• 1994

This study was to find out whether there were differences in the levels of depressions between positive and negative schizophrenics. This research was derived from the fact that negative schizophrenics show higher levels of depression than positive schizophrenics. This study also examined the levels of psychomotor dysfunction in positive and negative schizophrenics. For this study, there were 453 subjects. They consisted of 119 positive schizophrenics, 122 negative schizophrenics and 212 normal people. They were asked to complete Zung's Self-Rating Depression Scale(SDS) and to perform one subtest, Digit Symbol of KWIS(Korean Wechsler Intelligence Scale). Subjects' levels of depression were measured by the SDS. the level of psychomotor dysfunction was measured by Digit Symbol subtest of Korean Wechsler Intelligence Scale. ANOV A and Duncan's multiple comparison analysis were used to examine whether there were differences of depression and psychomotor dysfunction among the normal people, positive and negative schizophrenics. The results were as follows: It was found that the depression level was higher in the negative schizophrenic patients than positive schizophrenic patients. Levels of depression were significantly higher in negative schizophrenics than positive schizophrenics. Psychomotor retardation symptom was the most effective variable that discriminates between the normals and the schizophrenics. And it would be concluded that the psychomotor dysfunction was more severe in negative schizophrenics than positive schizophrenics.

• Journal of Yeungnam Medical Science
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• v.7 no.2
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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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• v.61 no.4
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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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• v.55 no.3
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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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• v.5 no.1
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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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• v.46 no.4
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• pp.397-399
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• 2003

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

• Korean Journal of Biological Psychiatry
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• v.17 no.3
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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.