• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.70-78
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• 2016

21-hydroxylase deficiency (21-OHD), most common form of congenial adrenal hyperplasia, is categorized into classical forms, including the salt-wasting (SW) and the simple virilizing (SV) types, and nonclassical (NC) forms based on the severity of the disease. Newborn screening for 21-OHD has been performed in Korea since 2006. $17{\alpha}$-hydroxyprogesterone (17-OHP) is a marker for 21-OHD and is measured using a radioimmunoassay or a fluoroimmunoassay. Premature and low birth weight infants are likely to give false positive 17-OHP findings, therefore, cutoff values for these infants should be determined based on gestational weeks or birth weight. ACTH simulation test is helpful when the 17-OHP shows equivocal increase, and it is gold standard for diagnosis of NC type. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Molecular analysis of CYP21A2 is useful for confirming diagnosis of mild SV or NC type, predicting prognoses, and genetic counseling. In order to make newborn screening for 21-OHD more efficient, early detection of boy with SW type, early determination of girl with ambiguous genitalia, detection of NC type, and overcoming of false positive in premature and low birth weight infants should be considered. Above all, early treatment should be started when the patient is suspected as having 21- OHD clinically before confirming the diagnosis to prevent adrenal crisis. Here, author reviewed recent articles of guideline and proposed guideline for 21-OHD.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.1
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• pp.139-144
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• 2009

Laron syndrome was first described by Dr. Laron. Administration of exogenous growth hormone failed to stimulate insulin-like growth factor-I(IGF-I) production which was related to postnatal growth, because these patients lacked receptors in the liver for this hormone. The diagnosis of this syndrome is based on the typical features of GH resistance such as normal or elevated serum GH, low serum IGF-I, and impaired IGF-I response to hGH. Laron syndrome patients showed characteristically severe postnatal growth failure and markedly reduced adult height. This report describes the oral and maxillofacial manifestations of children associated with Laron syndrome. Children with Laron syndrome have several dental and skeletal irregularities. Relatively little is known of the direct effect of Laron syndrome on dental development. Further research should be needed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.6 no.1
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• pp.3-17
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• 1995

The so-called borderline children are characterised by disturbances in the sense of reality and interpersonal relationships, lack of control, fluctuation of functioning, uneven development and excessive anxiety. But the concept of borderline disorder of childhood is very difficult to define and diagnose in current classification system. The present study adapted the consensus symptoms in borderline children by Bemporad and Vera eight cases aged 7-11 were examined in 37 variables. Results are as follows 1) All subjects are boys and girl hardly be diagnosis n current diagnostic system and have many concurrent diagnoses. Common chief complaints in the sense of reality. 2) In KEDI-WISC test, the borderline children showed average intelligence, but performance IQ tends to be higher than verbal IQ. In Rorscharch test, they showed high thought disorder index, emotional instabilities and aggressive impulses. The results of TOVA suggested attentional deficit in half of the subjects. The organicity is not prominent. 3) Many of the borderline children were unwanted baby. Although primary care takers of all the subjects were their mothers there were moderate problems in caring attitude of their children and marital relationship with their husband. Sccioeconomic status was generally below middle class. Most of all subjects have delayed language development, but have overcome subsequently. Many subjects were rejected by peers because of their aggression. 4) The first visit of the subjects was about 6 years of age. Average duration of treatment was 2 years. All of them were treated in the outpatient basis except one. The effect of pharmacotherapy was doubtful and the necessity of long term play therapy was suggested. Although there were many limitations of method in present study, it was suggested that further research is needed for diagnostic criteria, epidemiology and treatment.

• Journal of Veterinary Clinics
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• v.31 no.4
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• pp.303-306
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• 2014

Three Yorkshire Terriers (12-year-old, 13-year-old, and 15-year-old castrated males) with respiratory distress, coughing and anorexia were the subjects of this report. In laboratory examinations, there were no remarkable findings. However, the thoracic radiographic findings included a large mass of soft tissue density in the cardiac base region, tracheal elevation, and aortic bulging in all three Yorkshire Terriers. There were no remarkable findings in the abdominal radiographs. In echocardiography, a homogeneous hyperechoic mass around the aorta and bicuspid valve regurgitation were found in all three dogs. There were no remarkable findings in abdominal ultrasonography. Computed tomographic findings showed a large well -defined heterogeneous mass in the cranial vena cava, which was dominant in the left side in all three Yorkshire Terriers. The mass sizes were about $3{\times}4cm$. In post-contrast scanning, contrast enhancement was evident. These cases were diagnosed as heart-base tumor. Treatments provided to the three dogs were based on symptomatic medical management of cardiac failure and tracheal collapse. Case 1 (12-year-old) survived for 3 months, case 2 (13-year-old) for 5 months, and case 3 (15-year-old) for 32 months after the diagnosis. Our results show that the clinical findings, thoracic radiography, echocardiography, computed tomography (CT) and symptomatic medical management in dogs suspected to have heart base tumor.

• Journal of Nutrition and Health
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• v.25 no.2
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• pp.187-199
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• 1992

The purpose of the study is to assess and evaluate methods employed in nutrition surveys and to give an information on methodological considerations for future studies in Korea. Three hundred thirty six papers of nutritional surveys published from 1960 to 1990 were classified into 9 groups according to the survey subject and analyzed for methods used in survey. The frequency of publications according to the survey subject was as the following order : 'in-fants and preschool children' 'school age children' 'adolescence' 'college students' 'preg-nant and lactating women' 'housewives' 'the elderly' 'workers' and 'patients' Eighty five percents of papers applied methods of dietary assessment. of which weighing method recall method an record method were extensively used in the order. Questionnairs included items related to nutrition such as food habit nutrition knowledge etc. Anthropometric techniques were employed in 53% of papers and in general growth measurement were undertaken for children and body composition was emphasized for adults. biochemical assessment was limited to 32% of papers and assessment of anemia was the major test. Clinical studies were applied to 26% of the studies. of which only 5% employed examination of clinical signs of malnutrition Recently self-reported health status assessed using questionnaires has been adopted frequently. Further researches are required for evaluation of the methods employed in nutrition surveys in order to develop the standard model for nutrtion survey so that obtained data can become more reliable and utilized efficiently.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.133-141
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• 1993

Present study investigated the differences in psychological tests responses between chronic motor tic disorder and tourette's disorder to clarify whether chronic motor tic and tourette's disorder constitute a single disorder on a continuum or not. Based on the diagnosis by child psychiatrists 29 chronic motor tic disorder and 10 tourette's disorder children between the age of 6 to 13 were selected, and the psychological tests responses of two diagnostic groups were compared. The results showed that tourette's disorder is more related to neulological problems than chronic motor tic disorder. Also it was found that children with tourette's disorder have more difficulties in social-emotional adjustment than children with chronic motor tic disorder. These results suggested that interactions among neurological factor, emotional factor and temperamental characristics might be more involved in tourette's disorder than in chronic motor tic disorder. The limitations of present study and the need for futher research on the comorbidity of tourette's disorder and ADHD were discussed.

• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.17 no.1
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• pp.27-31
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• 2006

Objectives : We examined whether D8/17 expression in Tourette syndrome children who suggested PANDAS were higher than comparison group, and there was my clinical difference by D8/l7 expression. Methods : Nine Tourette's syndrome children suggested PANDAS and two ADHD children without tic disorder were evaluated far percentage of D8/17 expression-positive B cells by immunofluorescence flow cytometric assay and anti-streptolysin O titer. Results : The frequency of D8/17 positive B lymphocyte rate was significantly higher in Tourette's syndrome than ADHD, whose average rate were 77.9 and 24.8, respectively. Among 9 TD patients,4 patients showed above 90% D8/l7 expression. There was high concordance expression rate between mother (98.4%) and daughter (99.0%) The significant relation between percentage of D8/17 expression and tic severity were not detected. The significant relation between percentage of D8/17 expression and anti-streptolysin O titer were not detected, however in 66.7% TD patients showed above 100IU/ml. Conclusion : We concluded that subgroup of TD children are streptococcal infected tic disorder, so called PANDAS.

• Journal of the korean academy of Pediatric Dentistry
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• v.47 no.1
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• pp.93-98
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• 2020

Lesch-Nyhan syndrome is a rare X-linked, recessively inherited disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. This syndrome is characterized by 3 major features: neurological dysfunction, hyperuricemia, and cognitive and behavioral disturbances (e.g., self-mutilation, which begins at 2 to 3 years of age). Uncontrollable self-mutilation begins with biting of the perioral tissues and extends into patterns such as finger biting and head hitting. This report describes the case of a 31-month-old boy who was diagnosed with Lesch-Nyhan syndrome with severe lip injuries caused by self-mutilative behaviors. The behaviors were blocked with a semi-fixed lip bumper for a short period. The device was applied to the patient on the day of the visit without the requirement for an oral impression. It was easy to manage oral hygiene and adjust the device because it was detachable by clinicians and guardians. Therefore, a semi-fixed lip bumper may be useful as an interim appliance to block selfmutilative behaviors in children with Lesch-Nyhan syndrome.

• Journal of Life Science
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• v.30 no.8
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• pp.672-679
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• 2020

Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.