• Journal of Genetic Medicine
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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

• Korean Journal of Biological Psychiatry
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• v.28 no.2
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• pp.50-57
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• 2021

Objectives Clozapine is the most effective atypical antipsychotic agent for the treatment-resistant schizophrenia (TRS), however, only 40%-70% of TRS patients respond to clozapine. Moreover, TRS encompasses various symptom dimensions. Therefore, augmentation with other medications for clozapine is frequently applied. However, the prescription pattern of clozapine and combined medications in Korea is yet to be examined. This study aims to investigate the maintenance treatment pattern of clozapine and augmentation agents in one Korean tertiary hospital. Methods The patients with schizophrenia spectrum disorders under clozapine maintenance, defined as one-year clozapine continuation, were subjected for analysis. Medication data at one-year time-point after clozapine initiation was extracted and analyzed. Results Among total 2897 patients having clozapine prescription experience from January 2000 to December 2018, 1011 patients were on clozapine maintenance. The mean age of clozapine initiation was 30.2 ± 11.3 years, and the maintenance dose of clozapine was 217.8 ± 124.3 mg/day. Combination rate of antipsychotics, mood stabilizers, and antidepressants were 43.5%, 25.3%, 38.6%, respectively. Most frequently prescribed drugs in each category were aripiprazole, valproate, and sertraline. Olanzapine equivalent dose of combined antipsychotics was 10.4 ± 7.7 mg/day. Male patients were prescribed higher dose of combined antipsychotics and higher rate of antidepressants. Female patients had later onset of clozapine prescription. Patients with two or more combined antipsychotics were prescribed higher dose of clozapine and higher rate of antidepressants compared to patients with one combined antipsychotic. Conclusions Taken together, among the patients taking clozapine, a substantial rate of patients were under polypharmacy. The present findings based on the real-world prescription pattern could provide the valuable clinical information on the treatment of TRS-related conditions.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.964-970
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• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1983.05a
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• pp.6.4-7
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• 1983

Hoarseness is the most common and early symptom in laryngeal diseases. A clinico - statistical analysis was performed on 228 cases with chief complaint of hoarseness at the department of otolaryngology, Jeonbug National University during the past 3 years from January 1980 to December 1980. 1) The number of the patient with hoarseness were 228 cases (2.3 %) among total outpatient of 10110 cases. 2) Among the 228 cases with hoarseness, male were 115 cases and female were 113 cases, so sex ratio was nearly same. 3) The underlying diseases causing hoarseness in order of frequency were acute laryngitis 43 cases (18.9 %), chronic laryngitis 36 cases (15.8 %), vocal nodule 30 cases(13.2 %), vocal polyp 30 cases (13.2 %), vocal cord paralysis 26 cases (11.4 %), laryngeal carcinoma 18 cases (7.9 %) and laryngeal tuberculosis 15 cases (6.6 %). There were other diseases of larynx in 30 cases (13.2 %). 4) The incidence of age distribution in order of frequency were 4th decade (26.8 % ), 3rd decade (18.9%), 5th decade (17.1 %), 2nd decade (15.8 %) and 6th decade (9.6 %). 5) The duration from onset to consultation in order of frequency were 11 days-1 month (22.8 %), 1 month-3 months(19.7%), 3 months -6 months (18.9 %), within 10 days (13.6 %), 6 months-l year (13.2 % ), 1 year -3 years(7. 9 %) and 3 years over. 6) The duration from onset to consultation for underlying diseases were as follows ; acute laryngitis was within 10 days, chronic laryngitis was 3 months - 6 months, vocal nodule was 1 month-3 months, vocal polyp was 3 months -1 year, vocal cord paralysis was 11 days -1 month. 7) Associated symptoms with hoarseness in order of frequency were sore throat (25 %), sputum (8.8 %), swallowing difficulty (7.9 %) and dyspnea (6.1 %). But 84 cases (36.8 %), there were no other symptoms except hoarseness.

• Journal of Chest Surgery
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• v.42 no.6
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• pp.738-743
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• 2009

Background: There is no standardized tool and parameter that can accurately assess the sympathetic function before and after performing sympathectomy in patients with primary palmar hyperhidrosis. We examined the effective-ness of the sympathetic skin response (SSR) study for documenting the change of sympathetic denervation before and after performing selective thoracic sympathicotomy. Material and Method: We prospectively investigated the SSR from 12 healthy subjects who were diagnosed with primary hyperhidrosis. Each SSR was recorded on the right palm or sole with electrical stimuli applied to the skin at the left wrist and foot and vice versa for the controlateral side. This test was performed before, 2 weeks and 1 year after selective thoracic sympathicotomy. The data was corrected for the onset latency and the amplitude of the SSR (n=24). Result: The mean age of the 12 patients was $24.6{\pm}0.4$ years (range: 19~36) and the gender ratio was 1 : 0.7. The mean values of the preoperative, postoperative 2 weeks and postoperative 1 year onset latency and amplitude of the palmar side (n=24) were $1.46{\pm}0.24$ msec and $6,043{\pm}2,339{\mu}V$, $1.63{\pm}0.42$ msec and $823{\pm}638{\mu}V$, and $1.44{\pm}0.39$ msec and $2,412{\pm}1,546{\mu}V$, respectively. The mean values of the plantar side (n=38) were $1.83{\pm}0.42$ msec and $2,816{\pm}1,694{\mu}V$, $2.16{\pm}0.39$ msec and $1,445{\pm}1,281{\mu}V$ and $1.95{\pm}0.25$ msec and $1,622{\pm}865{\mu}V$, respectively. Among the documented parameters, only the palmar amplitude (p=0.002) showed statistical significance in recording the change of the sympathetic system within the same individual for the pre and postoperative period. Conclusion: The SSR amplitude ratio may be a useful parameter for documenting the efficacy of sympathetic denervation after selective sympathicotomy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.1-10
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• 2017

Purpose: This study aimed to investigate the perception and emotional experiences in rare and intractable diseases for caregivers of pediatric patients with mitochondrial diseases in order to provide therapeutic interventions for patients, caregivers, and families. Methods: A total of 83 caregivers of pediatric patients with mitochondrial diseases were recruited from the pediatric mitochondrial disease clinics of the Gangnam Severance Hospital in South Korea. Participants completed the survey about their perception of mitochondrial disease and emotional experiences after the diagnosis, and these clinical data were analyzed accordingly. Results: Surveys from a total of 83 caregivers of patients were analyzed, and the patients' age ranged from 6 to 12 years (33%), followed by ages 1 to 6 years (30%). Children with mitochondrial diseases were between 0 and 0.5 years of age at the time of first symptom onset (43%), and the duration of illness lasted more than 10 years in most cases (42%). Prior to diagnosis of mitochondrial diseases, the amount of awareness the caregivers had was 'Not at all' for both rare and intractable diseases and mitochondrial diseases in 44 cases and 68 cases, respectively. For the caregivers' emotional experiences, the most common initial responses were 'Discouraged/despair', 'Helpless/lethargic', and 'Disconcerted'. 'Anxious', 'Committed to treatment', and 'Responsibility as family members' were the most common emotional responses from the caregivers, followed by 'Disconcerted' and 'Helpless/lethargic'. Conclusion: It is important to consider the level of perception and emotional experiences of caregivers and patients with rare and intractable mitochondrial diseases for planning treatment programs.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.176-185
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• 2004

Purpose: Rapidly progressive glomerulonephritis (RPGN) is a clinicopathologic entity characterized by extensive crescent formation and rapid deterioration of renal function within few months. For better understanding of its clinical course and designing better treatment strategies, a clinicopathological study of childhood RPGN was performed. Methods: The clinical manifestations and pathological findings were reviewed retrospectively in 12 children who were diagnosed as having RPGN by clinical manifestations and renal biopsy during a period from 1991 to 2003. Several clinicopathological parameters were analyzed as prognostic factors. Results: Among a total of 12 patients, 4 were male and 8 were female. The median onset age was 11.5 years(range 5.5-14.6 years), and the median period of follow-up was 25 months(range 7 months-6.6 years). According to the pathological classification, 10 patients (83%) were type II RPGN(immune-complex mediated glomerulonephritis), 2 patients were type III RPGN(pauci-immune glomerulonephritis), and none was type I RPGN(anti-glomerular basement membrane nephritis). All patients were treated with oral steroid in various combinations with methylprednisolone pulse therapy(10 patients, 83%), cyclophosphamide(8 patients, 67%), or plasmapheresis(4 patients, 33%). Clinical outcomes of 12 patients were complete remission in 1(8%), end-stage renal disease in 2(17%), chronic renal insufficiency with persistent proteinuria in 2(17%), and normal renal function with persistent proteinuria in 7(58%) at the last follow-up. Poor prognosis is associated with increased serum creatinine level, severe anemia and younger age at the time of diagnosis. Conclusion: Immune-complex mediated glomerulonephritis is the major cause RPGN in children and most cases showed improvement of renal function with aggressive management. For better understanding of this rare disease, a prospective multicenter study should be done.

• Journal of Chest Surgery
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• v.40 no.5 s.274
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• pp.351-355
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• 2007

Background: Postinfarction ventricular septal rupture is associated with mortality as high as $85\sim90%$, if it is treated medically. This report documents our experience with postinfarction ventricular septal rupture that was treated surgically, Material and Method: We retrospectively reviewed the medical records of 11 patients who were operated on due to postinfarction ventricular septal rupture between August 1996 and August 2006. There were 4 men and 7 women, with a mean age of $70{\pm}11$ years (age range: $50\sim84$ years). The location of the rupture was anterior in 7 cases and posterior in 4 cases. The interval between the onset of acute myocardial infarction and the occurrence of the ventricular septal rupture was $2.0{\pm}1.3$ days (range: $1\sim5$ days). Operation was performed at an average of $2.4{\pm}2.7$ days (range: $0\sim8$ days) after the diagnosis of septal rupture. Preoperative intraaortic balloon pump therapy was performed in 10 patients. Result: The infarct exclusion technique was used in all cases. Coronary artery bypass grafting was done in 8 cases, with the mean number of distal anastomosis being $1.0{\pm}0.8$. There was one operative death. In 2 patients, reoperation was performed due to a residual septal defect. The postoperative morbidities were transient atrial fibrillation (n=7), paroxysmal supraventricular tachycardia (n=1), low cardiac output syndrome (n=3), bleeding reoperation (n=2), delayed sternal closure (n=2), acute renal failure (n=2), pneumonia (n=1), intraaortic balloon pump-related thromboembolism (n=1), and transient delirium (n=2). Nine patients have been followed up for a mean of $38{\pm}40$ months except for one follow-up loss. There have been 3 late deaths. At the latest follow-up, all 6 survivors were in a good functional class. Conclusion: We demonstrated satisfactory operative and midterm results with our strategy of preoperative intraaortic balloon pump therapy, early repair of septal rupture by infarct exclusion and combined coronary revascularization.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.3
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• pp.457-468
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• 2006

It is widely known that individuals with mental retardation (MR) and Down's syndrome (DS) often develop early onset periodontal diseases. In this study, the prevalence of periodontopathic bacteria in MR persons and DS patients was compared with normal persons. Plaque index and gingival index were measured. Five periodontopathic bacteria, Actinobacillus actinomycetemcomitans. Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Fusobacterium nucleatum were surveyed in subgingival plaque samples by the polymerase chain reaction. Results : 1. Plaque index and gingival index were higher in MR persons group and DS patients group than normal persons group (p<0.05). 2. The prevalence of periodontopathic bacteria in normal persons group were lower than that of MR persons group and DS. Significant differences were observed in the prevalence of P. gingivalis, T. denticola and A. actinomycetemcomitans(P<0.05). 3. Prevalence of P. gingivalis(5.9%) at age 8-10 was lower than other ages in normal persons group, and its prevalence increased with age Prevalence of P. gingivalis, T. denticola and A. actinomycetemcomitans at MR persons group and DS patients group were higher than those of same ages of normal persons group. 4. Plaque index was associated with T. denticola and gingival index was associated with T. denticola and A. actinomycetemcomitans(P<0.05). These results suggested that plaque index, gingival index and prevalence of periodontopathic pathogens, especially P. gingivalis, T. denticola and A actinomycetemcomitans in DS patients group and MR persons group are higher than those of normal persons group.

• Clinical and Experimental Pediatrics
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• v.52 no.5
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• pp.538-543
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• 2009

Purpose : To report the clinical experience with amitriptyline for managing children with cyclic vomiting syndrome (CVS). Methods : Totally, eleven children (eight males) were diagnosed with CVS. Of these, medical records were reviewed for eight children treated with amitriptyline; three children were not treated because one was not followed up and two were kept under observation to study the natural course without medication, because the frequency of vomiting had recently decreased to less than one episode per year. The eight amitriptyline-treated children were divided into three groups by the therapeutic response: (1) complete remission (CR), with no recurrence of symptoms after treatment; 2) partial remission (PR), in which the frequency of symptoms decreased by almost 50% after treatment; and (3) no response. Results : For the eight amitriptyline-treated children, the mean age of symptom onset was 4.7 (0.3-7) yr and mean age at diagnosis was 8.9 (6.0-11.3) yr. The mean number of vomiting episodes was 8.8 (2-25) per year, and the duration of vomiting in each episode ranged from 3 hours to 5 days. CR was achieved in five (62.5%) of the eight amitriptyline-treated children (0.2-0.8 mg/kg/day orally, at night) and PR was achieved in three children (37.5%). Two children relapsed on discontinuation of amitriptyline by their parents decision but showed improvement on remedication. No adverse effects were noted throughout the study period. Conclusion : Amitriptyline can be used in long-term prophylaxis for the management of children with CVS aged over 6 yr. However, a large-scale study is needed to ascertain its effects.