• Journal of Genetic Medicine
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• v.15 no.2
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.12 no.1
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• pp.22-27
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• 2001

Backgrounds and Objectives : There have been reported many studies which evaluate the effectiveness of combined laryngomicrosurgery(LMS) and voice therapy for the patients with benign vocal cord lesions. But the difference of voice improvement by onset time of voice therapy has not been reported. The purpose of this study is to analyze the differences of voice improvement by voice analysis test between the two groups with different onset time of voice therapy. Materials and Methods : Two groups, each of which comprises 15 patients, were analyzed. For the one group, the voice therapy was initiated 1 day after LMS. For the other, the therapy was initiated 1 week after LMS. Voice analytic parameters of the two groups were statistically analized to identify difference in voice improvement. Results : All measured parameters improved after voice therapy in two groups and showed no significant difference between two groups. Conclusions : The onset time of voice therapy after LMS has no significant impact on post-operative voice quality in the patients with benign vocal cord lesions. Early onset of post-operative voice therapy may serve as treatment modality for patients with benign vocal cord lesions.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7955-7958
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• 2014

Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using $chi^2$-test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer, while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.

• Journal of Korean Neurosurgical Society
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• v.62 no.5
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• pp.577-585
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• 2019

Objective : Comparing the effects of magnetically controlled growing rod (MCGR) and traditional growing rod (TGR) techniques on the sagittal plane in the treatment of early-onset scoliosis (EOS). Methods : Twelve patients were operated using dual MCGR technique in one center, while 15 patients were operated using dual TGR technique for EOS in another center. Patients' demographic characteristics, complications and radiological measurements such as cobb angle, thoracic kyphosis, lumbar lordosis, T1-S1 range (mm), proximal junctional angle, distal junctional angle, sagittal balance, coronal balance, pelvic incidence, sacral slope and pelvic tilt were assessed and compared in preoperative, postoperative and last follow-up period. Results : Age and sex distributions were similar in both groups. The mean number of lengthening in the MCGR group was 12 (8-15) and 4.8 (3-7) in the TGR group. Two techniques were shown to be effective in controlling the curvature and in the increase of T1-S1 distance. In TGR group, four patients had rod fractures, six patients had screw pull-out and four patients had an infection, whereas three patients had screw pull-out and one patient had infection complications in the MCGR group. Conclusion : There was no significant difference between the two groups in terms of cobb angle, coronal and sagittal balance and sagittal pelvic parameters. MCGR can cause hypokyphosis and proximal junctional kyphosis in a minimum 2-year follow-up period. The implant-related complications were less in the MCGR group. However, larger case groups and longer follow-up periods are required for the better understanding of the superiority of one method on other in terms of complications.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.436-439
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• 2015

The majority of clinical studies on moyamoya disease (MMD) have focused on anterior circulation. The disease involvement of posterior circulation in MMD, mainly in the posterior cerebral artery (PCA), has been mentioned since the early 1980s, and it has been repeatedly emphasized as one of the most important factors related to poor prognosis in MMD. However, its clinical features and outcome have only been elucidated during the last few years. In this review, the angiographic definition of PCA stenosis is summarized. The clinical features are elucidated as being either early-onset or delayed-onset, according to the time of PCA stenosis diagnosis in reference to the anterior circulation revascularization surgeries. The surgical strategy and hypothesis on the mechanism of PCA stenosis is also briefly mentioned. It appears that some MMD patients may show PCA stenosis during the early or late course of the disease and that the presenting symptoms may vary. Because the hemodynamic compromise caused by PCA stenosis may respond well to surgical treatment, clinicians should be aware of the condition, especially during follow-up of MMD patients.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.197-203
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• 2003

The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.

• Journal of Yeungnam Medical Science
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• v.5 no.2
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• pp.161-169
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• 1988

Neonatal sepsis is a frequent and important cause of morbidity and mortality in the neonatal period. This study was undertaken to observe the 55 cases of proven neonatal sepsis among 6,717 newborn infants under 4 weeks of age, admitted to the nursery of Yeungnam University Hospital from May 1, 1983 to April 30, 1988. We observed following results : 1. The morbidity rate of male(1.12%) was higher than that of female(0.44%) significantly (p<0.05). 2. The morbidity rate of prematurity(2.65%) was higher than that of full term(0.76%) significantly (p<0.05). 3. The incidence of perinatal obstetric complications in early onset neonatal sepsis was higher than that of late onset neonatal sepsis (38.5% vs 10.3%, p<0.05). 4. The common clinical manifestations were poor feeding(52.7%), jaundice(45.5%), diarrhea(30.9%) and irritability (30.9%). 5. Among the causative organisms, gram positive organisms were predominated and Staphylococcus epidermidis was the most common organism. There was no difference in the causative organisms between early onset and late onset sepsis.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.2
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• pp.132-140
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• 2017

Objectives: Very early-onset schizophrenia (VEOS) is a type of psychosis having a low frequency, insidious onset, and devastating clinical outcome. In this study, the demographic features, information on medication, clinical outcomes, and intellectual capability of patients diagnosed with VEOS in a hospital were analyzed to provide therapeutic strategies for this type of schizophrenia. Methods: Using the electronic medical records of the National Center for Mental Health, 69 patients with VEOS were identified based on the DSM-5 criteria of schizophrenia. The data were summarized and analyzed according to the demographic characteristics, medications used, intellectual strength measured by the full intelligence quotient (FIQ) score, and current clinical status measured by the Clinical Global Impression-Severity (CGI-S) and various combinations of these parameters. Results: The screened study group contained similar numbers of males and females. The younger the onset of psychosis, the lower the frequency. The study population included a significantly higher proportion of births in the winter season than that of the general population. The 3 most frequently used antipsychotic medications were risperidone and its derivatives, clozapine and olanzapine. Valproic acid and divalproex sodium were the most commonly added drugs for outcome augmentation. 53.5% of the study population had received benzodiazepines and/or hypnotics. The average FIQ of the study population was 69.4, which is quite low compared to previous Korean studies with similar populations. There was a weak negative correlation between FIQ and CGI-S, but it was not statistically significant. The average CGI-S score was 4.2, which meant that the patients were moderately ill. Conclusion: This study demonstrated that patients with VEOS showed more frequent intellectual deficits at baseline and poorer outcomes than the control group. Risperidone, clozapine, valproic acid and their combinations were the most preferred medications for the treatment of psychosis. Benzodiazepines were quite commonly added for various reasons.

• Radiation Oncology Journal
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• v.22 no.4
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• pp.307-315
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• 2004

Purpose: The purpose of this work was to study the differences of cyclooxygenase (COX-2) expression between Korean and Caucasian patients with early-onset breast carcinoma by immunohistochemistry. The test were analyzed to find a correlation between COX-2 and other biomarkers including HER-2/neu amplification, because we previously reported that a significant difference had been found in the expression of HER-2/neu between the two races. Furthermore, we investigated prognostic significance of COX-2 in korean patients. Materials and Methods: Sixty Korean women who were diagnosed breast carcinoma at 45 years old or younger and 60 Caucasian women with breast carcinoma were selected for this study. The median age of both groups was 37 years and tumor sizes were distributed evenly between the two group. Paraffin embedded blocks of primary tumor were processed for immunohistochemical staining of COX-2. The COX-2 expression was evaluated according to the percentage of positive cells and the intensity of staining. And the results were compared with the data of the previous studies to find correlation between COX-2 and other parameters and survival data. Results: Proportion of the COX-2 expression in total patients was $27.6\%$. The percentage of tumors that stained positive for COX-2 in korean and Caucasian women with early-onset breast carcinoma were $37.9\%$ and $20.8\%$, respectively. The difference was statistically not significant(p=0.090). Expression of COX-2 was not associated with several clinicopathologic parameters including HER-2/neu overexpression, but negative estrogen receptor status was correlated with significance (p=0.046). The 5 year disease free survival rate for patients with COX-2 expression was $67.9\%$, compared to $81.9\%$ of the COX-2 negative patients and the result was statistically not significant. Conclusions : A significant difference was not found in the expression of COX-2 between the two groups of patients with early-onset breast carcinoma. And correlation between COX-2 and other parameters was not observed except estrogen receptor negativity. Large scaled further research including radiotherapy factors will be needed to identify COX-2 as a prognostic role in patients with early-onset breast carcinoma.