• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.3 no.1
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• pp.147-157
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• 1992

The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

• Childhood Kidney Diseases
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• v.10 no.1
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• pp.45-51
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• 2006

Hypocomplementemia is found in all types of membranoproliferative glomerulonephritis (MPGN) but not in all patients. Hypocomplementemia can be ascribed to at least two circulating complement reactive modalities. The activation of the classical pathway produced by circulating immune complexes and the presence in the blood of anticomplement autoantibodies, called 'nephritic factor'(NF). The activation of the classical pathway by circulating immune complexes is probably the major mechanism responsible for hypocomplementemia in idiopathic MPGN type I. Nephritic factors have been shown to be responsible for the hypocomplementemia in both MPGN type II and III. NFa is probably the major mechanism responsible for the hypocomplementemia of idiopathic MPGN type II. NFt appears to be solely responsible for the hypocomplementemia in MPGN type III. Judging from the complement profile, NFt also may be present in some patients with MPGN type I. Although infection by meningococcus has been associated with deficiency of any of the plasmatic proteins of complement, it more commonly involves deficiency of the terminal components of the complement pathway(C5-C9). We experienced a patient who had MPGN and meningococcal meningitis. We examined the complement level and significantly lower levels of C3, C5 were found persistently. C7 was low at first and it returned to normal range after 2 months. C9 was normal at first, and was low after 2 months. This is the first reported case in which MPGN with meningococcal meningitis occurred.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.204-210
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• 2003

Membranoproliferative glomerulonephritis type II(MPGN II), also called dense deposit disease, was first described by Berger and Galle in 1963. The diagnosis of MPGN II is based on electron-microscopic finding of an intensely electron-dense substance which replaces the lamina densa of the glomerular basement membrane. Although the etiology and pathogenesis of MPGN II are unknown, it frequently progresses to end-stage renal failure. Typically in MPGN II, hypocomplementemia due to activation of the alternative complement pathway is present. In addition, the association of MPGN II with partial lipodystrophy and complement abnormalities is well documented. The relationship between these associated features and the patient's renal functional outcome is not clear. With respect to the therapy for MPGN II, an alternate-day prednisolone regimen was shown to be effective. Various treatment modalities, including immunosuppression with corticosteroids, cytotoxic drugs and cyclosporin A, anticoagulants and antiplatelet therapies are used, either alone or in combination, with varying degrees of success. The purpose of this paper is to present a case of MPGN II from a 7 years old girl with paroxysmal supraventricular tachycardia(PSVT).

• Korean Journal of Head & Neck Oncology
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• v.13 no.1
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• pp.51-57
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• 1997

A mass appearing in the anterior or lateral side of neck often can be a diagnostic challenge. Differential diagnosis of the neck mass covers a broad spectrum of diseases and the proper evaluation and management of a neck mass requires an impressive amount of anatomic and pathologic information. Because improper diagnosis and management may convert a potentially curable malignant metastasis into incurable disease, a differential diagnosis must be considered in all patients who present with a neck mass. Authors reviewed 2,148 cases of neck mass who were diagnosed by surgical resection, biopsy or aspiration during the period between October 1982 to December 1993, excluding those with thyroid and parathyroid disease. The evaluated characteristics were age, sex, site of lesion, and pathologic diagnosis. The results were as follows: Of 2,148 cases of neck mass, the overall ratio of benign to malignant tumor was 3 : 1. In 1,603 cases of benign mass lesion, the most common disease was lymphadenitis(non-specific and tuberculosis) showing 53% incidence, the second was salivary gland tumor(13%), and the third was congenital lesion(12%). The minor problems such as lipoma and sebaceous cyst were 21 %. In the age distribution of benign lesion, tuberculous lymphadenitis showed peak incidence in second decade, non-specific lymphadenitis was main disease of childhood, salivary gland tumor was peak in fourth decade, and most of congenital lesions were diagnosed at the age below 15. In 545 malignant tumors, the most common lesion was metastatic cancer to cervical lymph nodes yielding 71 % incidence(head and neck primary 52%, infraclavicular primary 42%, unknown primary 5%), the second common disease was lymphoma(19%), and the third was salivary gland cancer(9%). In the age incidence of malignant tumor, 60% of them developed in the fifth and sixth decade, head and neck primary was more common in the fifth decade than sixth, however lymphoma showed higher incidence in sixth decade. In the analysis of mass location according to lymph node level grouping(I - V), lymphadenitis developed mostly in level V nodes, the next common occurring site was level IV in tuberculous lymphadenitis and level II in non-specific lymphadenitis. The majority of metastatic cancers were found in level IV and III, and common occurring site of lymphoma was in level II and IV. Pathologic diagnosis of neck masses were made by fine needle aspiration cytology 80 cases, incisional biopsy 533 cases, excisional surgery 1,399 cases, and neck dissection 116 cases. For the proper management of neck mass, a proper diagnostic modality should be selected from imaging techniques, cytology, biopsy or neck dissection, with the consideration of patient's age, history and clinical findings. The scapel biopsy could be used freely in the inflammatory disease or inoperable metastatic cancer, but it should be reserved in the curable metastatic cancer or clinically possible malignancy.

• Journal of the Korean Child Neurology Society
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• v.23 no.2
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• pp.45-50
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• 2015

Purpose: X-linked adrenoleukodystrophy (X-ALD) is a fatal, axonal demyelinating, neurodegenerative disease, and is caused by mutations the in ABCD1 (ATP-binding cassette transporter subfamily D member 1). Oxidative damage of proteins caused by very long chain fatty acid accumulating in X-ALD, is an early event in the neurodegenerative cascade. We evaluated valproic acid (VPA) as a possible option for oxidative damage in X-ALD. Method: We generated fibroblast of the childhood cerebral ALD from patient. We evaluated mRNA (ribonucleic acid) level of ABCD2 by real-time polymerase chain reaction, and reactive oxygen species (ROS) levels by flow cytometry. Results: VPA increased expression of ABCD2 in both control and ALD fibroblast. ABCD2 gene mRNA expression was increased 1.76 fold in normal fibroblasts, and 2.22 fold in the X-ALD fibroblasts. ROS levels were decreased in VPA treated X-ALD fibroblast, especially in treated with 1 mM of VPA. ROS levels revealed 13.7 in control fibroblast, on the other hand, 5.83 in X-ALD fibroblast treated with 1 mM of VPA. Conclusion: We propose VPA as a promising novel therapeutic approach in oxidant damage that warrants further clinical investigation in X-ALD.

• Annals of Surgical Treatment and Research
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• v.95 no.5
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• pp.286-296
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• 2018

Purpose: Sentinel lymph node (SLN) biopsy (SLNB) is widely accepted for staging of melanoma patients. It has been shown that clinico-pathological features such as Breslow thickness, ulceration, age, and sex are better predictors of relapse and survival than SLN status alone. The aims of this study were to evaluate the long-term (10-year) prognostic impact of SLNB and to determine predictive factors associated with SLN metastasis, relapse, and melanoma specific mortality (MSM). Methods: This was a prospective observational study on 289 consecutive patients with primary cutaneous melanoma who underwent SLNB from January 2000 to December 2007, and followed until January 2014, at an Italian academic hospital. Results: SLN was positive in 64 patients (22.1%). The median follow-up was 116 months (79-147 months). Tenyear disease-free survival and melanoma specific survival were poor in patients with positive SLN (58.7% and 66.4%, respectively). Only the increasing Breslow thickness resulted independently associated to an increased risk of SLN metastasis. Cox regression analysis showed that a Breslow thickness >2 mm was an independent predictor of relapse, and male sex and Breslow thickness >2 mm was a predictor of MSM. At 10 years, SLN metastasis was not significantly associated to either relapse or MSM. Conclusion: After the fifth year of follow-up, SLN metastasis is not an independent predictive factor of relapse or mortality which are mainly influenced by the characteristics of the primary tumor and of the patient. Patients with a Breslow thickness >2 mm regardless of the SLN status should be considered at high risk for 10-year relapse and mortality.

• Korean Journal of Psychosomatic Medicine
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• v.30 no.2
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• pp.137-144
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• 2022

Objectives : This study was designed to investigate the effect of sleep quality on depression symptoms and the mediating effect of interpretation bias and anxiety symptoms in psychiatric patients. Methods : Data accumulated for outpatients and inpatients in the Department of Mental Health Medicine at Hanyang University Guri Hospital were used. The measurement tools were Pittsburgh Sleep Quality Index (PSQI), Ambiguous/Unambiguous Situations Diary-Extended Version (AUSD-EX), Beck Anxiety Inventory (BAI), Beck Depression Inventory-II (BDI-II). Correlation analysis and bootstrapping analysis were conducted using SPSS 25.0 and SPSS Macro based on 162 patient data. Results : As a result of the study, the double mediating effect of interpretation bias for Ambiguity and anxiety symptoms was significant in the relationship between sleep quality and depression symptoms. Conclusions : In this study, it was confirmed that low sleep quality sequentially affects anxiety and depression symptoms through interpretation bias for ambiguity. Based on this, it is expected that the development of other psychiatric symptoms can be prevented by preferentially performing therapeutic intervention on preceding symptoms.

• Pediatric Infection and Vaccine
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• v.28 no.3
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• pp.144-148
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• 2021

Purpose: Nonpharmaceutical measures, such as social distancing, have resulted in unintended consequences, including a decrease in the incidence of childhood diseases. This study aimed to estimate the impact of social distancing on the incidence of febrile seizure (FS) in Korea using nationally representative data. Methods: We used claims data from the Health Insurance Review and Assessment Service, a single-payer database capturing >95% of the Korean population. The database included any inpatient encounter with a FS diagnosis from January 2010 to September 2020 for those aged 0-5 years old. We aggregated the monthly number of cases to estimate the incidence per 100,000 patient-years in 2020 (January 1 to September 30) for the same periods in 2010-2019. Results: The incidence of FS in 2020 ranged from 113 per 100,000 (95% confidence interval [CI], 108-118 per 100,000) in January to 27 per 100,000 (95% CI, 25-30 per 100,000) in September, whereas the average FS incidence in 2010-2019 ranged from 116 per 100,000 (95% CI, 112-121 per 100,000) in January to 101 per 100,000 (95% CI, 97-106 per 100,000) in September. Conclusions: The incidence of FS decreased by -38% in 2020, suggesting that social distancing contributed towards decreasing the incidence of FS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.1-9
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• 2024

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode (MELAS) is a rare maternally inherited disorder primarily caused by mutations in mitochondrial DNA, notably the m.3243A>G mutation in the MT-TL1 gene. This mutation impairs mitochondrial function crucial for cellular energy production, particularly in high-energy-demanding organs such as the brain and muscles. MELAS manifests as recurrent stroke-like episodes, seizures, diabetes mellitus, cardiomyopathy, and other multisystemic symptoms that are often present in childhood. The diagnosis combines genetic testing, clinical evaluation, and neuroimaging, with elevated lactate levels and characteristic magnetic resonance imaging (MRI) findings as key indicators. Treatment focuses on symptomatic management and enhancement of mitochondrial function through L-arginine, coenzyme Q10, high-dose vitamins, and taurine supplementation. Studies have identified additional genetic variants linked to MELAS, including mutations in POLG and other mitochondrial genes, further complicating the genetic landscape. Emerging therapies, particularly gene therapy and mitochondria-targeting drugs, offer promising avenues for addressing the underlying genetic defects and improving mitochondrial functioning. Furthermore, ongoing studies continue to enhance our understanding and management of MELAS, with the aim of reducing its burden and improving patient outcomes and quality of life. This review summarizes the current knowledge on the genetics, clinical features, diagnosis, and treatment of MELAS, highlighting the latest advancements and future directions for therapeutic interventions.

• Childhood Kidney Diseases
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• v.2 no.1
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• pp.60-68
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• 1998

Purpose: To determine the various prenatal factors related to the prenatal hydronephrosis diagnosed on prenatal ultrasonography. We also attempted to correlate the prenatal and neonatal renal pelvic anteroposterior diameter with the outcome in infancy Methods: Between 1985 and 1997. We retrospectively reviewed 105 renal unit (75 patient) with fetal hydronphrosis persisting postnatally. Investigation consisted of renal ultrasonography, voiding cystourethrography, diurectic renogram, and DMSA scan. Results: The 75 patient assesed had the following underlying cause: UPJ(Ureteropelvic juction) obstruction(52%). multicystic dysplastic kidney(10%). UVJ (Ureterovesicai juction) obstruction (10%) and no underlying cause (25%). Of theses cases 36 cases (40 renal unit) underwent operation, while 28 cases (50 renal unit) resoled spontaneously. 12% of mild hydornephrosis deteriorated. whereas 50% of modrate hydrophrosis and 81% of severe hydronephrosis required surgical correction. Attempting to find the renal unit that were at risk for deterioration. our study showed that urinary tract infection group and calyceal blunting group had a predictive role. Conclusion: It is necessary to follow up after birth dilatation of caylx or urinary tract infection are present. Early operation is considered when prenatal pelvic AP diameter greater is than 22 mm and postnatal diameter greater than 17 mm. This may make it possible to prevent further progression of renal damage and prompt treatment of asymptomatic hydronephrosis before complications occur.