• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of Chest Surgery
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• v.34 no.5
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• pp.430-433
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• 2001

폐에 발생하는 원발성육종은 모든 연령측에서 매우 드물고 종야잉 꽤 커질 때 까지 증상이 없는 경우가 있다. 갑작스런 흉통을 주소로 내원한 50세 여자는 자발성 혈흉을 동반한 폐종양이 발견되어 수술을 시행하였다. 수술은 우상엽절제술과 임파절곽청술을 시행하였고 술후 병리조직학적 검사에서 섬유육종으로 진단되었다.

• Neonatal Medicine
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• v.15 no.2
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• pp.166-171
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• 2008

Purpose : This study was performed to determine the rate of neonatal symptomatic spontaneous pneumothorax, and the corresponding clinical characteristics, co-morbidities, and outcomes. Methods : The demographic characteristics, clinical symptoms and signs, associated abnormalities, methods of treatment, and outcomes were investigated in 22 neonates with symptomatic spontaneous pneumothorax in the neonatal intensive care unit (NICU) of Chonnam University Hospital between March 2003 and February 2008. Results : The rate of spontaneous pneumothorax was 0.55%. Among the 22 neonates, the number of outborns was 15 (68.2%) and the number of males was 12 (54.5%). The main symptoms and signs were chest retraction, tachypnea, and cyanosis. The pneumothoraces were more frequent on the right side (59.1%) and all cases were diagnosed within 3 days of life. Four cases (18.2%) had urologic abnormalities and 7 cases (31.8%) had cranial abnormalities by ultrasonography. The treatments included oxygen (81.8%) and oxygen with chest tube drainage (18.2%). All of the infants survived and the overall outcomes were favorable. Conclusion : When respiratory symptoms and signs are develop abruptly in otherwise healthy newborns, the clinician should suspect a spontaneous pneumothorax and check a chest x-ray as soon as possible. Although the outcome of neonatal symptomatic spontaneous pneumothorax is favorable, renal and cranial ultrasonography are needed because of the higher possibility of urologic abnormalities and germinal matrix/intraventricular hemorrhage than in newborns without a pneumothorax.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.1
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• pp.1-4
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• 2009

뇌성마비(Cerebral Palsy)는 임신 중이나 출산, 또는 신생아기에 발생된 뇌손상에 의해 발생하는 중추성 자세 및 운동 장애를 말한다. 뇌성마비는 여러 가지 합병증 및 동반증상을 가지게 되는데, 그 증상들에는 지적장애, 언어장애, 간질, 시각장애, 자폐, 이갈이 및 섭식연하장애 등이 있다. 뇌성마비 장애인에서 나타나는 치과적 특징과 고려사항, 그리고 이들의 구강건강관리에 대해 알아보고자 한다.

• The Academic Congress of Korean Shoulder and Elbow Society
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• 2006.11a
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• pp.122-127
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• 2006

관절와 상완 관절의 후상방의 병적 변화로 통증이 유발되는 internal impingement는 overhead athlete뿐만아니라 nonathlete에서도 비교적 흔한 질환이다. 특징적인 동통, 특정 동작에 악화되는 증상 및 선택적인 검사 및 MRI검사 등을 통해 진단할 수 있으며, 확진은 관절경적 검사에 의한다. 보존적인 치료가 질병초기에는 효과적이다. 만약 증상이 지속 또는 악화된다면 수술적인 치료가 필요하며 다양한 수술적 방법들이 있다. 주 병변에 대한 적극적인 치료가 이루어져야 하며, 전방관절의 microinstability or laxity에 대한 치료, tight posteroinferior capsule에 대한 capsular release 및 동반된 rotator cuff 및 labrum의 병변에 대한 치료가 이루어 져야 한다.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.136-143
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• 1997

Purpose : To evaluate the prevalence and clinical manifestations of various glomerulonephritis(GN) in children with asymptomatic urinary abnormalities, a clinicopathological analysis of 134 biopsied cases which were subdivided into 3 groups of proteinuria with hematuria, isolated hematuria and isolated proteinuria was done. Methods : We conducted retrospective study with review of histopathologic findings and clinical manifestations of the 134 cases with asymptomatic urinary abnormalities diagnosed by percutaneous renal biopsy which were done between January 1986 and December 1996 at department of pediatrics, Pusan Paik hospital. Results : 1) The proportion of children with asymptomatic urinary abnormalities was 43.2% of all biosied cases. 2) Among these, primary GN were 95 cases and secondary GN were 39 cases, it's ratio was 2.44:1. As a whole, the most common pathologic diagnosis was IgA nephropathy(IgAN, 26.9%), which was followed by $Henoch-Sch\"{o}nlein$ purpura nephritis(HSPN, 17.9%), minimal change lesion(MC, 17.2%), thin GBM disease(12.7%), Hepatitis B associated glomerulonephritis(HBGN, 6.0%), poststreptococcal glomerulonephritis(PSAGN, 3.0%), mesangial proliferative glomerulonephritis(MesPGN, 2.2%), membranoproliferative glomerulonephritis (MPGN, 2.2%), Alport syndrome (1.5%) and Fibrillary nephritis(0.7%). 3) In proteinuria with hematuria, the most common pathologic diagnosis was IgAN(34.6%), which was followed by HSPN(19%), MC(17.7%), thin GBM disease(8.9%), HBGN(6.3%), PSAGN(3.6%), MesPGN(1.2%), MPGN(1.2%) and Alport syndrome(1.2%). 4) Major causes of isolated hematuria were thin GBM disease(19.6%), IgAN(17.6%), HSPN(17.6%), MC(11.8%). 5) Isolated proteinuria was due to of 3 cases of MC and 1 case of HBGN. Conclusion : The prevalence of glomerulonephritis with asymptomatic urinary abnormalities in children were 43.2% of all biopsed cases. When these children were subdivided into 3 groups, proteinuria with hematuria was accounted 58.9%(79 cases) and then isolated hematuria was 38.1%(51 cases), isolated proteinuria was only 3%(4 cases) respectively. The most common pathologic diagnosis was IgA nephropathy in patient with proteinuria and hematuria, and thin GBM disease in patient with isolated hematuria.

• Radiation Oncology Journal
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• v.7 no.2
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• pp.321-324
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• 1989

Vertebral hemangiomas are rarely symptomatic and have been treated by surgical managementsin patients with symptoms. A case of symptomatic vertebral hemangioma which was treated by radiotherapy successfully is presented.

• The Journal of Korean Medicine
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• v.22 no.2
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• pp.102-108
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• 2001

목적 : 단순포진바이러스로 유발한 베체트병 마우스 모델에서 가미청혈보혈탕과 가미 용담사간탕을 colchicine과 함께 투여할 경우, 한방 혹은 양방 단독 투여의 경우와 비교하여 베체트병 증상의 호전에 어떠한 영향을 주는지 알아보고자 하였다. 방법 : colchicines, 가미 청혈보혈탕, 가미용담사간탕을 각각 또는 colchicines+가미 청혈보혈탕, colchicines+가미용담 사간탕을 20일간 복합 투여하여 베체트 증상이 호전되는 정도를 살펴보고, 호전 되는 증상의 종류를 파악하고, 이때 동반되는 싸이토카인을 RT-PCR, FACS등으로 확인하고자 하였다. 결과 : 단독투여군보다 복합투여군에서 증상이 호전되는 율이 높았으며, 호전 시기를 앞당겼고, 이때 싸이토카인 interteukin-4의 발현이 증가하였다. 결론 ; 베체트병 마우스 모델에서, 양방과 한방의 복합투여가 단독투여보다 증상의 호전에 보다 더 효과적이었다.

• Pediatric Infection and Vaccine
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• v.14 no.1
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• pp.104-110
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• 2007

Streptococcus pyogenes, which is classified to Group A streptococcus (GAS), is one of the most common bacterial pathogens of the childhood infection. This organism can cause acute bacterial pharyngitis, impetigo, peritonsilar abscess or scarlet fever. It can also cause severe invasive diseases such as toxic shock syndrome, sepsis, septic arthritis, necrotizing pneumonia or necrotizing fasciitis. Usually, invasive GAS infections are accompanied by systemic symptoms and signs. Necrotizing pneumonia presents with acute fever, pleuritic chest pain and cough. The progress of disease is usually rapid and typically, pleural effusion develops in the early course of disease. Necrotizing fasciitis is relatively rare but once it has developed, it may be life threatening and cause necrosis of adjacent soft tissues with rapid progress. Clinical manifestations of parapharyngeal abscess are fever, dysphagia or bulging of pharyngeal wall. We experienced three cases of GAS infections which were presented atypically.

• Journal of Yeungnam Medical Science
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• v.21 no.2
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• pp.207-214
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• 2004

Purpose: This study was carried out to evaluate the efficacy of intravaginal pelvic floor electrical stimulation (FES) therapy on bladder irritability symptoms in stress urinary incontinent women. Materials and Methods: The evaluation before and after treatment included the Blaivas's female Bladder Questionnaire, the quality of life questionnaires and the overall satisfaction with present voiding state using visual analogue test (VAT). All patient were treated for 20 minutes, twice a week for 6 weeks, using a new intravaginal electrical stimulator with microchip (PIC16C74). Results: After the FES therapy, the overall success rate of the SUI was 50.4.% at 9 months. The bladder irritability symptoms such as frequency, nocturia, urgency, residual urine sensation and lower abdominal discomfort were improved. In particular, the symptoms of frequency, urge incontinence, dysuria were significantly improved after the FES therapy at 9 months. The VAT score of the overall satisfaction with the present voiding state was significantly lower after the FES therapy. 73.7% of patients were satisfied with the FES therapy and complications such as hemorrhage, vaginitis, urinary tract infection and pain were not encountered. Conclusion: These results suggest that FES therapy with microchip improves some bladder irritability in SUI women. Therefore, electrical stimulation therapy should be considered as a first line therapy in SUI women with bladder irritability symptoms.