• Clinical and Experimental Pediatrics
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• 제54권5호
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• pp.197-200
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• 2011

Respiratory syncytial virus (RSV) is a major cause of respiratory infection in children. Most of the pediatric population have RSV infection before the age of 2, and recurrent infections are common even within one season. Chronic lung disease, prematurity, along with congenital heart disease (CHD) are major risk factors in severe lower respiratory infection. In hemo-dynamically significant CHD patients with RSV infection, hospitalization is usually needed and the possibility of treatment in intensive care unit and the use of mechanical ventilator support are known to increase. Therefore the prevention of RSV infection in CHD patients is mandatory. The current standard for RSV prevention is immunoprophylaxis by palivizumab. Immunoprophylaxis is recommended monthly in hemodynamically significant CHD patients, up to 5 months. Motabizumab, a second generation drug and newly developing RSV vaccines are also expected to play a key role in RSV prevention in the future. The prophylaxis of RSV infection in CHD patients is cost-effective in both the medical aspect of the patients as well as the socio-economic aspect. Therefore an effort to promote prevention should be made by not only the family of the patients but also by the government.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.86-89
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• 2017

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

• Clinical and Experimental Pediatrics
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• 제59권4호
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• pp.196-201
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• 2016

Chronic granulomatous disease (CGD) is a rare inherited disorder caused by defective nicotinamide adenine dinucleotide phosphate oxidase enzyme and characterized by recurrent bacterial and fungal infections. Although liver abscess is a common manifestation of CGD, its management in CGD patients is not well-defined. In addition, the generalized guidelines for treating liver abscesses do not necessarily apply to CGD patients. Corticosteroids are commonly used to control granulomatous complications, such as inflammatory gastrointestinal and genitourinary lesions, in patients with CGD, Corticosteroids have also been used in combination with antimicrobials to treat refractory infections in patients with CGD. Because corticosteroids are capable of suppressing symptomatic inflammation, all potential infections must be adequately controlled prior to corticosteroid initiation. We report 3 typical CGD cases with liver abscesses refractory to conventional treatments that were successfully treated with the concomitant use of corticosteroid and antimicrobials. It remains unclear whether corticosteroid therapy is required for liver abscesses in CGD refractory to conventional treatments. However, based on our observations, use of corticosteroids in combination with optimal antimicrobials should be considered for refractory liver abscesses in CGD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권1호
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• pp.71-75
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• 2016

Esophageal candidiasis is commonly seen in immunocompromised patients; however, candida esophagitis induced stricture is a very rare complication. We report the first case of esophageal stricture secondary to candidiasis in a glycogen storage disease (GSD) 1b child. The patient was diagnosed with GSD type 1b by liver biopsy. No mutation was found in the G6PC gene, but SLC37A4 gene sequencing revealed a compound heterozygous mutation (p.R28H and p.W107X, which was a novel mutation). The patient's absolute neutrophil count was continuously under $1,000/{\mu}L$ when he was over 6 years of age. He was admitted frequently for recurrent fever and infection, and frequently received intravenous antibiotics, antifungal agents. He complained of persistent dysphagia beginning at age 7 years. Esophageal stricture and multiple whitish patches were observed by endoscopy and endoscopic biopsy revealed numerous fungal hyphae consistent with candida esophagitis. He received esophageal balloon dilatation four times, and his symptoms improved.

• 대한신경과학회지
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• 제36권4호
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• pp.341-344
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• 2018

It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb weakness and her brain magnetic resonance imaging revealed multiple ischemic brain lesions. Ten years ago, the patient had been diagnosed with heterozygote FD by the genetic test, but she had not shown any typical symptoms or sign of FD so far. Isolated organ involvement could occur in heterozygote FD.

• Journal of Yeungnam Medical Science
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• 제40권1호
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• pp.12-22
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• 2023

Graves disease (GD) is the most common cause of hyperthyroidism, accounting for more than 90% of cases in Korea. Patients with GD are treated with any of the following: antithyroid drugs (ATDs), radioactive iodine (RAI) therapy, or thyroidectomy. Most patients begin treatment with ATDs, and clinical guidelines suggest that the appropriate treatment period is 12 to 18 months. While RAI treatment and surgery manage thyrotoxicosis by destroying or removing thyroid tissue, ATDs control thyrotoxicosis by inhibiting thyroid hormone synthesis and preserving the thyroid gland. Although ATDs efficiently control thyrotoxicosis symptoms, they do not correct the main etiology of GD; therefore, frequent relapses can follow. Recently, a large amount of data has been collected on long-term ATDs for GD, and low-dose methimazole (MMZ) is expected to be a good option for remission. For the long-term management of recurrent GD, it is important to induce remission by evaluating the patient's drug response, stopping ATDs at an appropriate time, and actively switching to surgery or RAI therapy, if indicated. Continuing drug treatment for an extended time is now encouraged in patients with a high possibility of remission with low-dose MMZ. It is also important to pay attention to the quality of life of the patients. This review aimed to summarize the appropriate treatment methods and timing of treatment transition in patients who relapsed several times while receiving treatment for GD.

• 대한영상의학회지
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• 제85권2호
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• pp.451-455
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• 2024

특이 외상력 없이 우측 1, 2번 갈비뼈 골용해와 자발성 유미흉을 주소로 내원한 45세 남환이 임상 양상과 골생검을 통해 고함-스타우트병으로 확진된 증례를 보고하고자 한다. 자발성 유미흉의 치료를 위해 림프관 색전술을 시행하였고 성공적인 시술 직후 유미흉은 호전되었다. 하지만 15개월간의 관찰 동안 시롤리무스(sirolimus) 투여에도 불구하고 유미흉이 재발되었고 흉부 불편감과 골용해는 진행되었다.

• Tuberculosis and Respiratory Diseases
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• 제57권2호
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• pp.183-187
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• 2004

저자들은 30세 남자 환자에서 골수이식 후 발생한 만성 이식편대숙주질환에 의한 폐쇄성 세기관지염으로 인하여 발병한 이차성 재발성 기흉의 임상적 진단 및 스테로이드와 면역 억제제 치료 후 호전된 증례를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.

• Radiation Oncology Journal
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• 제29권4호
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• pp.243-251
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• 2011

Purpose: To evaluate the prognostic value of metabolic tumor volume (MTV) and maximum standardized uptake value (SUVmax) on initial positron emission tomography-computed tomography (PET-CT) and investigate the clinical value of SUVmax for early detection of locoregional recurrent disease after postoperative radiotherapy in patients with locally advanced head and neck squamous cell carcinoma (HNSCC). Materials and Methods: A total of 100 patients with locally advanced HNSCC received primary tumor excision and neck dissection followed by adjuvant radiotherapy with or without chemotherapy. The MTV and SUVmax were measured from primary sites and neck nodes. The prognostic value of MTV and SUVmax were assessed using initial staging PET/CT (study A). Follow-up PET/CT scan available after postoperative concurrent chemoradiotherapy or radiotherapy were evaluated for the SUVmax value and correlated with locoregional recurrence (study B). A receiver operating characteristic (ROC) curve analysis was used to define a threshold value of SUVmax with the highest accuracy for recurrent disease assessment. Results: High MTV (>41 mL) is negative prognostic factor for disease free survival (p = 0.041). Postradiation SUVmax was significantly correlated with locoregional recurrence (hazard ratio, 1.812; 95% confidence interval, 1.361 to 2.413; P < 0.001). A cutoff value of 5.38 from follow-up PET/CT was identified as having maximal accuracy for detecting locoregional recurrence by ROC analysis. Conclusion: MTV at staging work-up was significantly associated with disease free survival. The SUVmax value from follow-up PET/CT showed high diagnostic accuracy for the detection of locoregional recurrence in postoperatively irradiated HNSCC.

• 대한정형외과스포츠의학회지
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• 제2권2호
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• pp.77-81
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• 2003

목적: 슬관절 주위 골격의 기초과학을 생체역학을 중심으로 설명하고 빈도가 높은 스포츠 손상들에 대해 기술하고자 한다. 해부 밀 운동학: 슬관절은 순수한 경첩 관절이 아니며 적합하지 않으므로 여섯 방향의 운동이 가능하다. 경골대퇴간 운동역학: 슬관절의 굴곡-신전 축은 시상면에 수직이 아닐 뿐 아니라, 관상면상 관절선과 평행하지 않으므로, 경골대퇴관절은 굴곡 시 내반과 내회전이 동반되고 신전 시에는 외반과 외회전이 동반된다. 슬개대퇴 관절: 슬개대퇴 관절 압박력은 슬관절의 굴곡 각도와 사두고근력에 비례한다 슬개골은 신전기전의 moment arm을 증가시켜 신전기전의 효율을 증대시키고 지렛대 역할을 한다. 슬개골 골절: 비전위성 골절이면서 하지 직거상 운동이 보존된 경우에 비수술적 치료의 적응증이 되며 수술적 치료 시 고정 방법의 선택은 골절 양상에 따라 결정되겠으나 어느 술식을 선택하여도 신전지대의 봉합은 필수적이며 중요하다 슬개골 불안정성: 선행 해부학적 이상을 조사해야 하며 급성 탈구에서도 골연골 골절편이 있거나 재발의 위험이 높은 운동선수에서 인대 봉합을 고려할 수 있다. 비수술적 치료 및 재활에도 불수하고 계속되는 재발성 아탈구나 탈구는 수술이 필요하다 학령기 스포츠 손상: Idiopathic Adolescent Anterior Knee Pain, Osgood-Schlatter Disease, Sinding-Larsen-Johansson Disease 등이 흔하다