• Pediatric Infection and Vaccine
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• 제31권1호
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• pp.122-129
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• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

• Pediatric Infection and Vaccine
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• 제14권1호
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• pp.116-119
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• 2007

범저감마글로불린혈증은 X 염색체에 의해 유전되는 질환으로 주로 1세 이전에 진단이 가능하지만, 진단이 늦어질 경우 반복된 감염 및 중증 감염으로 인한 심각한 후유증을 남길 수 있으므로 조기 진단과 치료가 매우 중요하다. 증상이 다양하게 나타날 수 있으므로 진단을 위한 각별한 주의가 요구된다. 저자들은 반복적이고 심각한 감염의 병력에도 8세가 돼서야 범저감마글로불린혈증 진단을 받은 환아와 그로 인해 함께 진단 받은 친형의 사례를 경험하였기에 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제4권2호
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• pp.249-255
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• 2001

저자들은 출생 3개월 경 모유에서 분유로 수유를 바꾸면서 시작된 반복되는 구토, 탈수, 성장장애, 대사성 산증, 고암모니아혈증을 보이는 6개월된 남아에서 메틸말로닐 산혈증으로 진단하고 단백질 제한 식이와 비타민 $B_{12}$ 투여로 호전을 보이고 있는 환아 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한골관절종양학회지
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• 제12권1호
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• pp.47-51
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• 2006

골섬유성 이형성증은 10세 이전에 드물게 발생하는 골종양으로 소파술이나 변연부 절제 후 흔한 재발 및 활성의 증가를 보이며 광범위 골막외 절제술 후에도 재발하는 경우가 있어 치료에 어려움이 따른다. 저자들은 소파술 후 거듭된 재발을 보인 경골의 골섬유성 이형성증에 대하여 광범위 골막외 절제와 함께 유리 생비골 이식술을 시행하여 치유를 얻은 골섬유성 이형성증 1예를 치험 하였기에 문헌 고찰과 함께 보고하고자 한다.

• Journal of Chest Surgery
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• 제46권2호
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• pp.117-123
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• 2013

Background: We examined perioperative predictors of sustained sinus rhythm (SR) in patients undergoing the Cox maze operation and concomitant cardiac surgery for structural heart disease. Materials and Methods: From October 1999 to December 2008, 90 patients with atrial fibrillation (AF) underwent the Cox maze operation and other concomitant cardiac surgery. Eighty-nine patients, all except for one postoperative death, were followed-up with serial electrocardiographic studies, 24-hour Holter monitoring tests, and regular echocardiographic studies. Results: Eighty-nine patients undergoing the maze operation were divided into two groups according to the presence of SR. At the time of last follow-up (mean follow-up period, $51.0{\pm}30.8$ months), 79 patients (88.8%) showed SR (SR group) and 10 patients (11.2%) had recurrent AF (AF group). Factors predictive of sustained SR were the immediate postoperative conversion to SR (odds ratio, 97.2; p=0.001) and the presence of SR at the 6th month postoperatively (odds ratio, 155.7; p=0.002). Duration of AF, mitral valve surgery, number of valves undergoing surgery, left atrial dimension, and perioperative left ventricular dimensions and ejection fractions were not predictors of postoperative maintenance of SR. Conclusion: Immediate postoperative SR conversion and the presence of SR at the 6th postoperative month were independent predictors of sustained SR after the maze operation.

• Clinical and Experimental Pediatrics
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• 제49권10호
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• pp.1111-1115
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• 2006

유전성 췌장염은 비교적 젊은 연령에서 다른 이유 없이 반복적으로 급성 췌장염으로 나타나는데 나이가 들면서 만성 췌장염으로 이행된다. 동일 가계 내에 2세대 이상에 걸쳐서 3명 이상의 췌장염 환자가 있을 때 진단이 가능하며 이와 관련된 유전자로 trypsinogen을 만드는 PRSS1 유전자 변이(R122H, N29I)가 가장 대표적으로 알려져 있다. 저자들은 3세부터 반복적인 췌장염으로 입원 치료를 했던 15세 환아와 반복적 췌장염을 앓은 환아모, 환아 동생을 대상으로 CT 유전자의 exon 2, 3의 염기 서열을 분석하여 환아와 환아모에서 국내 처음으로 N29I 변이를 경험하였기에 보고하는 바이다.

• Journal of Korean Dental Science
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• 제9권1호
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• pp.35-41
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• 2016

Langerhans cell histiocytosis (LCH) is characterized by proliferation of histiocyte-like cells (Langerhans cell histiocytes) with characteristic Birbeck granules, accompanied by other inflammatory cells. Treatments of LCH include surgery, chemotherapy, and radiotherapy. One of the representative forms of chemotherapy is intralesional injection of steroids. Surgical treatment in the form of simple excision, curettage, or even ostectomy can be performed depending on the extent of involvement. Radiotherapy is suggested in case of local recurrence, or a widespread lesion. This article shows the case of repetitively recurrent LCH of a 56-year-old man who had been through surgical excision and had to have marginal mandibulectomy and radiotherapy when the disease recurred. After the first recurrence occurred, lesions involved the extensive part of the mandible causing pathologic fracture, so partial mandibular bone resection was performed from the right molar area to the left molar area followed by the excision of the surrounding infected soft tissues. The resected mandibular bone was reconstructed with a segment of fibula osteomyocutaneous free flap and overdenture prosthesis supported by osseointegrated implants.

• Parasites, Hosts and Diseases
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• 제55권3호
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• pp.313-317
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• 2017

Paragonimiasis is a parasitic disease caused by Paragnonimus species. The primary site of infection is the lung, and extrapulmonary involvement is also reported. When infected with Paragonimus westermani, which is the dominant species in Korea, the central nervous system is frequently involved along with the liver, intestine, peritoneal cavity, retroperitoneum, and abdominal wall. Ectopic paragonimiasis raises diagnostic challenge since it is uncommon and may be confused with malignancy or other inflammatory diseases. Here, we report an ectopic paragonimiasis case initially presented with recurrent abdominal pain. The patient developed abdominal pain 3 times for the previous 3 years and the computed tomography (CT) of the abdomen revealed fluid collection with wall enhancement. Recurrent diverticulitis was initially suspected and part of the ascending colon was resected. However, the specimen showed intact colon wall without evidence of diverticulitis and multiple parasite eggs and granulomas were found instead. The size of about $70{\mu}m$, the presence of an operculum and relatively thick egg shell suggested eggs of Paragonimus species. With appropriate exposure history and a positive antibody test, the definitive diagnosis was made as peritoneal paragonimiasis.

• Journal of Crop Science and Biotechnology
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• 제11권4호
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• pp.263-268
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• 2008

Bacterial leaf pustule (BLP) caused by Xanthomonas axonopodis pv. glycines is a serious disease to make pustule and chlorotic haloes in soybean [Glycine max (L). Merr.]. While inheritance mode and map positions of the BLP resistance gene, rxp are known, no sequence information of the gene was reported. In this study, we made five near isogenic lines (NILs) from separate backcrosses (BCs) of BLP-susceptible Hwangkeumkong $\times$ BLP-resistant SS2-2 (HS) and BLP-susceptible Taekwangkong$\times$ SS2-2 (TS) through foreground and background selection based on the four-stage selection strategy. First, 15 BC individuals were selected through foreground selection using the simple sequence repeat (SSR) markers Satt486 and Satt372 flanking the rxp gene. Among them, 11 BC plants showed the BLP-resistant response. The HS and TS lines chosen in foreground selection were again screened by background selection using 118 and 90 SSR markers across all chromosomes, respectively. Eventually, five individuals showing greater than 90% recurrent parent genome content were selected in both HS and TS lines. These NILs will be a unique biological material to characterize the rxp gene.

• 대한후두음성언어의학회지
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• 제31권1호
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• pp.35-38
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• 2020

Spasmodic dysphonia is a disease presumed to be a form of focal laryngeal dystonia. The widely used first-line treatment is botulinum toxin injection to the thyroarytenoid muscles. In spite of the effectiveness and safety of this method, it has a temporary effect that lasts only several months, resulting the patients' symptom fluctuating, called 'Botox rollercoaster.' Some surgical techniques had tried, but they had shown several limitations including high rate of recurrence. We tried thyroarytenoid myectomy with selective recurrent laryngeal nerve section in a patient with intractable spasmodic dysphonia. This procedure is an alternative treatment of spasmodic dysphonia to prevent recurrence and improve symptoms. During five years of follow-up, she has shown steady quality voice without any complication. To the best of our knowledgement, this is the longest follow-up case of this operation in South Korea.