• 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.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제33권6호
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• pp.540-548
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• 2011

Proteus syndrome is a congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Proteus syndrome features partial gigantism and asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, macrocephaly, cranial hyperostosis, and long bone overgrowth. We diagnosed Proteus syndrome in a male patient who visited our hospital with a chief complaint of limited mouth opening and report the case because we obtained a good healing outcome after treating the condition with a corrective osteotomy.

• 한국임상수의학회지
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• 제25권2호
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• pp.115-118
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• 2008

22 dogs (31 eyes) that had treated with trimethoprim-sulfamethoxazole for tear staining syndrome at Snoopy Pet Clinic from October 2000 to September 2002 were reviewed. Of the 22 dogs, 12 were female and 10 male. Their mean (${\pm}$ SD) age was 3.5 (${\pm}\;1.3$) years. The breeds of the dogs consisted of Maltese (8 dogs), Shih tzu (6 dogs), Poodle (5 dogs), Yorkshire terrier (2 dogs), and Mixed (1 dog). The dogs received 30 mg/kg trimethoprim-sulfamethoxazole perorally twice daily for two to six weeks. 26 (19 dogs) of the 31 eyes (22 dogs) recovered completely and did not show relapse at $26{\sim}30$ weeks after treatment. Any complications did not observed. Five eyes of three dogs were not cured. Two eyes (one dogs) of them had not response to medicament and three eyes (two dogs) recurrence but the clinical signs decreased. It was considered that the trimethoprim-sulfamethoxazole was effective for the treatment in dogs with tear staining syndrome.

• Journal of Yeungnam Medical Science
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• 제32권2호
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• pp.122-126
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• 2015

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a monoclonal plasma cell disorder. Patients with POEMS syndrome also have various clinical manifestations including generalized edema, pleural effusion, ascites, papilledema, and sclerotic bone lesions. These manifestations can lead to a misdiagnosis or delayed diagnosis. We recently experienced a 51-year-old male patient with POEMS syndrome whose sclerotic bone lesion was misdiagnosed as malignant bone metastasis of papillary thyroid carcinoma. We reassessed the patient and found polyneuropathy, hepatosplenomegaly, hypothyroidism, partial hypopituitarism, immunoglobulin G lambda-type monoclonal gammopathy, hypertrichosis, ascites, and multiple sclerotic bone lesions, all of which led us to a diagnosis of POEMS syndrome. Treatment with thalidomide and dexamethasone resulted in clinical and radiological improvement. The patient has remained in remission after peripheral blood stem cell transplantation.

• 한국환경보건학회지
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• 제41권5호
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• pp.335-348
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• 2015

Objectives: We aimed to assess the risk of metabolic syndrome one year after the 2007 Hebei Spirit oil spill in Taean, Korea among people exposed to spilt oil during clean-up work. Methods: A total of 6,923 adults, including 3,019 males and 3,904 females, participated in the study. Health examinations and blood tests (total cholesterol, triglycerides, HDL, fasting blood sugar) were performed. A logistic regression model adjusting for age, gender, smoking history, drinking history, income, education, and marital status was used to estimate the risk of metabolic syndrome associated with the level of oil spill exposure. Results: The prevalence of metabolic syndrome was 24.9% among males and 18% among females. Compared with people living within 20 km of the coastline, the risk of metabolic syndrome among people living within 0.8 km of the coastline was significantly higher (male OR=1.696, 95% CI=1.320-2.178, female OR=1.992, 95% CI=1.549-2.561), including a significant dose-response relationship for distance from early contaminate coastline (p<0.001). The risk of metabolic syndrome was higher according to the increase of duration of cleaning work. The risk of metabolic syndrome among people who participated in the clean-up work for more than 116 days, compared with people who participated in the cleaning work for or less 14 days, was significantly higher (male OR=1.845, 95% CI=1.448-2.353, female OR=1.752, CI=1.378-2.228), with a significant dose-response relationship for days of clean-up work (p<0.001). Conclusion: This study showed that there is a significant association between exposure to the oil spill during the clean-up work, distance from early contaminate coastline and the risk of metabolic syndrome in a doseresponse manner.

• Translational and Clinical Pharmacology
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• 제25권2호
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• pp.63-66
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• 2017

Allopurinol-induced severe cutaneous adverse reactions (SCARs) such as Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome are reportedly associated with the $HLA-B^{\star}58:01$ genotype. Three patients who developed SCARs after allopurinol administration were subjected to HLA-B genotyping and lymphocyte activation test (LAT) to evaluate genetic risk and to detect the causative agent, respectively. All three patients given allopurinol to treat gout were diagnosed with DRESS syndrome. Symptom onset commenced 7-24 days after drug exposure; the patients took allopurinol (100-200 mg/d) for 2-30 days. HLA-B genotyping was performed using a polymerase chain reaction (PCR)-sequence-based typing (SBT) method. All patients had a single $HLA-B^{\star}58:01$ allele: $HLA-B^{\star}13:02/^{\star}58:01$ (a 63-year-old male), $HLA-B^{\star}48:01/^{\star}58:01$ (a 71-year-old female), and $HLA-B^{\star}44:03/^{\star}58:01$ (a 22-year-old male). Only the last patient yielded a positive LAT result, confirming that allopurinol was the causative agent. These findings suggest that patients with $HLA-B^{\star}58:01$ may develop SCARs upon allopurinol administration. Therefore, HLA-B genotyping could be helpful in preventing serious problems attributable to allopurinol treatment, although PCR-SBT HLA-B genotyping is time consuming. A simple genotyping test is required in practice. LAT may help to identify a causative agent.

• The Korean Journal of Pain
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• 제23권1호
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• pp.70-73
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• 2010

Complex regional pain syndrome (CRPS) is a painful and disabling disorder that can affect one or more extremities. Unfortunately, the knowledge concerning its natural history and mechanism is very limited and many current rationales in treatment of CRPS are mainly dependent on efficacy originated in other common conditions of neuropathic pain. Therefore, in this study, we present a case using a total spinal block (TSB) for the refractory pain management of a 16-year-old male CRPS patient, who suffered from constant stabbing and squeezing pain, with severe touch allodynia in the left upper extremity following an operation of chondroblastoma. After the TSB, the patient’s continuous and spontaneous pain became mild and the allodynia disappeared and maintained decreased for 1 month.

• Journal of the Korean Data and Information Science Society
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• 제24권4호
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• pp.867-876
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• 2013

대사증후군은 심혈관질환의 발생을 증가시키는 주요 요인으로 알려져 왔다. 특히 만성적인 대사장애로 여러 질병이 한 개인에게서 복합되어 나타나는 대사증후군의 경우 우리나라에서도 유병률이 점차 증가하는 추세이다. 이에 본 연구는 다중인자 차원 축소 방법을 이용하여 대사증후군의 위험도를 확인하고 여러 대사증후군 진단 조합 중에서 가장 위험한 조합을 제시하는 데 목적을 둔다. 자료는 질병관리본부에서 실시한 제 5기 국민건강영양조사 1차년도 (2010년)자료를 이용하여 성인 중에서 분석방법에 적용이 가능한 3,990명을 대상자로 결정하였다. 다중인자 차원 축소 방법을 적용시킨 결과 대사증후군에 가장 위험한 단일 요인은 복부비만이었고, 복부비만을 포함한 대사증후군 진단 조합은 복부비만과 고지혈증, 고혈압이 가장 위험한 것으로 나타났다. 이것은 대사증후군의 새로운 진단 결과이다. 특히, 남성의 경우는 복부비만, 저 HDL-콜레스테롤혈증, 고혈압이 가장 위험한 조합으로 확인되었고 체질량 지수가 $25kg/m^2$이상인 사람에게서는 복부비만, 고지혈증, 고혈당의 조합이 가장 위험한 대사증후군 조합이었다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제4권2호
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• pp.238-242
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• 2001

저자들은 우유 단백질에 대한 FPIES의 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• The Korean Journal of Pain
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• 제31권1호
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• pp.54-57
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• 2018

Burner or stinger syndrome is a rare sports injury caused by direct or indirect trauma during high-speed or contact sports mainly in young athletes. It affects peripheral nerves, plexus trunks or spinal nerve roots, causing paralysis, paresthesia and pain. We report the case of a 57-year-old male athlete suffering from burner syndrome related to a lumbar nerve root. He presented with prolonged pain and partial paralysis of the right leg after a skewed landing during the long jump. He was initially misdiagnosed since the first magnet resonance imaging was normal whereas electromyography showed denervation. The insurance company refused to pay damage claims. Partial recovery was achieved by pain medication and physiotherapy. Burner syndrome is an injury of physically active individuals of any age and may appear in the cervical and lumbar area. MRI may be normal due to the lack of complete nerve transection, but electromyography typically shows pathologic results.