• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권1호
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• pp.1-11
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• 2016

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.

• Neonatal Medicine
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• 제28권1호
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• pp.1-6
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• 2021

Persistent pulmonary hypertension of the newborn (PPHN) is a consequence of the failure of a decrease in the elevated pulmonary vascular resistance after birth. Pulmonary vasodilators, including inhaled nitric oxide (iNO), have been the mainstream of targeted therapy for PPHN, but no drugs have been proven to be effective in preterm infants with PPHN. The fetus remains hemodynamically stable despite lower arterial oxygen tension and pulmonary blood flow as compared to full-term newborns. This adaptation is due to the lower oxygen requirement and high oxygen-carrying capacity of fetal circulation. The immature lungs of preterm infants are more vulnerable to reactive oxygen species, and the response of pulmonary vascular dilatation to blood oxygen tension is blunted in preterm infants. Recently, iNO has been reported to be effective in a selected group of preterm infants, such as those with prolonged preterm rupture of membrane-oligohydramnios-pulmonary hypoplasia sequence. PPHN in preterm infants, along with maximum supportive treatment based on fetal physiology and meticulous assessment of cardiovascular function, is in dire need of new treatment guidelines, including optimal dosing strategies for pulmonary vasodilators.

• ETRI Journal
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• 제41권4호
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• pp.515-527
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• 2019

This paper discusses the design, implementation, and potential use of an ontology-based mobile pediatric consultation and monitoring system, which is a smart healthcare expert system for pediatric patients. The proposed system provides remote consultation and monitoring of pediatric patients during their illness at places distant from medical service areas. The system not only shares instant medical data with a pediatrician but also examines the data as a smart medical assistant to detect any emergency situation. In addition, it uses an inference engine to infer instant suggestions for performing certain initial medical treatment steps when necessary. The applied methodologies and main technical contributions have three aspects: (a) pediatric consultation and monitoring ontology, (b) semantic Web rule knowledge base, and (c) inference engine. Two case studies with real pediatric patients are provided and discussed. The reported results of the applied case studies are promising, and they demonstrate the applicability, effectiveness, and efficiency of the proposed approach.

• International Journal of Advanced Culture Technology
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• 제7권2호
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• pp.19-27
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• 2019

The purpose of this study was to assess mental health and quality of life (QOL) including factors influencing QOL among early North Korean defectors in South Korea. Participants were 151 early North Korean defectors residing in a settlement support center. All measures were self-administered. Unlike refugees living in communities, early defectors did not experience a high rate of mental health problems and reported a good QOL. Psychoticism was the most predictive factor affecting QOL. Findings from this study suggest the importance of mental health assessment and support over time. Psychoticism, significant in explaining QOL of early North Korean defectors, needs early diagnosis and treatment to prevent progression. Mental health issues among refugees may not be evident while they are in a structured, supportive environment. Evaluation and treatment are needed over time.

• 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.

• Journal of Chest Surgery
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• 제23권1호
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• pp.115-121
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• 1990

We have experienced twenty-eight patients of esophageal perforation at the department of thoracic and cardiovascular surgery, Seoul National University Hospital during the period from Jan. 1957 to Jun. 1989. The ratio between male and female patients was 17:11, and their age ranged from 2 years to 61 years old. [average: 30.4 years old] The cause of esophageal perforation were instrumental trauma in 9 cases, caustic perforation in 6 cases, spontaneous perforation in 6 cases, surgical trauma in 2 cases, and others in 5 cases. The most frequent location of perforation was in the lower third portion of the esophagus [13 case, 46 %]. Patients complained of chest pain [86 %], dyspnea [57 %], fever [57 %], subcutaneous emphysema [43 %], and others. The frequent complications of esophageal perforation were empyema [13 cases, 46 %] and mediastinitis [11 cases, 39 %]. The first treatment was supportive care in 3 cases, primary closure and reinforced procedures in 13 cases with 3 deaths, open drainage in 5 cases with 2 deaths, diversion in 4 cases with 2 deaths and closed thoracostomy drainage in 3 cases. After the first treatment, 6 patients received multi-staged operations for several months. Overall mortality was 25 %, and the most frequent cause of death was sepsis[57 %]. We thought that factors affecting the outcome of esophageal perforation are;[1] early diagnosis and adequacy in the first treatment, [2] intensive perioperative management including multi-stage surgical approach, [3] patient`s condition at the diagnosis

• Asian Pacific Journal of Cancer Prevention
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• 제16권15호
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• pp.6207-6213
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• 2015

The supportive care of patients receiving antineoplastic treatment has dramatically improved over the past few years and development of effective measures to prevent nausea and vomiting after chemotherapy serves as one of the most important examples of this progress. A patient who starts cancer treatment with chemotherapy lists chemotherapy-induced nausea and vomiting as among their greatest fears. Inadequately controlled emesis impairs functional activity and quality of life, increases the use of health care resources, and may occasionally compromise adherence to treatment. New insights into the pathophysiology of chemotherapy-induced nausea and vomiting, a better understanding of the risk factors for these effects, and the availability of new antiemetic agents have all contributed to substantial improvements in emetic control. This review focuses on current understanding of chemotherapy-induced nausea and vomiting and the status of pharmacological interventions for their prevention and treatment.

• The Korean Journal of Pain
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• 제26권2호
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• pp.154-159
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• 2013

Femoroacetabular Impingement (FAI) arises from morphological abnormalities between the proximal femur and acetabulum. Impingement caused by these morphologic abnormalities induces early degenerative changes in the hip joint. Furthermore, FAI patients complain of severe pain and limited range of motion in the hip, but a guideline for treatment of FAI has not yet been established. Medication, supportive physical treatment and surgical procedures have been used in the treatment of the FAI patients; however, the efficacies of these treatments have been limited. Here, we report the diagnosis and treatment for 3 cases of FAI patients. Intra-articular (IA) steroid injection of the hip joint was performed in all three patients. After IA injection, pain was reduced and function had improved for up to three months.

• 대한한방부인과학회지
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• 제31권4호
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• pp.165-178
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• 2018

목 적: 한의사의 유방암 보완치료에 대한 실태를 조사하고 임상진료지침의 필요성을 알아보고자 본 연구를 시행하였습니다. 방 법: 본 연구는 e mail 설문지를 사용하였으며 유방암 환자 치료 여부, 내원환자들의 병기, 증상, 진단, 치료, 기타 의견 등을 설문하였습니다. 결 과: 322명이 응답하였으며 그 중 84명이 해당 기관에서 유방암 치료를 시행하고 있었습니다. 내원 환자들의 주된 호소는 피로 및 전신 소력감이었고 변증 및 맥진을 주된 진단법으로 한약 및 침뜸을 중심으로 치료하고 있다고 응답하였습니다. 유방암의 한의학적 보완치료로서 임상진료지침이 필요하다고 생각하며 개발된다면 적극적으로 사용하겠다고 응답하였습니다. 결 론: 유방암 보완치료 실태조사를 통해 임상진료지침에 대한 필요성을 알 수 있었으며 추가적인 연구가 필요합니다.