• Journal of Yeungnam Medical Science
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• 제27권1호
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• pp.47-51
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• 2010

We present here the case of a 13-year-old male patient with Alexander's disease who underwent surgical correction of a femur fracture. Alexander's disease is a rare and fatal disorder that affects the white matter in the brain and it causes developmental delay, psychomotor regression, spasticity, megaloencephaly and seizure. The patient had the possibility of a seizure attack during the perioperative period. We discuss the anesthetic management of a patient with Alexander's disease and we review the relevant literature.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.113-116
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• 2013

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.

• Genomics & Informatics
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• 제19권3호
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• pp.28.1-28.4
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• 2021

Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients uncommonly presenting with rare diseases. It can also be difficult for the patient, their families, and even clinicians to know which one of a number of disease phenotypes the patient is exhibiting. To address this issue, during Biomedical Linked Annotation Hackathon 7 (BLAH7), we tried to extract Alexander disease patient data in Portable Document Format. We then visualized the phenotypic diversity of those Alexander disease patients with uncommon presentations. This led to us identifying several issues that we need to overcome in our future work.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.88-93
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• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• 대한수의학회지
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• 제59권1호
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• pp.37-42
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• 2019

Worldwide, avian influenza H9N2 viruses of different lineages are the most widespread viruses in poultry. However, to date, cases in Russia have not been documented. In this study, we report the first detection of a G1-like H9N2 virus from poultry sampled at live-bird markets in Russia (Far East region) during the winter of 2018 (isolate A/chicken/Amur_Russia/17/2018). We assume there has been further circulation of the A/chicken/Amur_Russia/17/2018 H9N2 virus in the Russian Far East with possible distribution to other regions or countries in 2018-2019.

• 대한영상의학회지
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• 제84권3호
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• pp.736-744
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• 2023

성인형 알렉산더병은 운동 실조, 경련성 마비 또는 뇌간 징후를 나타내는 드문 유전 질환이다. 성인형 알렉산더병의 진단은 흔히 자기공명영상 검사 소견을 통해 내려진다. 이에 저자들은 glial fibrillary acidic protein (이하 GFAP) 유전자 변이 분석을 통해 확진된 37세와 61세 성인형 알렉산더병 환자의 특징적인 자기공명영상 소견과 추적 검사상 변화 사례에 대해 보고하고자 한다. 자기공명영상에서 환자들은 전형적인 뇌간 위축과 백질 이상 소견을 보였다. 특징적인 자기공명영상을 바탕으로 추정진단을 내렸으며 이후 GFAP 유전자 변이 분석을 통해 확진되었다. 또한, 추적 관찰 검사에서 연수와 상부 경부 척수 위축의 진행을 보였다. 이러한 성인형 알렉산더병의 특징적인 자기공명영상 소견에 대한 이해를 바탕으로, 감별진단을 위한 GFAP 유전자 검사 시행 결정에 도움이 될 수 있을 것이다.

• Korean Journal of Radiology
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• 제24권8호
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• pp.795-806
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• 2023

Occupational lung diseases (OLD) are a group of preventable conditions caused by noxious inhalation exposure in the workplace. Workers in various industries are at a higher risk of developing OLD. Despite regulations contributing to a decreased incidence, OLD remain among the most frequently diagnosed work-related conditions, contributing to significant morbidity and mortality. A multidisciplinary discussion (MDD) is necessary for a timely diagnosis. Imaging, particularly computed tomography, plays a central role in diagnosing OLD and excluding other inhalational lung diseases. OLD can be broadly classified into fibrotic and non-fibrotic forms. Imaging reflects variable degrees of inflammation and fibrosis involving the airways, parenchyma, and pleura. Common manifestations include classical pneumoconioses, chronic granulomatous diseases (CGD), and small and large airway diseases. Imaging is influenced by the type of inciting exposure. The findings of airway disease may be subtle or solely uncovered upon expiration. High-resolution chest CT, including expiratory-phase imaging, should be performed in all patients with suspected OLD. Radiologists should familiarize themselves with these imaging features to improve diagnostic accuracy.

• 대한예방의학회:학술대회논문집
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• 대한예방의학회 1994년도 교수 연수회(환경)
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• pp.651-657
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• 1994

To assess quantitatively the association between benzene exposure and leukemia, we examined the mortality rate of a cohort with occupational exposure to benzene. Cumulative exposure for each cohort member was estimated from historical air-sampling data and, when no sampling data existed, from interpolation on the basis of existing data. The overall standardized mortality ratio (a measure of relative risk multiplied by 100) for leukemia was 337 (95 percent confidence interval, 154 to 641), and that for multiple myeloma was 409 (95 percent confidence interval, 110 to 1047). With stratification according to levels of cumulative exposure, the standardized mortality ratios for leukemia increased from 109 to 322, 1186, and 6637 with increases in cumulative benzene exposure from less than 40 parts per million-years (ppm-years), to 40 to 199, 200 to 399, and 400 or more. respectively. A cumulative benzene exposure of 400 ppm years is equivalent to a mean annual exposure of 10 ppm over a 40-year working lifetime; 10 ppm is the currently enforceable standard in the United States for occupational exposure to benzene. To examine the shape of the exposure-response relation, we performed a conditional logistic-regression analysis, in which 10 controls were matched to each cohort member with leukemia. From this model, it can be calculated that protection from benzene induced leukemia would increase exponentially with any reduction in the permissible exposure limit.

• Molecules and Cells
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• 제37권6호
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• pp.441-448
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• 2014

Inflammasomes are specialized signaling platforms critical for the regulation of innate immune and inflammatory responses. Various NLR family members (i.e., NLRP1, NLRP3, and IPAF) as well as the PYHIN family member AIM2 can form inflammasome complexes. These multiprotein complexes activate inflammatory caspases (i.e., caspase-1) which in turn catalyze the maturation of select pro-inflammatory cytokines, including interleukin (IL)-$1{\beta}$ and IL-18. Activation of the NLRP3 inflammasome typically requires two initiating signals. Toll-like receptor (TLR) and NOD-like receptor (NLR) agonists activate the transcription of pro-inflammatory cytokine genes through an NF-${\kappa}B$-dependent priming signal. Following exposure to extracellular ATP, stimulation of the P2X purinoreceptor-7 ($P2X_7R$), which results in $K^+$ efflux, is required as a second signal for NLRP3 inflammasome formation. Alternative models for NLRP3 activation involve lysosomal destabilization and phagocytic NADPH oxidase and /or mitochondria-dependent reactive oxygen species (ROS) production. In this review we examine regulatory mechanisms that activate the NLRP3 inflammasome pathway. Furthermore, we discuss the potential roles of NLRP3 in metabolic and cognitive diseases, including obesity, type 2 diabetes mellitus, Alzheimer's disease, and major depressive disorder. Novel therapeutics involving inflammasome activation may result in possible clinical applications in the near future.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5677-5679
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• 2012

Background and Aim: Gastric cancer is the second most common cancer worldwide. In this study the clinical and histological features of gastric cancer in the cardia and distal stomach were evaluated. Method: Proximal and distal gastric cancer diagnosed and treated in eight provinces of Iran from 2010-2011 were reviewed in all collected cases. The age standardized incident rates were calculated and tumor location and histological type were recorded. Results: The age-standardized incidence rate for the eight centers was 40.6 per 100,000 populations per year with an upper and lower range of 22.1 and 102.4 per 100,000 population per year. Thirty four percent of the tumors were located in the cardia, 3% in fundus, and 63% in the distal stomach. In 7 provinces the prevalence of distal tumors was significantly greater than proximal tumors (p=0.006). A significant relationship was observed between diffuse form of gastric cancer and distal gastric tumors (p=0.007) and between poor tumor differentiation and distal gastric tumors (p<0.001). Conclusions: the result of this study shows that distal gastric cancer is more common than proximal gastric cancer in Iran.