• 대한지리학회지
• /
• 제42권6호
• /
• pp.835-850
• /
• 2007

본 연구에서는 기온 자료를 필터링 기법을 이용하여 특정 임계치 이상이 되는 날짜를 산출한 후 계절 시작일과 계절 지속기간 변화를 분석하였다. 7개 기상 관측지점의 80년간(1921-2000년)의 관측 자료와 A1B 시나리오를 이용한 2040년대와 2090년대의 모델 전망 자료로부터 계절 시작일과 지속기간의 변화를 분석한 결과 봄과 여름의 시작일은 할라지고 가을과 겨울의 시작일은 늦어지는 경향을 보였다. 또한 이러한 경향은 2040년대보다 2090년대의 경우에 더 두드러질 것으로 전망되었다. 봄 시작일과 겨울 시작일의 변화 특성은 위도가 낮을수록 더 현저히 나타나고 여름 시작일은 해안보다는 내륙에서 더 발리 진행되었다. 전 분석 지점에서 지구온난화 및 도시화에 의해 여름 지속기간은 증가하는 추세이고 겨울 지속기간은 감소하는 추세였다. 여름과 겨울 지속기간은 위도가 낮을수록 여름철이 겨울철보다 긴 특성을 보였으며, 여름 시작일이 가장 빨랐던 대구 지점이 가장 긴 여름 지속기간을 보였다. 특히, 1990년대부터 겨울 지속기간이 크게 감소하면서 여름과 겨울 지속기간의 차이는 더 커졌다. 비슷한 위도대의 경우 여름과 겨울 지속기간 차이는 내륙보다 해안지역에서 더 컸다. 특히, 남해안과 동해안에 위치한 강릉, 부산, 목포 지점들은 여름철은 길어지고 겨울철은 짧아지는 경향이었으며, 모델 자료에 근거한 2090년대에는 겨울철이 사라질 것으로 전망되었다.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제23권5호
• /
• pp.411-422
• /
• 2020

With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

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

• Annals of Clinical Neurophysiology
• /
• 제25권2호
• /
• pp.106-109
• /
• 2023

Inclusion body myositis (IBM) is a late-onset myopathy that manifests as distinct muscle weakness in the quadriceps, finger flexors, and ankle dorsiflexors. T-cell large granular lymphocyte (T-LGL) leukemia is a late-onset clonal disorder of CD8+ cytotoxic T-cells that is often accompanied by autoimmune diseases. To date, the association between IBM and T-LGL leukemia has been infrequently reported. Here, we report a case of a patient with T-LGL leukemia who developed IBM, along with in-depth laboratory, electrophysiological, and pathologic findings.

• 한국발생생물학회지:발생과생식
• /
• 제20권2호
• /
• pp.91-99
• /
• 2016

Lipopolysaccharide (LPS), an endotoxin, elicits strong immune responses in mammals. Several lines of evidence demonstrate that LPS challenge profoundly affects female reproductive function. For example, LPS exposure affects steroidogenesis and folliculogenesis, resulting in delayed puberty onset. The present study was conducted to clarify the mechanism underlying the adverse effect of LPS on the delayed puberty in female rats. LPS was daily injected for 5 days ($50{\mu}g/kg$, PND 25-29) to treated animals and the date at VO was evaluated through daily visual examination. At PND 39, animals were sacrificed, and the tissues were immediately removed and weighed. Among the reproductive organs, the weights of the ovaries and oviduct from LPS-treated animals were significantly lower than those of control animals. There were no changes in the weights of uterus and vagina between the LPS-treated and their control animals. immunological challenge by LPS delayed VO. Multiple corpora lutea were found in the control ovaries, indicating ovulations were occurred. However, none of corpus luteum was present in the LPS-treated ovary. The transcription level of steroidogenic acute regulatory protein (StAR), CYP11A1, CYP17A1 and CYP19 were significantly increased by LPS treatment. On the other hand, the levels of $3{\beta}$-HSD, $17{\beta}$-HSD and LH receptor were not changed by LPS challenge. In conclusion, the present study demonstrated that the repeated LPS exposure during the prepubertal period could induce multiple alterations in the steroidogenic machinery in ovary, and in turn, delayed puberty onset. The prepubertal LPS challenge model used in our study is useful to understand the reciprocal regulation of immune (stress) - reproductive function in early life.

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

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제5권1호
• /
• pp.8-11
• /
• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

• Journal of Interdisciplinary Genomics
• /
• 제5권1호
• /
• pp.5-11
• /
• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• 대한기관식도과학회지
• /
• 제13권2호
• /
• pp.45-49
• /
• 2007

Background and Objective : Laryngeal Papillomatosis (LP) is the most common benign neoplasm of the larynx, but it tend to recur and it makes eradicating difficult. Meticulous $CO_2$ laser excision has been the most effective treatment to date. This article analyzes the clinical feature and therapeutic results of 42 LP patients who were undergone $CO_2$ laser excision. Methods : Forty two patients with recurrent LP were treated with $CO_2$ laser. And their medical records were reviewed retrospectively. Demographics, chief complaints at onset, initial distribution of papillomas, number of operations performed on each patient, and current results were evaluated. Results : Male in their twenties and forties are dominant in number in patient number. Most common site was anterior one thirds (69%) of glottis area (86%). LP recurred in 17 cases (40%), and in 4 cases, the lesion extended over the original margin. Patients were undergone surgery $1.62{\pm}0.87$ times, $2.53{\pm}0.72$ in recurred cases. Mean relapsing time was 6 momths (from 1momth to 8years). Ant. laryngeal web occurred in 2 cases (4.8%) and 1 case was combined with squamous cell carcinoma. Conclusion : Meticulously performed $CO_2$ laser excision can achieve significant voice and airway improvement and clinical cures. The $CO_2$ laser through microdirect laryngoscopy allows more precise and bloodless removal of papillomas.

• Pediatric Infection and Vaccine
• /
• 제21권3호
• /
• pp.219-224
• /
• 2014

Streptococcus bovis에 의한 신생아 침습감염을 보고한 사례는 많지 않으며, 지금까지 보고된 증례는 대부분 Streptococcus pasteurianus가 원인이었다. 저자들은 생후 28일에 열이 나서 온 환자의 혈액과 뇌척수액에서 분리된 균주를 16S rRNA와 tuf 유전자 염기서열분석을 통해 Streptococcus lutetiensis로 동정할 수 있었다. 환자의 혈액에서 배양된 균주는 자동화 장비(VITEK 2)에서 Streptococcus infantarius로 동정되었고 뇌척수액에서 자란 균주는 동정되지 않았다. 환자는 항균제 투여 2일째부터 열이 떨어지고 전신상태가 호전되었으며, 14일간 항균제 사용 후 신경학적 합병증 없이 퇴원하였다. 저자들은 S. bovis군에 의한 침습 감염 환자에서 정확한 균주 동정을 위해 분자유전학적 검사기법이 도움이 될 수 있음을 확인하였고 본 증례의 원인 균주가 신생아 침습감염의 원인으로 알려진 사례가 없어 보고하는 바이다.