• 대한치과마취과학회지
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• 제11권1호
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• pp.51-54
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• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• Journal of Interdisciplinary Genomics
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• 제1권1호
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• pp.10-13
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• 2019

A 10-year and 5 month-old girl with developmental delay, intellectual disability, attention deficit hyperactivity disorder, poor weight gain, and microcephaly was transferred to our pediatric clinic for genetic evaluation. Her height was within the 5-10th percentile, and her weight was under the 3rd percentile. On the social maturity scale, her developmental status was scored as 3 years 9 months for social age, and the social quotient was 35.98. A chromosomal microarray analysis was performed and the microduplication at chromosome 16p was observed: arr[GRCh37] 16p11.2 (29580020_30190029)${\times}3$. Currently, the patient is diagnosed with Grade 2 intellectual disability and is attending a computerized cognitive rehabilitation class twice weekly. In addition, nutritional support and growth follow up are also ensured in the Pediatric Gastrointestinal and Endocrinology clinic.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

• Molecules and Cells
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• 제44권5호
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• pp.292-300
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• 2021

Macrophages residing in various tissue types are unique in terms of their anatomical locations, ontogenies, developmental pathways, gene expression patterns, and immunological functions. Alveolar macrophages (AMs) reside in the alveolar lumen of the lungs and serve as the first line of defense for the respiratory tract. The immunological functions of AMs are implicated in the pathogenesis of various pulmonary diseases such as allergic asthma, chronic obstructive pulmonary disorder (COPD), pulmonary alveolar proteinosis (PAP), viral infection, and bacterial infection. Thus, the molecular mechanisms driving the development and function of AMs have been extensively investigated. In this review article, we discuss the roles of granulocyte-macrophage colony-stimulating factor (GM-CSF) and transforming growth factor (TGF)-β in AM development, and provide an overview of the anti-inflammatory and pro-inflammatory functions of AMs in various contexts. Notably, we examine the relationships between the metabolic status of AMs and their development processes and functions. We hope that this review will provide new information and insight into AM development and function.

• 한국임상약학회지
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• 제32권4호
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• pp.336-351
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• 2022

Background: Prader-Willi Syndrome (PWS) is a rare genetic disorder. To improve the health deterioration of PWS, investigating optimal treatment options for PWS is required. Thus, we aimed to evaluate the efficacy of pharmacotherapies compared with supportive care or placebos in patients with PWS. Methods: PubMed and EMBASE databases were used to search for randomized controlled trials (RCTs) evaluating the efficacy of pharmacotherapy in PWS patients. Only RCTs that evaluating the efficacy of pharmacotherapy in PWS patients were retrieved. Results: A total of 26 studies were included to evaluate body composition, hormones, glucose levels and hyperphagia behavioral status. Pharmacological treatment group showed a significant decrease of body fat (mean difference (MD): -6.32, 95% confidence interval (CI): -10.58 to -2.06, p=0.004), a significant increase of lean body mass (LBM) (MD: 1.86, 95% CI: 1.43 to 2.30, p<0.00001) and insulin-like growth factor 1 (IGF-1) levels (MD: 241.62, 95% CI: 68.59 to 414.64, p=0.006) compared with the control group. Nevertheless, based on other outcomes evaluated by the current systematic review, pharmacological options showed different efficacy in treating PWS. Conclusion: Pharmacological therapies were effective to decrease significantly in body fat and increase significantly on LBM and IGF-1 levels in patients with PWS. However, still, individualized therapies should be considered in real-world practice in PWS treatment.

• 한국의사학회지
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• 제34권1호
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• pp.59-74
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• 2021

Li Gao left a great mark in the history of Chinese medicine by founding Piwei (脾胃) theory. When explaining Li Gao's medical ideology, researchers explain that his medical ideology was created by curing hunger during wartime and treating diseases of people who suffered from battle field trauma. However, Li Gao also suffered from battlefield trauma for his experience of the Mongol siege of Kaifeng (開封城) from 1232 to 1233. It is the hypothesis of this study that Li Gao himself would have suffered posttraumatic stress disorder (PTSD), and this study reexamines the process more closely from the viewpoint of PTSD and posttraumatic growth (PTG). The conclusion of this study is that his achievement in medical history is a result of his PTG. Li Gao's narrative of Piwei (脾胃) theory contains elements that seek revenge against the Mongol soldiers, and Li Gao achieved extraordinary PTG by overcoming the trauma of the siege of Kaifeng step by step.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제4권1호
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• pp.63-70
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• 2001

목 적: 본 연구는 생체 부분 간이식이 환아의 성장에 미치는 영향에 대하여 분석하고자 하였다. 방 법: 1994년 10월부터 1999년 2월까지 서울중앙병원에서 시행된 생체 부분 간이식을 받은 환아 중 생존율이 1년 이상인 환아 36명을 대상으로 하였다. 이식 전후 외래에서 추적 관찰하며 계측한 신장 기록을 후향적으로 조사하여 이식 후 개월에 따른 평균 zH를 비교하였다. 또한 이식 연령이 6세 이하로 사춘기 급성장의 영향이 배제된 소아에서의 이식 후 성장 변화와 원인 질환, 이식 전 성장 지연, 간이식편의 기능, 면역 억제제의 종류에 따른 이식 후 성장 변화에 대해 분석하였다. 결 과: 전체 환아의 평균 zH는 이식 전 -1.58에서 이식 후 24개월째 0.33으로 현저하게 지속적인 성장이 이루어짐을 보였다(p<0.05). 사춘기 성장의 급증에 의한 신장을 배제하기 위해 이식 당시 나이가 6세 이하였던 환아들에서 비교한 평균 zH도 이식 후 신장의 성장을 보였다(p<0.05). 만성질환이 있는 경우 이식 전에 비해 이식 후 성장이 향상되었고 전격성 간염의 경우 이식 후에도 지속적인 성장이 유지되었다. 이식 전 성장 지연이 있었던 환아의 경우(평균 zH=-2.70) 이식 후에 따라잡기 성장이 이루어졌고 정상적인 성장을 보였던 경우 이식 후에도 성장이 지속적으로 유지되었다. 만성 이식 거부반응이나 PTLD 같은 이식편의 간기능 장애가 동반된 경우에는 이식 후 성장의 지연을 보였다. 면역 억제제의 종류에 따른 성장의 변화에는 통계학적으로 유의한 차이는 보이지 않았다. 결 론: 생체 부분 간이식은 성공적인 간이식을 통해 장기 생존률의 증가 뿐만 아니라 술 후 정상적인 환아의 성장을 기대해 볼 수 있다.

• 수면정신생리
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• 제3권1호
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• pp.85-95
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• 1996

Obstructive sleep apnea syndrome(OSAS) in childhood is unique and different n-om that in adulthood in several aspects, including pathophysiology, clinical features, diagnostic criteria, complications, management, and prognosis. Characteristic features of childhood OSAS in comparison with the adult form are the variety of severe complications such as developmental delay, more prominent behavioral and cognitive impairments, vivid cardiovascular symptoms, and increased death risk, warranting a special attention to the possible diagnosis of OSAS in children who snore. However, the childhood OSAS is often neglected and unrecognized. We, therefore, report a case of very severe OSAS in a 5-year-old boy who was sucessfully treated with continuous positive airway pressure(CPAP) treatment. Interestingly, the patient was comor-bid with the attention deficit hyperactivity disorder. Prior to the initial visit to us, adenotonsillectomy had been done at the age of 4 with no significant improvement of apneic symptoms and heavy snoring. On the initial diagnostic procedures, marked degree of snoring was audible even in the daytime wake state and the patient was observed to be very hyperactive. Increased pulmonary vascularity with borderline cardiomegaly was noted on chest X-ray. The baseline polysomnography revealed that the patient was very sleep-apneic and snored very heavily, with the respiratory disturbance index(RDI) of 46.9 per hour of sleep, the mean SaO2 of 78.8%, and the lowest SaO2 of 40.0%(the lowest detectable oxygen level by the applied oxymeter). The second night polysomnography was done for CPAP titration and the optimal pressure turned out to be $8.0\;cmH_2O$. The applied CPAP treatment was well tolerated by the patient and was found to be very effective in alleviating heavy snoring and severe repetitive sleep apneas. After 18 months of the CPAP treatment, the patient was followed up with nocturnal polysomnography(baseline and CPAP nights) and clinical examination. Sleep apneas were still present without CPAP on the baseline night. However, the severity of OSAS was significantly decreased(RDI of 15.7, mean SaO2 of 96.2%, and the lowest SaO2 of 83.0%), compared to the initial polysomnographic findings before initiation of long-term CPAP treatment. Wechsler intelligence tests done before and after the CPAP treatment were compared with each other and surprising improvement of intelligence(total 9 points, performance 16 points) was noted. Clinically he was found to be markedly improved in his attention deficit hyperactive behavior after CPAP treatment, but with minimal change of TOVA(test of variables of attention) scores except conversion of reaction time score into normal range. On the chest X-ray taken after 18 months of CPAP application, the initial cardiopulmonary abnormalities were not found at all. We found that the CPAP treatment in a young child is very effective, safe, and well-tolerated and also improves the co-morbid attention deficit hyperactive symptoms. Overall, the growth and development of the child has been facilitated with the long-term use of CPAP. Cardiovascular complications induced by OSAS have been also normalized with CPAP treatment. We suggest that early diagnosis and active treatment intervention of OSAS in children are crucial in preventing and ameliorating possible serious complications caused by repetitive sleep apneas and consequent hypoxic damage during sleep.

• 원예과학기술지
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• 제30권2호
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• pp.144-151
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• 2012

미량원소인 붕소(B)의 시비농도를 인위적으로 조절한 관비용액으로 '금향', '매향' 및 '설향' 딸기를 재배하면서 시비수준이 생육에 미치는 영향, 생육을 우수하게 유지할 수 있는 식물체의 한계농도, 그리고 B 과잉시비로 유발되는 생리장해의 특징을 구명하기 위하여 본 연구를 수행하였다. 0.25mM B 시비구에서 세 종류 딸기 품종의 생체중 및 건물 중이 가장 무거웠고 관부직경도 가장 굵었지만 B 시비농도가 높아짐에 지상부 생장량이 급격하게 감소하였다. B가 과다하게 시비되면 신생엽에서는 황화현상, 중간에 위치한 잎들에서는 잎 가장자리의 갈변 및 괴사현상, 그리고 하위엽들이 괴사하면서 안쪽으로 말리는 증상이 나타났다. 하위엽에서 나타나는 증상은 '금향'의 경우 2mM 이상의 처리구, '매향'과 '설향'은 0.5mM 이상의 시비구에서 잎 선단부의 갈변 및 괴사, 그리고 잎 내부에 갈변 및 괴사현상이 나타났다. B 시비농도가 증가하여도 다량원소중 양이온인 K, Ca 및 Mg 함량에는 차이가 나타나지 않았으며, 음이온인 인산 함량이 감소하는 경향을 나타냈다. B 시비농도가 증가할 때 '금향'과 '설향' 딸기에서 Fe 함량이 감소하였으며, Zn 함량이 증가하는 경향을 보였다. 건물중에 기초한 지상부 생장량의 90%와 이 때의 B 함량을 정상생육을 위한 최대한계점으로 간주할 때 '금향', '매향' 및 '설향' 딸기에서 식물체내 B 함량이 각각 25.1, 44.2 및 $62.5mg{\cdot}kg^{-1}$ 이하를 유지하도록 B 시비농도를 조절하여야 과잉피해를 방지할 수 있다고 판단하였다.

• 한국약용작물학회지
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• 제23권3호
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• pp.198-206
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• 2015

This study was conducted to investigate the effects of sowing density, number of seeds sown per hole, and thinning treatment on growth characteristics and disease occurrence in Panax ginseng under direct sowing cultivation in a blue plastic greenhouse. Seedling were grown from 2 or 3 seeds sown, and the healthiest was only retained, while the rest were thinned out at the foliation stage. $NO_3$-N, $P_2O_5$, and organic matter content differed significantly between growth conditions in the plastic greenhouse and in conventional shade in the soil. Disease also tended to be higher in the conventional shade than in the plastic greenhouse. Plant height and stem length showed an increasing trend with increasing sowing density and number of seeds sown per hole. However, these measures noticeably decreased when thinning treatment was conducted. Growth of the subterranean part of ginseng was not markedly influenced by sowing density, the number of seeds sown per hole, or thinning treatment. Root weight, which is an important factor in yield, was significantly affected by the number of seeds sown and thinning treatment. Interestingly, root weight tended to be higher in the thinning treatment plot than the untreated control plot. Damping-off and root rot increased noticeably as the number of seeds sown increased. Disease also tended to be substantially higher in the thinning treatment plot than the untreated control. However, physiological disorder of the plants did not vary with sowing density, the number of seeds sown, or thinning treatment.