Recently, surmountable amounts of genes are being cloned without information about them and it has become neccessary to develop new techniques for discovering genes with more informaiion like as chromosomal location and possible functions. We have developed one such a method and applied it to search for genes that may be related with the neural development. The mRNAs were extracted from cerebral cortex of 18 week old human fetus, cDNAs were made by reverse transcription from these mRNAs and Uni-amp cDNAs having Uni-amp adapters at both ends were made for subsequent PCR. To observe the distribution of the Uni-amp cDNAs on the chromosome, fluorescent in situ hybridization was performed with biotin labeled Uni-amp cDNAs. Among the chromosome bands showing strong hybridization with the cDNAs, 7q22 was microdissected from the chromosome hybridized with unlabeled Uni-amp cDNAs and amplified by PCR with Uni-amp primers. These amplified cDNA fragment were subcloned to vectors and the nucleic acid sequences were analysed. As a result, 46 different clones were obtained. They were categorized as 12 clones of well characterized genes, 14 clones showing low homology with known genes, 13 clones of simply registered uncharacterized human cDNAs, 7 clones of unknown genes. In situ hybridization histochemistry of 34 novel genes, except 12 known genes, were performed on developing and adult rat tissue sections to see the tissue specificity and developmental expression of these genes. The expression of several novel genes were restricted to the nervous system. From these results, it may be suggested that our technique is very useful to clone the genes expressed in the developing human braine with confirmed chromosomal location. In addition, this cloning technique can be used to discover the new genes related with neural development in combination with functional screening methods.
Adult ; Animals ; Biotin ; Brain ; Cerebral Cortex ; Clone Cells ; Cloning, Organism ; DNA, Complementary* ; Fetus ; Humans ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; Mass Screening ; Microdissection ; Nervous System ; Organ Specificity ; Polymerase Chain Reaction ; Rats ; Reverse Transcription ; RNA, Messenger

Angiogenesis is essential for tumor growth and metastasis, however, the prognostic value of neovascularization is undetermined. The aim of this study is to evaluate the prognostic significance of microvessel density (MVD) and vascular endothelial growth factor (VEGF) expression in breast carcinomas. An immunohistochemical stains for CD 31 (DAKO) to estimate MVD and VEGF (Santa Cruz) were done on 40 cases of invasive breast carcinoma. MVD was calculated as an average count of vessels per 200 power field in the most vascularized areas. VEGF expression was interpreted according to staining intensity and number of positive cells. Mean MVD was 35, and MVD was not correlated with lymph node metastasis or histologic grade, but high MVD (mean MVD>35) showed an increasing tendency in cases with larger size, negative ER/PR, and positive cathepsin D. All of the cases showed VEGF expression, but VEGF expression was not correlated with tumor size, histologic grade, lymph node metastasis, ER/PR status, and cathepsin D expression. These results suggest that MVD and VEGF expressions are not reliable prognostic factors.
Breast Neoplasms* ; Breast* ; Cathepsin D ; Coloring Agents ; Lymph Nodes ; Microvessels* ; Neoplasm Metastasis ; Vascular Endothelial Growth Factor A*

Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by cafe-au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant tumors of the nervous system. One of the most common tumors is the optic nerve glioma. NF1-associated glioma, however, rarely occurs in the cerebellum. Recently, we experienced a NF1-associated cerebellar pilocytic astrocytoma in an 11 years old girl. She has a family history of NF1 and multiple cafe-au-lait spots over her whole body. We report herewith a case of NF1-associated cerebellar pilocytic astrocytoma with a brief review of related literature.
Astrocytoma* ; Cafe-au-Lait Spots ; Cerebellum ; Child ; Female ; Glioma ; Humans ; Nervous System Neoplasms ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Optic Nerve Glioma

PURPOSE: To report clinical aspects of children diagnosed with refractive accommodative esotropia after wearing their first glasses to correct hyperopia accompanied with esodeviation. METHODS: The present study included 75 children followed up for at least 24 months. Age, spherical equivalent of refractive error, angle of deviation and presence of amblyopia were analyzed according to the duration between first wearing glasses and control of esotropia within 8 PD (< or =2 months vs. >2 months). RESULTS: The mean age was 4.48 +/- 2.08 years and mean follow-up was 50.17 months. Initial deviation angle without glasses was 25.43 +/- 10.07 PD at far, 27.72 +/- 11.45 PD at near, spherical equivalent was +4.86 +/- 2.41 D in right eyes, +5.05 +/- 1.06 D in left eyes and 8 of 75 patients (10.67%) had < or =2 D of hyperopia. Esotropia was controlled within 8 PD with hyperopic glasses in 61 of 75 children (81.3%) within 2 months, 6 (8%) within 3-6 months, 4 (5.3%) within 6-12 months and 4 (5.3%) after 12 months. In comparison, esotropia was controlled < or =2 months in 61 of 75 children (81.3%); 14 of 75 children (18.7%) requiring >2 months had less hyperopia (+4.02 D vs. 5.17 D), more severe esodeviation both at far (30.79 +/- 10.79 PD vs. 24.17 +/- 9.56 PD, p = 0.03) and at near distance (34.00 +/- 14.20 PD vs. 26.25 +/- 10.31 PD, p = 0.02) and higher initial amblyopia prevalence rates (71.5% vs. 47.5%). CONCLUSIONS: Several patients needed longer follow-up until esotropia was controlled within 8 PD after wearing hyperopic glasses considering the amount of hyperopia and angle of esodeviation.
Amblyopia ; Child ; Esotropia* ; Eyeglasses* ; Follow-Up Studies ; Glass* ; Humans ; Hyperopia ; Prevalence ; Refractive Errors

Purpose: The purpose of this study was to estimate the medical expenditures for poisoning patients in Korea using data from National Health Insurance and the Korea Health Panel Survey. Methods: The operational definition of poisoning was the presence of Korean Standard Classification of Diseases codes from T36 to T65. The number of poisoning patients, the amount of legal copayments, and benefit and non-benefit costs were extracted from both databases. The frequency of emergency, inpatient, and outpatient treatment utilization by poisoning patients was determined, and medical expenses were calculated. Linear regression analyses were performed to investigate factors affecting the medical expenses of poisoning patients. Results: The number of poisoning patients increased from 97,965 in 2011 to 147,984 persons in 2020. Medical expenses also increased by 74% from Korean won (KRW) 30.1 billion to KRW 52.3 billion, and benefit costs also increased by 79%. The average outpatient cost per person was KRW 67,660, and the inpatient cost was KRW 1,485,103. The average non-benefit medical expenses were KRW 80,298, accounting for about 16.2% of the total expenses. Multivariable analysis showed that the total expenditure was associated with economic status and disabilities. Conclusion The average medical expenditure per poisoning patient was KRW 534,302 in 2020, and poisoning-related costs gradually increased during the study period. Further research on the economic burden of poisoning should include indirect costs and reflect disease-adjusted life years.

Objective: The number of patients suffering from dysphagia is increasing in line with societal aging. However, preparing dysphagia diets at home or in welfare facilities is challenging due to the lack of commercially specifically designed products. The thickening agents used to prepare dysphagia meals can be difficult due to changes in viscosity and homogenization. Therefore, this study was performed to prepare dysphagia meals using commercially available foods following the classification system outlined by the International Dysphagia Diet Standardization Initiative (IDDSI). Methods: Commercial foods were categorized as main dishes, side dishes, and snacks. Selected foods were ground or minced, and 1-3 g of thickening agent was added. Following the IDDSI framework, fork flowability, spoon tilt, and gravity flow tests were conducted using a syringe, and based on these evaluations, texture-modified foods were classified as general, minced, ground, or liquid foods. Results: Commercial foods used in the experiment could be used in IDDSI Level 2-7 dysphagia diets after adjusting their structures. Food size and viscosities were appropriately controlled, and an usage manual was developed. Conclusion This study successfully demonstrated the easy incorporation of commercial food products into the dysphagia diets for personal care and welfare facilities. By adopting the described approach, dysphagia patients could be provided various meal options with improved service. In addition, this study suggests possibilities for developing and producing diverse products designed specifically for dysphagia patients.

Neuroleptic malignant syndrome (NMS) is a rare but potentially lethal outcome caused by sudden discontinuation or dose reduction of dopaminergic agents. We report an extremely rare case of NMS after deep brain stimulation (DBS) surgery in a cerebral palsy (CP) patient without the withdrawal of dopaminergic agents. A 19-year-old girl with CP was admitted for DBS due to medically refractory dystonia and rigidity. Dopaminergic agents were not stopped preoperatively. DBS was performed uneventfully under monitored anesthesia. Dopaminergic medication was continued during the postoperative period. She manifested spasticity and muscle rigidity, and was high fever resistant to anti-pyretic drugs at 2 h postoperative. At postoperative 20 h, she suffered cardiac arrest and expired, despite vigorous cardiopulmonary resuscitation. NMS should be considered for hyperthermia and severe spasticity in CP patients after DBS surgery, irrespective of continued dopaminergic medication.
Anesthesia ; Cardiopulmonary Resuscitation ; Cerebral Palsy* ; Deep Brain Stimulation* ; Dopamine Agents ; Dystonia ; Female ; Fever ; Globus Pallidus* ; Heart Arrest ; Humans ; Muscle Rigidity ; Muscle Spasticity ; Neuroleptic Malignant Syndrome ; Postoperative Period ; Young Adult

Background: The vegetative state (VS) after severe acute brain injury (SABI) is associated with significant prognostic uncertainty and poor long-term functional outcomes. However, it is generally distinguished from imminent death and is exempt from the Life-Sustaining Treatment (LST) Decisions Act in Korea. Here, we aimed to examine the perspectives of the general population (GP) and clinicians regarding decisions on mechanical ventilator withdrawal in patients in a VS after SABI. Methods: A cross-sectional survey was undertaken, utilizing a self-reported online questionnaire based on a case vignette. Nationally selected by quota sampling, the GP comprised 500 individuals aged 20 to 69 years. There were 200 doctors from a tertiary university hospital in the clinician sample. Participants were asked what they thought about mechanical ventilator withdrawal in patients in VS 2 months and 3 years after SABI. Results: Two months after SABI in the case, 79% of the GP and 83.5% of clinicians had positive attitudes toward mechanical ventilator withdrawal. In the GP, attitudes were associated with spirituality, household income, religion, the number of household members.On the other hand, clinicians’ attitudes were related to their experience of completing advance directives (AD) and making decisions about LST. In this case, 3 years after SABI, 92% of the GP and 94% of clinicians were more accepting of ventilator withdrawal compared to previous responses, based on the assumption that the patient had written AD. However, it appeared that the proportion of positive responses to ventilator withdrawal decreased when the patients had only verbal expressions (82% of the GP; 75.5% of clinicians) or had not previously expressed an opinion regarding LST (58% of the GP; 39.5% of clinicians). Conclusion More than three quarters of both the GP and clinicians had positive opinions regarding ventilator withdrawal in patients in a VS after SABI, which was reinforced with time and the presence of AD. Legislative adjustments are needed to ensure that previous wishes for those patients are more respected and reflected in treatment decisions.

Objective: Korea’s transition into a super-aged society brings to the forefront the escalating dementia prevalence and the consequent rise in mortality, highlighting the need for effective end-of-life (EOL) care strategies. Despite legislative advancements, gaps remain in addressing the medical and ethical challenges of EOL care for patients with advanced dementia, particularly in evaluating treatment options like nasogastric tube (NGT) use and mechanical ventilation (MV). This study investigates the attitudes of the general population (GP) and clinicians in Korea towards EOL treatment decisions. Methods: A cross-sectional, web-based survey was conducted among 500 members of the GP and 200 clinicians from a university hospital. Case vignettes were used to assess attitudes towards EOL treatment decisions, specifically focusing on NGT and MV use, and to explore the influencing factors. Results: There was a notable difference in favorable attitudes toward NGT withdrawal between the GP (62.2%) and clinicians (39.0%). Otherwise, both groups showed higher acceptance of MV withholding (82.2% [GPs] and 82.5% [clinicians]) when informed of the patient’s verbal intention regarding life-sustaining treatment (LST), and attitudes were more positive with written advance directives. Also, it was decreased when patient intentions were unclear. Conclusion The results suggested the need to consider NGT as a medical intervention requiring a risk-benefit analysis. Although LST decision-making in patients with advanced dementia is still limited in Korea, this study showed the shared recognition among the GP and clinicians of the importance of EOL treatment decisions that consider patient wishes and quality of life for patients with advanced dementia.