No abstract available.
Alexander Disease*

No abstract available.
Drainage* ; Prognosis*

A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEq/L, K 5.6 mEq/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; C-Peptide ; Chromosomes, Human, Pair 6 ; Clitoris ; Cranial Fontanelles ; Diabetes Mellitus* ; DNA ; Female ; Fetal Distress ; Genetic Markers ; Glycosuria ; Humans ; Hydrocortisone ; Hyperglycemia ; Infant ; Insulin ; Magnetic Resonance Imaging ; Parturition ; Pigmentation ; Subcutaneous Tissue ; Tongue ; Uniparental Disomy

Background: To date, only a few studies have reported the relationship between shift work and subclinical hypothyroidism. Therefore, this study aimed to investigate this relationship. Subclinical hypothyroidism is defined as normal thyroxine (free T4) and thyrotropin (thyroid stimulating hormone, TSH) levels above 10 mU/L. Methods: This study included 12,126 male participants who visited Ulsan University Hospital health promotion center from March 1, 2016 to February 28, 2017. Participants answered a self-administered survey about their marital status, educational level, smoking habits, alcohol intake, and frequency of physical activity. Venous blood sampling was performed after maintaining fasting state for at least 8 hours to test for fasting glucose, hemoglobin A1c, total cholesterol, TSH, and free T4. Results: The TSH level was significantly higher in shift workers than that in the non-shift workers, whereas free T4 level did not show any difference between the two groups. In the shift work group, the odds ratio for subclinical hypothyroidism was significantly higher (odds ratio, 1.99, 95%; confidence interval, 1.16–3.40). This result persisted after adjusting for covariates of age, body mass index, educational level, smoking habits, alcohol intake, and frequency of physical activity. Conclusion The odds of subclinical hypothyroidism were higher in the shift work group. Therefore, clinicians should pay more attention to detect subclinical hypothyroidism in shift workers.

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.

Torsion of the fallopian tube is an uncommon cause for acute low abdominal pain in female that is difficult to diagnose. Because it has no pathognomonic clinical symptoms or laboratory findings, a high index of suspicion is important when there is history of pelvic pathologic conditions or surgery. The early diagnosis and surgical treatment of the disease are mandatory to preserve oviduct.
Abdominal Pain ; Adolescent* ; Animals ; Early Diagnosis ; Fallopian Tubes* ; Female ; Humans ; Oviducts

OBJECTIVE: We used nucleated erythrocytes in maternal blood for prenatal determination of the fetal gender as the preliminary experiment for the screening of fetal genetic status and the BclI DNA polymorphism in an attempt to clarify the origin of erythrocytes in maternal blood. METHODS: In seventeen pregnant women, venous blood was withdrawn and the nucleated erythrocytes were recovered by magnetic activated cell sorting (MACS) and immunostaining. After isolation of nucleated erythrocytes by micromanipulation, we performed nested PCR for amelogenin gene to identify the fetal gender and performed BclI DNA polymorphism to clarify the origin of erythrocytes. RESULTS: We could amplify the minute DNA in a single cell by primer extension preamplification and nested PCR of amelogenin gene in 94 (48.7%) cells and could identify the fetal gender by 58.8%. BclI DNA polymorphism revealed that the several cells, which did not reveal the specific band of Y chromosome in spite of the pregnancy of male fetuses, must be the cells from mother. CONCLUSION: Through this study, we could conclude that several nucleated erythrocytes in maternal blood circulation can originate from mother, therefore we must develop the new method to identify the nucleated erythrocyte of fetal origin. Considering that we must apply for the larger number of pregnant women to screen, the procedure was multi-step and complex. Therefore, we must design the new scheme to utilize the nucleated erythrocytes in maternal blood.
Amelogenin ; Blood Circulation ; DNA ; Erythroblasts ; Erythrocytes ; Female ; Fetus ; Humans ; Male ; Mass Screening ; Micromanipulation ; Mothers ; Polymerase Chain Reaction ; Pregnancy ; Pregnant Women ; Y Chromosome

OBJECTIVES: The Korean government in January 2006 instigated an exemption policy for hospitalized children under the age of six years old. This study examines how this policy affected the utilization of medical care in Korea. METHODS: A total of 1,513,797 claim records from the Health Insurance Review Agency were analyzed by complete enumeration methods. The changes of medical utilization were compared from 2005 to 2006. In addition, the changes of medical utilization between 2004 and 2005 were compared as a pseudocontrol group. RESULTS: The admission rate increased 1.14-fold from 15.20% in 2004 to 17.32% in 2005, and this further increased 1.08-fold to 18.65% in 2006. The increase of patients with a common cold (1.2-fold) was higher than that of both the general patients (1.08-fold) and the patients with the top 10 fatal diseases (0.91-fold). The average length of stay per case for clinics showed the highest increase rates (1.06-fold). The rates of patients with the common cold showed a higher increase (1.05-fold) than that of the general patients. The average medical expense per case was increased by 1.10-fold from 2005 to 2006, which was higher than that from 2004 to 2005 (1.04-fold). The increase rate for patients with the common cold was higher at 1.18-fold than that of the general patients. CONCLUSIONS: The cost exemption policy has especially led to an increase in the utilization of clinics and the utilization by patients with a common cold.
Child, Preschool ; Cost Sharing/*legislation & jurisprudence ; *Health Policy ; Health Services/*utilization ; Hospitalization ; Humans ; Insurance Claim Review ; Korea ; Length of Stay

PURPOSE:The lesion of Congenital Lipoid Adrenal Hyperplasia has been suggested to be in the 1st step of steroidogenesis of conversion of cholesterol to pregnenolone by P450scc. In 1995, however, the molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called Steroidogenic Acute Regulatory Protein(StAR), while the enzyme P450scc itself is normal. This genetic study using automatic sequence analyzer aimed at elucidating the molecular defect in the StAR gene of the two patients. METHODS:This study was performed on the two patients of Congenital Lipoid Adrenal Hyperplasia. Both children were phenotypically females. However, one turned out to have a karyotype of 46, XY, the other 46, XX. Genomic DNAs were extracted from their peripheral blood. We amplified the last exon, hot spot, of the StAR gene using 1 set of primer, S4, 5'-CCT GGC AGC CTG TTT GTG ATA G-3' AS4, 5'-CCT CAT GTC ATA GCT AAT CAG TG-3'. Subsequently, one PCR product have been directly sequenced by dideoxy termination method, and also the other products(patient's and her father's) have been sequenced by automatic sequence analyzer. RESULTS:The mutation was identified in the last exon of the StAR gene, substituting T for A at codon 258, replacing glutamine by stop codon in the two unrelated Korean patients with congenital lipoid adrenal hyperplasia. One patient were found to be homozygote, but the other to be heterozygote for the mutation. CONCLUSIONS:These results indicate that Korean children with congenital lipoid adrenal hyperplasia may be genetically identical as in Japanese. But, we discovered that the hot spot, codon 258, are not always homozygote. We want to emphasize the different point, and to say that we did experiece the automatic sequence analyzer successfully.
Animals ; Asian Continental Ancestry Group ; Cats ; Child ; Cholesterol ; Codon ; Codon, Terminator ; DNA ; Exons ; Female ; Glutamine ; Heterozygote ; Homozygote ; Humans ; Hyperplasia ; Karyotype ; Mitochondria ; Molecular Biology* ; Polymerase Chain Reaction ; Pregnenolone

Macrophage activation syndrome (MAS) is a rare complication in systemic lupus erythematosus (SLE) that can be triggered by infections. Due to the fact that MAS may mimic clinical features of underlying rheumatic disease, or be confused with an infectious complication, its detection can prove challenging. This is particularly true when there is an unknown/undiagnosed disease; and could turn into an even greater challenge if MAS and SLE are combined with a viral infection. A-14-year-old female came to the hospital with an ongoing fever for 2 weeks and a painful facial skin rash. Hepatomegaly, pancytopenia, increased aspartate aminotransferase, elevated serum ferritin and lactate dehydrogenase were reported. No hemophagocytic infiltration of bone marrow was reported. The patient was suspected for hemophagocytic lymphohistiocytosis. Her skin rashes were eczema herpeticum, which is usually associated with immune compromised conditions. With the history of oral ulcers and malar rash, positive ANA and low C3, C4 and the evidence of hemolytic anemia, she was diagnosed as SLE. According to the diagnostic guideline for MAS in SLE, she was diagnosed MAS as well, activated by acute HSV infection. After administering steroids and antiviral agent, the fever and skin rash disappeared, and the abnormal laboratory findings normalized. Therefore, we are reporting a rare case of MAS triggered by acute HSV infection as the first manifestation of SLE.
Anemia, Hemolytic ; Aspartate Aminotransferases ; Bone Marrow ; Exanthema ; Female ; Ferritins ; Fever ; Hepatomegaly ; Humans ; Kaposi Varicelliform Eruption ; L-Lactate Dehydrogenase ; Lupus Erythematosus, Systemic* ; Lymphohistiocytosis, Hemophagocytic ; Macrophage Activation Syndrome* ; Macrophage Activation* ; Macrophages* ; Oral Ulcer ; Pancytopenia ; Rheumatic Diseases ; Steroids