Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.
Arm ; Autopsy ; Birth Weight ; Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Fathers ; Fetal Growth Retardation ; Fetus ; Foot ; Gestational Age ; Hernia, Diaphragmatic ; Humans ; Karyotype ; Karyotyping ; Lung ; Male ; Mothers ; Neck ; Ultrasonography, Prenatal ; Wolf-Hirschhorn Syndrome

PURPOSE: The purpose of the study was to identify factors influencing physical activity among community-dwelling older adults with type 2 diabetes. The study design was based on the Theory of Triadic Influence. METHODS: A total of 242 older adults with type 2 diabetes participated in this study. Six variables related to physical activity in older adults, including self-efficacy, social normative belief, attitudes, intention, experience, and level of physical activity, were measured using reliable instruments. Data were analyzed using descriptive statistics, Pearson's correlation analyses, and a path analysis. RESULTS: The mean physical activity score was 104.2, range from zero to 381.21. The path analysis showed that self-efficacy had the greatest total effect on physical activity. Also, experience had direct and total effects on physical activity as well as mediated the paths of social normative beliefs to attitudes and intention to physical activity. These factors accounted for 10% of the total variance, and the fit indices of the model satisfied the criteria of fitness. CONCLUSION: The findings of the study reveal the important role of self-efficacy and past experience in physical activity in older adults with type 2 diabetes.
Aged ; Aged, 80 and over ; Attitude ; Diabetes Mellitus, Type 2/*physiopathology/psychology ; Female ; Humans ; Male ; Motor Activity/*physiology ; Personal Satisfaction ; Residence Characteristics ; Self Efficacy ; Surveys and Questionnaires

Tumor necrosis factor-n (TNF - alpha) involved in the pathogenesis of multiple sclerosis and contribute to the degeneration of oligodendrocytes as well as neurons. TNF - alpha is produced by miocroglia and astrocytes, which also produce hormones and cytokines that influence its biological activity. Astrocytes, the major glial cells in the CNS, are capable of producing TNF - alpha at both the mRNA and protein levels in response to interleukine-1 (IL-1) or TNF - alpha. Two immunosuppressive cytokines, transforming growth factor - beta (TGF - beta) and IL-10, have been shown to influence glial cell function. TGF - beta can modulate the activity of glial cells by inhibiting interferon-gamma (IFN - gamma) induced expression of class II major histocompatibility complex (MHC) molecules on astrocytes and microglia. To explore the role of astrocytes in the production of TNF - alpha, astrocytes were pretreated with IL-10 or TGF - beta and then stimulated with IL-1p to determine their effects on TNF - alpha production. The secretion of TNF - alpha by human fetal astrocytes was markedly inhibited by TGF - beta at a low concentration. In contrast IL-10 had no effect on TNF - alpha mRNA level. These results show that TGF - beta may regulate the expression of TNF - alpha in activated human fetal astrocytes.
Astrocytes* ; Cytokines ; Gene Expression* ; Humans* ; Interferon-gamma ; Interleukin-10 ; Major Histocompatibility Complex ; Microglia ; Multiple Sclerosis ; Necrosis ; Neuroglia ; Neurons ; Oligodendroglia ; RNA, Messenger ; Transforming Growth Factors

PURPOSE: This study was aimed to evaluate the effect of the deproteinated bovine bone powder (DBBP) coated with calcium phosphate (Ca-P) on osseous regeneration in the calvarial bone defect of rat. MATERIALS AND METHODS: The DBBP (Control group, n=6) and the Ca-P coated DBBP (Experimental group, n=6) were grafted in the critical sized calvarial bone defect (8 mm) of rat weighing 250 g. The animals were sacrificed at 1, 4 week. The biopsy specimens were decalcified with 5% formaldehyde and embedded in paraffin. The rats were sacrificed at 8 week received tetracycline (1 week), calcein blue (4 week), and alizarin red (7 week), and the biopsy specimens were taken. The specimens were embedded in methylmethacrylate and ground to 10 micrometer thin sections were made. All of the specimens were stained with H & E and Masson's trichrome and examined under light microscope. The specimens at 8 week were examined under fluorescent microscope. RESULTS: In the Control group, the grafted DBBP was surrounded with connective tissue, and osteoblasts were observed partially around the grafted particles at 1 week. At 4 week, some osteoid was observed and, new bone formation was observed at the periphery of grafted materials at 8 week, In the Experimental group, some osteoid was seen at the periphery of the grafted Ca-P coated DBBP at 1 week, and osteoblast and newly formed bone were observed around the grafted materials. At 8 week, newly formed bone was observed at the periphery of the grafted materials. CONCLUSION: These results suggest that Ca-P coated DBBP group was more and faster than DBBP group in new bone formation and Ca-P could contribute to enhance bone formation in the critical sized calvarial bone defect of rat.
Animals ; Biopsy ; Calcium ; Connective Tissue ; Formaldehyde ; Methylmethacrylate ; Osteoblasts ; Osteogenesis ; Paraffin ; Rats* ; Regeneration* ; Tetracycline ; Transplants

No abstract available.
Anemia, Aplastic*

The common causal lesions of pure dysarthria syndrome were known as anterior or posterior internal capsule, genu of internal capsule, adjacent corona radiata, or pons. And there are a few reports showed that bilateral small thalamic infarctions or paravermal cerebellar infarction also caused pure dysarthria. The rostral cerebellum, especially paravermal region is thought to have a major role in coordination of speech. The paravermal region is Intimately connected to caudal red nucleus. We report a patient with acute dysarthria and minlmal contralateral limb ataxia, in whom the causal lesion was in caudal red nucleus and superior part of decussation of brachium conjunctivum.
Ataxia ; Cerebellum ; Dysarthria* ; Humans ; Infarction* ; Internal Capsule ; Mesencephalon* ; Pons ; Red Nucleus

The purine antimetabolite 6-Mercaptopurine (6-MP) has been in clinical use for over 30 years and is still a widely used agent in the treatment of childhood acute lymphoblastic leukemia. The bioavailibility, clinical efficacy and toxicity of 6-MP administered orally for maintenance therapy of children with acute lymphoblastic leukemia are highly variable in many studies, as well as at differnt times in same patient. there are many factors affecting the bioavailibility of 6-MP. The most notably factor being that concomitantly administered drugs and foods might contribute to a decrease in the bioavailibity of this drug. In our sociocultural environment milk is a major constituent of child's foods. Cow's milk contains a high concentration of xanthine oxidase, which could potentially transform 6-TM into 6-thioxanthine (6-TX) and 6-thiouric acid (6-TUA) which have no more therapeutic effects. In this study, we evaluated the effect of various milk products on the bioavailability of 6-MP. Incubation at 37degrees C for 30 min raw or pasteurized milk resulted in transformation of a large quantity of clinically relevant concentration of 6-MP into 6-TUA. The concomitant adminstration of folic acid and allopurinol has markedly inhibitory effect on the 6-MP destroying activity of milk at clinically relevant concentrations. These observations may help to optimize modalities of administration of 6-MP for the treartment of patients with childhood leukemia.
6-Mercaptopurine* ; Allopurinol ; Biological Availability* ; Child ; Complement Factor B ; Folic Acid ; Humans ; Leukemia ; Milk* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Xanthine Oxidase

Marfan syndrome is infrequently diagnosed early in infancy. The morphologic characteristics and prognosis in infantile Marfan syndrome may be quite different from those in older patients. Characteristic cardiac findings in early life include mitral valve prolapse, valvular regurgitation, and aortic root dilation. Morbidity and mortality may be high for infants diagnosed with Marfan syndrome. Cardiac surgery for cardiovascular complication in infants often resulted in mortality due to the patient's young age and small size of valve. But recently, some reports say that operations for cardiovascular complications of Marfan syndrome can be performed in children with low operative morbidity and mortality. Echocardiographic findings of this patient were mitral valve prolapse, severe mitral regurgitation and aortic root dilatation. She underwent mitral valve replacement due to severe mitral valve prolapse and mitral regurgitation, and will have an aortic root and valve replacement in the near future. We experienced a case of infantile Marfan syndrome diagnosed by echocardiographic findings, and reported the case with associated literature.
Child ; Dilatation ; Echocardiography ; Humans ; Infant ; Marfan Syndrome* ; Mitral Valve ; Mitral Valve Insufficiency ; Mitral Valve Prolapse ; Mortality ; Prognosis ; Thoracic Surgery

The purpose of this study was to examine dietary attitudes of students and changes in their attitudes toward the school lunch service. The participants of the study were 483 students ranging from third grade elementary school students to middle school sophomores living in the Seoguipo area of Jeju Island. The subjects were asked to complete questionnaires under the supervision of their teachers or dietitians, and data were grouped into elementary school 3rd and 4th grades, elementary school 5th and 6th grades; and middle school 1st and 2nd grades for each gender. There were no significant differences among the groups with respect to their regularity of food intake, dietary considerations, or the frequency of imbalance in their diets. In the case of female participants, their frequency of snacking decreased as their grade level increased. In general, the overall changes in dietary attitudes became more negative as their grade level increased. Male students demanded increased serving sizes of both staple food and side dishes, while female students demanded increased serving sizes dishes, but not staple food as their grade levels increased. there was also an increase in the number of student sin higher grades who discarded or did not eat enough their entire meals. The major reasons for not eating the food were : no taste to the food and not proper saltiness of food. These results may suggest that school dietitians need to pay more attention to increased taste and proper seasoning of meals. Students suggested that the school lunch service should be continued, but that it needs improvement. Students in higher grades were more aware of the importance of the environment in which the meal was provided. Also, an early education in nutrition and healthy diets seemed important in preparing them for following a healthy lifestyle in later life.
Diet ; Eating ; Education ; Female ; Food Habits ; Humans ; Life Style ; Lunch* ; Male ; Meals ; Nutritionists ; Organization and Administration ; Seasons ; Serving Size ; Snacks ; Surveys and Questionnaires

The halophilic bacterium, Vibrio vulnificus, causes acute fulminating wound infections and septicemia in human. Especially the septicemia shows high mortality above 50%. In Korea, septicemia by V. vulnificus was reported at westem and southern coast in every year. Here, we try to isolate this V. vulnipcus at Kyoung-nam area and coast of Pusan during 1996. Purposed sites were Dadaepo, Songjung, Chungsapo and Mipo of Pusan and Kijang, Ilkuang, Juksoung, Dongam, Waljun and Chilam of southern sea. Total 40 strains of V. vulnipcus were isolated from sea samples. Biochemical characteristics of isolated V. vulnificus were almost same with reference strain V. vulnificus ATCC 27562 on Farmer's tests and on API 20E kit test. V. vulnificus isolates in 1996, fermented cellobiose and salicin but arabinose. and had resistance to 7% sodium chloride.
Arabinose ; Busan* ; Cellobiose ; Humans ; Korea* ; Mortality ; Sepsis ; Sodium Chloride ; Vibrio vulnificus* ; Vibrio* ; Wound Infection