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

PURPOSE: This study examined relationships among stress, stress coping strategies, and somatization in mothers-in-law from multi-cultural families in a rural area. METHODS: Elderly mothers-in-law (n=227) living with foreign daughters-in-law completed a self-reporting questionnaire. Data were collected from April to August 2009. Questions related to stress (Visual Analog Scale, VAS), coping strategies (Coping Strategy Scale) for stress, and somatization (Symptom Check List 90, Revised). SPSS/WIN 12.0 program was used for descriptive analysis, t-test, one-way ANOVA, Pearson correlation, and multiple regression analyses. RESULTS: Subjects had a moderate level of stress (5.03). There were significant differences in stress level according to age, educational level, religion, chronic disease, health status, number of children, agreement of an international marriage of her sons, satisfaction in living with a foreign daughter-in-law, and family conflict. Stress showed a significant positive correlation with offensive coping strategy, passive strategy, and somatization. Stress, offensive coping strategy, and passive coping strategy affected the level of somatization. CONCLUSION: In a family situation involving co-habitation of mother- and foreign daughter-in-law, increased stress experienced by the mother-in-law can lead to increased offensive and passive coping strategies, and increased somatization. More effective means of stress reduction are needed for mothers-in-law from multi-cultural families.
Adaptation, Psychological ; Aged ; Child ; Chronic Disease ; Family Conflict ; Humans ; Marriage ; Somatoform Disorders ; Surveys and Questionnaires

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

PURPOSE: According to the AAST (American Association for the Surgery of Trauma) injuries to the testes are rare, but there are many reports in the literature on other organs using the AAST Organ Injury Scale (OIS). In the present study, the authors evaluated the usefulness of the AAST OIS when applied to the testis. MATERIALS AND METHODS: A retrospective review was performed on 65 patients (mean age 30.0 years) with a testis injury treated between March 1986 and July 2006. Of the 65 patients, preoperative ultrasonography was performed on 51. Injuries were classified according to the OIS of the AAST, based on history taking, a physical examination and scrotal ultrasonography. RESULTS: Of the 51 patients, 46 and 5 underwent surgical intervention and conservative management, respectively. Of the included patients, 38 were found to have abnormal testis contours on ultrasonography, 29 had a rupture of the tunica albuginea, with a sensitivity of 76.3%. Of the 13 patients with normal contours, the tunica albuginea was normal in 7, and 8 underwent operation, with a specificity of 87.5%. Of the 12 Grade I patients, 7 underwent an operation, but the testes contours were normal. Of the 8 Grade II patients, only 1 underwent a primary repair with partial orchiectomy, but of the 45 Grades III, IV or V patients, 35 underwent a primary repair with a partial orchiectomy or orchiectomy with a hematoma evacuation performed in 10. CONCLUSIONS: Ultrasonography was found to be the most effective modality for detecting a rupture of the tunica albuginea, and the authors conclude that the AAST OIS can be used to determine the treatment modality. Our recommended treatment policy is as follows; conservative for Grade I, exploration and repair for Grade II, and exploration, and a partial orchiectomy or orchiectomy for Grades III, IV or V. In particular, an orchiectomy is the most commonly used modality for Grade V.
Hematoma ; Humans ; Orchiectomy ; Physical Examination ; Retrospective Studies ; Rupture ; Sensitivity and Specificity ; Testis ; Ultrasonography ; Wounds and Injuries

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

No Abstract Available.
Cell Line* ; Humans* ; Vascular Endothelial Growth Factor A*

No Abstract Available.
Cell Line* ; Humans* ; Vascular Endothelial Growth Factor A*