No abstract available.
Adolescent ; Adolescent, Hospitalized* ; Humans ; Mental Disorders*

Miller-Dieter syndrome consists of severe type I lissencephaly, abnormal facial appearance, and sometimes other birth defects. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. It comprises the agyria-pachygyria spectrum of malformation, thus excluding polymicrogyria and other cortical dysplasia. Type I lissencephaly results from abnormal migration between about 10 and 14 weeks gestaion. The brain is often small, and the ventricle is enlarged posteriorly The corpus callosum may be small or absent. The structural pattern of the cerebral hemispheres and ventricles is distintly immature, reminiscent of fetal brain. The superficial cellular layer resembles an immature cortex, with some separation into zones similar to layers III, V, and VI of normal cortex, although the cell population is decreased. In 1963 Miller described a malformation syndrome in a brother and sister with postnatal growth deficiency, craniofacial defects, and serious abnormalities of neurologic function. Autopsy at 3 and 4month of age, respectively, revealed lissencephaly. Subsequently, Dieker reported four additional patients with this disorder and referred to it as the 'lissencephaly syndrome'. We have experienced a case with this syndrome. Then we report this rare case with brief review of literature.
Autopsy ; Brain ; Cerebrum ; Congenital Abnormalities ; Corpus Callosum ; Humans ; Lissencephaly ; Malformations of Cortical Development ; Neurons ; Siblings

OBJECTIVE: In the previous study, we compiled the differentially expressed genes during early folliculogenesis.1 Objective of the present study was to identify downstream target genes of transcription factors (TFs) using bioinformatics for selecting the target TFs among the gene lists for further functional analysis. MATERIALS AND METHODS: By using bioinformatics tools, constituent domains were identified from database searches using Gene Ontology, MGI, and Entrez Gene. Downstream target proteins/genes of each TF were identified from database searches using TF database (TRANSFAC(R) 6.0) and eukaryotic promoter database (EPD). RESULTS: DNA binding and trans-activation domains of all TFs listed previously were identified, and the list of downstream target proteins/genes was obtained from searche of TF database and promoter database. Based on the known function of identified downstream genes and the domains, 3 (HNF4, PPARg, and TBX2) out of 26 TFs were selected for further functional analysis. The genes of wee1-like protein kinase and p21WAF1 (cdk inhibitor) were identified as potential downstream target genes of HNF4 and TBX2, respectively. PPARg, through protein-protein interaction with other protein partners, acts as a transcription regulator of genes of EGFR, p21WAF1, cycD1, p53, and VEGF. Among the selected 3 TFs, further study is in progress for HNF4 and TBX2, since wee1-like protein kinase and cdk inhibitor may involved in regulating maturation promoting factor (MPF) activity during early folliculogenesis. CONCLUSIONS: Approach used in the present study, in silico analysis of downstream target genes, was useful for analyzing list of TFs obtained from high-throughput cDNA microarray study. To verify its binding and functions of the selected TFs in early folliculogenesis, EMSA and further relevant characterizations are under investigation.
Computational Biology ; Computer Simulation* ; DNA ; Gene Ontology ; Maturation-Promoting Factor ; Oligonucleotide Array Sequence Analysis ; Protein Kinases ; Transcription Factors* ; Vascular Endothelial Growth Factor A

No abstract available.
Seasonal Affective Disorder* ; Seasons*

No abstract available.
Animals ; Carcinogenesis* ; Dimethylnitrosamine* ; Female* ; Humans ; Mice*

No abstract available.
Asthma* ; Immunotherapy*

No abstract available.
Humans ; Infant, Newborn* ; Tetralogy of Fallot*

Hyperkeratosis of the renal pelvis and ureter is a rare condition and is explained by the metaplastic change from transitional to cornified squamous epithelium. This lesion is frequently associated with, and perhaps caused by chronic urinary infection, but potentially premalignant, accompaning with carcinoma in about 10 to 20 per cent of the cases at the time of diagnosis. A case of hyperkeratosis of renal pelvis & ureter which was clinically suspected of carcinoma in a 49-year old woman with a long history of chronic pyelonephritis is presented with review of literature.
Female ; Humans

A rate com;lication of hysterectomy is complete prolapse and inversion of vagina. This can occur whether the hysterectomy was abdominal or vaginal and cystocele and/or enterocele is often associated with this condition. Traditionally, prolapse has been treated by surgery, the types of operation for prolapse are generally but not always, carried out through the vaginal rather than through the abdominal surgical route. We experienced five cases who had repair of posthysterectomy vaginal vault prolapse by transabdominal sacral colpopexy and report with brief review of literatures.
Cystocele ; Hernia ; Hysterectomy* ; Pelvic Organ Prolapse* ; Prolapse ; Vagina

No abstract available.
Child* ; Epilepsy* ; Humans