Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died ...

The present study evaluates potential hazardous of nickel (Ni(+2) as NiCl2 ·6H2O) to Swiss albino mice fetus. Ni was administered orally on body weight base from days 6 to 13 of gestation period. Based on LD50, Ni doses (46.125, 92.25, and 184.5) mg Ni/kg b.wt. were used. On day 18 of gestation, uteri of the sacrificed dams were examined. A dose-dependent decrease (P < 0.01) in the body weight ...

OBJECTIVE To compare the clinical evolution of perimesencephalic subarachnoid hemorrhage and non-perimesencephalic subarachnoid hemorrhage. METHODS The study was conducted retrospectively in a tertiary hospital center in the north region of Portugal. Included patients had no identifiable cause for subarachnoid hemorrhage. Several epidemiologic, clinical and imaging aspects were statistically ...

The present study gives an overview of the in utero exposure of the developing rat fetus to Racumin rodenticide. In the current investigation, pregnant rats were exposed orally to either 1.65 or 0.83 mg/kg b.wt (1/10 and 1/20 LD50, respectively) of coumatetralyl daily on days 6 through 15 of gestation (organogenesis period). Maternal and fetal parameters were evaluated on day 20 of gestation. F...

The adjunctive role of Doppler colour flow mapping in the evaluation of intracerebral morphology and arterial blood flow in the presence of normal and abnormal central nervous system morphology was determined. A total of 59 fetuses with suspected central nervous system pathology between 14 and 37 weeks of gestation was studied (median 31 weeks). One hundred and one fetuses with normal central n...

Germinal matrix-intraventricular hemorrhage (IVH) is the most common variety of neonatal intracranial hemorrhage and is characteristics of the premature infant. The importance of the lesion relates not only to its high incidence but to their attendant complications (IC: hydrocephalus). Brain sonography is the procedure of choice in diagnosis of germinal matrix- intraventricular hemorrhage and h...

Transgenic mice were generated to permit the targeted ablation of cortical preplate cells at the time they are born. In these mice, the 1.3 kb golli promoter of the myelin basic protein gene was used to drive the herpes simplex virus thymidine kinase (TK) transgene in cortical preplate cells. Heterozygous transgenic pairs were bred, and pregnant dams were treated with ganciclovir at embryonic d...

A glycoprotein with an apparent 340,000 mol wt (gp 340K) was isolated from rat kidney saline-soluble extract by ammonium sulfate precipitation, DE 52 ion-exchange cellulose chromatography, concanavalin A affinity column, Sephacryl S-300 gel filtration, and discontinuous polyacrylamide gel electrophoresis (PAGE). The relative purity of gp 340K was examined by double immunodiffusion analysis, dis...

Dysfunction of primary cilia is associated with tissue-specific or syndromic disorders. RPGR is a ciliary protein, mutations in which can lead to retinitis pigmentosa (RP), cone-rod degeneration, respiratory infections and hearing disorders. Though RPGR is implicated in ciliary transport, the pathogenicity of RPGR mutations and the mechanism of underlying phenotypic heterogeneity are still uncl...

The conserved septin family of filamentous small GTPases plays important roles in mitosis, cell migration and cell morphogenesis by forming scaffolds and diffusion barriers. Recent studies in cultured cells in vitro indicate that a septin complex of septin 2, 7 and 9 is required for ciliogenesis and cilia function, but septin function in ciliogenesis in vertebrate organs in vivo is not understo...