Objective Over the last years prenatal ultrasound has experienced the benefits of high resolution probes and the use of transvaginal ultrasound to facilitate the difficult diagnosis of central nervous system anomalies. In addition fetal MRI has become a part of a complementary tool in establishing and fine tuning the diagnosis and prognosis. Both techniques deliver their maximal potential in th...

The incidence of fetal chromosomal or structural abnormalities after assisted reproductive treatment (ART) is one of the most intriguing topics. Specifi cally, the central nervous system anomaly rate was found to be 0.7% in fetuses and children conceived after ICSI, which is statistically similar to spontaneous conceptions (1). A partial or complete cerebellar vermian defect may occur sporadica...

Cystinosis is a lysosomal storage disorder characterised by progressive cystine accumulation. The causative gene, CTNS, encodes cystinosin, the lysosomal cystine transporter. Neurological deterioration is one of the last symptoms to appear and the least well characterised. Visuospatial memory deficits have been documented in patients. To determine whether the cystinosis mouse model presents sim...

We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and ha...

In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP...

Peroxisomal metabolism is essential for normal brain development both in men and in mice. Using conditional knock-out mice, we recently showed that peroxisome deficiency in liver has a severe and persistent impact on the formation of cortex and cerebellum, whereas absence of functional peroxisomes from the CNS only causes developmental delays without obvious alteration of brain architecture. We...

5-Fluorouracil (5-FU), a thymidylate synthesis inhibitor, has been well known to induce developmental anomalies in the craniofacial tissues and limb buds. Recently it was reported that microencephaly was also induced in rat neonates after 5-Fu-treatement in late phase of pregnancy (Kumar et al., 2006). In this study, pregnant rats were treated with 5-Fu (15, 30 or 50 mg/kg) on day 13 of gestati...

Aim: To see central nervous system anomaly during pregnancy (anencephaly, hydrocephalus and spina bifida) by ultrasonography associated with folic acid deficiency/ low intake. Study design: cross sectional Site duration: one year from Jan 2021 to Dec at Pak Red Crescent Medical & Dental College teaching Hospital Dina Nath Multan Road Kasur. Method: There was convenient sampling. Written Con...

This work reports an ab initio study on the carbon (C), nitrogen (N), and sulphur (S) elemental isotope compositions of Padanian Plain sediments collected in province Ferrara (Northern Italy). The investigated were already characterized by previous research that highlighted a bimodal provenance, as some are from Alpine chain conveyed to plain Po River, whereas others Apennine Reno River. inform...