BACKGROUND Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with P...

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and descri...

Not infrequently, in pediatric practice one is confronted by anxious parents of children with voiding abnormalities. These include children who wet themselves, have frequent micturtion, urgency or dribbling. In these subjects investigations like urinalysis, renal ultrasound, intravenous urogram or voiding cystourethrogram (VCUG) are usually conducted. Often, the results of these investigations ...

INTRODUCTION Hypodontia is the most frequent developmental anomaly of the orofacial complex, and its detection in prenatal ultrasound may indicate the presence of congenital malformations, genetic syndromes and chromosomal abnormalities. To date, only a few studies have evaluated the histological relationship of human tooth germs identified by two-dimensional (2D) ultrasonography. In order to a...

Fibrinogen is essential for the formation of a fibrin clot. Acquired and congenital disorders of fibrinogen may result in decreased concentration or altered function of fibrinogen, often leading to an increased risk of bleeding. Routine coagulation testing and specialized laboratory investigations can guide diagnosis in patients suspected of having a fibrinogen abnormality. This article summari...

The nature of saccadic abnormalities in schizophrenia was investigated in three different paradigms: (1) the visually guided saccade; (2) the antisaccade; and (3) the remembered saccade paradigm. Subjects comprised 14 schizophrenic patients and 14 normal volunteers. Deficits in the schizophrenic group were observed in the antisaccade and remembered saccade tasks, both of which were characterize...

The ocular features of eight cases of arhinencephaly have been described. Prediction of the degree of brain involvement from the eye defects could not be made, but eye abnormalities were present in all cases. The relationship of these syndromes to chromosomal abnormalities is emphasized. In the less severe cases treatable endocrine dysgenesis must be excluded.

Cloning is powerful tool for production of genetically identical copies of desired donor animal but its success is still questionable. Due to number of factors, many scientist and common people are against cloning. Up to now it’s consider as inefficient technique due to high failure of cloned animal growth from gestation to adulthood. Mostly losses in cloned animals are due to placental abnorma...

OBJECTIVE To determine whether the absence of early epileptiform abnormalities predicts absence of later seizures on continuous EEG monitoring of hospitalized patients. METHODS We retrospectively reviewed 242 consecutive patients without a prior generalized convulsive seizure or active epilepsy who underwent continuous EEG monitoring lasting at least 18 hours for detection of nonconvulsive se...