Introduction: Meatal stenosis is a recognized complication of circumcision done during nappy aged boys as a late presentation. The objective of this study was to describe the incidence of documented meatal stenosis in boys circumcised in infantile period. Method: Meatal stenosis was defined as change in appearance of the delicate lips of the urinary meatus, with loss of ellipticated shape to a...

PURPOSE Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia. METHODS AND RESULTS Direct sequencing of ...

W H , IEN GIVEN THE SUGGESTION that he is 5 months old, the hypnotized person at times indulges in infantile acts such as thumbsucking, babbling, crawling, bed-wetting, and feeding from a bottle. Pertinent to on-going research in the behavioral and physiological sciences are reports indicating that during such "hypnotic age regression" subjects manifest (1) some infantile reflex responses and (...

Caffey’s disease was characterized by a triad of symptoms, irritability, soft tissue swelling, and underlying cortical bone thickening. It mostly occurs before the first 5 months life in infancy. The knowledge this pathology essential as it masquerades wide range diseases including acute osteomyelitis, tumors, trauma, battered baby syndrome (child abuse), hypervitaminosis a, scurvy, infantile m...

BACKGROUND Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. METHODS A ...

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmaco...

Abstract Background The incidence of infant apparent life-threatening event (ALTE) was reported as 0.6-2.4 per 1000 live birth. difficulty the diagnosis lies in delicate interpretation results clinical examination and complementary examinations. objectives this study were to describe epidemiological, paraclinical characteristics infants hospitalized for ALTE determine most common diagnosis. Met...