Congenital Rubella syndrome: A short report and literature review.

Rubella infections are rarely seen where immunization programmes are in place. Congenital rubella syndrome is however still observed where the vaccination programme against rubella is not administered or interrupted. We present such a case, with typical clinical anomalies including congenital cataracts, sensorineural hearing loss and bone lesions.

Detection of Deregulated miRNAs in Childhood Epileptic Encephalopathies.

The term "epileptic encephalopathy" is used to describe a possible relationship between epilepsy and developmental delay. The pathogenesis of developmental encephalopathies, independent of epilepsy, can be defined by genetic control mechanisms. The aim of this study was to investigate the use of miRNAs as serum biomarkers for the determination and discrimination of epileptic encephalopathies.

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene.

Retrospective evaluation of childhood paraphenylenediamine intoxication due to black henna.

Background And Objectives: Paraphenylenediamine (PPD) is a toxic substance in henna. Oral intake of this substance causes severe systemic toxicity. To the best of our knowledge there are no studies in the literature conducted only on children exposed to henna intoxication.

The association between seizure self-efficacy of children with epilepsy and the perceived stigma.

This study used a descriptive, correlational, and cross-sectional research design to evaluate the effect of seizure self-efficacy of children with epilepsy on their perceived stigma of seizure. The study was conducted with 303 children with epilepsy. The data of the study were collected using "the Seizure Self-Efficacy Scale for Children" and "the Scale for Perceived Stigma in Children with Epilepsy".

Congenital Total Eversion of Upper Eyelids in a Normal Newborn.

Here, the authors report a rare case of congenital bilateral upper eyelid eversion with severe chemosis that was successfully managed by nonsurgical ways. A 2-hour-old male newborn with bilateral congenital upper eyelid eversion and severe chemosis was properly treated with conservative management consisting of the application of the antibiotic, steroid, and artificial tear drops and ointments in combination with padding the exposed conjunctiva with normal saline-soaked gauzes. The management was resulted in prompt and satisfactory resolution on the 14th day.