Identification of a New Mutation Underlying Regressive Episodic Ataxia Type I.

Episodic ataxia type 1 (EA1), a -like K, is a consequence of genetic anomalies in the gene that lead to dysfunctions in the voltage-gated K channel Kv1. 1. Generally, mutations are inherited in an autosomal dominant manner.

Susac's Syndrome (Retinocochleocerebral Vasculopathy): Follow-up of a Pediatric Patient.

Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years.

Wheezing, asthma, and atopy in premature infants at 2 years of age.

Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a cross-sectional study.

Materials And Methods: Premature infants at <37 weeks of gestational age (GA) were assessed for atopy by skin-prick test and serum immunoglobulin E level at 2 years of age. The family's and infant's histories of allergy, BA, atopy, and wheezing were obtained by questionnaire and from hospital records.

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with Gene Mutations.

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with gene mutation.

Increased asymmetric dimethylarginine levels in severe transient tachypnea of the newborn.

Objective: Nitric oxide (NO) is synthesized by NO synthase (NOS), and asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of NOS. We aimed to investigate l-arginine and ADMA levels in transient tachypnea of the newborn (TTN) and their relationship with systolic pulmonary artery pressure (PAP) and disease severity.

Study Design: Infants born at ⩾35 weeks gestational age with clinical signs and chest X-ray findings consistent with TTN were enrolled; controls were recruited at the same time.

Three-dimensional echocardiographic evaluation of a patient with double-orifice mitral valve, bicuspid aortic valve, and coarctation of aorta.

A 16-year-old male patient was diagnosed with bicuspid aortic valve and coarctation of aorta, and had a history of a subclavian patch plasty operation at 1 year of age. In addition, we detected double-orifice mitral valve (DOMV) at a routine evaluation and demonstrated by both two-dimensional and three-dimensional (3D) echocardiographic examinations. DOMV should be kept in mind in cases with left ventricular obstructive lesions and 3D echocardiography may provide a more detailed assessment of mitral valve and subvalvular apparatus.