Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS cases remains unknown. The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS.

Preliminary results of aflibercept in treatment-naive choroidal neovascularization of wet age-related macular degeneration.

Background: The aim of this study was to evaluate the early response of aflibercept as first-line therapy in treatment-naive patients with newly diagnosed choroidal neovascularization (CNV) in age-related macular degeneration (AMD).

Patients And Methods: An analysis of 35 eyes (35 patients, 28 female, 7 male) with treatment-naive active CNV was undertaken. Lesion activity was determined based on fluorescein angiography, clinical and optical coherence tomography (OCT) findings, including the presence of sub-, intraretinal fluid, retinal pigment epithelial (RPE) detachment and hemorrhage.

Serum creatine-kinase-BB concentration in very low birth weight babies with posthemorrhagic ventricular dilatation.

The association between measurements of lateral ventricle dilatation determined by serial ultrasound and brain specific creatine-kinase isoenzyme patterns (CK-BB) is studied in 60 very low birth weight preterm neonates of 1,500 g birth weight or 32 weeks gestation or less. The patients were divided into three groups according to cranial ultrasonographic findings: Group A (n = 20) had isolated peri-intraventricular hemorrhage (PIVH); group B (n = 20) had PIVH and dilated ventricles (VM); group C (n = 20) were normal matched preterms and formed the control group. Compared to control babies or those with isolated PIVH, high serum concentrations of CK-BB were observed after birth in babies with persistent dilated ventricles at two weeks postnatal age (p less than 0.

Biochemical timing of peri-intraventricular hemorrhage assessed by perinatal CPK-BB isoenzyme measurements.

Precise diagnosis of peri-intraventricular hemorrhage (PIVH) requires brain real-time ultrasound imaging procedure (US). However, maximal diagnostic efficiency of US lies between day 4 and 14 since fresh blood may initially appear sonolucent. Because of this supposed interval required for clot formation to become visible on US, serum CPK-BB estimations were performed in the first 60 hours of life to determine precise biochemical timing of PIVH.

Neurosonographic and biochemical correlates of periventricular leukomalacia in low-birth-weight infants.

The incidence of periventricular leukomalacia (PVL) was investigated by ultrasound in a group of 119 consecutively scanned low-birth-weight infants during a period of 3 years. The overall incidence of PVL was 6.7% while the incidence of peri-intraventricular hemorrhage was 44.