Transaortic septal myectomy at the time of aortic valve replacement for severe aortic stenosis: a case series of 55 cases.

Introduction: Symptomatic aortic valve stenosis (AS) is associated with asymmetric basal septal hypertrophy (ABSH) in 10% of cases. In this cohort, it has been suggested that rectification of the left ventricular outflow tract obstruction (LVOTO) by concomitant septal myectomy (CSM) can improve the results of aortic valve replacement (AVR).

Objective: This study aims to present the technique of AVR with CSM for severe AS with ABSH and to determine the associated early and late post-operative outcomes.

Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.

We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis.

Prostacyclin mimetics inhibit DRP1-mediated pro-proliferative mitochondrial fragmentation in pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a rare cardiopulmonary disorder, involving the remodelling of the small pulmonary arteries. Underlying this remodelling is the hyper-proliferation of pulmonary arterial smooth muscle cells within the medial layers of these arteries and their encroachment on the lumen. Previous studies have demonstrated an association between excessive mitochondrial fragmentation, a consequence of increased expression and post-translational activation of the mitochondrial fission protein dynamin-related protein 1 (DRP1), and pathological proliferation in PASMCs derived from PAH patients.

Cor triatriatum dexter as an incidental finding due to symptomatic bicuspid aortic valve stenosis.

Cor triatriatum is a rare congenital heart defect in which a thin, fibro-muscular membrane divides the left or right atrium into two chambers resulting in a triatrial heart. Subdivision of the left atrium named cor triatriatum sinister (CTS), is the more common form, whereas the right atrial equivalent called cor triatriatum dexter (CTD) is rarer. They account for up to 0.

Therapeutic potential of inhibiting histone 3 lysine 27 demethylases: a review of the literature.

Histone 3 lysine 27 (H3K27) demethylation constitutes an important epigenetic mechanism of gene activation. It is mediated by the Jumonji C domain-containing lysine demethylases KDM6A and KDM6B, both of which have been implicated in a wide myriad of diseases, including blood and solid tumours, autoimmune and inflammatory disorders, and infectious diseases. Here, we review and summarise the pre-clinical evidence, both in vitro and in vivo, in support of the therapeutic potential of inhibiting H3K27-targeting demethylases, with a focus on the small-molecule inhibitor GSK-J4.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

Background: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis.

Case Presentation: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life.

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications.

Objective: Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis.

Methods: From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal samples. The rates of concordant results between the two methods were evaluated and the rates of clinically significant chromosomal abnormalities undetected by QF-PCR were assessed.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH) methods, including centromere-specific multicolor FISH, acrocentric specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor FISH with whole chromosome paint probes.

Assessment of nuchal translucency thickness and the fetal anatomy in the first trimester of pregnancy by two- and three-dimensional ultrasonography: a pilot study.

Aim: To evaluate the use of three-dimensional ultrasonography (3D) as an alternative for examining fetal anatomy and nuchal translucency (NT) in the 1(st) trimester of pregnancy.

Method: Prospective study of 199 low risk pregnant women undergoing 1(st) trimester ultrasound scan for fetal anomalies. The NT and fetal anatomy were evaluated by three-dimensional (3D) ultrasonography after the standard two-dimensional (2D) examination.

First trimester 3D volumetry. Association of the gestational volumes with the birth weight.

Objective: To evaluate the three dimensional ultrasound (3D) in the volume assessment of the gestational contents during the 1st trimester of pregnancy. Our aim was to correlate the embryo, gestational sac, and placenta volume with the birth weight. To monitor the increase of these volumes according to the gestational age.

Selective reduction in twins and multiple pregnancies.

The number of multiple pregnancies has increased, mainly due to the uncontrolled use of the assisted conception techniques. Multifetal pregnancy reduction (MFPR) has been used to reduce the risks associated with these high-risk pregnancies. It is performed in the first trimester of pregnancy by transabdominal injection of potassium chloride into the fetal heart.

The effect of fetal sex on the outcome of labour induction.

The aim of this study was to determine the effect of fetal sex on the process and the outcome of induction of labour. This was a retrospective study of 658 women carrying singleton cephalic pregnancies induced at 37-42 completed weeks' gestation. Male fetuses demonstrated significantly more CTG abnormalities and need for fetal blood sampling.

Menstrual problems in university students: an electronic mail survey.

Objective: To establish the prevalence of menstrual-related problems among university students.

Materials And Methods: A questionnaire regarding gynecological, bleeding and family history was sent by electronic mail (e-mail) to all female students attending University College London (UCL).

Results: A total of 767 students aged 18-39 years replied; 71% had a regular menstrual cycle.

Second trimester amniocentesis in assisted conception versus spontaneously conceived twins.

Objective: To compare the outcome of amniocentesis in twins conceived with assisted reproduction technology (ART) versus spontaneously conceived twins.

Design: Retrospective analysis of case records between 1993 and 2006.

Setting: University-affiliated tertiary center for fetal medicine.

Screening for pre-eclampsia by oxidative stress markers and uteroplacental blood flow.

Recent evidence suggests that the oxidative stress is an important factor in the pathophysiology of pre-eclampsia. The purpose of this study was to evaluate the possible relationship between increased resistance at the Doppler assessment of the uterine arteries between 20-23 gestational weeks and biochemical markers of oxidative stress, with the development of pre-eclampsia and/or growth restricted infants. This was a prospective study of 34 pregnant women with normal uteroplacental flow and 30 women with abnormal uterine arteries Doppler analysis (mean PI >or= 1.

Association between abnormal uterine artery Doppler flow velocimetry, risk of preeclampsia, and indices of arterial structure and function: a pilot study.

Preeclampsia increases the risk of future cardiovascular disease. The association between abnormal uterine artery Doppler flow velocimetry, risk of preeclampsia, and indices of arterial structure and function is investigated in this study. The carotid intima-media thickness of 34 pregnant women with normal uteroplacental flow was compared with 30 women with abnormal uterine artery Doppler analysis during the transvaginal assessment of the uterine arteries at the routine anomaly scan (20-23 weeks of gestation).