IRF6 gene variants in Central European patients with non‐syndromic cleft lip with or without cleft palate

Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non‐syndromic cleft lip with or without cleft palate (NSCL/P). A recent study has suggested that the functionally relevant variant rs642961 is the underlying cause of the observed associations. We genotyped rs642961 in our Central European case–control sample of 460 NSCL/P patients and 952 controls. In order to investigate whether other IRF6 variants contribute independently to the etiology of NSCL/P, we also genotyped the non‐synonymous coding variant V274I (rs2235371) and five IRF6‐haplotype tagging single nucleotide polymorphisms (SNPs). A highly significant result was observed for rs642961 (P = 1.44 × 10^?6) in our sample. The odds ratio was 1.75 [95% confidence interval (CI): 1.38–2.22] for the heterozygous genotype and 1.94 (95% CI: 1.21–3.10) for the homozygous genotype, values that are similar to those reported in a previously published family‐based study. Our results thus confirm the involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population. We also found evidence suggestive of an independent protective effect of the coding variant V274I. In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP‐based and resequencing studies using large samples of patients.     

Association of benign recurrent vertigo and migraine in 208 patients

The aim of this study was to determine the association of benign recurrent vertigo (BRV) and migraine, using standardized questionnaire-based interview of 208 patients with BRV recruited through a University Neurotology clinic. Of 208 patients with BRV, 180 (87%) met the International Classification of Headache Disorders 2004 criteria for migraine: 112 migraine with aura (62%) and 68 without aura (38%). Twenty-eight (13%) did not meet criteria for migraine. Among patients with migraine, 70% experienced headache, one or more auras, photophobia, or auditory symptoms with some or all of their vertigo attacks, meeting the criteria for definite migrainous vertigo. Thirty per cent never experienced migraine symptoms concurrent with vertigo attacks. These met criteria for probable migrainous vertigo. Among patients without migraine, 21% experienced either photophobia or auditory symptoms with some or all of their vertigo attacks; 79% experienced only isolated vertigo. The age of onset and duration of vertigo attacks did not differ significantly between patients with (34 ± 1.2 years) and patients without migraine (31 ± 3.0 years). In patients with migraine, the age of onset of migraine headache preceded the onset of vertigo attacks by an average of 14 years and aura preceded vertigo by 8 years. The most frequent duration of vertigo attacks was between 1 h and 1 day. Benign recurrent vertigo is highly associated with migraine, but a high proportion of patients with BRV and migraine never have migraine symptoms during their vertigo attacks. Other features such as age of onset and duration of vertigo are similar between patients with or without migraine.     

Location of Cardiac Arrests in the Public Access Defibrillation Trial

Background. The Public Access Defibrillation (PAD) Trial found an overall doubling in the number of out-of-hospital cardiac arrest (CA) survivors when a lay responder team was equipped with an automated external defibrillator (AED), compared with cardiopulmonary resuscitation (CPR) alone. Objectives. To describe the types of facilities that participated in the trial andto report the incidence of CA andsurvival in these different types of facilities. Methods. In this post-hoc analysis of PAD Trial data, the physical characteristics of the participating facilities andthe numbers of presumed CAs, treatable CAs, andsurvivors are reported for each category of facilities. Results. There were 625 presumed CAs at 1,260 participating facilities. Just under half (n = 291) of the presumed CAs were classified as treatable CAs. Treatable CAs occurred at a rate of 2.9 per 1,000 person-years of exposure; rates were highest in fitness centers (5.1) andgolf courses (4.8) andlowest in office complexes (0.7) andhotels (0.7). Survival from treatable CA was highest in recreational complexes (0.5), public transportation sites (0.4), andfitness centers (0.4) andlowest in office complexes (0.1) andresidential facilities (0.0). Conclusions. During the PAD Trial, the exposure-adjusted rate of treatable CA was highest in fitness centers andgolf courses, but the incidence per facility was low to moderate. Survival from treatable cardiac arrest was highest in recreational complexes, public transportation facilities, andfitness centers.     

Insulin signaling in the adipocyte

Mammalian adipose tissue serves a number of functions, including storage of nutrients for periods of fasting and control of organismal metabolism. Critical to these functions is the capacity of the fat cell to respond to insulin with a significant increase in glucose uptake. It is now generally recognized that the major site of action of insulin in this tissue is the mobilization of a pool of latent, intracellular transport proteins. Nonetheless, the precise signaling pathways which mediate the insulin-stimulated increase in glucose transport remain uncertain. In recent years, the serine/threonine protein kinase Akt/PKB has emerged as an important candidate signaling molecule. Considerable current effort is being directed at trying to definitively establish whether Akt/PKB is an important intermediate in insulin signaling to glucose transport in muscle and fat.     

Left ventricular remodeling after pulmonary autograft aortic valve replacement: evaluation with color-Doppler echocardiography and magnetic resonance imaging

The superior hemodynamic performance of the pulmonary autograft in aortic position is expected to reflect complete regression of hypertrophy and improved ventricular function. We evaluated and compared early and midterm transthoracic color-Doppler echocardiography (TTE) and magnetic resonance imaging (MRI) assessment concerning left ventricular (LV) function, LV mass regression, and performance of the semilunar valves. A total of 42 consecutive patients, mean age 36 +/- 6 years (range 15 to 56 years), were studied. TTE and MRI were performed preoperatively, at discharge, and at 6 and 12 months postoperatively. Left ventricular diameters and function and LV wall thickness and mass were assessed. There was no early and one late postoperative death. Maximum and mean LV outflow gradients were significantly reduced (p = 0.0001 and p = 0.0001, respectively). There was a significant reduction in left ventricular mass to near normal for all patients (p = 0.001) seen after 6 months. This was paralleled by significant reductions in the interventricular septum and posterior wall thickness, but difference was slight during further follow-up. There was a strong correlation between the results obtained by TTE and MRI for LV mass and ejection fraction (r = 0.86 and 0. 87, respectively). The pulmonary autograft operation gives excellent results that are translated into greater, rapid, and near complete regression of LV hypertrophy. Magnetic resonance imaging is a sensitive and noninvasive methodology that provides reliable visualization and quantification of ventricular performance.     

Pumpless extracorporeal lung assist using an arterio-venous shunt. Applications and limitations

We report the use of a pumpless extracorporeal lung assist (PECLA) in 70 patients with severe pulmonary failure of various causes. The device was used under rescue conditions in patients with preserved cardiac function. By establishing a shunt between femoral artery and vein using the arterio-venous pressure gradient as the driving force for the blood flow through the oxygenator, PECLA proved to be extremely effective in terms of oxygenation and carbon dioxide removal.