Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X‐linked dominant, in utero male‐lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full‐blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.     

Apoptosis and loss of adhesion of bronchial epithelial cells in asthma

BACKGROUND: Asthma is an inflammatory airway disease associated with infiltration of T cells and eosinophils, increased levels of pro-inflammatory cytokines, and shedding of bronchial epithelial cells (EC). We have recently shown that T cells and eosinophils cooperate in inducing bronchial EC apoptosis in asthma through secretion of IFN-gamma and TNF-alpha. Since EC shedding is a histologic hallmark of asthma, the intercellular junction of EC may be a target of pro-inflammatory cytokines. METHODS: Bronchial EC, cultured and exposed to IFN-gamma and TNF-alpha, were studied for the expression of adhesion molecules and apoptosis. In addition, the epithelial layer of bronchial biopsies from asthma patients was evaluated for apoptosis, shedding, and expression of adhesion molecules. RESULTS: We demonstrate that the induction of EC apoptosis is accompanied by loss of E-cadherin. In situ examination of E-cadherin in asthma revealed a reduction in its expression on EC membranes. In contrast, the in vitro and in vivo expression of beta1-integrins and intercellular adhesion molecule-1 (ICAM-1) increased on EC during asthmatic airway inflammation. CONCLUSIONS: Loss of cadherin-mediated intercellular adhesion and apoptosis could account for fragility and shedding of EC in asthma, especially since this occurs between columnar and basal EC.     

Echocardiographic findings in professional league soccer players. Effect of the position of the players on the echocardiographic parameters

BACKGROUND: The purpose of the study was to compare the echocardiographic parameters of soccer players to healthy controls and to assess the effect of the position of the soccer players on the echocardiographic findings. METHODS: M Mode 2D and Doppler echocardiographic examination were carried out on 83 professional league soccer players and 52 healthy controls. RESULTS: Soccer players had increased interventricular septum (1.14+/-0.13 cm vs 0.99+/-0.17 cm, p<0.001) left ventricular posterior wall (1.08+/-0.16 cm vs 0.91+/-0.13 cm, p<0.001) thickness, increased left ventricular diastolic diameter (5.24+/-0.40 cm vs 4.88+/-0.43 cm, p<0.001), volume (133+/-23 ml vs 113+/-22 ml, p<0.001) and increased left ventricular mass index (142+/-28 g/m2 vs 103+/-23 g/m2, p<0.001) compared to controls. Soccer players had greater mitral E wave to A wave ratio (2.08+/-0.53 vs 1.65+/-0.43, p<0.001) compared to controls. Soccer players were subgrouped according to their position in the play as goal keepers, defensive, midfielder, and offensive players. Comparison among defensive, midfield and offensive players revealed subtle differences between defensive and midfield players. Right ventricular dimensions were higher in goal keepers compared to midfielders due to the greater body surface area of the goal keepers (2.8+/-0.4 cm vs 2.4+/-0.5 cm, p<0.05). Left ventricle end diastolic dimension were similar between groups but when these dimensions were corrected for the greater height of the defensive players the difference between midfields and defensive players became significant (3.05+/-0.18 vs 2.89+/-0.22, p=0.05). On Doppler flow parameters the ratio of peak E wave to A wave velocity (2.27+/-0.55 vs 1.84+/-0.36, p<0.05) was increased in midfield players compared to defensive players. CONCLUSIONS: It was concluded that soccer players had greater left ventricular wall thickness, volume and mass compared to controls. But the effect of the position of the players on the measured cardiac dimensions were minimal. These subtle findings were explained by the leveling effect of the playing system and training, and lack of physical training during the previous month.     

2-Methyl-6-(phenylethynyl)-pyridine (MPEP), a potent, selective and systemically active mGlu5 receptor antagonist.

In the present paper we describe 2-methyl-6-(phenylethynyl)-pyridine (MPEP) as a potent, selective and systemically active antagonist for the metabotropic glutamate receptor subtype 5 (mGlu5). At the human mGlu5a receptor expressed in recombinant cells, MPEP completely inhibited quisqualate-stimulated phosphoinositide (PI) hydrolysis with an IC50 value of 36 nM while having no agonist or antagonist activities at cells expressing the human mGlu1b receptor at concentrations up to 30 microM. When tested at group II and III receptors, MPEP did not show agonist or antagonist activity at 100 microM on human mGlu2, -3, -4a, -7b, and -8a receptors nor at 10 microM on the human mGlu6 receptor. Electrophysiological recordings in Xenopus laevis oocytes demonstrated no significant effect at 100 microM on human NMDA (NMDA1A/2A), rat AMPA (Glu3-(flop)) and human kainate (Glu6-(IYQ)) receptor subtypes nor at 10 microM on the human NMDA1A/2B receptor. In rat neonatal brain slices, MPEP inhibited DHPG-stimulated PI hydrolysis with a potency and selectivity similar to that observed on human mGlu receptors. Furthermore, in extracellular recordings in the CA1 area of the hippocampus in anesthetized rats, the microiontophoretic application of DHPG induced neuronal firing that was blocked when MPEP was administered by iontophoretic or intravenous routes. Excitations induced by microiontophoretic application of AMPA were not affected.     

Ultrasonographic evaluation and morphometric measurements of the suprascapular notch

Background:  The aim of this study was to define the sonographic evaluation and morphometric measurements of the suprascapular notch. Methods  The suprascapular notch was evaluated by ultrasound on both sides in 50 volunteers (25 males, 25 females). By means of ultrasound, the notch width, the notch depth and the distance between the skin and the notch base (skin–notch base interval) were measured and imaging of the superior transverse scapular ligament was attempted. Furthermore, imaging of the suprascapular artery and vein was performed by Doppler ultrasound. Results  On the measurements performed, the notch was found to be deeper in men than in women on both the right (P = 0.022) and the left (P = 0.011) sides. Taking all volunteers into account without grouping sex, no differences were detected between the two sides with respect to the measurements of the notch width, notch depth and distance between the skin and the notch base. The superior transverse scapular ligament was demonstrated in 48 (96%) of 50 volunteers. On color Doppler ultrasound, the artery–vein complex was visualized in a total of 43 (86%) volunteers. Conclusions  Suprascapular notch measurements and the visualization of the anatomical neighborhood, which may be beneficial for the suprascapular nerve blockade procedure, can be successfully performed by the use of high-frequency ultrasound imaging.     

Effects of spring-loaded posterior bite-block appliance on masticatory muscles.

The effects of spring-loaded posterior bite-blocks on masticatory muscles were investigated to evaluate the correlation between masticatory muscles and craniofacial form in long-faced children. The appliance was used in 10 subjects (6 girls and 4 boys) with a chronological mean age of 10.40 +/- 1.12 years for the treatment of skeletal anterior open bite. Electromyographic activity of the anterior and posterior temporal and masseter muscles was recorded before and after treatment during postural position, maximal biting, chewing, swallowing, postural position with the appliance in the mouth, and maximal biting with the appliance in the mouth. After treatment, increases in SNB and overbite (P <.05, P <.001, respectively) and decreases in ANB, SNGoAr, and overjet parameters were found to be statistically significant (P <.05, P <.01). When the measurements related to muscle activity were examined, increases in anterior temporal postural (P <.05), anterior temporal chewing (P <.01), masseter chewing (P <.05), posterior temporal chewing (P <. 05), and masseter swallowing (P <.01) were found to be statistically significant. A positive correlation was found between ANB and anterior temporal postural and a negative correlation between SNGoAr and masseter swallowing. The increase in muscle activities was considered to occur as a result of the appliance used.     

Nuchal cord: is it really the silent risk of pregnancy?

Objective: To evaluate the relationship between entanglement of umbilical cord around the fetal neck and adverse perinatal outcomes.

Methods: In this prospective cohort study, perinatal outcomes of 218 pregnancies complicated with nuchal cord (NC) (study group) were compared with 190 uncomplicated pregnancies (control group). Main outcome measures were umbilical cord pH values, APGAR scores and cesarean section (C/S) rates. Fetal distress was stated as an abnormal heart rate pattern on electronic fetal heart monitorization.

Results: There were no statistically significant differences in maternal demographic and obstetric features, between groups. There were no statistically significant differences regarding C/S rates between groups, even though fetal distress was significantly the leading indication for cesarean delivery, in the study group (p?=?0.021). The number of entanglement was significantly related with fetal distress (p?p?=?0.014) and also, amniotic fluid indexes (AFI) were significantly higher in this group (p?=?0.002).

Conclusion: This study demonstrated that, entanglement of umbilical cord around the fetal neck or NC is not related with adverse perinatal outcomes such as acidosis and low APGAR scores. So that, a targeted care on NC via ultrasound during labor, is not an essential part of the examination.