Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.     

Prevalence and molecular analysis of β-thalassemia in Adiyaman, Turkey

Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Ad?yaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of β-thalassemia (β-thal). In order to detect β-thal carrier frequency and genotypes of carriers from the city of Ad?yaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of β-thal carriers in the city of Ad?yaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of β-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of β-thal mutations in Ad?yaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation heterogeneity varies from region to region.     

The formation of cataract is earlier in the dominant eye

Relations among handedness, eye dominance, and lateralisation in the formation of cataract were investigated in 35 male and 21 female patients with cataract. In right-handed patients, cataracts formed earlier in the right eyes than in the left eye; this was reversed in left-handed patients. For both right- and left-eye dominant patients, cataracts formed earlier in the dominant eye.     

Relationships between intestinal parasitosis and handedness

The aim of the study was to investigate if there is a possible relation between intestinal parasitosis and handedness in patients with suspected intestinal parasitosis. Hand preference was assessed on the Edinburgh Handedness Inventory. Stool samples were examined microscopically for the presence of parasite. In the present study right-handers had many more helminth infections and left-handers had many more protozoon infections. Lower rate of helminth infections in the present study, and higher asthma incidences in the left-handed population in literature, may be associated with different immune machinery in left-handed people than in right-handed ones.     

Early assessment of percutaneous coronary interventions for chronic total occlusions analyzed by novel echocardiographic techniques

OBJECTIVE:

Successful revascularization of chronic total occlusions has been associated with improved left ventricular systolic function, reduced anginal symptoms, increased exercise capacity, and increased survival. This study was conducted to determine the impact of revascularization in chronic total occlusion on left ventricular function using novel echocardiographic techniques.

METHODS:

A total of 129 patients with chronic total occlusion who underwent revascularization between April 2011 and November 2012 were included in this study. Echocardiographic assessments with two-dimensional speckle tracking echocardiography and real-time three-dimensional echocardiography were performed before the procedure and one month after the procedure. The left ventricular ejection fraction, left ventricular volumes, and three-dimensional systolic dyssynchrony index were quantified.

RESULTS:

An immediate procedural success was obtained in 118 patients (91.5%). There were no acute or subacute stent thromboses during follow-up. The mean left ventricular ejection fraction significantly increased (p<0.001), while the left ventricular end-diastolic and end-systolic volumes significantly decreased (p = 0.001 and p<0.001, respectively). The three-dimensional systolic dyssynchrony index also decreased significantly (p<0.001). The global longitudinal strain showed a significant increase after successful revascularization (p<0.001). An increase in the global longitudinal strain was correlated with an increase in the left ventricular ejection fraction (r = 0.27, p = 0.02). The patients with a left ventricular ejection fraction ≥50% displayed a greater improvement in the global longitudinal strain, and the patients with diabetes showed less improvement.

CONCLUSIONS:

Using novel echocardiographic techniques, our results showed that restoring the coronary blood flow in chronic total occlusion patients reduces the left ventricular volumes and improves the left ventricular ejection fraction and the global longitudinal strain of hibernating myocardium.     

Assessment of the left atrial volume index and plasma NT-proANP level in patients with acute ST-elevation myocardial infarction

OBJECTIVES:

Acute ST-elevation myocardial infarction is associated with ventricular dysfunction due to ischemia-induced progressive myocardial damage. The decrease in ventricular compliance causes left atrial dilatation and stretching of the atrial myocardium, which are the main stimuli for the secretion of atrial natriuretic peptide. The aim of this study was to evaluate left atrial dimensions and atrial natriuretic peptide levels in patients early after their first acute ST-elevation myocardial infarction and assess the probable interaction between coronary lesions and these measurements.

METHODS:

A total of 110 patients with acute myocardial infarction and 50 controls were studied. Plasma atrial natriuretic peptide was measured at admission. Left ventricular function, diameter, and volume index were evaluated using transthoracic echocardiography. Gensini and vessel scores of the patients who underwent coronary angiography were calculated.

RESULTS:

Plasma atrial natriuretic peptide in the patients with myocardial infarction was increased compared with that in controls (3.90±3.75 vs. 1.35±0.72 nmol/L, p<0.001). Although the left atrial diameter was comparable in patients and controls, the left atrial volume index was increased in patients with acute myocardial infarction (26.5±7.1 vs. 21.3±4.9 mL/m², p<0.01). Multivariate regression analysis showed a strong independent correlation between the left atrial volume index and the plasma atrial natriuretic peptide level (β = 0.23, p = 0.03).

CONCLUSIONS:

The left atrial volume index and plasma atrial natriuretic peptide level were correlated in patients with acute myocardial infarction.     

Volumetric Changes in Apical Radiolucencies of Endodontically Treated Teeth Assessed by Cone-beam Computed Tomography 1 Year after Orthograde Retreatment

Introduction

Cone-beam computed tomography (CBCT) allows us to assess in 3 dimensions the location and size of periapical radiolucencies. We aimed to assess by CBCT scans the volumetric changes of periapical radiolucencies in endodontically treated teeth 1 year after orthograde retreatment.

Methods

Forty-five root-filled teeth with persistent apical periodontitis requiring endodontic orthograde retreatment from 37 individuals were included in the study. The research protocol was approved by the VU University Medical Center Amsterdam ethics committee (2007/265), and the participants signed a letter of consent. We made 2 CBCT scans for every patient, the first one before retreatment and the second one a year later. Two observers measured independently the volume of radiolucencies on CBCT images by using the AMIRA software. The intraclass correlation coefficient was used to evaluate interobserver agreement, and the Wilcoxon signed rank test was used to assess pretreatment and post-treatment volume size.

Results

The intraclass correlation coefficients were 0.994 and 0.998 for the scans before retreatment and 1 year after, respectively. The recall rate was 78% for the teeth and 73% for the patients. The volumetric change in periapical radiolucencies 1 year after retreatment was statistically significant (z = −3.112, P < .005). The volume of periapical radiolucencies reduced in 20 teeth (57%), remained unchanged in 8 (23%), and increased in 7 (20%).

Conclusions

One year after endodontic orthograde retreatment, the volume of periapical radiolucencies reduced significantly in 57% of the teeth.     

Effects of severity and location of nonsyndromic hypodontia on craniofacial morphology

Objective:To evaluate the effects of severity and location of nonsyndromic hypodontia on craniofacial morphology.Materials and Methods:A total of 154 patients with at least two or more congenitally missing teeth were selected and divided into two groups (group I [mild]: patients with two to five missing teeth; group II [severe]: patients with six or more missing teeth). The patients with hypodontia were divided into three groups according to the location of missing teeth in the dental arches (anterior, posterior, and both anterior and posterior) and location of missing teeth between the jaws (maxilla, mandible, and both maxilla and mandible). Fifty Class I patients without any missing teeth served as the control group. Twenty-one measurements were performed on lateral cephalograms. Intergroup differences for the severity and location of hypodontia were analyzed using analysis of variance (ANOVA) and post-hoc Tukey tests.Results:Significant decreases were found in mandibular plane angles (P < .05), upper and lower incisor measurements (P < .05), anterior (P < .001) and posterior (P < .05) face heights, and ramus height (P < .01), as well as a significant increase in the soft tissue convexity angle (P < .05) among the hypodontia groups and control group. These differences were more excessive in the severe hypodontia group. Upper lip-E plane measurements were significantly longer in the mandible group than in the maxilla group (P < .01).Conclusions:Patients with congenitally missing teeth have different craniofacial morphologies. The severity and location of missing teeth have a significant effect.     

Perioperative outcomes after totally robotic gastric bypass: a prospective nonrandomized controlled study

Background

Perioperative short-term outcomes could be improved after totally robotic Roux-en-Y gastric bypass (TR-RYGBP) compared with conventional laparoscopic gastric bypass.

Methods

This is a nonrandomized controlled prospective study (N = 200) to evaluate perioperative short-term outcomes. The primary endpoint was to investigate risk factors for 30-day surgical complications.

Results

Mean total operative time was shorter in patients who underwent TR-RYGBP (130 vs 147 minutes; P < .0001). However, postoperative surgical complications rate (13% vs 1%; P = .001), and mean overall hospital stay (9.3 vs 6.7 days; P < .0001) were higher after TR-RYGBP. By multivariate analysis, robotic surgery (hazard ratio [HR] = 15.1; 95% confidence interval [CI], 2.8 to 280; P = .01), and conversion to laparotomy (HR = 18.8; 95% CI, 1.7 to 250.8; P = .014) were independent risk factors for 30-day surgical complications.

Conclusions

Although robotic gastric bypass reduces mean operative time, TR-RYGBP is associated with an increased postoperative surgical complications rate and longer hospitalization.