Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.     

Effect of chitosan nanoparticle,QMix, and EDTA on TotalFill BC sealers’ dentinal tubule penetration: a confocal laser scanning microscopy study

Odontology - The aim of the present study was to compare the effect of chitosan nanoparticle, QMix, and 17% EDTA on the penetrability of a calcium silicate-based sealer into dentinal tubules using...     

Phytoremediation of Water Polluted by Thallium,Cadmium, Zinc,and Lead with the Use of Macrophyte Callitriche cophocarpa

The objective of the present work was to study the phytoremediation capacity of Callitriche cophocarpa concerning water contaminated with thallium (Tl), cadmium (Cd), zinc (Zn), and lead (Pb) derived from the natural environment. We found that after a 10-day incubation period, shoots of C. cophocarpa effectively biofiltrated the water so that it met (for Cd, Zn, and Pb) appropriate quality standards. The order of accumulation of the investigated elements by shoots (mg kg^?1 dry weight) were as follows: Zn (1120) < Tl (251) < Cd (71) < Pb (35). The order of bioconcentration factors were as follows: Cd (1177) < Tl (1043) < Zn (718) < Pb (597). According to Microtox bioassay, C. cophocarpa significantly eradicated polluted water toxicity. During the experiment, the physiological status of plants was monitored by taking measurements of photosystem II activity (maximum efficiency of PSII, photochemical fluorescence quenching, nonphotochemical fluorescence quenching, and quantum efficiency of PSII), photosynthetic pigment contents, and shoot morphology. Plants exposed to metallic pollution did not exhibit significant changes in their physiological status compared with the control. This work is potentially applicable to the future use of C. cophocarpa in the phytoremediation of polluted, natural watercourses.     

Prenatal diagnosis and postnatal outcome of fetal intracranial hemorrhage

Background

The aim of this study was to present our experience with six cases of fetal intracranial hemorrhage (ICH) in terms of prenatal diagnostic features, and postnatal outcome.

Methods

The database of prenatal diagnosis unit was searched for antenatally diagnosed ICH cases. Maternal characteristics, ultrasound (US), and magnetic resonance imaging (MRI) findings, clinical course, and postnatal outcome were noted.

Results

We evaluated six consecutive cases of fetal ICH. One case was terminated at 24 weeks, and remaining five cases were delivered between 34 and 38 weeks. Five cases (5/6) had intraventricular, and one (1/6) had intraparenchymal hemorrhage. Hemorrhages were right sided in five cases (5/6), left sided in one case (1/6). Dilated and echogenic ventricular wall were the common US findings. No predisposing factor was detected in four of the cases, and intrauterine growth restriction was an underlying factor in two fetuses. Intrauterine progression of the hydrocephaly, and parenchymal thinning was seen in four cases (4/6). In three of four cases (3/4) with progressive grade 3–4 hemorrhage and hydrocephaly, postnatal outcome were dismal, and one case had mild neurological impairment at three months. In one case which had non-progressive mild ventriculomegaly, the lesion regressed after 4 weeks, and had normal short-term outcome

Conclusion

Fetal ICH can be accurately identified and categorized by antenatal sonography, and fetal MRI. Although intrauterine regression or normal short-term postnatal outcome is possible, the outcome is usually poor for fetuses with high grade and/or progressive lesions. Therefore, further studies assessing long-term postnatal outcome are needed     

Vesico-cutaneous fistula: unusual complication after transobturator mid-urethral sling

The transobturator tape (TOT) procedure was described in 2001 as the safest sling technique for the treatment of stress urinary incontinence (SUI). Although routine intraoperative cystoscopy to detect bladder and urethra injuries after the TOT procedure is not usually advocated, when such perforations do occur, there is potential for further patient morbidity. We present a case report of a vesico-cutaneous fistula detected after placement of a TOT sling in a 44-year old woman, 3 months postoperatively. Cystoscopic evaluation after mid-urethral sling procedures, especially in high-risk situations such as patients with cystocele, previous pelvic floor surgery or during the learning curve of the procedure, may avoid such complications associated with unrecognized lower urinary tract injuries.     

Altered mitochondrial metabolism in the insulin‐resistant heart

Obesity‐induced insulin resistance and type 2 diabetes mellitus can ultimately result in various complications, including diabetic cardiomyopathy. In this case, cardiac dysfunction is characterized by metabolic disturbances such as impaired glucose oxidation and an increased reliance on fatty acid (FA) oxidation. Mitochondrial dysfunction has often been associated with the altered metabolic function in the diabetic heart, and may result from FA‐induced lipotoxicity and uncoupling of oxidative phosphorylation. In this review, we address the metabolic changes in the diabetic heart, focusing on the loss of metabolic flexibility and cardiac mitochondrial function. We consider the alterations observed in mitochondrial substrate utilization, bioenergetics and dynamics, and highlight new areas of research which may improve our understanding of the cause and effect of cardiac mitochondrial dysfunction in diabetes. Finally, we explore how lifestyle (nutrition and exercise) and pharmacological interventions can prevent and treat metabolic and mitochondrial dysfunction in diabetes.     

Clinical comparison between the bleaching efficacy of light‐emitting diode and diode laser with sodium perborate

The aim of this clinical study was to test the efficacy of a light‐emitting diode (LED) light and a diode laser, when bleaching with sodium perborate. Thirty volunteers were selected to participate in the study. The patients were randomly divided into two groups. The initial colour of each tooth to be bleached was quantified with a spectrophotometer. In group A, sodium perborate and distilled water were mixed and placed into the pulp chamber, and the LED light was source applied. In group B, the same mixture was used, and the 810 nm diode laser was applied. The final colour of each tooth was quantified with the same spectrophotometer. Initial and final spectrophotometer values were recorded. Mann–Whitney U‐test and Wicoxon tests were used to test differences between both groups. Both devices successfully whitened the teeth. No statistical difference was found between the efficacy of the LED light and the diode laser.