Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.

Objectives: Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials. Methods: This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities. Results: By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases. Conclusion: The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.

The diagnostic role of preoperative blood tests in complicated appendicitis: A feasible approach to surgical decision.

Background: An accurate diagnosis and timely surgical intervention have significant importance in noncomplicated appendicitis (NCA) and complicated appendicitis (CA). Therefore, any factor that helps in the prediction of CA also contributes to suitable treatment options. Aim: This retrospective study aimed to identify any relationship between acute appendicitis (AA) and preoperative blood test levels and whether these parameters can differentiate between NCA and CA patients. Patients and Methods: A database of 201 appendectomies and 100 control healthy patients was analyzed between 2019 and 2022. Patients were divided into three groups: NCA without peritonitis or phlegmonous appendicitis as group 1; CA with perforated, necrotizing appendicitis with peritonitis as group 2; and the healthy control group (CG) as group 3. White blood cell (WBC), platelet distribution width (PDW), mean platelet volume (MPV), red cell distribution width (RDW), creatine kinase (CK), and bilirubin levels were collected from the patients and compared statistically between the groups. Results: Age, WBC, and PDW levels were set as predictive in the differential diagnosis of CA as a result of receiver operating characteristic (ROC) analysis. The multivariate analysis demonstrated that age (OR: 1.023; 95% CI: 1.000-1.045; P = 0.04), male sex (OR: 3.718; 95% CI: 1.501-9.213; P = 0.005), WBC levels (OR: 1.000; 95% CI: 1.000-1.000; P = 0.002), and PDW levels (OR: 2.129; 95% CI: 1.301-3.484; P = 0.003) were independently associated with CA. Conclusion: Age, higher WBC count, and PDW levels are valuable in differentiating the diagnosis of CA from NCA, and this could be a feasible approach for surgical decisions.

PUNICALAGIN AND PUNICALIN SUPPRESS THE ADIPOCYTE DIFFERENTIATION THROUGH THE TRANSCRIPTION FACTORS.

BACKGROUND: Pomegranate is a rich source of many polyphenolic compounds including ellagitannins (punicalagin, punicalin and others). AIM: The effects of punicalagin and punicalin on adipogenesis were investigated in this study. MATERIALS AND METHODS: To examine the effect of punicalagin and punicalin on adipocyte differentiation, various concentrations of punicalagin and punicalin (2-10 µM) were applied to differentiated 3T3-L1 cells. Glyceraldehyde-3-phosphate dehydrogenase (GPDH) activity, Oil red O staining, intracellular triglyceride levels, and gene expressions of transcription factors (Peroxisome proliferator-activated receptor-γ (PPARγ), CCAAT-enhancer-binding proteins-α (C/EBPα), Sterol regulatory element-binding protein 1c (SREBP-1c)) and lipolysis-associated genes (hormone-sensitive lipase (HSL), Perilipin A, tumor necrosis factor-α (TNF-α)) were examined in order to investigate the effects of punicalagin and punicalin on adipocyte differentiation. RESULTS: Punicalagin and punicalin applications caused a continuous decrease in cell size and intracellular triglyceride accumulation. GPDH activity and transcription gene expressions decreased significantly in groups that were applicated punicalagin and punicalin at high concentrations. Punicalagin, but not punicalin, down-regulated the expression of HSL and perilipin A and up-regulated the expression of TNF-α in a dose-dependent manner. In conclusion, both punicalagin and punicalin were able to inhibit the adipocyte differentiation.

Evaluation of oxidative stress in patients with recalcitrant warts.

BACKGROUND: Warts are benign conditions of the skin and mucosa caused by human papilloma viruses (HPV) that affect many people worldwide. OBJECTIVE: The aim of this study was to evaluate OS by TOS/TAS, levels of 8-hydroxy-2-deoxyguanosine (8-OHdG) an indicator of DNA damage, and also protein oxidation levels by determining the dynamic serum thiol/disulphide homeostasis in patients with warts. We also aimed to investigate whether there is a relationship between thiol/disulphide homeostasis, recalcitrance of warts and DNA damage. METHODS: Forty patients of age ≥18 years, having recalcitrant genital and/or non-genital warts that persisted for more than 2 years, 40 patients with warts that persisted for <2 years and 40 healthy controls were enrolled in the study. Blood TAS, TOS, OSI, 8-OHdG and dynamic thiol/disulphide homeostasis were evaluated. RESULTS: Significant differences were detected between the groups in the levels of 8-OHdG, TOS, OSI, total thiol, native thiol, reduced thiol, as well as native thiol/total thiol ratio, disulphide/total thiol ratio and disulphide/native thiol ratio. Compared with the controls, patients with recalcitrant warts had significantly higher levels of 8-OHdG, TOS and OSI levels. Total thiol and native thiol levels were significantly lower in patients with recalcitrant warts compared with patients with warts that persisted for <2 years. Disulphide levels were significantly higher in the latter group of patients compared with patients with recalcitrant warts and controls. Native thiol/total thiol ratio was significantly higher in both patient groups compared with controls whereas disulphide/total thiol and disulphide/native thiol ratios were significantly lower in both patient groups than in controls. CONCLUSION: Our findings suggest that impairment of thiol disulphide homeostasis in patients with recalcitrant warts may lead to increased OS and DNA damage. Thus, antioxidant administration with thiol containing proteins may help in the regression of warts and thereby prevent carcinogenesis.

Synergistic effects of quercetin and selenium on oxidative stress in endometrial adenocarcinoma cells.

OBJECTIVE: The effects of quercetin and selenium on oxidative stress in endometrial adenocarcinoma cells are unclear. In this study, the effects of quercetin and selenium on oxidative stress caused by both hydrogen peroxide and UV radiation in endometrial adenocarcinoma cells were examined. METHODS: The viability of endometrial adenocarcinoma cells cultured in vitro and treated with different concentrations of quercetin and sodium selenite was measured using the MTT assay. Malondialdehyde (MDA) levels were investigated, and expression levels of BAD and p53 genes were analysed using real­time quantitative polymerase chain reaction. Acridine orange/ethidium bromide staining technique was applied to detect apoptosis. Mass attenuation coefficient of each quercetin and sodium selenite combinations was evaluated using Monte Carlo simulation. RESULTS: The combination of quercetin and sodium selenite enhanced cell viability, and reduced MDA levels. The expression levels of BAD and p53 genes decreased by combined treatment with quercetin and selenium while showing synergistic effects in terms of gene expression. Fluorescent microscopic examination showed a decrease in apoptotic cells in endometrial adenocarcinoma cells treated with the combination of quercetin and selenium. CONCLUSIONS: For the first time, selenium and quercetin have synergistic cytoprotective and radioprotective effects on oxidative stress caused by hydrogen peroxide in endometrial adenocarcinoma cells for the first time (Tab. 1, Fig. 7, Ref. 39).

The effect of exposure to 1800 MHz radiofrequency radiation on epidermal growth factor, caspase-3, Hsp27 and p38MAPK gene expressions in the rat eye.

OBJECTIVE: Radiofrequency electromagnetic fields (RF-EMF) may induce DNA damage and oxidative stress in human lens epithelial cells (LECs). We aimed to investigate the expression levels of heat shock protein 27 (Hsp27), p38 mitogen-activated protein kinase (p38MAPK), epidermal growth factor receptor (EGFR) and caspase-3 gene expression levels in rat eye that was exposed to 1800 MHz RF-EMF. METHODS: Thirty-seven female Wistar albino rats were divided into three groups. The rats in the study group (n = 9) were exposed to 1800 MHz RF-EMF at an electric field 6.8 ± 0.1 V/m and 0.06 W/kg specific absorption rate (SAR) for 2 hours per day for eight weeks. Sham group (n = 9) was kept under similar conditions as the exposed group without exposure to RF-EMF. The rats in all three groups were sacrificed and their eyes were removed. Hsp27, p38MAPK, EGFR, caspase-3 gene expression levels were investigated in detail with real-time polymerase chain reactions (Real-Time PCR). RESULTS: caspase-3 and p38MAPK gene expression were significantly upregulated in the ocular tissues following exposure to RF-EMF (p < 0.05). CONCLUSION: According to our findings, eye cells recognize EMF as a stress factor, and in response, activate caspase-3 and p38MAPK gene expressions. These results confirm that RF-EMF can cause cellular damage in rat ocular cells (Tab. 2, Fig. 3, Ref. 37).

The effect of Resveratrol and Octreotide on peritoneal adhesions in a rat model.

INTRODUCTION: The aim of this study was to investigate the efficacy of resveratrol and octreotide, agents that are used to prevent intra-abdominal adhesions in experimental models, in preventing intraperitoneal adhesions when used alone or in combination. MATERIALS AND METHODS: The study employed 28 young female Wistar albino rats weighing 250-300 grams. An experimental adhesion model was created in each rat using serosal abrasion and peritoneal excision. They were divided into four groups, each comprising seven rats: Group 1, adhesion induction only; Group 2, resveratrol administration only; Group 3, octreotide administration only; and Group 4, administration of resveratrol and octreotide combination. The rats were monitored under appropriate conditions for 14 days and then underwent laparotomy. Macroscopic intensity and extensiveness of adhesions and microscopic changes in the granulation tissue (cellular intensity, reticular and collagen fibers, capillaries, elastic and smooth muscle fibers, fibrosis) were evaluated and graded. Kruskal-Wallis and Mann-Whitney U-test were used in statistical analysis and the level of statistical significance was established as p <0.05. RESULTS: There was no significant difference between the groups in terms of the intensity and extensiveness of macroscopic adhesions (p=0.377 and p=0.319). There was a statistically significant difference between the microscopic scores of the groups according to Zühlke's classification (p=0.026). The Bonferroni correction used to test for the differences revealed that the rats in Group 1 achieved significantly higher scores than the rats in Group 3 (p=0.016). CONCLUSION: Octreotide showed higher efficiency compared to the control group in microscopic classification; however, the two agents were not superior to each other or their combination was not superior in preventing intra-abdominal adhesions.

Effects of long-term heat stress and dietary restriction on the expression of genes of steroidogenic pathway and small heat-shock proteins in rat testicular tissue.

The aim was to investigate the effects of long-term heat stress and dietary restriction on the expression of certain genes involving in steroidogenic pathway and small heat-shock proteins (sHSPs) in rat testis. Sprague Dawley rats (n = 24) were equally divided into four groups. Group I and II were kept at an ambient temperature of 22°C, while Groups III and IV were reared at 38°C for 9 weeks. Feed was freely available for Group I and Group III, while Group II and Group IV were fed 60% of the diet consumed by their ad libitum counterparts. At the end of 9 weeks, testicles were collected under euthanasia. Total RNA was isolated from testis tissue samples. Expression profiles of the genes encoding androgen-binding protein, follicle-stimulating hormone receptor, androgen receptor, luteinising hormone receptor, steroidogenic acute regulatory protein (StAR), cyclooxygenase-2 and sHSP genes were assessed at mRNA levels using qPCR. Long-term heat stress decreased the expression of StAR and HspB10 genes while dietary restriction upregulated StAR gene expression. The results suggested that long-term heat stress negatively affected the expression of StAR and HspB10 genes and the dietary restriction was able to reverse negative effect of heat stress on the expression of StAR gene in rat testis.

Protective Effect of Intravesical Platelet-Rich Plasma on Cyclophosphamide-Induced Hemorrhagic Cystitis.

PURPOSE: Hemorrhagic cystitis (HC) is the most common urotoxic side effect of cyclophosphamide (CYP). Platelet rich plasma (PRP) plays an important role in wound healing and inflammatory responses. The aim of this study was to investigate the efficacy of intravesical PRP at treatment of interstitial cystitis (IC). MATERIAL-METHODS: Female rats (n=24) were used. IC was induced by intraperitoneal injection of cyclophosphamide (CYP). Rats were randomly allocated to one of four groups (n = 6 per group): a control group; a sham group with saline (75 mg/kg; i.p.) instead of CYP on day 1; a IC group, which was injected with CYP (150 mg/kg; i.p.) on day 1; and, a intravesical PRP­treated group which was injected with CYP (150 mg/kg; i.p.) on day 1. On day 2, the rats in each group were sacrificed under anesthesia. RESULTS: Histological evaluation showed that bladder inflammation in CYP­treated rats was not suppressed by PRP. CYP administration induced severe IC with marked edema, hemorrhage and inflammation in CYP and CYP+PRP groups, but PRP was not found to be effective to decrease these effects. CONCLUSION: The application of PRP could not reverse the histopathological changes in rats that had interstitial cystitis due to the cyclophosphamide injection.

Comparison of effects of static, proprioceptive neuromuscular facilitation and Mulligan stretching on hip flexion range of motion: a randomized controlled trial.

The aim of this study was to compare the effects of static stretching, proprioceptive neuromuscular facilitation (PNF) stretching and Mulligan technique on hip flexion range of motion (ROM) in subjects with bilateral hamstring tightness. A total of 40 students (mean age: 21.5±1.3 years, mean body height: 172.8±8.2 cm, mean body mass index: 21.9±3.0 kg · m(-2)) with bilateral hamstring tightness were enrolled in this randomized trial, of whom 26 completed the study. Subjects were divided into 4 groups performing (I) typical static stretching, (II) PNF stretching, (III) Mulligan traction straight leg raise (TSLR) technique, (IV) no intervention. Hip flexion ROM was measured using a digital goniometer with the passive straight leg raise test before and after 4 weeks by two physiotherapists blinded to the groups. 52 extremities of 26 subjects were analyzed. Hip flexion ROM increased in all three intervention groups (p<0.05) but not in the no-intervention group after 4 weeks. A statistically significant change in initial-final assessment differences of hip flexion ROM was found between groups (p<0.001) in favour of PNF stretching and Mulligan TSLR technique in comparison to typical static stretching (p=0.016 and p=0.02, respectively). No significant difference was found between Mulligan TSLR technique and PNF stretching (p=0.920). The initial-final assessment difference of hip flexion ROM was similar in typical static stretching and no intervention (p=0.491). A 4-week stretching intervention is beneficial for increasing hip flexion ROM in bilateral hamstring tightness. However, PNF stretching and Mulligan TSLR technique are superior to typical static stretching. These two interventions can be alternatively used for stretching in hamstring tightness.

Relationship of galectin-3 to left ventricular geometry and hypertrophy in chronic hemodialysis patients.

AIM AND BACKGROUND: Galectin-3 (Gal-3) is used to determine the prognosis of heart failure. Some studies revealed that Gal-3 promoted cardiac hypertrophy but there is no study in which the relationship between Gal-3 and left ventricular hypertrophy (LVH) geometry in patients without diastolic and systolic function impairment has been explored. The aim of the study was to analyze associations between plasma Gal-3 levels, LVH, and LV geometry in maintenance hemodialysis (HD) patients without systolic and diastolic dysfunction. PATIENTS AND METHODS: The study group included 105 patients (53 women and 52 men)--with an average age of 58.2 ± 12.6 years, treated with HD for an average of 45 ± 32 months--and 60 healthy controls. The Gal-3 and other biochemical parameters were measured and color Doppler echocardiography was performed. For this study LVH was considered present when the LV mass index (LVMI) exceeded 95 g/m(2) in women and 115 g/m(2) in men. Left ventricular geometry was classified into the four groups on the basis of left ventricular mass and relative wall thickness (RWT). RESULTS: Concentric hypertrophy (CH, 40.9 %, n = 43) was the commonest geometric pattern in our study. The Gal-3 levels in CH patients were not different from the patients with eccentric hypertrophy (EH). Plasma levels of Gal-3 correlated with LVMI (r = 0.617, p < 0.001), parathyroid hormone (PTH, r = 0.408, p < 0.001), uric acid (r = 0.281, p = 0.004), C-reactive protein (CRP, r = 0.412, p < 0.001), and RWT (r = 0.281, p = 0.004) but were inversely correlated with albumin (r = - 0.466, P < 0.001) in the whole group. Plasma levels of Gal-3 were associated with LVMI (r = 0.812, P < 0.001), RWT (r = 0.318, p = 0.001), and CRP(r = 0.381, p < 0.001) in maintenance hemodialysis patients. CONCLUSION: The Gal-3 level is related to left ventricular hypertrophy and it is independent of left ventricle geometry. The relationship between LVH and Gal-3 might be direct or it may also be inflammation-related.

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutations in ANTXR1 were reported to cause GAPO syndrome. In our study we performed whole exome sequencing (WES) for five affected individuals from three Turkish kindreds segregating the GAPO trait. Exome sequencing analysis identified three novel homozygous mutations including; one frame-shift (c.1220_1221insT; p.Ala408Cysfs*2), one splice site (c.411A>G; p.Gln137Gln), and one non-synonymous (c.1150G>A; p.Gly384Ser) mutation in the ANTXR1 gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix.

Thrombin activatable fibrinolysis inhibitor : its role in slow coronary flow.

BACKGROUND: The slow coronary flow (SCF) phenomenon is characterized by slow progression of angiographic contrast medium in the coronary arteries in the absence of stenosis in the epicardial vessels. The pathophysiological mechanisms of SCF phenomenon remain uncertain. Several hypotheses, however, have been suggested for SCF phenomenon, including an early form of atherosclerosis, small vessel dysfunction, dilatation of coronary vessels, imbalance between vasoconstrictor and vasodilatory factors, platelet function disorder, and inflammation. Atherosclerosis and inflammation are the most accepted mechanisms for the pathogenesis of SCF. Thrombin activatable fibrinolysis inhibitor (TAFI) was described as a new inhibitor of fibrinolysis recently and plays an important role in coagulation and fibrinolysis. In previous studies, the role of TAFI was associated with inflammation and evolution of atherosclerosis in coronary artery disease. There are no data available about TAFI levels in patients with SCF phenomenon investigated by angiography. Our goal was to evaluate TAFI antigen (Ag) levels in patients with SCF and to determine the association of the TAFI Ag level with traditional cardiovascular risk factors in our study. METHODS: The study group constituted 41 patients with angiographically confirmed SCF and 46 patients with normal coronary flow as the control group. The TAFI Ag levels of each patient were determined. RESULTS: Between the control and study group, a statistical difference in the levels of TAFI Ag (p < 0.05) was observed. The TAFI Ag level was significantly higher in the SCF group than the control group (132.21 ± 21.14 versus 122.15 ± 21.59). CONCLUSION: We have demonstrated that TAFI might be a risk factor for the development of SCF independently of conventional cardiovascular risk factors. In addition, TAFI Ag levels were positively correlated with C-reactive protein (CRP) known as an acute phase reactant. Our findings support the reports of previous studies that increased TAFI levels may be associated with inflammation. Further large studies are required to evaluate the importance of TAFI antigen levels in relation to the development of SCF.

The olive leaf extract attenuates bacterial translocation and liver damage in obstructive jaundice.

OBJECTIVES: The olive leaf extract (OLext) is known to possess many biological properties including a powerful antioxidant. This study aimed to investigate the protective effects of postoperative nutrition with OLext and glutamine on bacterial translocation (BT) and liver damage in obstructive jaundice. MATERIALS AND METHODS: Totally, 50 rats were randomly divided into the five groups of 10 each. The common bile duct was ligated in all animals, excepting in the group 1. Postoperative nutrition was given to all groups for ten days. The rats in the Group 1 and 2 were fed a normal diet, Group 3 rats were fed an additional glutamine (1 g/kg/day), and Group 4 and 5 rats were fed an additional OLext (1 ml of 1/2 diluted and pure form/kg/day). Biochemical, microbiological and liver histopathological changes were evaluated. RESULTS: BT in the Groups 3, 4, and 5 was significantly lower than in the Group 2. The values of aspartate transaminase (AST), alanine transaminase (ALT), γ-glutamyl transferase (γ-GT) and alkalen phosphatase (ALP) in blood were increased in obstructive jaundice, but the levels of these tests were statistically lower in glutamine and OLext groups when compared to the Group 2. Histopathological changes were observed low in the liver in OLext and glutamine groups. CONCLUSIONS: The present data has demonstrated that the supplementation of olive leaf extract and glutamine reduce the incidence of BT and liver damage in obstructive jaundiced rats (Tab. 4, Fig. 1, Ref. 23).

Author Correction: The clinical significance and diagnostic value of serum Dickkopf1 and CKAP4 levels in patients with gastric cancer: a prospective study.

Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (20): 10031-10040-DOI: 10.26355/eurrev_202310_34183-PMID: 37916373-published online on October 27, 2023. After publication, the authors found a mistake in Table I. Under Table I, the following sentence "HR: hazard ratio. CI: confidence interval. SCC: squamous cell carcinoma. FIGO: International Federation of Gynecology and Obstetrics. DFS: disease-free survival. OS: overall survival. p<0.05 and p<0.01 values were accepted for the significance level of the test" has been mistakenly inserted and must be removed. There are amendments to this paper. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/34183.

Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.

The epidermis, the outermost layer of the skin, serves as a protective barrier against external factors. Epidermal differentiation, a tightly regulated process essential for epidermal homeostasis, epidermal barrier formation and skin integrity maintenance, is orchestrated by several players, including signaling molecules, calcium gradient and junctional complexes such as gap junctions (GJs). GJ proteins, known as connexins facilitate cell-to-cell communication between adjacent keratinocytes. Connexins can function as either hemichannels or GJs, depending on their interaction with other connexons from neighboring keratinocytes. These channels enable the transport of metabolites, cAMP, microRNAs, and ions, including Ca2+, across cell membranes. At least ten distinct connexins are expressed within the epidermis and mutations in at least five of them has been linked to various skin disorders. Connexin mutations may cause aberrant channel activity by altering their synthesis, their gating properties, their intracellular trafficking, and the assembly of hemichannels and GJ channels. In addition to mutations, connexin expression is dysregulated in other skin conditions including psoriasis, chronic wound and skin cancers, indicating the crucial role of connexins in skin homeostasis. Current treatment options for conditions with mutant or altered connexins are limited and primarily focus on symptom management. Several therapeutics, including non-peptide chemicals, antibodies, mimetic peptides and allele-specific small interfering RNAs are promising in treating connexin-related skin disorders. Since connexins play crucial roles in maintaining epidermal homeostasis as shown with linkage to a range of skin disorders and cancer, further investigations are warranted to decipher the molecular and cellular alterations within cells due to mutations or altered expression, leading to abnormal proliferation and differentiation. This would also help characterize the roles of each isoform in skin homeostasis, in addition to the development of innovative therapeutic interventions. This review highlights the critical functions of connexins in the epidermis and the association between connexins and skin disorders, and discusses potential therapeutic options.

Evaluation of death pathway genes FAS and FASL polymorphisms in chronic HBV infection.

This study was designed to determine the possible asssociation between selected FAS and FASLG polymorphisms and Hepatitis B virus (HBV) infection. FAS-670 G/A, FAS-1377 G/A, FASLG-844 T/C and FASLG IVS2nt-124 A/G polymorphisms were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). A total of age and sex matched 108 controls and a hundred chronic HBV patients were recruited to conduct a case-control study. FAS-670 polymorphism was associated with chronic HBV infection (P = 0.03) FAS-1377 GG, GA and AA genotypes among the cases (90%, 5% and 5%, respectively) were significantly different from those among the controls (68%, 31.5% and 5.6%; P = 0.00). FASLG-844 allele distribution was similar between the groups (P = 0.17) but TC genotype (67.3%) was frequent in chronic HBV patients, while CC genotype was found significantly higher (29.6%) in controls. No association between FASLG IVS2nt-124 polymorphism and chronic HBV infection could be identified (P = 0.55). FAS-670 polymorphism is associated with chronic HBV infection, while FASLG IVS2nt-124 A/G polymorphism is not. The FAS-1377G/A and FASLG-844 T/C genotypes are likely to play a substantial role in HBV infection. Further studies evaluating polymorphisms in other genes related with apoptosis are needed to elucidate the role of genetic variation in HBV infection.

Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries.

Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1-5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.

Nosocomial outbreak of disseminated orf infection in a burn unit, Gaziantep, Turkey, October to December 2012.

We report the first outbreak of nosocomial orf infection in a hospital burn unit in Gaziantep, Turkey. The outbreak lasted from October to December 2012 and involved a total of thirteen cases. It demonstrates the risk of introduction of orf virus to a burn unit, and the potential for extensive transmission among patients with compromised skin integrity. The importance of hygiene measures and infection control are highlighted and possible transmission routes of the virus discussed.