Investigation of the effects of in ovo taurine injection on hatching characteristics and stress reduction potential.

BACKGROUND: In ovo application is the process of administering some nutrients or components into the egg. The main purpose of this application is to ensure that some nutrients are provided to chicks with a short incubation period. Few studies were conducted with taurine in fertile eggs; especially, no observation of hatchability and chick quality has been found. In addition, taurine has an anti-stress impact that fights oxidative factors. OBJECTIVE: To assess the hatchability and chick quality after in ovo taurine administration. To determine the stress that may occur as a result of in ovo application and whether taurine has a stress-reducing effect. METHODS: A total of 1200 fertile eggs from a 34-week-old broiler breeder (Ross 308) flock were categorized into 4 groups with 75 eggs per replicate: control (uninjected), taurine group (0.30 mL dissolved taurine in distilled water), sham control (sterile distilled water) and perforation (eggs perforated and then waxed). On day 14 of incubation, an in ovo injection was administered to the albumen. Data on hatching parameters and hepatic HSP70 levels were obtained using relevant formulas and western blotting, respectively. RESULTS: Control chicks exhibited higher hatchability than other groups, with the taurine group showing the lowest hatchability. The HSP70 levels were the highest in the perforation group compared to the control group. An increase of 21.37% in the taurine group and 83.45% in the sham control group was observed compared to the control group. CONCLUSIONS: The findings suggest that in ovo application may induce increased stress, whereas taurine may have positive effects in mitigating the stress caused by in ovo application.

A DNA Extraction Method for Nondestructive Testing and Evaluation of Cotton Seeds (Gossypium L.).

Kernels of cotton provide lint and linter for textiles, oil and protein for food and feed. Cotton seed is formed following fertilization between an ovule and a pollen grain. The seed coat is maternal in origin, whereas the embryo and attached cotyledonary leaves are hybrids of parental lines. The extraction of genomic DNA from an ungerminated whole, a portion or mixed seeds are prerequisite in genetic and genomic studies of cotton. As far as our knowledge, there is only one method of nondescriptive DNA extraction from ungerminated cotton seeds without affecting the seed germination capability, but it has technical difficulties and requires special equipment. Furthermore, the amount of DNA extracted using the published method is low and, therefore, it is only suitable for routine marker assisted selection studies. In this study, a DNA extraction protocol referred to as the CTAB-LiCl was developed for single whole cotton seed, a portion of cotton seed and bulked cotton seeds. This protocol uses a combination of CTAB and LiCl to lyse cells and deplete RNAs simultaneously. The CTAB-LiCl DNA extraction method was evaluated in ninety-six individuals of six different cotton cultivars along with two genetic standards of cotton, TM-1 (G. hirsutum L.), Pima 3-79 (G. barbadense L.), and several other plant species of different plant genera. Results revealed that this method produced high quality and amounts of DNA as confirmed by spectrophotometry, agarose gel, restriction enzyme digestion, polymerase chain reaction, and library production for next generation sequencing studies of whole genome bisulfite sequencing. It does not require the use of liquid nitrogen, RNase, proteinase K, or beta-mercaptoethanol and can be completed in approximately 2 h. Small tissues of the chalaza ends of ungerminated cotton seeds could be used to obtain high quality and quantity of DNA ranging from 14 to 28 µg without affecting the seeds' germination ability, allowing marker-assisted selection before planting and flowering.

Impostor phenomenon and burnout syndrome among emergency physicians: a cross-sectional study.

INTRODUCTION: This study examined emergency physicians across the country in terms of Impostor Phenomenon (IP) and Burnout Syndrome (BoS). We aimed to evaluate the possible relationship between IP and BoS and determine which demographic characteristics pose a risk for IP and BoS. METHODS: This quantitative cross-sectional study consists of Clance Impostor Phenomenon Scale (CIPS) and Maslach Burnout Inventory (MBI) which were filled out online by the participants. A total of 389 volunteers participated in the study. RESULTS: The median age of participants was 30 years (Q1-Q3=27-35) and 57.3% (223) of them were male. The frequency of significant/intense IP was higher in women (28.9%) than in men (17%) (p=0.020). High emotional exhaustion and low personal accomplishment were more common in women than in men (71.7% vs 60.6% and 50% vs 31%, respectively). The median age of participants classified as none to mild IP was 34 years. It was 28 years in significant/intense IP. It was detected that the severity of IP increased as the participants got younger (p<0.001). Significant/intense IP was most common in residents (29%). The residents also had the highest frequency of depersonalization (73.5%). The frequency of moderate to intense IP was the least in participants who worked at a university hospital (74.6%). CONCLUSION: The results of this study indicated that IP and BoS are more common in residency. The increased frequency of IP and BoS in young female physicians may be attributed to hierarchical working arrangements and worry about academic performance. Experienced physicians with high levels of academic self-consciousness exhibited a low frequency of IP. Additionally, this study identified a moderate correlation between IP and BoS.

Usability of EtCO2 values in the decision to terminate resuscitation by integrating them into the TOR rule (an extended TOR rule): A preliminary analysis.

Objective: End tidal carbon dioxide (EtCO2) is measured to confirm the placement of an endotracheal tube and evaluate the efficacy of cardiopulmonary resuscitation (CPR), and as an assistive tool for terminating CPR. However, there are no highly accurate or definitive recommendations for its use when deciding on the termination of CPR. We aimed to merge EtCO2 values with existing termination of resuscitation (TOR) rules to obtain a more accurate combination for terminating resuscitation. Methods: This observational, prospective study included non-traumatic adult patients who were admitted to a tertiary university hospital Emergency Medicine Department due to cardiac arrest. EtCO2 cutoff values (at 5, 10, and 20 min) were integrated into currently used TOR parameters (arrest was not witnessed, no bystander CPR was provided, no return of spontaneous circulation (ROSC) after full advanced life support care in the field, and no shock was delivered) and the extended TOR rule was created. These extended TOR rules were compared at three different times (5, 10, and 20 min) for specificity and positive predictive value for ROSC. Results: We included a total of 86 cases. The cutoff value of EtCO2 from ROC analysis was 19.5, 23.5, and 20.5 mmHg at 5, 10, and 20 min, respectively. "The extended TOR rule created with the 20-min EtCO2 cutoff (20.5 mmHg) was the most accurate in detecting ROSC (-) patients. The specificity was 100% (95% CI 63.1-100.0) sensitivity was 20.0% (95% CI 9.1-35.7), positive predictive value was 100% and negative predictive value was 20.0% (95% CI 17.6-22.6) for ROSC (-) patients. The parameters of this rule were as follows: arrest was not witnessed, no bystander CPR was provided, no ROSC after full advanced life support care in the field, no shock was delivered, and EtCO2 value at 20 min of resuscitation <20.5 mmHg. Conclusions: Integration of EtCO2 values into the classically used TOR criteria increases the specificity to 100% without a significant decrease in sensitivity. These results need to be validated in larger groups before this rule is used clinically. EtCO2 seems to be a beneficial tool in establishing new TOR rules.

Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering.

Cell transplants in therapeutic studies do not preserve their long-term function inside the donor body. In mesenchymal stem cell (MSC) transplants, transplanted cells disperse through the body and are prone to degradation by immune cells after the transplant process. Various strategies, such as usage of the immunosuppressive drugs to eliminate allograft rejection, are designed to increase the efficiency of cell therapy. Another strategy is the construction of biomimetic encapsulates using polymeric materials, which isolate stem cells and protect them from environmental effects. In this study, fibroblasts (L929) and MSCs were investigated for their improved viability and functionality once encapsulated inside the alginate microbeads under in vitro conditions for up to 12 days of incubation. Thus, uniform and injectable (<200 µm) cell-loaded microbeads were constructed by the electrostatically assisted spraying technique. Results showed that both L929 and MSCs cells continue their metabolic activity inside the microbeads during the incubation periods. Glucose consumption and lactic acid production levels of both cell lines were consistently observed. The released cell number on day 12 was found to be increased compared to day 0. Protein expression levels of both groups increased every day with the expected doubling rate. Hence, this strategy with a simple yet clever design to encapsulate either MSCs or L929 cells might outstand as a potential cell delivery platform for cell therapy-based tissue engineering.

Comparative Analysis of Perfusion Index and End-Tidal Carbon Dioxide in Cardiac Arrest Patients: Implications for Hemodynamic Monitoring and Resuscitation Outcomes.

BACKGROUND: During cardiopulmonary resuscitation (CPR), some parameters (e.g., intraarterial pressure measurement and end-tidal carbon dioxide (EtCO2)) indicate the quality and outcome of resuscitation. These parameters are generally based on monitoring the hemodynamic status. Perfusion index (PI) is a calculation from the photoplethysmography (PPG) signal and displays the proportion of pulsatile to non-pulsatile light absorption or reflection in the PPG signal. It helps to evaluate cardiac output and tissue perfusion in the care of a critical patient. Its most important advantages are that it can be easily measured with a pulse oximeter probe attached to the finger (non-invasive), can be objectively repeated, can be applied quickly, and is inexpensive. Normal PI values range from 0.2% to 20%. Despite being recognized as a valuable indicator of hemodynamics, there is limited information regarding its relevance in patients experiencing cardiac arrest. Although the PI is known to be a valuable parameter to indicate hemodynamics, information about its value in cardiac arrest patients is limited. This study aims to evaluate the performance of PI and EtCO2 in predicting the return of spontaneous circulation (ROSC) among cardiac arrest patients. METHODS: This was a single-center, prospective, observational clinical study including both out-of-hospital and in-hospital adult cardiac arrest patients. The study was conducted from November 1, 2018 to April 30, 2019 at the Emergency Department (ED) of the Hacettepe University Hospital, Ankara, Turkey. The EtCO2 values of the patients were recorded at the time they were intubated (t0) and every five minutes (t5, t10, t15...) during CPR. Along with these measurements, PI values were measured with the Masimo Signal Extraction Technology device (Masimo, California, United States). The study's primary outcome was PI's performance in predicting the ROSC among cardiac arrest patients. The secondary outcomes of the study were the performance of EtCO2 in predicting the ROSC among cardiac arrest patients and the association between PI and EtCO2 values. RESULTS: We included a total of 100 cases. The mean age of patients was 70.4 ± 13.4 years, and 65% were male. The ROSC was achieved in 29 patients. There was no statistical difference in PI values between the ROSC (+) and ROSC (-) groups at any minute. However, in the ROSC (+) group, EtCO2 values were observed to be high starting from the fifth minute (t5, p=0.010; t10, p<0.001; t15, p=0.014; t20, p=0.033; t25, p=0.003, respectively). There was no correlation between the PI and EtCO2 values at 0, 5, 10, 15, 20, and 25 minutes (t0, p=0.436; t5, p=0.154; t10, p=0.557; t15, p=0.740; t20 p=0.241; t25 p=0.201, respectively). CONCLUSION: Measuring PI values during resuscitation in intubated cardiac arrest patients does not help clinicians predict the outcome. In addition, no correlation was found with EtCO2 values. However, EtCO2 values remained high in patients with the ROSC from the fifth minute onward. Further larger-scale studies are needed regarding the optimal use of PI in cardiac arrest patients.

Comparison of ICSI and conventional IVF in non-male factor patients with less than four oocytes.

BACKGROUND: We aimed to analyse our clinical results for a particular subgroup of patients with poor ovarian response (POR) to clarify if lower number of oocytes is a drawback for proceeding to C-IVF. MATERIALS AND METHODS: In this retrospective study, patient files of all couples (#1733) who underwent oocyte retrieval between January 2017 and December 2019 were reviewed and 191 cases diagnosed with non-male factor infertility in which ≤ 3 cumulus-oocyte complexes available for fertilisation were analysed. Exclusion criteria were: woman age > 42, patients with a history of previous ART trial, prenatal genetic testing cycles and couples undergoing total cryopreservation for any indication. Three groups were constructed depending on the method of fertilisation and on semen quality as follows: IVF non-male factor (Group 1, n = 77); ICSI non-male factor (Group 2, n = 65); ICSI male factor-ICSI/MF n = 49 according to WHO reference values. Main outcome parameters were: fertilisation rate, implantation rate and live birth rate. RESULTS: Fertilisation rate per collected COC was significantly higher in group 1 compared to the other two groups (85.68%, 72.58%, 73.33% respectively, p = 0.004). FR per inseminated oocyte also tended to be higher in group 1 but not reaching a statistically significant level. Both techniques yielded similar implantation rates (20.42%, 28.49%, 23.33% respectively, p = 0.407) and live birth rates (26.8%, 30.6%, 31.1%, respectively, p = 0.643). CONCLUSION: In the presence of normal semen parameters, low egg number is not an indication to perform ICSI. The choice of fertilisation method should be based primarily on semen quality, in combination with the patient's previous history regardless of the ovarian reserve.

Correlation of Preoperative Serum and Intraoperative Peritoneal Lavage Fluid Ca-125 Levels with Postoperative Tumor Histology in Patients with Endometrial Cancer: A Prospective-Controlled Study.

BACKGROUND: The role of Ca-125 in endometrial cancer is not fully known. Some authors have reported high Ca-125 levels in patients with recurrent or advanced endometrial cancer, whereas others have stated that Ca-125 levels and the advance of the disease were not correlated in endometrial cancer. This makes it inevitable for clinicians to search for different measurement methods or interpretation of the present tumor markers. The aim of this study was to evaluate the relationship between Ca-125 values of the serum and abdominal lavage fluid and postoperative histopathological parameters in patients with endometrial carcinoma. METHODS: The study included patients who were diagnosed with endometrial cancer in the Gynecology Clinic and were planned to undergo surgery. The correlations of clinicopathological parameters with preoperative values of Ca-125 measured from serum and abdominal lavage fluid were investigated. The Spearman correlation test was applied in the analysis of correlations of serum and abdominal lavage fluid Ca-125 values with postoperative tumor characteristics. RESULTS: The serum Ca-125 values were determined to be positively correlated with surgical stage, tumor diameter, and lymph node involvement (p = 0.03; p = 0.04; and p = 0.01, respectively). No correlation was determined between tumor grade and serum Ca-125 level. The level of Ca-125 in the abdominal lavage fluid was observed to be correlated with surgical stage and tumor grade, but not with tumor diameter or lymph node involvement (p = 0.01, p = 0.04, respectively). CONCLUSIONS: The value of Ca-125 in the abdominal lavage fluid has a positive correlation with the surgical stage and tumor grade in patients with endometrial carcinoma.

Performance of neutrophil to lymphocyte ratio for the prediction of long-term morbidity and mortality in coronary slow flow phenomenon patients presented with non-ST segment elevation acute coronary syndrome.

Introduction: In this study, we aimed to determine if neutrophil to lymphocyte ratio could predict long term morbidity and mortality in patients who hospitalized for non-ST segment elevation acute coronary syndrome (NSTE-ACS) and had coronary slow flow on coronary angiography. Methods: In this observational study, 111 patients who presented with NSTE-ACS and diagnosed with coronary slow flow phenomenon on angiographic examination were included. Neutrophil to lymphocyte ratio (NLR) calculated as the ratio of the number of neutrophils to the number of lymphocytes. Patients classified into three groups according to NLR values. The term coronary slow flow phenomenon was depicted by calculating Thrombolysis in Myocardial Infarction frame count.Patients were followed up and the occurrence of recurrent angina, recurrent myocardial infarction, and long-term mortality was determined using medical records, phone calls, or face-to-face interviews. P values <0.05 considered to indicate statistical significance. Results: Recurrent angina and myocardial infarction occurred more frequently in the highest NLR tertile compared with middle and lowest NLR tertiles. High NLR group (NLR≥ 3.88 n=38) was significantly associated with younger age and smoking status. WBC, troponin I and CRP levels increased as the NLR tertile increased. Recurrent myocardial infarction and angina showed strong relationship with increasing NLR values. In multivariate regression analyses smoking and high NLR levels were independent predictors of recurrent myocardial infarction (HR:4.64 95%CI 0.95-22.52 P=0.04, HR: 1.48 95%CI 1.16-1.90 P<0.01 respectively) in the long term follow up. Conclusion: Our study demonstrated that high NLR values can be a valuable prognostic tool in the long term follow up of patients who presented with NSTE-ACS and diagnosed with slow flow phenomenon on coronary angiography.

Tissue and/or developmental stage specific methylation of nrDNA in Capsicum annuum.

The nuclear ribosomal DNA (nrDNA) sequences are often used for phylogenetic analysis among organisms. Because DNA cytosine methylation and nucleolar dominancy are two common epigenetic mechanisms of nrDNA, we hypothesized that internal transcribed spacer 1 (ITS1), 5.8S rRNA and ITS2 of nrDNA sequences could be used as epigenetic biomarkers. Thus, this research was undertaken to study level and pattern of site-specific cytosine methylation of ITS1, 5.8S and ITS2 in nine tissues and/or developmental stage of pepper Capsicum annuum L. cultivar Demre Sivrisi. Tissues studied consisted of young and old roots at 30 and 90 days after sowing (das), mature dry seeds and seeds at 26 days of post anthesis (dpa), flowering buds at 1 day before flowering, pericarps at 3, 15 and 65 dpa. Levels and patterns of DNA cytosine methylation were identified at single base resolution using bisulfite conversion sequencing. Results of this study revealed that DNA cytosine level and pattern of ITS1, 5.8S and ITS2 were different in most tissues and/or developmental stages studied. In addition, methylation levels of CG, CHG and CHH contexts were also significantly different among the regions. Based on the findings of this study, it was concluded that high level of methylation of nrDNA sequences was relatively higher as observed in transposable element and promoter. On the other hand, its tissue-specific gene expression was effective as that of gene body and promoter methylation. Overall findings revealed that methylation levels of nrDNA could be used as biomarkers for tissue identification or age estimation in plants.

Interspecific grafting between Gossypium hirsutum, G. barbadense and G. herbaceum lines.

Seedling grafting could provide additional crop improvement strategies for cotton. However, there existed limited studies on interspecific grafting and approaches. Four different grafting approaches were developed and compared between lines representing three of the four cultivated cotton species G. hirsutum, G. barbadense and G. herbaceum. Grafting approaches of this study focused on the cotyledon node and cotyledon leaves retained on scions, rootstocks, without cotyledon node and cotyledon leaves on scions and rootstocks or halved cotyledon node and single cotyledon leaf on scions and rootstocks. Evaluations of the grafting approaches were made by comparing survival and growth rate during the second and fifth weeks after transplantation, respectively. The formation of any lateral shoots at the grafted sites were studied in two of four grafting approaches in the first and the second year during flowering stage. DNA alterations due to grafting were investigated using microsatellite markers. There were no statistically significant differences between grafts and their control in survival rate and locus specific DNA alteration. Growth rate and lateral shoot formation, on the other hand, were different among grafting types and grafts. We concluded that grafting without cotyledon node and cotyledon leaves on rootstocks, and with cotyledon node but without cotyledon leaves on scions were easy to perform and suitable for interspecific cotton grafting. Results suggested that grafting seedlings and allowing time to heal graft wounds prior to spring transplanting or double cropping is suitable for wheat-cotton intercropping to prevent late or early chilling damage associated with seed sowing or conventional transplanting of susceptible seedlings. Furthermore, the rapid and consistent wound healing in seedling grafts along with lateral shoot formation occurring in two of four grafting approaches make them a suitable approach to investigate possible genetic and epigenetic movement between scions and rootstocks, especially across species.

Phenotypic and Molecular Characterization of Risk Loci Associated With Asthma and Lung Function.

PURPOSE: Respiratory diseases have a highly multifactorial etiology where different mechanisms contribute to the individual's susceptibility. We conducted a deep characterization of loci associated with asthma and lung function by previous genome-wide association studies (GWAS). METHODS: Sixteen variants were selected from previous GWAS of childhood/adult asthma and pulmonary function tests. We conducted a phenome-wide association study of these loci in 4,083 traits assessed in the UK Biobank (n = 361,194 participants). Data from the Genotype-Tissue Expression (GTEx) project were used to conduct a transcriptomic analysis with respect to tissues relevant for asthma pathogenesis. A pediatric cohort assessed with the International Study of Asthma and Allergies in Children (ISAAC) Phase II tools was used to further explore the association of these variants with 116 traits related to asthma comorbidities. RESULTS: Our phenome-wide association studies (PheWAS) identified 206 phenotypic associations with respect to the 16 variants identified. In addition to the replication of the phenotypes tested in the discovery GWAS, we observed novel associations related to blood levels of immune cells (eosinophils, neutrophils, monocytes, and lymphocytes) for the asthma-related variants. Conversely, the lung-function variants were associated with phenotypes related to body fat mass. In the ISAAC-assessed cohort, we observed that risk alleles associated with increased fat mass can exacerbate allergic reactions in individuals affected by allergic respiratory diseases. The GTEx-based analysis showed that the variants tested affect the transcriptomic regulation of multiple surrounding genes across several tissues. CONCLUSIONS: This study generated novel data regarding the genetics of respiratory diseases and their comorbidities, providing a deep characterization of loci associated with asthma and lung function.

A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio.

Backgrounds Limitations in the evaluation of the pituitary size and changes according to pubertal status make its validity questionable. Recently, in a small-scale study, pons ratio (PR) has been suggested as a more sensitive tool for diagnosis and etiological evaluation of growth hormone deficiency (GHD). The aim of the study is to evaluate the diagnostic value of PR in the diagnosis of GHD. Methods We retrospectively evaluated the pituitary magnetic resonance imaging (MRI) of 133 patients with a diagnosis of GHD. Primary axis (PA) was assigned as a line crossing the mid-sagittal dorsum sella and fourth ventricle. PR was defined as the pons height above the PA divided by total pons height. The PR of patients with GHD was compared to subjects without GHD. Results Study included 133 patients with GHD and 47 controls. In total, 121 (91%) patients had isolated GHD and 12 (9%) patients had multiple pituitary hormone deficiency. The PR of the patient group (mean: 0.32 ± 0.89; range: 0.14-0.63) was significantly higher than controls (mean: 0.26 ± 0.067; range 0.19-0.44) (p: 0.000). The optimal cut-off value of PR for GHD diagnosis was 0.27 (sensitivity 71% specificity 56%). There was a negative correlation between anterior pituitary height (APH)-SDS and PR (p: 0.002; r: -0.27). APH was increased, but PR remained unchanged in pubertal patients (p: 0.089). Conclusions PR measurement is a noninvasive, practical method with a cost-benefit clinical value. As it is not affected by pubertal status, PR is potentially a more sensitive tool for evaluation of pituitary gland in GHD patients compared to APH.

Molecular characterization of the Pratylenchus vulnus populations on cereals in Turkey.

Pratylenchus vulnus (walnut root lesion nematode) is one of the most damaging root lesion nematode species worldwide. In this study, 17 populations of P. vulnus obtained from wheat and barley cultivated fields in 2016 to 2017 in Turkey (Karaman and Konya provinces) were identified using real-time PCR and melting curve analysis. Samples provided a single peak at 87.3˚C with real-time PCR. D2 to D3 expansion segments of the 28S rRNA of one population from Cihanbeyli district in Konya province was sequenced and recorded in GenBank (Accession number: MT320536.1). Alignments of the population was identical 98.66% to the populations of P. vulnus available in GenBank (Accs. nos: LT985479.1 and LT965052.1) and 98.65% (Accs. nos: KY424305.1 and KY424304.1).

[A case with scalp pruritus caused by Dermanysus gallinae (order: mesostigmata)]. / Dermanysus gallinae'nin (Takim: mesostigmata) neden oldugu saçli deride kasintili olgu.

Dermanyssus gallinae is one of the important hematophagous ectoparasite species of poultry like chicken, pigeon and wild bird species. These ectoparasites in the form of nymphs or adults who can not find their hosts are also seen in mammals and even in humans. For this reason, they are considered as important for public health. The ectoparasite causes a clinical condition named gamasoidosis among pet owners and people who live or work close to animal shelters, barns and chicken farms. Pruritus dermatitis is also caused by D.gallinae in humans and can cause false diagnosis. In this report, a case of D.gallinae which leads to severe itch in the hairy head skin was presented. A 66-year-old female patient admitted to University Hospital with complaints of "bugs in her hair and itching of the skin increasing in the evenings" that have persisted for a month. In the dermatological examination of the patient, it was noted that her hair and scalp were usual. Routine laboratory tests were normal. However, a large number of mites were found in her headscarf that she brought with her to the examination. Later, it was learned that the patient feeds chicken in her garden in the village where she lives. The collected mite samples were were kept in glass test tubes that contained glycerol and alcohol. The mites were identified as D.gallinae by morphological identification with light microscopy by using 10x, 20x and 40x magnifications. The mites were described as D.gallinae (Order: Mesostigmata, local name: poultry red mite, perch mite, poultry mite) with the morphological examination. Long-acting 1% permethrin shampoo was applied to remove the mites on the patient and during the controls, it was changed as 5% permethrin and 10% crotamiton lotion. For environmental sanitation, carbamates (such as carbolineum, trichlorfon, malathion, tetrachlorvinphos, etc.), organophosphates and acaricide insecticides with pyrethroids spraying or powder formulations were recommended. It was recommended to repair the slits and cracks where the parasite in the shelter could be stored. The patient was informed on (i) how to clean the household items with susceptible acaricides, (ii) removal of unused infected animal shelters, cages and nests from human habitat, (iii) raising of ambient temperature above 45°C, (iv) ventilation of the living spaces and (v) washing the clothes with detergent. In order to be effectively protected from the risk of infection and the detriments that are brought by this parasite, it is imperative to stay away from the hosts and the infected areas such as chicken farms, to obey the hygiene regulations, and to properly conduct the disinfestation of the shelters. In addition, it is also helpful to receive a true story from the patient, with details of contact with birds for the protection and treatment.

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children.

To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma and Allergies in Children) Phase II tools. We investigated 9 loci involved in different immune functions (ADAM33, ADRB2, CD14, IL13, IL4, IL4R, MS4A2, SERPINE1, and TNF) with respect to 116 traits assessed through blood tests, hypertonic saline challenge tests, questionnaires, and skin prick tests. Multiple associations were observed for ADAM33: rs2280090 was associated with reduced MEF240% (i.e., the ratio of Mean Expiratory Flow after 240s of hypertonic saline inhalation with respect to the age- and ancestry-matched reference value) and with an increased risk of allergic bronchitis (p = 1.77*10(-4) and p = 7.94*10(-4), respectively); rs3918396 was associated with wheezing and eczema comorbidity (p = 3.41*10(-4)). IL4 rs2243250 was associated with increased FEV240 (Forced Expiratory Flow Volume after 240s of hypertonic saline inhalation; p = 4.81*10(-4)) and CD14 rs2569190 was associated with asthma diagnosis (p = 1.36*10(-3)). ADAM33 and IL4 appeared to play a role in the processes linked to allergic airway inflammation and lung function. Due to its association with wheezing and eczema comorbidity, ADAM33 may also be involved in the atopic march.

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

BACKGROUND/AIM: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge. MATERIALS AND METHODS: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was performed among family members to predict the pathogenic effect of novel mutations, and computational programs were used to predict their functional impact. RESULTS: Nine different mutations (c.494-1G>A, c.793-6C>G, c.793-5C>A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X) were identified. Computational analysis results supported the pathogenicity of novel mutations, suggesting improper splicing. Seven already-known polymorphisms were detected in the screened cohort as well. CONCLUSION: Our results revealed heterogeneity in the mutation spectrum of Turkish patients. Six of the mutations, including the novel ones, have never before been reported in the Turkish population. Moreover, 5 patients who were phenotypically diagnosed with MPS type I could not be confirmed by genetic analysis, indicating the importance of the molecular characterization of MPS subtypes.