Can prothrombotic gene variants and Apoa1 rs5069 polymorphism be the predictors of early myocardial infarctions?

Background/aim: We aimed to determine the genetic risk factors in patients aged 45 years and below with a history of early myocardial infarction (MI), compared to individuals over 60 years of age with no history of MI. Materials and methods: In this study, we selected different age groups to more clearly distinguish genetic differences. Accordingly, we compared individuals who had experienced MI at an early age with those who were older and had not experienced any cardiovascular events. The patient group consisted of 99 volunteers under the age of 45 with a history of MI, while the control group included 99 volunteers aged 60 and over without a history of MI. MTHFR (C677T, A1298C), Factor V Leiden (G1691A), Prothrombin (G20210A), PAI (4G/5G), Factor XIII (V34L), APOA1 (rs670, rs1799837, rs5069), and APOB were studied using blood samples taken from the patients. Results: In the logistic regression analysis of thrombophilia markers and gene polymorphisms in the patient and control groups, no statistically significant increase was observed in markers other than APOA1 rs5069 gene polymorphism. APOA1 rs5069 gene polymorphism was found to be higher in the patient group than those without this polymorphism. The frequencies of homozygous MTHFR (C677T, A1298C) and heterozygous Factor XIII V34L were higher in the patient cohort compared to the controls. Conclusion: In our study, we found that prothrombotic gene variants and APOA1 rs5069 polymorphism were statistically significantly associated with coronary artery disease. Thus, prothrombotic gene variants and APOA1 rs5069 polymorphism may serve as predictors of early myocardial infarctions. Individuals with early family histories of coronary artery disease could be screened for these mutations.

Therapeutic apheresis: is it safe in children with kidney disease?

BACKGROUND: Therapeutic apheresis (TA) is already used to treat various diseases in the field of nephrology. The aim of this study was to evaluate the frequency and types of complications that occur during TA in children with kidney disease. METHODS: Records of children (≤ 18 years) who underwent TA between 2007 and 2022 were retrospectively reviewed. Children with missing data and those with a diagnosis of nonnephrological disease were excluded. RESULTS: A total of 1214 TA sessions, including 1147 therapeutic plasma exchange (TPE) sessions and 67 immunoadsorption (IA) sessions, were performed on the 108 patients enrolled in the study. Forty-seven percent of the patients were male, and the mean age was 12.22 ± 4.47 years. Posttransplant antibody-mediated rejection (64.8%) and hemolytic uremic syndrome (14.8%) were the most common diagnoses indicating TA. Overall, 17 different complications occurred in 58 sessions (4.8%), and 53 sessions (4.6%) were not completed because of these complications. The distribution of complications among the patients was as follows: 41.4% had technical complications, 25.9% had allergic complications, and 32.7% had others. The most common technical complication was insufficient flow (37.5%). The incidence of complications was greater in patients aged 3-6 years than in patients in the other age groups (p = 0.031). The primary disease, type of vascular access, and rate of fresh frozen plasma/albumin use were similar between patients with and without complications (p values of 0.359 and 0.125 and 0.118, respectively). CONCLUSIONS: Our study showed that complications occurred in only 4.8% of TA sessions. The most common complication was technical problems.

Measuring the performance of an artificial intelligence-based robot that classifies blood tubes and performs quality control in terms of preanalytical errors: A preliminary study.

OBJECTIVES: Artificial intelligence-based robotic systems are increasingly used in medical laboratories. This study aimed to test the performance of KANKA (Labenko), a stand-alone, artificial intelligence-based robot that performs sorting and preanalytical quality control of blood tubes. METHODS: KANKA is designed to perform preanalytical quality control with respect to error control and preanalytical sorting of blood tubes. To detect sorting errors and preanalytical inappropriateness within the routine work of the laboratory, a total of 1000 blood tubes were presented to the KANKA robot in 7 scenarios. These scenarios encompassed various days and runs, with 5 repetitions each, resulting in a total of 5000 instances of sorting and detection of preanalytical errors. As the gold standard, 2 experts working in the same laboratory identified and recorded the correct sorting and preanalytical errors. The success rate of KANKA was calculated for both the accurate tubes and those tubes with inappropriate identification. RESULTS: KANKA achieved an overall accuracy rate of 99.98% and 100% in detecting tubes with preanalytical errors. It was found that KANKA can perform the control and sorting of 311 blood tubes per hour in terms of preanalytical errors. CONCLUSIONS: KANKA categorizes and records problem-free tubes according to laboratory subunits while identifying and classifying tubes with preanalytical inappropriateness into the correct error sections. As a blood acceptance and tube sorting system, KANKA has the potential to save labor and enhance the quality of the preanalytical process.

Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS).

OBJECTIVE: Neuroinflammation is the hallmark of amyotrophic lateral sclerosis (ALS) disease. Regulatory T cells (Tregs) are essential in immune tolerance and neuroinflammation prevention. It has been shown that a significant decrease in Treg and FoxP3 protein expression is observed in ALS patients. The main reason for the FoxP3+ Treg loss in ALS is unknown. In this study, the role of autophagy dysregulation in FoxP3+ Tregs in ALS was investigated. METHODS: Twenty-three ALS patients and 24 healthy controls were recruited for the study. Mononuclear cells (MNCs) were obtained from peripheral blood, and then Tregs were isolated. Isolated Tregs were stained with FoxP3 and LC3 antibodies and analyzed in flow cytometry to determine autophagy levels in FoxP3+ Tregs in patients and controls. RESULTS: The mean of FoxP3+ LC3+ cells, were 0.47 and 0.45 in patients and controls, respectively. The mean of FoxP3+ LC3- cells was 0.15 in patients and 0.20 in controls, p = 0.030 (p < 0.05). There is no significant correlation between ALSFRS-R decay rate and autophagy level in patients. Also, there is no significant difference between autophagy levels in FoxP3+ Tregs in patients with rapidly progressing ALS and slow-progressing ALS. CONCLUSION: Excessive autophagy levels in FoxP3+ Tregs in ALS patients can potentially be an explanation for an increased cell death and result in worsened neuroinflammation and disease onset. However, the disease progress is not attributable to autophagy levels in FoxP3+ Tregs.

Regulatory Effect of Ficus carica Latex on Cell Cycle Progression in Human Papillomavirus-Positive Cervical Cancer Cell Lines: Insights from Gene Expression Analysis.

Cervical cancer presents a significant global health concern with high-risk human papillomaviruses (HPVs) identified as the main cause of this cancer. Although current treatment methods for cervical cancer can eliminate lesions, preventing metastatic spread and minimizing tissue damage remain a major challenge. Therefore, the development of a safer and innovative therapeutic approach is of the utmost importance. Natural products like fig latex, derived from the Ficus carica tree, have demonstrated promising anti-cancer properties when tested on cervical cancer cell lines. However, the specific mechanisms by which fig latex exerts its effects are still unknown. In this study, we conducted RNA-Seq analysis to explore how fig latex may counteract carcinogenesis in HPV-positive cervical cancer cell lines, namely, CaSki (HPV type 16-positive) and HeLa (HPV type 18-positive). Our results from this investigation indicate that fig latex influences the expression of genes associated with the development and progression of cervical cancer, including pathways related to "Nonsense-Mediated Decay (NMD)", "Cell Cycle regulation", "Transcriptional Regulation by TP53", and "Apoptotic Process". This selective impact of fig latex on cancer-related pathways suggests a potential novel therapeutic approach for HPV-related cervical cancer.

Ficus carica Latex Modulates Immunity-Linked Gene Expression in Human Papillomavirus Positive Cervical Cancer Cell Lines: Evidence from RNA Seq Transcriptome Analysis.

Cervical carcinogenesis is the leading cause of cancer-related deaths in women, and the role of high-risk human papillomavirus (HR-HPV) as a possible risk factor in the development of this cancer is well recognized. Despite the availability of multi-therapeutic approaches, there is still major concern regarding the prevention of metastatic dissemination and excessive tissue injuries. Therefore, it is imperative to develop a safer and more efficient treatment modality. Ficus carica, a natural plant, has shown potential therapeutic properties through its fruit latex when applied to HPV-positive cervical cancer cell lines. However, the mechanisms of action of Ficus carica (fig) latex are not well understood. This study aims to provide a deeper insight into the biological activities of fig latex on human cervical cancer cell lines expressing high-risk HPV types 16 and 18. The data obtained from this study reveal that fig latex influences the expression of genes involved in "Class I MHC-mediated antigen presentation" as well as "Antigen processing: Ubiquitination and Proteasome degradation". These genes play a crucial role in host immune surveillance and the resolution of infection. Notably, Western blot analysis corroborated these findings, demonstrating an increase in the expression of MHC class I in HeLa cells after fig latex treatment. Findings from this study suggest that fig latex may enhance T cell responses against oncogenic HPV, which could be beneficial for the clearance of early-stage cancer.

Decision tree-based data mining approach for the evaluation of survival in primary malignant bone tumors: A surveillance, epidemiology and end results database study.

PURPOSE: This study aimed to conduct a large-scale population-based study to understand the epidemiological characteristics of Primary Malignant Bone Tumors (PMBTs) and determine the prognostic factors by concurrently using the classical statistical method and data mining methods. METHODS: Patients included in this study were extracted from the National Cancer Institute's Surveillance, Epidemiology and End Results (SEER) database: "Incidence-SEER Research Data, 18 Registries, Nov 2020 Sub". Patients with unclassified and incomplete information were excluded. This search algorithm resulted in a dataset comprising 6234 cases. Survival analyses were performed with Kaplan-Meier curves and the Log-rank test. Multivariate Cox regression analysis determined the independent prognostic factors of PMBT. A decision tree-based data mining technique was used in this study to confirm the prognostic factors. RESULTS: 5-years survival rate was 63.6% and 10-years survival rate was 55.3% in the patients with PMBT. Sex, age, median household income, histology, primary site, grade, stage, metastasis, and the total number of malignant tumors were determined as independent risk factors associated with overall survival (OS) in the multivariate COX regression analysis. The prognostic factors resulting in five terminal nodes in the decision tree (DT) included stage, age, and grade. The stage was the most important determining factor for vital status. The terminal node with the shortest number of surviving patients included 801 (72.3%) deaths in 1102 patients with distant stage, and hazard ratio was calculated as 5.4 (95% CI: 4.9-5.9; p < .001). These patients had a median survival of only 17 months. CONCLUSIONS: Rules extracted from DTs provide information about risk factors in specific patient groups and can be used by clinicians making decisions on individual patients. We recommend using DTs in combination with COX regression analysis to determine risk factors and the effect of these factors on survival.

The Effect of Smoking on Inactivated and mRNA Vaccine Responses Applied to Prevent COVID-19 in Multiple Sclerosis.

Introduction: Coronavirus disease 2019 (COVID-19) is the biggest health challenge of recent times. Studies so far reveal that vaccination is the only way to prevent this pandemic. There may be factors that decrease or increase vaccine effectiveness. In multiple sclerosis (MS), some of these factors may cause changes in the effectiveness of the vaccine, depending on the nature of the disease and disease-modifying treatments (DMT). In this study, we aimed to investigate the relationship between antibody titer and smoking in non-treated and DMT-treated MS patients who received inactivated vaccine (Sinovac) and messenger RNA BNT162b2 (BioNTech) mRNA vaccines. Method: Vaccine antibody responses were measured between 4-12 weeks after two doses of inactivated vaccine and mRNA vaccines. Patients were separated into 6 groups as: patients with MS without treatment PwMS w/o T, ocrelizumab, fingolimod, interferons (interferon beta-1a and interferon beta-1b), dimethyl fumarate, and teriflunomide. Antibody titers of smokers and non-smokers were compared for both vaccines and for each group. Results: The study included 798 patients. In the mRNA vaccine group, smokers (n=148; 2982±326 AU/mL) had lower antibody titers compared to the non-smokers (n=244; 5903±545 AU/mL) in total (p=0.020). In the inactivated vaccine group, no significant difference was detected between smokers (n=136; 383±51 AU/mL) and non-smokers (n=270; 388±49 AU/mL) in total (p=0.149). In both vaccine groups, patients receiving ocrelizumab and fingolimod had lower antibody titers than those receiving other DMTs or PwMS w/o T. In untreated MS patients, antibody levels in smokers were lower than in non-smokers in the mRNA vaccine group. No difference was found between antibody levels of smokers and non-smokers in any of the inactivated vaccine groups. Conclusion: Ocrelizumab and fingolimod have lower antibody levels than PwMS w/o T or other DMTs in both mRNA and inactivated vaccine groups. Smoking decreases antibody levels in the mRNA vaccine group, while it has no effect in the inactivated vaccine group.

Prospective outcome analysis of multiple sclerosis cases reveals candidate prognostic cerebrospinal fluid markers.

BACKGROUND: Predicting the long-term disability outcomes of multiple sclerosis (MS) cases is challenging. OBJECTIVE: We prospectively analysed our previous MS cohort with initial cerebrospinal fluid (CSF) proteomics data to reveal disability markers after 8.2±2.2 years of follow-up. METHODS: Patients with regular follow-up visits were assigned into two groups: those with an age-related MS severity (ARMSS) score ≥5 (unfavourable course group, N = 27) and ARMSS score <5 (favourable course group, N = 67). A machine learning-based algorithm was applied to reveal candidate poor prognosis-associated initial CSF proteins, which were measured in an independent MS cohort (verification group, N = 40) by ELISA. Additionally, the correlation of initial clinical and radiological parameters with long-term disability was analysed. RESULTS: CSF alpha-2-macroglobulin (P = 0.0015), apo-A1 (P = 0.0016), and haptoglobin (P = 0.0003) protein levels, as well as cerebral lesion load (>9 lesions) on magnetic resonance imaging, gait disturbance (P = 0.04), and bladder/bowel symptoms (P = 0.01) were significantly higher in the unfavourable course group than in the favourable course group. Optic nerve involvement evident on initial magnetic resonance imaging (P = 0.002) and optic neuritis (P = 0.01) were more frequent in the favourable course group. CONCLUSION: The herein identified initial CSF protein levels, in addition to the clinical and radiological parameters at disease onset, have predictive value for long-term disability in MS cases.

Application of diffuse optical back reflection spectroscopy for determining articular cartilage thickness in a clinical setting.

PURPOSE: Develop a spectroscopic method to assess cartilage thickness during the arthroscopic examination. METHODS: Currently, arthroscopy assesses cartilage damage visually; outcomes are based on the surgeon's subjective experience. Light reflection spectroscopy is a promising method for measuring cartilage thickness based on the absorption of light by the subchondral bone. In the presented study, in vivo diffuse optical back reflection spectroscopic measurements were acquired by gently placing an optical fibre probe on different locations of the articular cartilage of 50 patients during complete knee replacement surgery. The optical fibre probe consists of two optical fibers with a diameter of 1 mm to deliver the light and detect back-reflected light from the cartilage. Centre to centre distance between the source and the detector fibers was 2.4 mm. Actual thicknesses of the articular cartilage samples were measured under microscopy using histopathological staining. RESULTS: Using half of the samples in the patient data, a linear regression model was formed to estimate cartilage thicknesses from the spectroscopic measurements. The regression model was then used to predict the cartilage thickness in the second half of the data. The cartilage thickness was predicted with a mean error of 8.7% if the actual thickness was less than 2.5 mm (R2 = 0.97). CONCLUSION: The outer diameter of the optical fibre probe was 3 mm, which can fit into the arthroscopy channel and can be used to measure the cartilage thickness in real-time during the arthroscopic examination of the articular cartilage.

mRNA versus inactivated virus COVID-19 vaccines in multiple sclerosis: Humoral responses and protectivity-Does it matter?

BACKGROUND: COVID-19 vaccines are recommended for people with multiple sclerosis (pwMS). Adequate humoral responses are obtained in pwMS receiving disease-modifying therapies (DMTs) after vaccination, with the exception of those receiving B-cell-depleting therapies and non-selective S1P modulators. However, most of the reported studies on the immunity of COVID-19 vaccinations have included mRNA vaccines, and information on inactivated virus vaccine responses, long-term protectivity, and comparative studies with mRNA vaccines are very limited. Here, we aimed to investigate the association between humoral vaccine responses and COVID-19 infection outcomes following mRNA and inactivated virus vaccines in a large national cohort of pwMS receiving DMTs. METHODS: This is a cross-sectional and prospective multicenter study on COVID-19-vaccinated pwMS. Blood samples of pwMS with or without DMTs and healthy controls were collected after two doses of inactivated virus (Sinovac) or mRNA (Pfizer-BioNTech) vaccines. PwMS were sub-grouped according to the mode of action of the DMTs that they were receiving. SARS-CoV-2 IgG titers were evaluated by chemiluminescent microparticle immunoassay. A representative sample of this study cohort was followed up for a year. COVID-19 infection status and clinical outcomes were compared between the mRNA and inactivated virus groups as well as among pwMS subgroups. RESULTS: A total of 1484 pwMS (1387 treated, 97 untreated) and 185 healthy controls were included in the analyses (male/female: 544/1125). Of those, 852 (51.05%) received BioNTech, and 817 (48.95%) received Sinovac. mRNA and inactivated virus vaccines result in similar seropositivity; however, the BioNTech vaccination group had significantly higher antibody titers (7.175±10.074) compared with the Sinovac vaccination group (823±1.774) (p<0.001). PwMS under ocrelizumab, fingolimod, and cladribine treatments had lower humoral responses compared with the healthy controls in both vaccine types. After a mean of 327±16 days, 246/704 (34.9%) of pwMS who were contacted had COVID-19 infection, among whom 83% had asymptomatic or mild disease. There was no significant difference in infection rates of COVID-19 between participants vaccinated with BioNTech or Sinovac vaccines. Furthermore, regression analyses show that no association was found regarding age, sex, Expanded Disability Status Scale score (EDSS), the number of vaccination, DMT type, or humoral antibody responses with COVID-19 infection rate and disease severity, except BMI Body mass index (BMI). CONCLUSION: mRNA and inactivated virus vaccines had similar seropositivity; however, mRNA vaccines appeared to be more effective in producing SARS-CoV-2 IgG antibodies. B-cell-depleting therapies fingolimod and cladribine were associated with attenuated antibody titer. mRNA and inactive virus vaccines had equal long-term protectivity against COVID-19 infection regardless of the antibody status.

The economic evaluation of ALS care: quality and cost.

Objective: The study aims to analyze the quality of studies that make economic evaluations for amyotrophic lateral sclerosis (ALS). Assessing the quality of studies can guide policy-making and planning. Methods: One of the most recognized checklists "The Consensus on Health Economic Criteria" (CHEC)-list designed by Evers et al. in 2005 aims to answer two important questions: is the methodology of the study appropriate, and are the results of the study valid? We reviewed studies focusing on ALS and its economic costs, and evaluated the studies with (CHEC)-list. Results: We examined 25 articles in terms of their cost evaluation and quality. It is seen that they mainly focus on medical costs, ignoring social care costs. When the quality of the studies is examined, it is seen that the studies overall achieve high scores in terms of their purpose and research question, but some of the studies score low in terms of ethical dimension, comprehensiveness of expenditure items, their application of sensitivity analyses and their study design. Conclusions: The main recommendation of our study for future cost evaluation studies is that they should focus on the questions in the checklist that are scored low overall by the 25 articles, and consider the social care costs as well as medical costs. Our recommendations when designing cost studies can be applied to other chronic diseases with long-term economic costs like ALS.

Outcomes of Cardiopulmonary Resuscitation of Oncologic Patients in Emergency Department.

OBJECTIVE: To evaluate the outcomes of cardiopulmonary resuscitation (CPR) of oncological cases versus non-oncological admitted to the emergency department as out-of-hospital cardiac arrest (OHCA) or in-hospital cardiac arrest (IHCA). STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Emergency Department (ED) of Eskisehir Osmangazi University Hospital, between January 2014 to January 2020. METHODOLOGY: Victims over the age of 18 years who had OHCA and IHCA were inducted. The outcomes of 109 patients with an oncological diagnosis and 109 controls without cancer underwent CPR and were compared. RESULTS: The median age of the participants was 65 (58-76) years. Patients with an oncological diagnosis were more likely to have an IHCA [OR: 2.98 (95% CI: 1.68-5.30), p <0.001]. The IHCA and OHCA rates of patients without an oncological diagnosis were similar. Solid-organ malignancies were observed in 102 patients (93.6%). The initial rhythm of 88 patients (80.7%) in the oncological arrest group was asystole versus 77 patients (70.6%) in the control group. Pulseless electrical activity was observed in 17 patients (15.6%) in the study group and in 24 patients (22.0%) in the control group. Although the non-oncological group was found to have a longer stay. No statistically significant difference was found between the study and control groups regarding duration of stay in the intensive care unit. Only one patient (2.0%) with cancer was discharged in stable state as against 10 (21.3%) of non-oncological arrests [OR: 12.97 (95% CI: 1.59-105.93), p = 0.008]. CONCLUSION: The presence of cancer is not a favourable prognostic factor for the success of CPR. KEY WORDS: Oncology, Cardiac arrest, IHCA, OHCA, Emergency department.

The detection of cervical neoplasia via optical imaging: a pilot clinical study.

PURPOSE: The present study aims to develop a new high-resolution imaging system for the early diagnosis of cervical neoplasia based on increased vessel density of the cervical tissue. METHODS: An optical device was developed to obtain high contrast and resolution images of vascular structures of the cervix in the present study. The device utilizes a telecentric lens to capture cervix images under light illumination with a wavelength of 550 nm emitted from LEDs. Images were obtained using the telecentric lens with or without acetic acid application to the cervix. Image processing algorithms were used to contrast and extract the skeleton of the vascular structures on the cervix. In the evaluation of the vascular density, the cervical images were divided into 12 o'clock positions, and the fractal dimension of the vascularity was calculated for each dial area between the o'clock positions. The region with the largest fractal dimension was accepted as the region with the highest probability of lesion. The range of vessel sizes was split into small classes of "bins" for each dial area with the highest fractal dimension. To validate the system's success in differentiating between normal and HSIL lesions, forty five patients who underwent colposcopy and biopsy were included in a pilot study. RESULTS: The system correctly classified four HSIL cases out of five and failed to detect one HSIL case, achieving an accuracy rate of 97.8% with an 80% sensitivity and 100% specificity. CONCLUSION: The developed high-resolution optical imaging system may potentially be used in detecting cervical neoplasia just before the biopsy and reduce the number of false-positive cases.

The relationship between COVID-19 and HLA in kidney transplant recipients, an evaluation of predictive and prognostic factors.

INTRODUCTION: The purpose of this study was to determine the predictive and prognostic factors for COVID-19 infection and its relationship with human leukocyte antigen (HLA) in kidney transplant recipients. MATERIAL AND METHOD: Three hundred fifty kidney transplant recipients were included in the study. Recipients were divided into two groups: COVID-19(+) (n = 100) and control (n = 250). The relationships between HLA frequencies, COVID-19 infection, and prognostic factors (age, donor type, immunosuppression protocol, etc.) were then evaluated. Logistic regression analysis, heatmap, and decision tree methods were used to determine predictive and prognostic factors. The study was performed retrospectively. RESULTS: Advanced age and deceased transplantation emerged as predictive of SARS-CoV-2 infection, while the presence of HLA-A*11, the HLA match ratio, and high-dose tacrolimus were identified as prognostic factors in kidney transplant recipients. HLA-A10, HLA-B*13, HLA-B22, and HLA-B*55 were shown to be associated with SARS-CoV-2 infection at univariate analysis, and HLA-B*57, HLA-DRB1*11, and HLA-DRB1*13 at logistic regression analysis. CONCLUSION: HLA-A10, HLA-B*13, HLA-B*55, HLA-B*57, HLA-DRB1*11, and HLA-DRB1*13 were identified for the first time in the literature associated with SARS-CoV-2 infection in kidney transplant recipients.

ALS and fertility: does ALS affect number of children patients have?

OBJECTIVE: Amyotrophic Lateral Sclerosis is one major disease in the group of neurodegenerative conditions. As with most other neurodegenerative diseases, clinical signs of the disease usually show among the elderly population, and most commonly around 60-65 years of age. Therefore the disease is not expected to impact the fertility of ALS patients. When examined from an evolutionary medicine and evolutionary biology perspective, there should be no selection pressure on the patient population due to the late onset of ALS. Methods: In this study, we tested the hypothesis that ALS does not affect fertility on a group of patients with ALS that we collected in a multi-center study. We recruited 511 patients diagnosed with ALS according to the revised El Escorial criteria, and 236 control cases without a neurodegenerative disease. We compared the ALS group's number of offspring with the control group in three consecutive generations. Results: No statistically significant difference was found between the number of siblings of ALS and control groups (p = 0.44). A statistically significant difference was found between the number of children of ALS and control groups (p < 0.001), indicating ALS patients had more children than controls. When the number of children is assessed by gender, for women, there was no statistically significant difference between the number of children of ALS and control groups (p = 0.067). Conclusions: This finding supports the view that ALS does not have a negative selection pressure on the patient population's fertility.

A workflow with R: Phylogenetic analyses and visualizations using mitochondrial cytochrome b gene sequences.

Phylogenetic analyses can provide a wealth of information about the past demography of a population and the level of genetic diversity within and between species. By using special computer programs developed in recent years, large amounts of data have been produced in the molecular genetics area. To analyze these data, powerful new methods based on large computations have been applied in various software packages and programs. But these programs have their own specific input and output formats, and users need to create different input formats for almost every program. R is an open source software environment, and it supports open contribution and modification to its libraries. Furthermore, it is also possible to perform several analyses using a single input file format. In this article, by using the multiple sequences FASTA format file (.fas extension) we demonstrate and share a workflow of how to extract haplotypes and perform phylogenetic analyses and visualizations in R. As an example dataset, we used 120 Bombus terrestris dalmatinus mitochondrial cytochrome b gene (cyt b) sequences (373 bp) collected from eight different beehives in Antalya. This article presents a short guide on how to perform phylogenetic analyses using R and RStudio.

Intestinal microbiota composition of patients with Behçet's disease: differences between eye, mucocutaneous and vascular involvement. The Rheuma-BIOTA study.

OBJECTIVES: Changes in microbiota composition affect the aetiology and patho-genesis of chronic diseases, including Behçet's disease (BD). However, no studies have analysed the potential gut microbiota changes among different clinical forms of BD. This study evaluated the intestinal microbiota composition of patients with BD and healthy controls and also compared differences between patients with BD with respect to eye, mucocutaneous, and vascular involvement. METHODS: In this prospective cohort study, 27 patients diagnosed with BD according to the International Study Group criteria and 10 age- and sex-matched healthy controls were included. Detailed intestinal microbiota analysis was performed. RESULTS: There were no differences between the BD group and the control group in terms of alpha and beta microbial diversity and abundance indices (p>0.05). Actinomyces, Libanicoccus, Collinsella, Eggerthella, Enetrohabdus, Catenibacterium, and Enterobacter were significantly higher in the BD group than in the control group. In addition, Bacteroides, Cricetibacter, Alistipes, Lachnospira, Dielma, Akkermansia, Sutterella, Anaerofilum, Ruminococcease-UCG007, Acetanaerobacterium, and Copropaacter were lower in the BD group than in the control group. When we compared three different system involvement (eye, mucocutaneous, and vascular), the linear discriminant analysis effective size revealed a difference for the following genera: Lachnospiraceae NK4A136 in the uveitis group; Dialister, Intestinomonas, and Marvinbryantia in the mucocutaneous group; and Gemella in the vascular group. CONCLUSIONS: The composition of intestinal microbiota was significantly different in patients with BD compared with healthy adults. Ours is the first study to show differences in microbiota composition in isolated mucocutaneous, eye, and vascular involvement. These findings should be evaluated in a larger series.

Early and Ultraearly Administration of Tranexamic Acid in Traumatic Brain Injury: Our 8-Year-Long Clinical Experience.

INTRODUCTION: The most important result of head trauma, which can develop with a blunt or penetrating mechanism, is traumatic brain injury. Tranexamic acid (TXA) can be used safely in multiple trauma. Recent studies showed that TXA can be useful in management of intracerebral hemorrhage, especially in reducing the amount of bleeding. The TXA given in the first 3 hours has been shown to reduce mortality. The aim of our study was to evaluate the effectiveness of tranexamic acid used in patients with traumatic brain injury. METHOD: Patients with trauma in the emergency room between January 2012 and January 2020 were screened in this retrospective study. The inclusion criteria were being over the age of 18 years, tranexamic acid administration in the emergency department, and traumatic brain injury on brain computerized tomography (CT) and control CT imaging after 6 hours. RESULTS: The number of study patients was 51. The median score of GCS was 12.00 (8.00-15.00). Subdural hemorrhage and subarachnoid hemorrhage were the most common findings on brain CT scans. In the group TXA treatment for less than 1 hour, the arrival MAP was low and the pulse was high (p=0.022 and p=0.030, respectively). All the patients were admitted with multiple trauma. None of the 51 patients had thrombotic complications and died due to head injury. CONCLUSION: TXA appears to be a safe drug with few side effects in the short term in head injuries. According to our experience, it comes to mind earlier in multiple trauma, especially in head trauma with pelvic trauma.