The effect of endometriosis on anxiety and the Quality of Life in women.

This descriptive and cross-sectional study was conducted with 420 women. The data were collected by using the "Descriptive Information Form", "SF-36 Quality of Life Scale (QoLS)" and "State Anxiety Inventory (SAI)". The data were evaluated with Mann-Whitney U-test, Student's t-test and Pearson correlation analysis. Endometriosis had been diagnosed in 12.1% of the women. The score medians obtained by the women with endometriosis from the pain and physical role difficulty sub-dimensions of the QoLS were found to be significantly lower than those obtained by women without endometriosis. The presence of endometriosis was found not to affect the state anxiety in the women. A weak or moderately significant negative relationship was found between the number and onset time of the symptoms and certain sub-dimensions of the QoLS in the women with endometriosis.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.

Tribological, biocompatibility, and antibiofilm properties of tungsten-germanium coating using magnetron sputtering.

In this study, borosilicate glass and 316 L stainless steel were coated with germanium (Ge) and tungsten (W) metals using the Magnetron Sputtering System. Surface structural, mechanical, and tribological properties of uncoated and coated samples were examined using SEM, X-ray diffraction (XRD), energy-dispersive spectroscopy, and tribometer. The XRD results showed that WGe2 chemical compound observed in (110) crystalline phase and exhibited a dense structure. According to the tribological analyses, the adhesion strength of the coated deposition on 316 L was obtained 32.8 N, and the mean coefficient of friction was around 0.3. Biocompatibility studies of coated metallic biomaterials were analyzed on fibroblast cell culture (Primary Dermal Fibroblast; Normal, Human, Adult (HDFa)) in vitro. Hoescht 33258 fluorescent staining was performed to investigate the cellular density and chromosomal abnormalities of the HDFa cell line on the borosilicate glasses coated with germanium-tungsten (W-Ge). Cell viabilities of HDFa cell line on each surface (W-Ge coated borosilicate glass, uncoated borosilicate glass, and cell culture plate surface) were analyzed by using (3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) cytotoxicity assay. The antibiofilm activity of W-Ge coated borosilicate glass showed a significant reduction effect on Staphylococcus aureus (ATCC 25923) and Pseudomonas aeruginosa (ATCC 27853) adherence compared to control groups. In the light of findings, tungsten and germanium, which are some of the most common industrial materials, were investigated as biocompatible and antimicrobial surface coatings and recommended as bio-implant materials for the first time.

An investigation of the ocular toxic effects of levetiracetam therapy in children with epilepsy.

OBJECTIVE: To investigate the potential toxic effects of levetiracetam monotherapy on ocular tissues in cases of pediatric epilepsy using optical coherence tomography (OCT). METHODS: Thirty epileptic children (group 1) receiving levetiracetam monotherapy at a dosage of 20-40 mg/kg/day for at least 1 year with a first diagnosis of epilepsy and 30 age- and gender-matched healthy children (group 2) were included in the study. In addition to a detailed eye examination, peripapillary retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, foveal thickness (FT), and central corneal thickness (CCT) were measured in all children by means of spectral domain OCT. The data obtained from the two groups were then subjected to statistical analysis. RESULTS: The mean age of both groups was 12 ± 3.64 years [1-12]. The mean duration of levetiracetam in group 1 was 24.07 ± 12.82 months. Mean RNFL values in groups 1 and 2 were 106.1 ± 10.42 and 104.98 ± 10.04 µm, mean GCC values were 94.72 ± 6.26 and 94.4 ± 6 µm, mean FT values were 240.73 ± 17.94 and 240.77 ± 15.97 µm, and mean CCT values were 555.1 ± 44.88 and 540.97 ± 32.65 µm, respectively. No significant difference was determined between the two groups in terms of any parameter. Best corrected visual acuity values of the subjects in both groups were 10/10, and no color vision or visual field deficit was determined. CONCLUSION: Levetiracetam monotherapy causes no significant function or morphological change in ocular tissues in pediatric epilepsies.

Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients.

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.

Effect of Biperiden Treatment in Acute Orofacial and Extremity Dyskinesia With Methylphenidate Therapy.

Methylphenidate is a stimulant drug commonly prescribed to individuals with attention-deficit/hyperactivity disorder. The suggested underlying mechanism of acute dyskinesias is dopaminergic transmission increase. We describe a 9-year-old boy with a diagnosis of attention-deficit/hyperactivity disorder admitted to emergency clinic with primarily orofacial and extremity dyskinesia after administration of a first dose of 18 mg OROS (osmotic [controlled] release oral) methylphenidate (Concerta). OROS methylphenidate was discontinued, and the patient's symptoms resolved within 20 minutes after injection of biperiden by intravenous route (0.04 mg/kg). We wish to emphasize that acute orofacial dyskinesia and extremity dyskinesia can be observed during methylphenidate therapy and that biperiden can be successfully used in the treatment of this unpleasant condition. To the best of our knowledge, this is the first report of the use of biperiden therapy in this condition. This case report highlights the importance for physicians of awareness of dyskinesia as a potential adverse effect of methylphenidate therapy and indicates benefit of biperiden therapy.

Supramolecular Peptide Nanofiber Morphology Affects Mechanotransduction of Stem Cells.

Chirality and morphology are essential factors for protein function and interactions with other biomacromolecules. Extracellular matrix (ECM) proteins are also similar to other proteins in this sense; however, the complexity of the natural ECM makes it difficult to study these factors at the cellular level. The synthetic peptide nanomaterials harbor great promise in mimicking specific ECM molecules as model systems. In this work, we demonstrate that mechanosensory responses of stem cells are directly regulated by the chirality and morphology of ECM-mimetic peptide nanofibers with strictly controlled characteristics. Structural signals presented on l-amino acid containing cylindrical nanofibers (l-VV) favored the formation of integrin ß1-based focal adhesion complexes, which increased the osteogenic potential of stem cells through the activation of nuclear YAP. On the other hand, twisted ribbon-like nanofibers (l-FF and d-FF) guided the cells into round shapes and decreased the formation of focal adhesion complexes, which resulted in the confinement of YAP proteins in the cytosol and a corresponding decrease in osteogenic potential. Interestingly, the d-form of twisted-ribbon like nanofibers (d-FF) increased the chondrogenic potential of stem cells more than their l-form (l-FF). Our results provide new insights into the importance and relevance of morphology and chirality of nanomaterials in their interactions with cells and reveal that precise control over the chemical and physical properties of nanostructures can affect stem cell fate even without the incorporation of specific epitopes.

Maternal SSRI discontinuation, use, psychiatric disorder and the risk of autism in children: a meta-analysis of cohort studies.

We undertook an exclusive meta-analysis of cohort studies investigating the possible link between prenatal selective serotonin reuptake inhibitor (SSRI) exposure and autism spectrum disorders (ASD) in children to further investigate our previous suggestion of confounding by indication. The point estimates regarding the following cohorts were extracted and pooled: (1) pregnant women who discontinued SSRI until 3 months before pregnancy; (2) pregnant women who were exposed to SSRI during pregnancy; and (3) pregnant women with maternal psychiatric disorder but no exposure to SSRI during pregnancy. Although the pooled point estimate of the first cohort showed a trend for increase, it did not reach significance. The pooled point estimates of the latter cohorts showed a significant association with ASD which strengthens our previous suggestion of confounding by indication. Future studies should be adequately designed to differentiate whether the previously suggested association is a result of maternal psychiatric disorder or SSRI exposure or both.

Peptide-Based Materials for Cartilage Tissue Regeneration.

Cartilaginous tissue requires structural and metabolic support after traumatic or chronic injuries because of its limited capacity for regeneration. However, current techniques for cartilage regeneration are either invasive or ineffective for long-term repair. Developing alternative approaches to regenerate cartilage tissue is needed. Therefore, versatile scaffolds formed by biomaterials are promising tools for cartilage regeneration. Bioactive scaffolds further enhance the utility in a broad range of applications including the treatment of major cartilage defects. This chapter provides an overview of cartilage tissue, tissue defects, and the methods used for regeneration, with emphasis on peptide scaffold materials that can be used to supplement or replace current medical treatment options.

Glycosaminoglycan-Mimetic Signals Direct the Osteo/Chondrogenic Differentiation of Mesenchymal Stem Cells in a Three-Dimensional Peptide Nanofiber Extracellular Matrix Mimetic Environment.

Recent efforts in bioactive scaffold development focus strongly on the elucidation of complex cellular responses through the use of synthetic systems. Designing synthetic extracellular matrix (ECM) materials must be based on understanding of cellular behaviors upon interaction with natural and artificial scaffolds. Hence, due to their ability to mimic both the biochemical and mechanical properties of the native tissue environment, supramolecular assemblies of bioactive peptide nanostructures are especially promising for development of bioactive ECM-mimetic scaffolds. In this study, we used glycosaminoglycan (GAG) mimetic peptide nanofiber gel as a three-dimensional (3D) platform to investigate how cell lineage commitment is altered by external factors. We observed that amount of fetal bovine serum (FBS) presented in the cell media had synergistic effects on the ability of GAG-mimetic nanofiber gel to mediate the differentiation of mesenchymal stem cells into osteogenic and chondrogenic lineages. In particular, lower FBS concentration in the culture medium was observed to enhance osteogenic differentiation while higher amount FBS promotes chondrogenic differentiation in tandem with the effects of the GAG-mimetic 3D peptide nanofiber network, even in the absence of externally administered growth factors. We therefore demonstrate that mesenchymal stem cell differentiation can be specifically controlled by the combined influence of growth medium components and a 3D peptide nanofiber environment.

Supramolecular GAG-like Self-Assembled Glycopeptide Nanofibers Induce Chondrogenesis and Cartilage Regeneration.

Glycosaminoglycans (GAGs) and glycoproteins are vital components of the extracellular matrix, directing cell proliferation, differentiation, and migration and tissue homeostasis. Here, we demonstrate supramolecular GAG-like glycopeptide nanofibers mimicking bioactive functions of natural hyaluronic acid molecules. Self-assembly of the glycopeptide amphiphile molecules enable organization of glucose residues in close proximity on a nanoscale structure forming a supramolecular GAG-like system. Our in vitro culture results indicated that the glycopeptide nanofibers are recognized through CD44 receptors, and promote chondrogenic differentiation of mesenchymal stem cells. We analyzed the bioactivity of GAG-like glycopeptide nanofibers in chondrogenic differentiation and injury models because hyaluronic acid is a major component of articular cartilage. Capacity of glycopeptide nanofibers on in vivo cartilage regeneration was demonstrated in microfracture treated osteochondral defect healing. The glycopeptide nanofibers act as a cell-instructive synthetic counterpart of hyaluronic acid, and they can be used in stem cell-based cartilage regeneration therapies.

Effects of Orange Oil Aromatherapy on Pain and Anxiety During Invasive Interventions in Patients With Hematopoietic Stem Cell Transplants.

Invasive interventions, such as peripheral intravenous cannula, port needle placement, and blood collection, are often required for both inpatient and outpatient follow-up patients with hematological malignancies and hematopoietic stem cell transplants. This prospective, randomized controlled experimental study assessed the effect of orange oil inhalation used in aromatherapy on pain and anxiety levels in invasive interventions with hematological malignancies and hematopoietic stem cell transplants. It was conducted prospectively with 80 patients with hematological malignancies who were treated in the adult bone marrow transplant unit and adult hematology service of a private hospital between May 2021 and April 2022. The orange oil inhalation used in aromatherapy was applied to patients in the intervention group. The Visual Analog Scale (VAS) and State-Trait Anxiety Inventory (STAI) were used for data collection. Regarding the personal characteristics of the patients, 42.5% were ≥61 years old, 60% were men, and 85% were married. VAS pain scores of the intervention group were statistically lower than those of the control group (P < .001). However, there was no statistically significant difference in the STAI scores of groups (P >.05). The study results show that orange oil inhalation has been determined to reduce pain during invasive interventions.

Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach.

Accurate identification of germline de novo variants (DNVs) remains a challenging problem despite rapid advances in sequencing technologies as well as methods for the analysis of the data they generate, with putative solutions often involving ad hoc filters and visual inspection of identified variants. Here, we present a purely informatic method for the identification of DNVs by analyzing short-read genome sequencing data from proband-parent trios. Our method evaluates variant calls generated by three genome sequence analysis pipelines utilizing different algorithms-GATK HaplotypeCaller, DeepTrio and Velsera GRAF-exploring the assumption that a requirement of consensus can serve as an effective filter for high-quality DNVs. We assessed the efficacy of our method by testing DNVs identified using a previously established, highly accurate classification procedure that partially relied on manual inspection and used Sanger sequencing to validate a DNV subset comprising less confident calls. The results show that our method is highly precise and that applying a force-calling procedure to putative variants further removes false-positive calls, increasing precision of the workflow to 99.6%. Our method also identified novel DNVs, 87% of which were validated, indicating it offers a higher recall rate without compromising accuracy. We have implemented this method as an automated bioinformatics workflow suitable for large-scale analyses without need for manual intervention.

Palliative Care in Patients with Hematological Malignancies.

Palliative care is an attempt to improve the quality of life of patients and their relatives who have lost the chance of a cure. Interventions to improve the quality of life of patients include physical, mental, and psychosocial problems. It is known that symptoms such as pain, fatigue, loss of appetite, and feeling unwell, which often cause deterioration in quality of life, are improved with palliative care support. It is seen that palliative care support, which is mostly recommended in the end-of-life period of patients with solid tumors, is not recommended for patients with hematological malignancies. In fact, patients with hematological malignancies face physical, mental, and economic difficulties due to the intense treatment protocols required for their disease and the side effects of the treatments. Compared to patients with solid tumors, patients with hematological malignancies have a higher frequency of hospitalization and intensive care unit admission. For these reasons, our aim is to define the palliative care needs of patients with hematologic malignancies, understand the barriers to palliative care and end-of-life care, and offer solutions to improve the quality of life and care of patients with hematologic malignancies.

Expression of Human ß-defensin 2 (hBD-2) in Pichia Pastoris and Investigation of Its Binding Efficiency with ACE-2.

COVID-19 is a disease that have affected the entire world, and it continues to spread with new variants. A patient's innate immune system plays a critical role in the mild and severe transition of COVID-19. Antimicrobial peptides (AMPs), which are important components of the innate immune system, are potential molecules to fight pathogenic bacteria, fungi, and viruses. Human ß-defensin 2 (hBD-2), a 41-amino-acid antimicrobial peptide, is one of the defensins inducibly expressed in the skin, lungs, and trachea in humans. In this study, it was aimed to investigate the interaction of hBD-2 produced recombinantly in Pichia pastoris with the human angiotensin-converting enzyme 2 (ACE-2) under in vitro conditions. First, hBD-2 was cloned in P. pastoris X-33 via the pPICZαA vector, a yeast expression platform, and its expression was confirmed by SDS-PAGE, western blotting, and qRT-PCR. Then, the interaction between recombinant hBD-2 and ACE-2 proteins was revealed by a pull-down assay. In light of these preliminary experiments, we suggest that the recombinantly produced hBD-2 may be protective against SARS-CoV-2 and be used as a supplement in treatment. However, current findings need to be supported by cell culture studies, toxicity analyses, and in vivo experiments.

Effects of four antibiotics on Pseudomonas aeruginosa motility, biofilm formation, and biofilm-specific antibiotic resistance genes expression.

The aim of this study was to determine the effects of 4 antibiotics (tobramycin, fosfomycin, ciprofloxacin, and piperacillin/tazobactam) against Pseudomonas aeruginosa motility, biofilm formation, and biofilm resistance gene expression changes using different methods including microscopy, microdilution, crystal violet staining, and qRT-PCR. Although the antibiotics reduced swarming motility, they inhibited biofilm formation to a greater extent than the minimum inhibitory concentration (MIC) value. The qRT-PCR results showed that the antibiotics, other than fosfomycin, decreased the expression levels of the selected biofilm resistance genes (ndvB, tssC1, PA5033 and PA2070) in the biofilm structure compared to planktonic cells. Furthermore, it was found that there was an increase in the expression levels of biofilm resistance genes in the antibiotic application groups compared to the biofilm structure that was not treated with antibiotics. These results showed for the first time that the treatment of antibiotics at sub-MIC concentrations increases the expression levels of biofilm-specific resistance genes and contributes to resistance and motility.

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.

Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6p cases reported in the literature included partial monosomy of another chromosome. This is often due to the fact that one of the parents is a balanced translocation carrier, thereby making it difficult to determine the genotype-phenotype relationship. Pure partial trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion. Case Presentation: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient‧s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic. Conclusion: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.

Age- and gender-related radiological changes of the cervical spine: A study with largest magnetic resonance imaging database of 5672 consecutive patients.

Background: The morphological features of the cervical spine are an essential issue. This retrospective study aimed to investigate the structural and radiological changes in the cervical spine. Materials and Methods: A total of 250 patients with neck pain but no apparent cervical pathology were selected from a database of 5672 consecutive patients undergoing magnetic resonance imaging (MRI). MRIs were directly examined for cervical disc degeneration. These include Pfirrmann grade (Pg/C), cervical lordosis angle (A/CL), Atlantodental distance (ADD), the thickness of transverse ligament (T/TL), and position of cerebellar tonsils (P/CT). The measurements were taken at the positions of T1- and T2-weighted sagittal and axial MRIs. To evaluate the results, patients were divided into seven age groups (10-19, 20-29, 30-39, 40-49, 50-59, 60-69, 70, and over). Results: In terms of ADD (mm), T/TL (mm), and P/CT (mm), there was no significant difference among age groups (P > 0.05). However, in terms of A/CL (degree) values, a statistically significant difference was observed among age groups (P < 0.05). Conclusions: Intervertebral disc degeneration was more severe in males than in females as age increased. For both genders, cervical lordosis, decreased significantly as age increased. T/TL, ADD, and P/CT did not significantly differ with age. The present study indicates that structural and radiological changes are possible reasons for cervical pain at advanced ages.

Pregnancy outcomes following maternal macrolide use: A systematic review and meta-analysis.

To determine whether gestational use of all or specific macrolides (azithromycin, clarithromycin, roxithromycin or erythromycin) lead to an increase in rates of overall major congenital malformations, organ-specific malformations, and other adverse pregnancy outcomes in infants. PubMed/MEDLINE, Cochrane Central Register of Controlled Trials and Reprotox® databases were searched. Dichotomous outcomes or calculated log odds ratios and standard errors from observational studies are combined using the random-effects method in Review Manager 5.3. No significant increased risks for major congenital malformation (OR 1.06 [95% CI 0.99, 1.13]) and congenital heart defect (OR 1.05 [95% CI 0.92, 1.19]) following all macrolides use during the first trimester were detected. Prenatal azithromycin use was associated with a significantly increased risk of major congenital malformations in the analysis of cohort studies (OR 1.21 [95% CI 1.08-1.36]). This significance was also present in the sensitivity analysis. There were no statistically significant associations between the risk of organ specific malformations and all or specific macrolide exposures except for the decreased risk in hypospadias following erythromycin use in the meta-analysis of case-control studies (OR 0.38 [95% CI 0.18, 0.81]. Also, a significant 1.5-fold increased risk for spontaneous abortion following macrolide use was detected. A slight yet significantly increased rate of major congenital malformation with azithromycin exposure during pregnancy may be associated with maternal confounders. Nevertheless, level II ultrasound can be suggested following maternal azithromycin use during the first trimester. Future studies should take into account the inclusion of a disease-matched control group and accurate classification of the malformations.