Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.

BACKGROUND: Variants in sodium channel genes (SCN) are strongly associated with epilepsy phenotypes. Our aim in this study to evaluate the genotype and phenotype correlation of patients with SCN variants in our tertiary care center. METHODS: In this retrospective study, patients with SCN variants and epilepsy who were followed up at our clinic between 2018 and 2022 were evaluated. Our study discussed the demographics of the patients, the seizure types, the age of seizure onset, the SCN variants, the domains and the functions of the variants, the magnetic resonance imaging findings, the motor, cognitive, and psychiatric comorbidities, and the response to anti-seizure medication. Genetic testing was conducted using a next-generation sequencing gene panel (epilepsy panel) or a whole-exome sequencing. For evaluating variant function, we used a prediction tool (https://funnc.shinyapps.io/shinyappweb/ site). To assess protein domains, we used the PER viewer (http://per.broadinstitute.org/). RESULTS: Twenty-three patients with SCN variants and epilepsy have been identified. Sixteen patients had variants in the SCN1A, six patients had variants in the SCN2A, and one patient had a variant in the SCN3A. Two novel SCN1A variants and two novel SCN2A variants were identified. The analysis revealed 14/23 missense, 6/23 nonsense, 2/23 frameshift, and 1/23 splice site variants in the SCN. There are seven variants predicted to be gain-of-function and 13 predicted to be loss-of-function. Among 23 patients; 11 had Dravet Syndrome, 6 had early infantile developmental and epileptic encephalopathy, three had genetic epilepsy with febrile seizures plus spectrum disorder, one had self-limited familial neonatal-infantile epilepsy, one had self-limited infantile epilepsy and one had infantile childhood development epileptic encephalopathy. CONCLUSION: Our cohort consists of mainly SCN1 variants, most of them were predicted to be loss of function. Dravet syndrome was the most common phenotype. The prediction tool used in our study demonstrated overall compatibility with clinical findings. Due to the diverse clinical manifestations of variant functions, it may assist in guiding medication selection and predicting outcomes. We believe that such a tool will help the clinician in both prognosis prediction and solving therapeutic challenges in this group where refractory seizures are common.

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in Türkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.

Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study.

BACKGROUND: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1. METHODS: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017-2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors. RESULTS: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p < .001) and mucoid P. aeruginosa colonization (p < .001) were significantly higher in this group (p < .001). Overall mean annual ppFEV1 decline was -0.97% (95% confidence interval [CI] = -0.02 to -1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40-69) two groups (p = .004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26-2.54; p = .01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p = .038) were associated with significant ppFEV1 decline in the whole cohort. CONCLUSIONS: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression.

Does vanillic acid affect fracture healing? An experimental study in a rat model of femur fracture.

BACKGROUND AND OBJECTIVES: We aimed to determine the effects of vanillic acid (VA) on fracture healing radiologically, histologically, immunohistochemically, and biomechanically using a rat femur open fracture injury model. METHODS: 32 male Wistar-Albino rats were used and divided into two groups: the study group (VA) and the control group. From the time they were operated on until they were sacrificed, the rats in the study group were given 100 mg/kg/day VA by oral gavage. After sacrification, the femurs were analyzed. RESULTS: It was observed that the Huo histological scoring was significantly higher in the VA group (p = 0.001), and the ratio of the amount of callus tissue compared to intact bone tissue was significantly higher. While no significant difference was observed in immunohistochemical H-scores in ColI antibody staining (p = 1.000), a borderline significant difference in favor of VA was observed in ColIII antibody staining (p = 0.078). In biomechanical analysis, failure load (N), total energy (J), maximum stress (MPa), and stiffness (N/mm) measurements were significantly higher in the VA group (p = 0.040, p = 0.021, p = 0.015, and p = 0.035, respectively). CONCLUSION: It has been observed that VA, with its antioxidative properties, increases fracture healing in rats, in which an open fracture model was created. We are hopeful that such an antioxidant, which is common in nature, will increase fracture healing. Since this study is the first to examine the effect of VA on fracture healing, further studies are needed.

Membrane Receptor-Mediated Disruption of Cellular Homeostasis: Changes in Intracellular Signaling Pathways Increase the Toxicity of Ochratoxin A.

Organisms maintain their cellular homeostatic balance by interacting with their environment through the use of their cell surface receptors. Membrane based receptors such as the transforming growth factor ß receptor (TGFR), the prolactin receptor (PRLR), and hepatocyte growth factor receptor (HGFR), along with their associated signaling cascade, play significant roles in retaining cellular homeostasis. While these receptors and related signaling pathways are essential for health of cell and organism, their dysregulation can lead to imbalance in cell function with severe pathological conditions such as cell death or cancer. Ochratoxin A (OTA) can disrupt cellular homeostasis by altering expression levels of these receptors and/or receptor-associated intracellular downstream signaling modulators and/or pattern and levels of their phosphorylation/dephosphorylation. Recent studies have shown that the activity of the TGFR, the PRLR, and HGFR and their associated signaling cascades change upon OTA exposure. A critical evaluation of these findings suggests that while increased activity of the HGFR and TGFR signaling pathways leads to an increase in cell survival and fibrosis, decreased activity of the PRLR signaling pathway leads to tissue damage. This review explores the roles of these receptors in OTA-related pathologies and effects on cellular homeostasis.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

INTRODUCTION: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. METHODS: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the 'Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. RESULTS: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p = .010), lower median height z-scores (-0.87 vs. -0.55, p < .001), lower median body mass index z-scores (-0.65 vs. -0.50, p < .001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0-2] vs. 0 [IQR: 0-7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. CONCLUSION: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes.

A case of lung adenocarcinoma developing chylothorax after transthoracic Tru-cut biopsy.

Chylothoraces are mostly secondary to trauma and tumors, and rarely idiopathic. Chylothoraces secondary to lung tumors are mostly seen postoperatively. In this article, we, for the first time, present massive chylothorax developing after diagnostic transthoracic Tru-cut biopsy in a lung adenocarcinoma case. The patient was successfully treated with drainage and octreotide. In conclusion, it should be kept in mind that chylothorax can be also seen as a complication after interventional biopsy procedures; therefore, the patients should be followed carefully.

Activation of Small Molecules by Modified Dodecaborate Anions.

Two of the basic requirements of a good catalyst are that molecules be bound to it with energies intermediate between physisorption and chemisorption and be simultaneously activated in the process. Using density functional theory, we have studied the interaction of small molecules such as H2, O2, N2, CO2, CO, and NH3 with modified dodecaborate anion [B12H12]2-, namely, [B12X11]- and [B12X11]2- (X = H, F, CN). Calculations of the structure, stability, and electronic properties of these species interacting with the above molecules show that they meet the above requirements. In addition, [B12X11]2- (X = F, CN) species are not only more stable than [B12X11]- species but also bind to O2 more strongly than their monoanion counterparts.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. METHODS: We reviewed the charts of subjects with genetically confirmed childhood-onset HSP. The age at the disease onset was defined as the point at which the delayed motor milestones were observed. Delayed motor milestones were defined as being unable to hold the head up by four months, sitting unassisted by nine months, and walking independently by 17 months. If there were no delayed motor milestones, age at disease onset was determined by leg stiffness, frequent falls, or unsteady gait. Genetic testing was performed based on delayed motor milestones, progressive leg spasticity, and gait difficulty. The variant classification was determined based on the American College of Medical Genetics standard guidelines for variant interpretation. Variants of uncertain significance (VUS) were considered disease-associated when clinical findings were consistent with the previously described disease phenotypes for pathogenic variants. In addition, in the absence of another pathogenic, likely pathogenic, or VUS variant that could explain the phenotype of our cases, we concluded that the disease is associated with VUS in the HSP-causing gene. Segregation analysis was also performed on the parents of some patients to demonstrate the inheritance model. RESULTS: There were a total of 18 patients from 17 families. The median age of symptom onset was 18 months (2 to 84 months). The mean delay between symptom onset and genetic diagnosis was 5.8 years (5 months to 17 years). All patients had gait difficulty caused by progressive leg spasticity and weakness. Independent walking was not achieved at 17 months for 67% of patients (n = 12). In our cohort, there were two subjects each with SPG11, SPG46, and SPG 50 followed by single subject each with SPG3A, SPG4, SPG7, SPG8, SPG30, SPG35, SPG43, SPG44, SPG57, SPG62, infantile-onset ascending spastic paralysis (IAHSP), and spastic paraplegia and psychomotor retardation with or without seizures (SPPRS). Eight novel variants in nine patients were described. Two affected siblings had a novel variant in the GBA2 gene (SPG46), and one subject each had a novel variant in WASHC5 (SPG8), SPG11 (SPG11), KIF1A (SPG30), GJC2 (SPG44), ERLIN1 (SPG62), ALS2 (IAHSP), and HACE1 (SPPRS). Among the novel variants, the variant in the SPG11 was pathogenic and the variants in the KIF1A, GJC2, and HACE1 were likely pathogenic. The variants in the GBA2, ALS2, ERLIN1, and WASHC5 were classified as VUS. CONCLUSIONS: There was a significant delay between symptom onset and genetic diagnosis of HSP. An early diagnosis may be possible by examining patients with delayed motor milestones, progressive spasticity, gait difficulties, and neuromuscular weakness in the context of HSP. Eight novel variants in nine patients were described, clinically similar to the previously described disease phenotype associated with pathogenic variants. This study contributes to expanding the genetic spectrum of some rare subtypes of HSP.

Formulation of a fast-disintegrating drug delivery system from cyclodextrin/naproxen inclusion complex nanofibrous films.

Naproxen is a well-known non-steroidal anti-inflammatory drug (NSAID) that suffers from limited water solubility. The inclusion complexation with cyclodextrin (CD) can eliminate this drawback and the free-standing nanofibrous film (NF) generated from these inclusion complexes (ICs) can be a promising alternative formula as an orally disintegrating drug delivery system. For this, naproxen/CD IC NFs were generated using the highly water soluble hydroxypropylated derivative of ßCD (HPßCD) with two different molar ratios of 1/1 and 1/2 (drug/CD). The complexation energy calculated by the modeling study demonstrated a more favorable interaction between HPßCD and naproxen for the 1/2 molar ratio than 1/1. HPßCD/naproxen IC NFs were generated with loading concentrations of ∼7-11% and without using toxic chemicals. HPßCD/naproxen IC NFs indicated a faster and enhanced release profile in aqueous medium compared to pure naproxen owing to inclusion complexation. Moreover, rapid disintegration in less than a second was achieved in an artificial saliva environment.

High Entropy Pr-Doped Hollow NiFeP Nanoflowers Inlaid on N-rGO for Efficient and Durable Electrodes for Lithium-Ion Batteries and Direct Borohydride Fuel Cells.

The selection and design of new electrode materials for energy conversion and storage are critical for improved performance, cost reduction, and mass manufacturing. A bifunctional anode with high catalytic activity and extended cycle stability is crucial for rechargeable lithium-ion batteries and direct borohydride fuel cells. Herein, a high entropy novel three-dimensional structured electrode with Pr-doped hollow NiFeP nanoflowers inlaid on N-rGO was prepared via a simple hydrothermal and self-assembly process. For optimization of Pr content, three (0.1, 0.5, and 0.8) different doping ratios were investigated. A lithium-ion battery assembled with NiPr0.5 FeP/N-rGO electrode achieved an outstanding specific capacity of 1.61 Ah g-1 at 0.2 A g-1 after 100 cycles with 99.3 % Coulombic efficiencies. A prolonged cycling stability of 1.02 Ah g-1 was maintained even after 1000 cycles at 0.5 A g-1 . In addition, a full cell battery with NiPr0.5 FeP/N-rGO∥LCO (Lithium cobalt oxide) delivered a promising cycling performance of 0.52 Ah g-1 after 200 cycles at 0.15 A g-1 . Subsequently, the NiPr0.5 FeP/N-rGO electrode in a direct borohydride fuel cell showed the highest peak power density of 93.70 mW cm-2 at 60 °C. Therefore, this work can be extended to develop advanced electrode for next-generation energy storage and conversion systems.

Association of epilepsy with neuroimaging patterns in children with cerebral palsy.

OBJECTIVES: In this study, we examined whether epilepsy and drug-resistant epilepsy are associated with neuroimaging findings in children with cerebral palsy (CP). METHODS: Magnetic resonance imaging classification system (MRICS) proposed by Surveillance of Cerebral Palsy in Europe (SCPE) was used for classification of different MRI patterns in patients with cerebral palsy. We reviewed the brain MRI scans and medical records of children with CP who were followed-up in our clinic between 2019 and 2023. Patients were divided into three categories: CP without epilepsy, CP with controlled epilepsy and CP with DRE. MRI patterns were grouped as maldevelopments, predominant white matter injury, predominant gray matter injury, miscellaneous (delayed myelination, cerebral atrophy, cerebellar atrophy, brainstem lesions and calcifications, lesions that were not classified under any other group) and normal according to MRICS of the SCPE. RESULTS: There were 325 CP patients. The most common MRI patterns were predominant white matter injury (47.6%) and gray matter injury (23.8%). There was a 1.5-fold reduction in the risk of epilepsy in patients with predominant white matter injury (OR = 1.54, 95% CI 1.23-1.94). In contrast, children in the miscellaneous group had significantly higher risks of epilepsy (p < 0.001), and we were able to determine that miscellaneous findings increased the risk by 1.8 times (OR = 1.77, 95% CI 1.47-2.12). CONCLUSION: In conclusion, more than half of the children with CP had epilepsy, 40.7% of whom had DRE. On MRI, miscellaneous findings may indicate a poor prognosis for epilepsy, while predominant white matter injury may indicate a good outcome. Children with CP, especially those with miscellaneous findings on MRI, should be closely monitored for epilepsy development.

Single-plate versus double-plate comparison in the surgical treatment of comminuted clavicle fractures: Is the secondary plate reliable?

The objective of this study is to retrospectively assess the use of single-plate (SP) and double-plate (DP) fixation in the open reduction and internal fixation of comminuted clavicle fractures, focusing on fracture union and complications. We retrospectively evaluated comminuted diaphyseal clavicle fractures (Arbeitsgemeinschaft für Osteosynthesefragen type 15.B1-3) treated with open reduction and internal fixation and having a minimum 1-year follow-up. Two patient cohorts were identified: DP (utilizing a superiorly located clavicle-specific plate and an anteriorly located tubular plate) and SP (utilizing a superiorly located clavicle-specific plate). These groups were compared in terms of union time, peri-incisional numbness, implant irritation, return to work time, union rates, re-operation rates, Disabilities of Arm, Shoulder and Hand (DASH), and American Shoulder and Elbow Surgeons (ASES) scores. The study included 27 SP and 23 DP patients meeting the inclusion criteria. There was no significant difference between the 2 cohorts in terms of union time, peri-incisional numbness, implant irritation, return to work time, union rates, re-operation rates, DASH, and ASES scores at the end of the first year (P = .889, P = 1.00, P = .122, P = 1.00, P = 1.00, P = .493, P = .736, P = .762, P = .937 respectively). However, it was observed that the DP group showed a significantly earlier return to work time and better DASH scores at 3rd and 6th months, whereas the SP group exhibited significantly better ASES scores at 3rd and 6th months (P = .034, P = .016, P = .032, P = .036, P = .021, respectively). No significant difference was observed in terms of union and complications in acute clavicle fractures treated with SP and DP fixation. The DP group demonstrated an earlier return to work and superior early functional scores compared to the SP group. Our findings suggest that a secondary plate can be reliably used, particularly in situations where clavicle fracture fixation is insufficient or in cases of comminuted clavicle fractures.

Evaluation of Psychiatric Symptomatology, Quality of Life, and Caregiver Burden in Mothers and Children with Primary Immunodeficiency.

BACKGROUND: The present study aimed to evaluate the quality of life, depression, and anxiety scores of children with primary immunodeficiency (PID) and depression, anxiety scores, and the caregiving burden of their mothers. METHODS: A total of 149 children aged 2-18 years and their mothers were included in the present study, along with 125 healthy children and their mothers as a control group. The Pediatric Quality of Life Inventory (PedsQL), Child Depression Inventory (CDI), and Screening for Child Anxiety-Related Emotional Disorders (SCARED) questionnaire were used based on the views of children and their mothers. The Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Temperament Evaluation of Memphis, Pisa, Paris, San Diego Autoquestionnaire (TEMPS-A), and Zarit Caregiver Burden Scale (ZCB) were used for the mothers. RESULTS: According to children and their mothers, the scores of the PedsQL were lower than that of the control group (P < 0.05). In addition, according to the views of children and mothers, we found that PID children had higher depression and anxiety scores than healthy children (P < 0.05). The depression and anxiety levels of mothers in the patient group were also significantly higher than those in the control group (P = 0.05 and P = 0.001). CONCLUSION: Statistically, we found significantly lower psychosocial health summary scores and total scale score levels from the subclass of PedsQL in the patient group than in the control group. According to the views of both children and mothers, we observed that PID children had higher depression and anxiety scores than healthy children. It was also found that the BDI and BAI values in case of mothers in the patient group were significantly higher than those in the control group.

Cold-induced urticaria in children: A multicenter, retrospective cohort study.

Background: Studies of cold-induced urticaria (ColdU) in pediatric patients are limited and not well characterized. Objective: The objective of the study was to investigate the characteristics of ColdU in children. Methods: A multicenter, retrospective chart review was performed in children ages ≤18 years diagnosed with ColdU at 11 pediatric allergy and immunology centers in Turkey between September 1, 2010, and August 31, 2022. Results: A total of 83 children with ColdU were included, 54.2% were girls, and the mean age of symptom onset was 8.8 years. The median duration of ColdU at the time of diagnosis was significantly higher in the girls than in the boys (1.0 years [0.0-13.8 years] versus 0.3 years [0.0-15.0 years]; p = 0.007). All the patients underwent an ice cube test, and 71.1% were found positive (typical ColdU). The mean ± standard deviation age of onset was significantly higher in the patients with typical ColdU versus atypical patients (9.4 ± 4.5 years versus 7.3 ± 4.5 years; p = 0.041). Swimming alone and in combination with the wind were significantly the most reported triggers in patients with cold-induced anaphylaxis (ColdA) when compared with patients with ColdU and with nonanaphylactic symptoms (70.0% versus 28.9% [p = 0.022], and 50.0% versus 4.1% [p < 0.001], respectively). Only patients with other chronic urticaria were found to be associated with the development of typical ColdU (p = 0.036). The median total serum immunoglobulin E (IgE) was significantly higher in typical ColdU than in atypical patients (72.5 IU/mL [3.86 - 2500 IU/mL] versus 30.0 IU/mL [0.83 - 1215 IU/mL]; p = 0.007); however, total serum IgE differences were not found to affect ColdU resolution between the two groups (p = 0.204). The resolution was documented in 30.4%. Conclusion: Those who were boys and had a positive ice cube test result could have an association with earlier onset of ColdU. Those swimming alone on a windy day were at highest risk for ColdA. It is still unclear what characteristics are associated with the resolution of ColdU, and this warrants further investigation.

PSI Photoinhibition and Changing CO2 Levels Initiate Retrograde Signals to Modify Nuclear Gene Expression.

Photosystem I (PSI) is a critical component of the photosynthetic machinery in plants. Under conditions of environmental stress, PSI becomes photoinhibited, leading to a redox imbalance in the chloroplast. PSI photoinhibition is caused by an increase in electron pressure within PSI, which damages the iron-sulfur clusters. In this study, we investigated the susceptibility of PSI to photoinhibition in plants at different concentrations of CO2, followed by global gene expression analyses of the differentially treated plants. PSI photoinhibition was induced using a specific illumination protocol that inhibited PSI with minimal effects on PSII. Unexpectedly, the varying CO2 levels combined with the PSI-PI treatment neither increased nor decreased the likelihood of PSI photodamage. All PSI photoinhibition treatments, independent of CO2 levels, upregulated genes generally involved in plant responses to excess iron and downregulated genes involved in iron deficiency. PSI photoinhibition also induced genes encoding photosynthetic proteins that act as electron acceptors from PSI. We propose that PSI photoinhibition causes a release of iron from damaged iron-sulfur clusters, which initiates a retrograde signal from the chloroplast to the nucleus to modify gene expression. In addition, the deprivation of CO2 from the air initiated a signal that induced flavonoid biosynthesis genes, probably via jasmonate production.

Effects of Personal Protective Equipment on Speech Acoustics.

Objectives: The transmission of severe acute respiratory syndrome coronavirus-2 occurs primarily through droplets, which highlights the importance of protecting the oral, nasal, and conjunctival mucosas using personal protective equipment (PPE). The use of PPE can lead to communication difficulties between healthcare workers and patients. This study aimed to investigate changes in the acoustic parameters of speech sounds when different types of PPE are used. Methods: A cross-sectional study was conducted, enrolling 18 healthy male and female participants. They were instructed to produce a sustained [ɑː] vowel for at least 3 s to estimate voice quality. In addition, all Turkish vowels were produced for a minimum of 200 ms. Finally, three Turkish fricative consonants ([f], [s], and [ʃ]) were produced in a consonant/vowel/consonant format with different vowel contexts within a carrier sentence. Recordings were repeated under the following conditions: no PPE, surgical mask, N99 mask, face shield, surgical mask + face shield, and N99 mask + face shield. All recordings were subjected to analysis. Results: Frequency perturbation parameters did not show significant differences. However, in males, all vowels except [u] in the first formant (F1), except [ɔ] and [u] in the second formant (F2), except [ɛ] and [ɔ] in the third formant (F3), and only [i] in the fourth formant (F4) were significant. In females, all vowels except [i] in F1, except [u] in F2, all vowels in F3, and except [u] and [ɯ] in F4 were significant. Spectral moment values exhibited significance in both groups. Conclusion: The use of different types of PPE resulted in variations in speech acoustic features. These findings may be attributed to the filtering effects of PPE on specific frequencies and the potential chamber effect in front of the face. Understanding the impact of PPE on speech acoustics contributes to addressing communication challenges in healthcare settings.

Evaluation of toll-like receptors 2 and 4 polymorphism and intestinal microbiota in children with food allergies.

BACKGROUND: Mutual regulation between immune system and gut microbiota is achieved through several mechanisms including the engagement of toll-like receptors (TLRs) which is expressed on numerous cell types. In this study we aimed to explore the association between food allergies and TLR gene polymorphisms in association with gut microbiota. METHODS: Toll-like receptors polymorphism frequencies and some bacteria in the gut microbiota in 130 infants aged 1-24 months with egg and/or milk allergy in a prospective cohort were compared with 110 non-food allergic controls. Four candidate polymorphisms (TLR2 rs1898830/rs5743708 and TLR4 rs4986790/rs4986791) were genotyped by allelic discrimination polymerase chain rection (PCR) method. Gut microbiota analysis was achieved by using high-throughput sequencing. RESULTS: The TLR4 rs4986790 (Asp299Gly) single nucleotide polymorphism (SNP) major/minor allele frequency was 0.788/0.212 in food allergy patients and 0.719/0.280 in controls (p=0.017). There was a statistically significant difference between groups in terms of genotype frequencies (AA, AG, GG). Gut microbiota analysis revealed increased Firmicutes phylum in stool of the patients with food allergy. Except for TLR4 rs4986791 (Thr399lle) allele, the other TLR polymorphisms were not associated with food allergies in children. When the bacteria in the intestinal microbiota and TLR2 and TLR4 gene polymorphisms were compared; we determined a statistically significant increase in Bifidobacterium concentration in the intestinal microbiota in TLR4 rs4986791 CT heterozygous genotype (p=0.004). CONCLUSIONS: This study demonstrated a partial role of TLR4 gene polymorphism and gut microbiota in the development of food allergies. Future work in this area will be required to clarify the roles of different microbial strains that modulate gut microbiota composition and function in conjunction with TLR transcription pathways.

Effect of transported segment size on the new bone formation of the rabbit femur in the Ilizarov bone transport method.

OBJECTIVE: This study aimed to compare histological and radiological union in the bone transport of 3 segments of different sizes to reconstruct the rabbit femur's bone defects. METHODS: Thirty rabbits were divided into 3 groups; a 1-cm defect was created in the femur in all rabbits. The length of the segment to be transferred was 10% of the femur length in group 1, 15% in group 2, and 20% in group 3. All defects were reconstructed by applying bone transport. At the end of the consolidation period, the distraction zone was compared radiologically and histologically. RESULTS: While there was no radiological difference between the groups, the highest histological scores were obtained from group 3. Osteocalcin staining revealed similar involvement in groups 2 and 3, butless involvement in group 1. CONCLUSION: Evidence from this study has shown that as the size of the segment used for bone transport increases, more stable fixation and better histological union tissue can be obtained in the rabbit femoral defect model.

Catalytic Potential of [B12X11]2- (X = F, Cl, Br, I, CN) Dianions.

Dodecaborate anions ([B12H12]2-) and their derivatives where hydrogen atoms are replaced by halogen, pseudohalogen, or superhalogen moieties belong to a class of very stable species, even in the gas phase. Their stability is attributed to Wade's electron counting rule that requires n + 1 pairs of skeletal electrons, n being the number of boron atoms. Consequently, [B12X11]2- (X = H, F, Cl, Br, I, CN) dianions that carry one more electron than needed to satisfy Wade's rule should not be stable, assuming that the rule applies to fragments as well. While this is the case for X = H, we show that [B12X11]2- (X = F, Cl, Br, I, CN) dianions are stable with the second electron in [B12(CN)11]2- bound by as much as 3.17 eV. More importantly, the stability of these dianions is found to have a significant effect on the activation of gas molecules such as CO2 and N2, providing a path toward the development of new catalysts.