Single Versus 3-incision Triple Pelvic Osteotomy: Comparison of Clinical and Radiologic Results.

BACKGROUND: Triple pelvic osteotomy (TPO) is indicated when the anatomic and functional realignment of the hip joint is needed. Although the traditional approach for TPO involves a separate incision for ischial cut, there has been a trend for single-incision TPO in recent years. This study aims to compare the clinical and radiologic results of 2 different approaches. METHODS: Forty-two hips of 39 patients treated using TPO with a minimum of 24 months of follow-up were included in our cohort. Demographics, perioperative, and radiologic parameters were evaluated. Harris Hip Score and International Hip Outcome Tool were used for clinical evaluation. RESULTS: A single anterolateral incision approach was used in 18 hips (17 patients), whereas a 3-incision approach was used in 24 hips (22 patients). The mean follow-up was 4.7 years in the 3-incision group and 3.8 years in the single-incision group (P=0.43), with mean surgery age at 8.7 years (range, 5.4 to 12) for single-incision and 9.7 years (range, 7.7 to 11.7) for 3e-incision (P=0.22). There were no significant differences observed between the 2 groups concerning radiographic measurements, complications, and functional scores. The mean surgical time was 118.6 minutes in the single-incision group and 97.9 minutes in 3-incision group (P=0.036). Mean intraoperative blood loss was 181.7 ml in the single-incision group and 243.4 ml in 3-incision group (P=0.028). Three-incision group demonstrated significantly higher intraoperative blood loss, leading to lower hemoglobin values (P=0.042). CONCLUSION: The single-incision TPO demonstrated similar outcomes compared with the traditional 3-incision approach in terms of radiologic correction and functional improvement. The single-incision technique exhibited advantages such as reduced intraoperative blood loss and potential benefit of decreased pain due to fewer scars. However, it required a longer surgical time compared with the 3-incision approach. Surgeons should consider patient-specific factors and their expertise when selecting the most appropriate approach for each case. LEVEL OF EVIDENCE: Level III-retrospective comparative series.

Translation, reliability and validity of the Turkish versions of Norwich Patellar Instability score and The Banff Patellar Instability Instrument 2.0.

BACKGROUND: Current treatment options for patellofemoral (PF) instability have required functional scoring systems. The Banff Patellar Instability Instrument (BPII) 2.0 and Norwich Patellar Instability (NPI) scores were explicitly created to meet the need to evaluate PF instability. Different patient-reported outcome measurements (PROMs) are used to evaluate anterior knee problems. OBJECTIVES: To test the validity and reliability of the Turkish version of the BPII 2.0 and NPI score. STUDY DESIGN AND METHODS: Fifty-one patients that operated for PF instability, older than eighteen years old, were included in this study. Turkish translation of the BPII 2.0 and NPI scores was undertaken through translation into Turkish by an independent translator. Two tests were repeated seven days apart. Intraclass correlation coefficient (ICC) was used for test-retest reliability. Internal consistency was analyzed using Cronbach's alpha. Validity was assessed by correlating the Kujala and Lysholm knee scores. RESULTS: Fifty-one patients (34 females/17 males), the average age was 25 ± 7, were included in this study. Cronbach's alpha value was 0.829 for BPII 2.0 and 0.843 for NPI for the first time answered by patients. ICC values applied to evaluate test-retest reliability were 0.904 (p < 0.05) for BPII 2.0 and 0.915 (p < 0.05) for NPI. There was a moderate correlation between the BPII 2.0 Turkish version and the Kujala score. There was a very high correlation between the Turkish version of the BPII 2.0 and Lysholm knee scores. An excellent negative correlation was found between Norwich and Kujala scores (r = -0.819, p < 0.05). The correlation coefficient between Norwich and Lysholm scores was -0.662, indicating a high negative correlation (p < 0.05). The correlation coefficients between the Turkish version of BPII 2.0 and NPI were -0.533 (p < 0.05). CONCLUSIONS: The Turkish version of the BPII 2.0 and NPI score is a reliable and valid instrument for Turkish-speaking patients with patellofemoral instability.

Improving health-care planning for fracture patients in Türkiye: insights from a nationwide study.

BACKGROUND: The distribution of fractures may vary according to age and gender. In a country like Türkiye, which has high population density and covers a large geographical area, it is important to understand the regional variations in fractures and identify the health institutions in which patients seek treatment to plan new health-care investments effectively. The objective of our study was to investigate the distribution of fractures across the seven regions of Türkiye considering age, gender, and the level of health institutions the patients visited. METHODS: Between January 2021 and May 2023, the total number of fractures, locations of the fractures, patient age and gender, geographical regions, and levels of the health-care institutions to which the patients presented were examined through the e-Nabiz personal health record system. Age groups were divided into pediatric (0-19 years), adult (20-64 years), and geriatric (≥65 years) categories. Geographical regions included the Marmara, Central Anatolia, Black Sea, Eastern Anatolia, Aegean, Mediterranean, and Southeastern Anatolia regions. RESULTS: A total of 2,135,701 patients with 2,214,213 fractures were analyzed. Upper extremity fractures were the most common among all considered fracture groups (1,154,819 fractures, 52.2%). There were 643,547 fractures in the pediatric group, 1,191,364 fractures in the adult group, and 379,302 fractures in the geriatric group. While the total number of fractures was higher among men with 1,256,884 fractures (58.9%), the rate among women was higher in the geriatric group (67.2%). Geographically, the highest number of fractures was observed in the Marmara region (714,146 fractures), and 67.92% of all patients presented to secondary health-care institutions (1,500,780 fractures). The most commonly diagnosed fracture in the study population was distal radius fractures. The most common fracture in the geriatric group was femur fractures while distal radius fractures were the most common fractures in the adult and the pediatric groups. CONCLUSION: By understanding the distribution of fractures in Türkiye based on fracture site, geographical region, age, and gender, it becomes possible to improve the planning of patient access to health-care services. In regions with limited health resources, a more successful resource distribution can be achieved by considering fracture distributions and age groups.

Parenting Styles and Practices in Enhancing Self-Determination of Children With Intellectual and Developmental Disabilities.

Parenting styles and practices are crucial in promoting the self-determination of children. The purpose of the current study was to investigate the role of parenting styles and practices in enhancing the self-determination of children with/without intellectual and developmental disabilities (IDD). The present study was carried out with a sample of 243 parents of children with/without IDD in Türkiye (Turkey). The results indicated that an authoritative parenting style and autonomy-supportive parenting practices positively affect the degree of child self-determination, whereas permissive and overprotective parenting practices may limit child opportunities in fostering self-determination. The study results also showed that urbanization, higher income, and higher education level of parents positively impacted the degree of child self-determination. Parents of typically developing children reported higher levels of overall self-determination for their typically developing children when compared with children with intellectual disability and autism spectrum disorder. On the other hand, parents of children with mild disabilities reported a higher level of self-determination than both children with moderate and severe disabilities. The results were discussed within the cultural context of the current sample.

First molecular detection of Entamoeba gingivalis subtypes in individuals from Turkey.

Entamoeba gingivalis is a parasitic protozoan that colonizes the human oral cavity and there are two subtypes (ST1 and ST2) that have been identified to date. However, there are no reports on the molecular detection or characterization of E. gingivalis in Turkey. The objective of this study was to detect the presence of E. gingivalis in Turkish healthy individuals and those with periodontal disease and to subtype the isolates using molecular techniques. Samples from the oral cavity of 94 individuals were taken and the presence of E. gingivalis was determined by PCR using primers for SsrRNA and the amplicons were then confirmed by DNA sequencing. Each participant completed a questionnaire that included demographic data, habits and lifestyle, as well as health status. The presence of E. gingivalis was detected in a total of 19 samples (11 patients and eight healthy individuals). Molecular characterization determined that 12 samples belonged to ST1 and seven samples belonged to ST2. The presence of E. gingivalis was higher in patients with periodontal disease than in healthy individuals, and this association was statistically significant (P < .05). This study constitutes the first report of molecular detection and subtyping of E. gingivalis in Turkey.

Fixation techniques in lower extremity correction osteotomies and fractures in mild-to-severe osteogenesis imperfecta patients: evaluation of the results and complications.

INTRODUCTION: Osteogenesis imperfecta is a genetic disorder leading to multiple fractures and deformities. Intramedullary rods have been used in the surgical treatment of osteogenesis imperfecta for decades. Complication rates reported by current techniques have been high. This study aimed to examine the results of intramedullary fixation combined with plate and screw technique in patients with osteogenesis imperfecta compared to isolated intramedullary fixation. METHODS: Between 2006 and 2020, forty patients who had surgical treatment for deformities or fractures of the femur, tibia or both with at least two years of follow-up after surgery were included in the study. Patients were divided into groups according to fixation methods. Group 1 was intramedullary fixation only (Titanium Elastic Nail [TEN], Rush Pin, and Fassier-Duval Rod), and Group 2 was intramedullary fixation combined with plate and screws. Medical records and follow-up radiographs were reviewed to evaluate healing and callus formation, types of complications and infection rates. RESULTS: The total number of operated lower extremities of these forty patients was 61 (45 femur and 16 tibia). The mean age of the patients was 9.3 ± 4.6 years. Mean follow-up duration of the patients was 4.4 ± 1.7 years. Thirty-seven (61%) were in Group 1, and 24 (39%) were in Group 2. There was no statistically significant difference in callus formation time between Group 1 and Group 2 (p = 0.67). Complications occurred in 21 of 61 surgeries. While 17 of these complications were in Group 1, 4 were in Group 2 (p = 0.01). CONCLUSION: Intramedullary fixation combined with the plate and screw technique in children with osteogenesis imperfecta is successful considering the complications and revision requirements.

Accuracy of the hexapod external fixator in treating tibial angular deformities with or without limb length discrepancy: a retrospective study.

OBJECTIVE: Hexapod external fixator systems allow simultaneous deformity correction in multiple planes as well as limb lengthening. The aim of this study is to evaluate the accuracy of a hexapod frame (smart correction frame) in different types of tibial deformities requiring correction with or without lengthening. METHODS: A total of 54 tibial angular deformities and limb length discrepancies operated with a hexapod frame between January 2015 and January 2021 were classified into four groups: "Group A ( n  = 13): only lengthening," "Group B ( n  = 14): lengthening and uniplanar correction," "Group C ( n  = 16): only uniplanar correction," and "Group D ( n  = 11): biplanar correction." The accuracy of angular deformity correction/lengthening was calculated by dividing the actual correction/lengthening achieved after frame removal by the preoperative planned lengthening/correction. RESULTS: The lengthening accuracy in Group A and Group B was 96.3 ±â€…7.1% and 95.7 ±â€…5.9%, respectively ( P  = 0.685). The angular deformity correction accuracy was 85.1 ±â€…9.9% for Group B, 85.2 ±â€…13.9% for Group C, and 80.2 ±â€…18.4% for Group D ( P  = 0.852). A revision program was performed in six cases (1 in Group B, 1 in Group C, and 4 in Group D) for full correction of the deformities. CONCLUSION: The accuracy of tibial lengthening is high with the hexapod frame and is minimally affected by simultaneous deformity correction; however, the accuracy of angular correction slightly reduces as the deformity becomes more complex. Surgeons should be aware that reprogramming may be required after complex deformity correction.

Molecular Characterization of Clarithromycin Resistance in Helicobacter pylori Strains.

BACKGROUND: The purpose of this study was to determine the antimicrobial status of stocked clinical Helicobacter pylori isolates by using antibiotic gradient test and subsequently identify the mutations that cause clarithromycin resistance by DNA sequencing. Turkey is a transition zone between Europe and Asia; therefore, we also aimed to show both continents' mutations in Turkish isolates. METHODS: One hundred forty-seven H. pylori isolates that had been stocked at -80°C between 1998 and 2008 were randomly selected and included in the study. Antibiotic susceptibility tests were performed using antibiotic gradient test for clarithromycin, amoxicillin, tetracycline, metronidazole, and levofloxacin. A polymerase chain reaction targeting the region of 23S rRNA gene domain V of H. pylori was performed and the mutations responsible for resistance against clarithromycin were defined by sequencing. RESULTS: All of the tested isolates were found susceptible to amoxicillin and tetracycline. However, clarithromycin, metronidazole, and levofloxacin resistance were detected in 28.5% (42/147), 44.8% (66/147), and 23.1% (34/147) of the isolates, respectively. Point mutations were detected in 46 isolates (46/147, 31.2%). The majority of mutations were defined as A2143G (19/46, 41.3%), A2142G (14/46, 30.4%), and A2142C (7/46, 15.2%), respectively. T2188C, T2182C, G1949A, G1940A, and C1944T mutations were also identified in the isolates. CONCLUSION: In conclusion, the most common mutations associated with clarithromycin resistance in H. pylori have been identified as A2143G, A2142G, and A2142C which are the most frequently detected mutations in European countries. Same mutations and other mutations like T2182C have also been detected frequently in north-eastern countries and China. Since Turkey is a transition zone between Europe and Asia, Turkey might have strains that carry mutations found in both continents.

Soil to plant transfer of 226Ra, 232Th and 137Cs to some medicinal and aromatic plants growing in Bitlis (Turkey).

Medicinal plants consumed in Bitlis were analysed for 226Ra, 232Th and 137Cs using HPGe gamma spectroscopy system. Both plant samples and the corresponding soils were analysed. Using these values, the transfer factors for 226Ra, 232Th and 137Cs were calculated in the ranges of (0.09-2.18), (0.01-0.19) and (0.01-2.8), respectively. Based on the plant concentrations observed, unless consumed in excessive amounts, these medicinal plants do not have any radiological harm to health.

Parental habitus in promoting self-determination of children with/without intellectual and developmental disabilities in Türkiye.

BACKGROUND: Enhancing the self-determination of children with intellectual and developmental disabilities (IDD) is a prominent factor in their daily, community, school, or post-school outcomes. Parental practices play a crucial role in promoting self-determination of children with IDD. Families worldwide engage in parenting practices determined by each family's beliefs and values filtered through cultural experiences related to the place of origin, social structure, and living area. AIMS: This study investigated the impact of parental habitus as structured within social and cultural capital on family ratings of child self-determination in two distinct regions of Turkey (Türkiye). Our assumption is that the gap in terms of social, economic, and cultural capital between different districts of the same country affects parental habitus in fostering their children's self-determination. METHOD: Researchers collected information from 232 family members regarding the degree of their children's self-determination in two different geographic areas of Türkiye. We used the American Institutes for Research (AIR) Self-Determination Scale - Parent Form (AIR-SDS-PF questionnaire and a socio-demographic form to collect data. We employed the univariate analysis (two-way ANOVA) to identify the main and interactional effect among variables. RESULTS: Parental habitus depending on where families live, socioeconomic level, and child's disability status was influential in promoting self-determination for their children with IDD and counterparts. CONCLUSIONS: Regional or micro-cultural differences impacting parental dispositions should be considered in developing or planning self-determination interventions for children with/without IDD in the same country.

Evaluation of children and adolescent with cystic fibrosis by pancreatic elastography.

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessively inherited disease. Clinical findings vary by age of the patient, the organ systems involved, and the severity of the CFTR gene mutation. Pancreatic and liver involvement is prominent and exocrine pancreatic insufficiency is observed in the majority of patients. Point shear wave elastography (pSWE) is a non-invasive method that can quantitatively determine tissue elasticity and stiffness. In this study, the morphological evaluation of the pancreas was performed using the pSWE technique in pediatric patients diagnosed with CF. The effectiveness of this method for the early detection of pancreatic insufficiency was investigated. METHODS: Fifty-five patients with CF (24 girls, 31 boys) and 60 healthy children (29 girls, 31 boys) without any chronic diseases and who were suitable for the pSWE examination were included in the study. RESULTS: The mean value of pSWE was 1.12 ± 0.16 in the healthy group and 0.97 ± 0.16 in the patients with cystic fibrosis. There was a statistically significant difference between the two groups (P < 0.001). Significant negative correlations were found between pSWE and age (r = -0.319; P = 0.018), height (r = -0.293; P = 0.03), serum glucose (r = -0.346; P = 0.01), HbA1C (r = -0.592; P = 0.02), and duration of the disease (r = -0.806; P < 0.001). CONCLUSIONS: Investigating pancreatic elasticity and detecting pancreatic insufficiency using pSWE (a simple, inexpensive, and non-invasive method) in the early period before overt laboratory and clinical symptoms of EPI appear can contribute positively to long-term results in young patients with CF.

Does Covid-19 in children have a milder course than Influenza?

BACKGROUND: In December 2019, a novel type of coronavirus infection emerged in the Wuhan province of China and began to spread rapidly. In this study, we aimed to determine the differences between COVID-19 disease and Influenza. METHODS: This retrospective study included 164 children with COVID-19, as well as 46 children with Influenza. The two groups were compared with respect to clinical and laboratory parameters and the rates of intensive care and mechanical ventilation requirement. RESULTS: In both groups, the most common admission complaints were fever and cough. As compared to the COVID-19 group, the Influenza group had significantly higher rates of cough (37 [80.4%] and 38 [23.2%]), fever (31 [67.4%] and 34 [20.7%]), muscle pain (34 [73.9%] and 31 [18.9%]), vomiting (13 [28.9%] and 8 [4.9%]) and tachypnea (32 [69.6%] and 3 [1.8%]) (P < .01 for all comparisons). The mean WBC count (7.10 ± 1.08 vs. 10.90 ± 1.82), mean neutrophil count (3.19 ± 0.58 vs. 6.04 ± 0.97), APTT, CRP, procalcitonin, ALT, and LDH levels were significantly lower in the COVID-19 group compared to the Influenza group (P < .05 for all comparisons). There was, however, no significant difference between the mean lymphocyte counts of both groups. The Influenza group had significantly higher rates of intensive care requirement (19 [41.3%] vs. 3 [1.8%]) and mechanical ventilation requirement (16 [34.8%] vs. 2 [1.2%]) as well as a significantly higher mortality rate (7 [15.2%] vs. 2 [1.2%]) than the COVID-19 group (P < .01). CONCLUSION: COVID-19 and Influenza may share similar clinical features. According to our findings, however, we believe that COVID-19 disease has a milder clinical and laboratory course than Influenza in children.

[New Hopes in Vaccine Technology: mRNA Vaccines]. / Asi Teknolojisinde Yeni Umutlar: mRNA Asilari.

The major disadvantages of traditional virus vaccines are time constraints in development and difficulties in large-scale production. Therefore, there is a need to develop stronger and more versatile vaccine platforms. mRNA vaccines constitute a promising alternative to traditional vaccine approaches due to their high potential, rapid development capacity, low cost production and safe administration potential. Stability and translation of mRNA are crucial for a successful RNA vaccine. It is critical to determine mRNA purity, stability, and protein yield during the translation process. Therefore, engineering the RNA sequence, such as modification of the 5' cap structure, extension of the poly (A) tail, editing nucleotide sequences in non-coding (UTR) and coding (ORF) regions, or incorporating modified nucleotides into the structure, makes synthetic mRNA more translatable. Two classes of non-replicating and self-amplifying mRNA are used as vaccines. While non-replicating mRNA only encodes protein antigens of interest, self-amplifying mRNA also encodes proteins required for RNA replication. The transfer and formulation of mRNA vaccines to cells is crucial for determining the kinetics of antigen expression, protein amount, and strength of immune response. In order to achieve this success, mRNA vaccines are given to cells in various formats such as lipid nanoparticles, polymers, peptides, and naked mRNA to develop the most effective transfer material. Recent technological advances have eliminated the low efficiency in in vivo transfer and translation and have made this vaccine platform widespread in preclinical and clinical trials against various infectious diseases and cancers. Over the past decade, major technological innovations have made mRNA a promising therapeutic tool in the fields of vaccine development and protein replacement therapy. Nowadays, antigens, neutralizing antibodies and proteins with immunostimulating activity have become coded by mRNA vaccines. Although many mRNA vaccines appear to be effective in preclinical and clinical studies, there are still some issues to be improved in terms of transfer efficiency, targeting to specific cell types, and the reliability of transfer devices. In this review, the latest developments and current challenges in the optimization, formulation and transfer of mRNA vaccines to cells with future development perspectives have been reviewed.

Excision of fibrous band and application of tension band plating in focal fibrocartilaginous dysplasia: A case report and literature review.

Focal fibrocartilaginous dysplasia (FFCD) is a rare disease that can cause angular deformities of long bones. The common pathologic finding is a thick fibrotic band extending from epiphysis to metaphysis on one side of the bone. The tethering effect of the fibrotic band around the growth plate is thought to be the main etiology for the development and progression of the deformity. FFCD mostly affects the proximal tibia and the distal femur. The literature contains different treatment options. Here, we present the case of a 20-month-old girl with FFCD on the medial side of the distal femur causing varus deformity. Our treatment protocol included excision of the fibrotic band from the medial side and application of a two-hole plate for guided growth on the lateral side of the distal femur. Deformity correction was achieved rapidly with no complications. A literature review is also presented along with pathologic and magnetic resonance imaging findings.

Analysis of Mitochondrial DNA Control Region D-Loop in Gliomas: Result of 52 Patients.

AIM: To investigate the effect of mitochondrial DNA (mtDNA) variants mainly in D-loop on glioma biology. MATERIAL AND METHODS: Sanger sequencing of D-loop (15971?16451 bp) for 52 glioma patients was performed and the variations were statistically analyzed for gender, WHO classification, morphological grade, IDH/TERT status. RESULTS: Total of 122 variations (51 unique) were identified in 52 patients. C16223T, T16189C, T16311C and T16126C variants were frequently detected. The total variation number was statistically non-significant among the analyzed categories. When individual variants were considered, T16311C and T16224C were statistically significant for WHO classification (p=0.033), morphological grade (p=0.036) and gender (p=0.039), respectively. CONCLUSION: Total variation number in D-loop was not found to be related with clinical variables. Our data suggests that individual variants may play a critical role in glioma biology.

Familial Mediterranean fever-related miR-197-3p targets IL1R1 gene and modulates inflammation in monocytes and synovial fibroblasts.

Familial Mediterranean fever (FMF); is an autosomal recessively inherited autoinflammatory disease caused by the mutations in the Mediterranean Fever (MEFV) gene. Recent studies have shown that epigenetic control mechanisms, particularly non-coding RNAs, may play a role in the pathogenesis of autoinflammation. microRNAs (miRNAs) are small non-coding RNAs that play critical roles in regulating host gene expression at the post-transcriptional level. The phenotypic heterogeneity of FMF disease suggests that FMF may not be a monogenic disease, suggesting that epigenetic factors may affect phenotypic presentation. Here we examined the potential anti-inflammatory effect of miR-197-3p, which is a differentially expressed miRNA in FMF patients, by using inflammation related functional assays. We monitored gene expression levels of important cytokines, as well as performed functional studies on IL-1ß secretion, caspase-1 activation, apoptosis assay, and cell migration assay. These experiments were used to evaluate the different stages of inflammation following pre-miR-197 transfection. Anti-miR-197 transfections were performed to test the opposite effect. 3'UTR luciferase activity assay was used for target gene studies. Our results obtained by inflammation-related functional assays demonstrated an anti-inflammatory effect of miR-197-3p in different cell types (synovial fibroblasts, monocytes, macrophages). 3'UTR luciferase activity assay showed that miR-197-3p directly binds to the interleukin-1beta (IL-1ß) receptor, type I (IL1R1) gene, which is one of the key molecules of the inflammatory pathways. This study may contribute to understand the role of miR-197-3p in autoinflammation process. Defining the critical miRNAs may guide the medical community in a more personalized medicine in autoinflammatory diseases.

Characterization of local SARS-CoV-2 isolates and pathogenicity in IFNAR-/- mice.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) recently a global pandemic with unprecedented public health, economic and social impact. The development of effective mitigation strategies, therapeutics and vaccines relies on detailed genomic and biological characterization of the regional viruses. This study was carried out to isolate SARS-CoV-2 viruses circulating in Anatolia, and to investigate virus propagation in frequently-used cells and experimental animals. We obtained two SARS-CoV-2 viruses from nasopharngeal swabs of confirmed cases in Vero E6 cells, visualized the virions using atomic force and scanning electron microscopy and determined size distribution of the particles. Viral cytopathic effects on Vero E6 cells were initially observed at 72 h post-inoculation and reached 90% of the cells on the 5th day. The isolates displayed with similar infectivity titers, time course and infectious progeny yields. Genome sequencing revealed the viruses to be well-conserved, with less than 1% diversity compared to the prototype virus. The analysis of the viral genomes, along with the available 62 complete genomes from Anatolia, showed limited diversity (up to 0.2% on deduced amino acids) and no evidence of recombination. The most prominent sequence variation was observed on the spike protein, resulting in the substitution D614G, with a prevalence of 56.2%. The isolates produced non-fatal infection in the transgenic type I interferon knockout (IFNAR-/-) mice, with varying neutralizing antibody titers. Hyperemia, regional consolidation and subpleural air accumulation was observed on necropsy, with similar histopathological and immunohistochemistry findings in the lungs, heart, stomach, intestines, liver, spleen and kidneys. Peak viral loads were detected in the lungs, with virus RNA present in the kidneys, jejunum, liver, spleen and heart. In conclusion, we characterized two local isolates, investigated in vitro growth dynamics in Vero E6 cells and identified IFNAR-/- mice as a potential animal model for SARS-CoV-2 experiments.

Gut Microbiota and Oral Contraceptive Use in Overweight and Obese Patients with Polycystic Ovary Syndrome.

CONTEXT: Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder. Emerging animal and human data point to various changes in microbiota that could be linked with the syndrome. However, the effects of therapeutic approaches on gut microbial composition in women with PCOS remain unknown. OBJECTIVE: We aimed to assess whether gut microbial composition is altered in PCOS and to determine the potential impact of oral contraceptive (OC) use on gut microbiota. DESIGN: Prospective observational study. SETTING: Tertiary referral hospital. PATIENTS AND OTHER PARTICIPANTS: The study included 17 overweight/obese patients with PCOS and 15 age- and body mass index-matched healthy control women. MAIN OUTCOME MEASURES: At baseline, clinical, hormonal, and metabolic evaluations and gut microbial composition assessment by 16S rRNA gene amplicon sequencing were performed for both groups. All measurements were repeated in patients after receiving an OC along with general lifestyle advice for 3 months. RESULTS: Alpha and beta diversity did not show a difference between patients with PCOS and healthy controls at baseline and remained unaltered after 3 months of OC use in the PCOS group. Relative abundance of Ruminococcaceae was higher in PCOS (P = 0.006) and did not show a significant change after treatment. CONCLUSION: Women with PCOS have an increased abundance of Ruminococcaceae, whereas short-term OC use does not alter compositional features of gut microbiota in the syndrome.

Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.

BACKGROUND: Cystic fibrosis, the most prevalent autosomal recessive genetic disease, is caused by mutations in the CFTR gene. The spectrum and frequency of CFTR mutations in Turkish patients show heterogeneity. METHODS: We investigated CFTR gene mutations in samples from 604 cystic fibrosis patients diagnosed at Hacettepe University, the largest referral CF center in Turkey, by different techniques such as strip assay and direct sequencing. We also analyzed the effects of novel variants and predicted pathogenicity by integrating information from different insilico tools. RESULTS: We showed that mutation detection rate increased to 76.7% with direct sequencing of the coding region and exon/intron boundaries. Ten variants were described for the first time. All variants except T788R were reported as pathogenic. CONCLUSION: Characterization of patients with CFTR mutations that occur at very low frequencies is necessary for mutation-based treatments. Population specific genetic screening panels should be designed since none of them are suitable for Turkish patients due to heterogeneous mutation distribution. The preliminary data obtained from in silico results of novel variants will pave the way for functional analysis by using samples obtained from patients. These observations will facilitate the discovery and development of new targeted and personalized therapies.

A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters.

A genetic mutation was detected by our clinic in two sisters in a family with low iron levels and mild symptoms. We identified this missense mutation in the FTL gene (c.473T > C; p.Pro158Leu, rs374486686) of the sisters who had weakness symptom and low serum ferritin level. This mutation causes the codon CCG changing into CTG, thus composing an amino acid substitution in which proline 158 is replaced by leucine. The patients with this mutation had unmeasurable serum ferritin levels while other iron parameters' levels are normal. As a result of this mutation, we demonstrated that ferritin connects iron however it can not store iron.