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Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty-seven patients admitted between 1997 and 2022 were included in the study. Two hundred twenty patients were analyzed by multiplex PCR (mPCR) alone. Five hundred ninety-five patients were investigated by multiplex ligation-dependent probe amplification (MLPA), and 54 patients were examined by sequencing. Deletion was detected in 60% (132/220) of the cases in the mPCR group only and in 58.3% (347/595) of the cases with MLPA analysis. The rates of deletion and duplication were 87.7% and 12.3%, respectively, in the MLPA analysis. Single exon deletions were the most common mutation type. The introns 43-55 (81.8%) and exons 2-21 (13.1%) regions were detected as hot spots in deletions. It was determined that 89% of the mutations were suitable for exon skipping therapy. The reading frame rule did not hold in 7.6% of D/BMD cases (17/224). We detected twenty-five pathogenic/likely pathogenic variants in sequencing, five of which were novel variants. Nonsense mutation was the most common small mutation (44%). 21% of DMD patients were familial. We detected germline mosaicism in four families (4.3%) in the large rearrangement group and one gonosomal mosaicism in a family with a nonsense mutation. This is the largest study examining genotype and phenotype data in Turkish D/BMD families investigated by MLPA analysis. The reading frame hypothesis is not valid in all cases. Sharing the genotype and phenotype characteristics of these cases in the literature will shed light on the molecular structure of DMD and guide gene therapy research. In genetic counseling, carrier screening in the family and possible gonadal mosaicism should be emphasized.
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Distrofina , Éxons , Distrofia Muscular de Duchenne , Fenótipo , Humanos , Distrofia Muscular de Duchenne/genética , Turquia , Masculino , Distrofina/genética , Criança , Feminino , Adolescente , Pré-Escolar , Éxons/genética , Estudos de Associação Genética/métodos , Mutação , Adulto , Genótipo , Adulto Jovem , Reação em Cadeia da Polimerase MultiplexRESUMO
Between 2013 and 2017, the A/Anhui/1/13-lineage (H7N9) low-pathogenicity avian influenza virus (LPAIV) was epizootic in chickens in China, causing mild disease, with 616 fatal human cases. Despite poultry vaccination, H7N9 has not been eradicated. Previously, we demonstrated increased pathogenesis in turkeys infected with H7N9, correlating with the emergence of the L217Q (L226Q H3 numbering) polymorphism in the haemagglutinin (HA) protein. A Q217-containing virus also arose and is now dominant in China following vaccination. We compared infection and transmission of this Q217-containing 'turkey-adapted' (ty-ad) isolate alongside the H7N9 (L217) wild-type (wt) virus in different poultry species and investigated the zoonotic potential in the ferret model. Both wt and ty-ad viruses demonstrated similar shedding and transmission in turkeys and chickens. However, the ty-ad virus was significantly more pathogenic than the wt virus in turkeys but not in chickens, causing 100 and 33% mortality in turkeys respectively. Expanded tissue tropism was seen for the ty-ad virus in turkeys but not in chickens, yet the viral cell receptor distribution was broadly similar in the visceral organs of both species. The ty-ad virus required exogenous trypsin for in vitro replication yet had increased replication in primary avian cells. Replication was comparable in mammalian cells, and the ty-ad virus replicated successfully in ferrets. The L217Q polymorphism also affected antigenicity. Therefore, H7N9 infection in turkeys can generate novel variants with increased risk through altered pathogenicity and potential HA antigenic escape. These findings emphasize the requirement for enhanced surveillance and understanding of A/Anhui/1/13-lineage viruses and their risk to different species.
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Galinhas , Furões , Subtipo H7N9 do Vírus da Influenza A , Influenza Aviária , Perus , Animais , Perus/virologia , Influenza Aviária/virologia , Influenza Aviária/transmissão , Subtipo H7N9 do Vírus da Influenza A/genética , Subtipo H7N9 do Vírus da Influenza A/patogenicidade , Galinhas/virologia , Virulência , China/epidemiologia , Doenças das Aves Domésticas/virologia , Doenças das Aves Domésticas/transmissão , Glicoproteínas de Hemaglutininação de Vírus da Influenza/genética , Humanos , Eliminação de Partículas Virais , Replicação Viral , Zoonoses/virologia , Influenza Humana/virologia , Influenza Humana/transmissãoRESUMO
IMPORTANCE: Birds represent important hosts for numerous viruses, including zoonotic viruses and pathogens with the potential to cause major economic losses to the poultry industry. Viral replication and transmission can be inhibited or blocked by the action of antiviral restriction factors (RFs) encoded by the host. One well-characterized RF is tetherin, a protein that directly blocks the release of newly formed viral particles from infected cells. Here, we describe the evolutionary loss of a functional tetherin gene in two galliform birds, turkey (Meleagris gallopavo) and Mikado pheasant (Syrmaticus mikado). Moreover, we demonstrate that the structurally related protein TMCC(aT) exerts antiviral activity in several birds, albeit by a mechanism different from that of tetherin. The evolutionary scenario described here represents the first documented loss-of-tetherin cases in vertebrates.
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Proteínas Ligadas por GPI , Galliformes , Animais , Antígenos CD/genética , Antígenos CD/metabolismo , Evolução Biológica , Antígeno 2 do Estroma da Médula Óssea/genética , Proteínas Ligadas por GPI/genética , Proteínas Ligadas por GPI/metabolismo , Galliformes/genética , Evolução Molecular , Proteínas Aviárias/genética , Proteínas Aviárias/metabolismoRESUMO
BACKGROUND: Lichens, traditionally considered as a simple partnership primarily between mycobiont and photobiont, are, in reality, complex holobionts comprised of a multitude of microorganisms. Lichen mycobiome represents fungal community residing within lichen thalli. While it is acknowledged that factors like the host lichen species and environmental conditions influence the structure of the lichen mycobiome, the existing research remains insufficient. To investigate which factor, host genus or location, has a greater impact on the lichen mycobiome, we conducted a comparative analysis of mycobiomes within Parmelia and Peltigera collected from both Turkey and South Korea, using high-throughput sequencing based on internal transcribed spacer region amplification. RESULTS: Overall, the lichen mycobiome was dominated by Capnodiales (Dothideomycetes), regardless of host or location. At the order level, the taxonomic composition was not significantly different according to lichen genus host or geographical distance. Hierarchical clustering of the top 100 abundant ASVs did not clearly indicate whether the lichen mycobiome was more influenced by host genus or location. Analyses of community similarity and partitioning variables revealed that the structure of the lichen mycobiome is more significantly influenced by location than by host genus. When analyzing the core mycobiome by host genus, the Peltigera mycobiome contained more ASV members than the Parmelia mycobiome. These two core mycobiomes also share common fungal strains, including basidiomycete yeast. Additionally, we used chi-squared tests to identify host genus-specialists and location-specialists. CONCLUSIONS: By comparing lichen mycobiomes of the same genera across different countries, our study advances our comprehension of these microbial communities. Our study elucidates that, although host species play a contributory role, geographic distance exerts a more pronounced impact on the structure of lichen mycobiome. We have made foundational contributions to understanding the lichen mycobiome occupying ecologically crucial niches. We anticipate that broader global-scale investigations into the fungal community structures will provide more detailed insights into fungal residents within lichens.
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DNA Fúngico , Líquens , Micobioma , República da Coreia , Turquia , Líquens/microbiologia , Líquens/classificação , DNA Fúngico/genética , Ascomicetos/classificação , Ascomicetos/isolamento & purificação , Ascomicetos/genética , Sequenciamento de Nucleotídeos em Larga Escala , Filogenia , Fungos/classificação , Fungos/isolamento & purificação , Fungos/genética , Parmeliaceae/genéticaRESUMO
BACKGROUND: The incidence of psychotic disorders varies in different geographic areas. As there has been no report from Turkey, this study aimed to provide the treated incidence rate of first-episode psychosis (FEP) in a defined area. METHODS: All individuals, aged 15-64 years, presenting with FEP (ICD-10 F20-29, F30-33) to mental health services in a defined catchment-area in Sinop which is located in the Black Sea region of the northern Turkey were recorded over a 4-year period (2009 to 2012). Incidence rates of psychotic disorders and their 95% confidence intervals (CIs) were estimated. Poisson regression was applied to estimate the differences in incidence rate ratio (IRR) by age, sex, and urbanicity. RESULTS: One hundred and fifteen FEP participants were identified during the 4 years. Crude incidence rates of all psychoses, schizophrenia, other psychotic disorders, and affective psychotic disorders were respectively 38.5 (95% CI 27.1-49.9), 10.7 (95% CI 6.6-14.8), 10.0 (95% CI 5.7-14.3) and 17.7 (95% CI 11.3-24.2) per 100 000 person-years. After age-sex standardisation the rates increased slightly. There were no gender differences in the incidence rates. IRR of any psychotic disorder was highest in the youngest age group (15-24 years) compared to the oldest age group (55-64 years), 7.9 (95% CI 2.8-30.5). In contrast with previous studies, the incidence rate of any psychotic disorder was not significantly increased in urban areas compared with rural areas. CONCLUSIONS: The current study, the first of its kind from Turkey, indicates that the risk of schizophrenia and other psychotic disorders in a lowly urbanised area of Turkey is comparable to those reported in Western European cities.
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Transtornos Psicóticos , Esquizofrenia , Humanos , Incidência , Turquia/epidemiologia , Transtornos Psicóticos/psicologia , Esquizofrenia/epidemiologia , Transtornos Psicóticos AfetivosRESUMO
BACKGROUND: Hemorrhagic enteritis, caused by Turkey Hemorrhagic Enteritis Virus (THEV), is a disease affecting turkey poults characterized by immunosuppression and bloody diarrhea. An avirulent THEV strain that retains the immunosuppressive ability is used as a live vaccine. Characterizing the splice map of THEV is an essential step that would allow studies of individual genes mediating its immunosuppressive functions. We used RNA sequencing to characterize the splice map of THEV for the first time, providing key insights into the THEV gene expression and mRNA structures. METHODS: After infecting a turkey B-cell line with the vaccine strain, samples in triplicates were collected at 4-, 12-, 24-, and 72-hours post-infection. Total RNA was extracted, and poly-A-tailed mRNA sequenced. Reads were mapped to the THEV genome after trimming and transcripts assembled with StringTie. We performed PCR of THEV cDNA, cloned the PCR products, and used Sanger sequencing to validate all identified splice junctions. RESULTS: Researchers previously annotated the THEV genome as encoding 23 open reading frames (ORFs). We identified 29 spliced transcripts from our RNA sequencing data, all containing novel exons although some exons matched some previously annotated ORFs. The three annotated splice junctions were also corroborated by our data. During validation we identified five additional unique transcripts, a subset of which were further validated by 3' rapid amplification of cDNA ends (3' RACE). Thus, we report that the genome of THEV contains 34 transcripts with the coding capacity for all annotated ORFs. However, we found six of the previously annotated ORFs to be truncated ORFs on the basis of the identification of an in-frame upstream start codon or the detection of additional coding exons. We also identified three of the annotated ORFs with longer or shorter isoforms, and seven novel unannotated ORFs that could potentially be translated; although it is beyond the scope of this manuscript to investigate whether they are translated. CONCLUSIONS: Similar to human adenoviruses, all THEV transcripts are spliced and organized into five transcription units under the control of their cognate promoters. The genes are expressed under temporal regulation and THEV also produces multiple distinctly spliced transcripts that code for the same protein. Studies of the newly identified potential proteins should be urgently performed as these proteins may have roles in THEV-induced immunosuppression. Also, knowing the splicing of THEV genes should be invaluable to future research focusing on studying THEV genes, as this will allow accurate cloning of the mRNAs.
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Fases de Leitura Aberta , Perus , Animais , Perus/virologia , Coronavirus do Peru/genética , RNA Mensageiro/genética , Splicing de RNA , Genoma Viral , Linhagem Celular , RNA Viral/genética , Doenças das Aves Domésticas/virologia , Análise de Sequência de RNARESUMO
Turkey litter waste is lignocellulosic waste that can be sustainably used as an energy source through anaerobic digestion (AD). The 16S ribosomal RNA technique helps to unravel microbial diversity and predominant metabolic pathways. The assays were performed in 600-mL-glass bottles with 400 mL volume, for 60 days at 37 °C. The study evaluated the physicochemical parameters, the composition of the microbiota, and the functional inference in AD of different concentrations of turkey litter (T) using two inocula: granular inoculum (S) and commercial inoculum (B). The highest accumulated methane production (633 mL CH4·L-1) was observed in the test containing 25.5 g VS·L-1 of turkey litter with the addition of the two inocula (T3BS). In tests without inoculum (T3) and with commercial inoculum (T3B), there was an accumulation of acids and consequent inhibition of methane production 239 mL CH4·L-1 and 389 mL CH4·L-1, respectively. Bacteroidota, Firmicutes, and Actinobacteria were the main phyla identified. The presence of archaea Methanobacterium, Methanocorpusculum, and Methanolinea highlighted the hydrogenotrophic metabolic pathway in T3BS. Functional prediction showed enzymes involved in three metabolic pathways in turkey litter biodigestion: acetotrophic, hydrogenotrophic, and methylotrophic methanogenesis. The predominant hydrogenotrophic pathway can be observed by analyzing the microbiota, archaea involved in this specific pathway, genes involved, and relative acid consumption for T3S and T3BS samples with higher methane production. Molecular tools help to understand the main groups of microorganisms and metabolic pathways involved in turkey litter AD, such as the use of different inocula, allowing the development of strategies for the sustainable disposal of turkey litter.
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Salmonella enterica continues to be a leading cause of foodborne morbidity worldwide. A quantitative risk assessment model was developed to evaluate the impact of pathogen enumeration and serotyping strategies on public health after consumption of undercooked contaminated ground turkey in the USA. The risk assessment model predicted more than 20,000 human illnesses annually that would result in ~700 annual reported cases. Removing ground turkey lots contaminated with Salmonella exceeding 10 MPN/g, 1 MPN/g, and 1 MPN/25 g would decrease the mean number of illnesses by 38.2, 73.1, and 95.0%, respectively. A three-class mixed sampling plan was tested to allow the detection of positive lots above threshold levels with 2-6 (c = 1) and 3-8 samples per lot (c = 2) using 25-g and 325-g sample sizes for a 95% probability of rejecting a contaminated lot. Removal of positive lots with the presence of highly virulent serotypes would decrease the number of illnesses by 44.2-87.0%. Based on these model prediction results, risk management strategies should incorporate pathogen enumeration and/or serotyping. This would have a direct impact on illness incidence linking public health outcomes with measurable food safety objectives, at the cost of diverting production lots.
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Salmonella enterica , Salmonella , Animais , Humanos , Sorotipagem , Perus , Gestão de Riscos , Avaliação de Resultados em Cuidados de SaúdeRESUMO
BACKGROUND: In this study, we investigated the prevalence of respiratory viruses in four Hybrid Converter Turkey (Meleagris gallopavo) farms in Egypt. The infected birds displayed severe respiratory signs, accompanied by high mortality rates, suggesting viral infections. Five representative samples from each farm were pooled and tested for H5 & H9 subtypes of avian influenza viruses (AIVs), Avian Orthoavulavirus-1 (AOAV-1), and turkey rhinotracheitis (TRT) using real-time RT-PCR and conventional RT-PCR. Representative tissue samples from positive cases were subjected to histopathology and immunohistochemistry (IHC). RESULTS: The PCR techniques confirmed the presence of AOAV-1 and H5 AIV genes, while none of the tested samples were positive for H9 or TRT. Microscopic examination of tissue samples revealed congestion and hemorrhage in the lungs, liver, and intestines with leukocytic infiltration. IHC revealed viral antigens in the lungs, liver, and intestines. Phylogenetic analysis revealed that H5 HA belonged to 2.3.4.4b H5 sublineage and AOAV-1 belonged to VII 1.1 genotype. CONCLUSIONS: The study highlights the need for proper monitoring of hybrid converter breeds for viral diseases, and the importance of vaccination programs to prevent unnecessary losses. To our knowledge, this is the first study that reports the isolation of AOAV-1 and H5Nx viruses from Hybrid Converter Turkeys in Egypt.
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Influenza Aviária , Filogenia , Doenças das Aves Domésticas , Animais , Doenças das Aves Domésticas/virologia , Doenças das Aves Domésticas/epidemiologia , Doenças das Aves Domésticas/patologia , Influenza Aviária/virologia , Influenza Aviária/patologia , Influenza Aviária/epidemiologia , Egito/epidemiologia , Perus/virologia , Vírus da Influenza A/isolamento & purificação , Vírus da Influenza A/genética , Vírus da Influenza A/classificaçãoRESUMO
Biobanking of turkey ovarian tissue has the potential to play a crucial part in preserving female genetics. To date, ovarian tissue has only been vitrified using a standard protocol, with immediate analyses after warming, therefore, long-term cryoinjury is unknown. Long-term cryoinjury was investigated here by in-ovo culturing, fresh (non-vitrified), a purposefully suboptimal poor vitrification (PV), and the standard vitrified (StV) protocol. Assessments were performed via cellular morphological changes and mRNA gene expression differences, immediately (day 0) or after 2, 4, or 6 days of in-ovo culturing. On day 0, the mRNA levels of heat-shock protein A2 (HSPA2) were lowest in the fresh tissue, and increased 5-fold in the StV treatment, and 18-fold in the PV treatment. Whereas, by day 6, growth determining factor 9 (GDF9) mRNA levels within the fresh tissue were over 3-fold and 21-fold higher than StV and PV treatments, respectively. After 6 days of in-ovo culture the follicle density was highest in the fresh ovarian tissue (4701 ± 950 #/mm3), followed by the StV (1601 ± 300 #/mm3), with PV having the lowest density (172 ± 145 #/mm3). This shows that although the density of follicles was higher in StV versus PV, a considerable number (â¼65 %) were lost compared to the fresh treatment. Additionally, the HSPA2 expression could be an early screening tool, whereas GDF9 expression could be a late screening tool, used to assess turkey ovarian tissue vitrification protocols. We conclude that the StV protocol should be further optimized to try and improve follicle numbers post-warming.
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Bancos de Espécimes Biológicos , Criopreservação , Feminino , Humanos , Criopreservação/métodos , Ovário , Vitrificação , Expressão Gênica , RNA Mensageiro/genéticaRESUMO
Lymphoproliferative disease virus (LPDV) was first documented in wild turkeys in North America in 2009. LPDV infection is often subclinical but can manifest as lymphoid proliferation or round cell neoplasia. Despite high prevalence across many sampled areas corresponding to declining populations of wild turkeys, knowledge regarding LPDV pathogenesis, risk factors for disease development, and associated impacts on population dynamics are unknown. To understand transmission, viral shedding, and tissue tropism, we inoculated 21 domestic turkeys via the oral cavity, crop, nasal cavity, subcutis, or coelomic cavity. For 12 weeks, oropharyngeal swabs, cloacal swabs, and whole blood were collected weekly. At 1 week postinoculation, 3 turkeys (3/21; 14%) had detectable LPDV proviral DNA in blood by polymerase chain reaction, and 10 developed DNAemia (50%; 10/20) by 12 weeks. LPDV proviral DNA was intermittently detected in oropharyngeal and cloacal swabs. Splenomegaly was the most consistent gross finding in DNAemic birds (8/11; 73%). Lymphoid hyperplasia in the spleen was the most significant microscopic finding (9/11; 82%). Three turkeys (3/11; 27%) developed round cell neoplasia characterized by sheets of pleomorphic, round to polygonal cells in the adrenal gland, bone marrow, skin, small intestine, and/or spleen. LPDV was detected in the spleen and bone marrow from all turkeys with DNAemia and all neoplasms. Our study establishes that infection and disease with North American LPDV from wild turkeys can be experimentally reproduced in domestic turkeys, laying the groundwork for future investigations into LPDV pathogenesis, development of diagnostic techniques, and understanding the impacts of LPDV on wild turkey populations.
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Doenças das Aves Domésticas , Perus , Animais , Perus/virologia , Doenças das Aves Domésticas/virologia , Doenças das Aves Domésticas/patologia , Doenças das Aves Domésticas/epidemiologia , Transtornos Linfoproliferativos/veterinária , Transtornos Linfoproliferativos/virologia , Transtornos Linfoproliferativos/patologia , DNA Viral/genética , Feminino , Infecções Tumorais por Vírus/veterinária , Infecções Tumorais por Vírus/virologia , Infecções Tumorais por Vírus/patologia , Infecções Tumorais por Vírus/epidemiologia , Eliminação de Partículas Virais , América do Norte/epidemiologia , Masculino , Infecções por Retroviridae/veterinária , Infecções por Retroviridae/virologia , Infecções por Retroviridae/patologia , Baço/patologia , Baço/virologiaRESUMO
AIM: Understanding vaccine hesitancy, as a critical concern for public health, cannot occur without the use of validated measures applicable and relevant to the samples they are assessing. The current study aimed to validate the Vaccine Hesitancy Scale (VHS) and to investigate the predictors of children's vaccine hesitancy among parents from Australia, China, Iran, and Turkey. To ensure the high quality of the present observational study the STROBE checklist was utilized. DESIGN: A cross-sectional study. METHOD: In total, 6,073 parent participants completed the web-based survey between 8 August 2021 and 1 October 2021. The content and construct validity of the Vaccine Hesitancy Scale was assessed. Cronbach's alpha and McDonald's omega were used to assess the scale's internal consistency, composite reliability (C.R.) and maximal reliability (MaxR) were used to assess the construct reliability. Multiple linear regression was used to predict parental vaccine hesitancy from gender, social media activity, and perceived financial well-being. RESULTS: The results found that the VHS had a two-factor structure (i.e., lack of confidence and risk) and a total of 9 items. The measure showed metric invariance across four very different countries/cultures, showed evidence of good reliability, and showed evidence of validity. As expected, analyses indicated that parental vaccine hesitancy was higher in people who identify as female, more affluent, and more active on social media. CONCLUSIONS: The present research marks one of the first studies to evaluate vaccine hesitancy in multiple countries that demonstrated VHS validity and reliability. Findings from this study have implications for future research examining vaccine hesitancy and vaccine-preventable diseases and community health nurses.
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Pais , Psicometria , Hesitação Vacinal , Humanos , Masculino , Pais/psicologia , Feminino , Estudos Transversais , Hesitação Vacinal/psicologia , Hesitação Vacinal/estatística & dados numéricos , Adulto , Reprodutibilidade dos Testes , Criança , Inquéritos e Questionários , Austrália , Pessoa de Meia-Idade , Vacinação/psicologia , Vacinação/estatística & dados numéricos , Turquia , Adolescente , China , Irã (Geográfico)RESUMO
BACKGROUND: Identifying healthcare services and also strengthening the healthcare systems to effectively deliver them in the aftermath of large-scale disasters like the 2023 Turkey-Syria earthquakes, especially for vulnerable groups cannot be emphasized enough. This study aimed at identifying the interventions undertaken or proposed for addressing the health needs or challenges of vulnerable groups immediately after the occurrence of the 2023 Turkey-Syria earthquakes, as well as for prioritizing their healthcare service delivery in the post-Turkey-Syria earthquake. METHODS: In this scoping review compiled with the five steps of the Arksey and O'Malley framework, five databases, including PubMed, Science Direct, Web of Science, OVID, and Google Scholar, were searched for studies published between March and April 2023 in line with the eligibility criteria. Interventions for enhancing post-earthquake healthcare services (PEHS) were grouped into seven (7) categories, adopted from previous guidelines and studies. Each one was assigned a default score of a value equal to one (1), which, in the end, was summed up. RESULTS: Of the 115 total records initially screened, 29 articles were eligible for review. Different interventions they reported either undertaken or proposed to address the healthcare needs and challenges, especially faced by the most vulnerable groups in the aftermath of the Turkey-Syria earthquakes, were categorized into 7 PEHS. They were ranked with their scores as follows: humanitarian health relief (25); medical care (17); mental health and psychosocial support (10); health promotion, education, and awareness (9); disease surveillance and prevention (7); disability rehabilitation (7); and sexual and reproductive health (5). CONCLUSION: Since there are no proper guidelines or recommendations about the specific or most significant PEHS to prioritize for vulnerable groups after the occurrence of large-scale earthquakes, this scoping review provides some insights that can help inform healthcare service delivery and prioritization for vulnerable groups in the post-2023 Turkey-Syria earthquakes and other similar disasters.
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Desastres , Terremotos , Humanos , Turquia , Síria , Atenção à SaúdeRESUMO
OBJECTIVE: This study aimed to investigate the impact of analyzing somatic alterations using next-generation sequencing (NGS) on treatment management in patients with metastatic solid cancers and their ability to access NGS recommended treatments. METHODS: This retrospective study included eligible patients who underwent NGS on somatic tumor tissue. We examined the clinical and pathological characteristics of these patients and the alterations in their treatment following NGS results. RESULTS: A total of 101 patients who underwent NGS were included in the study. The most common cancers were non-small cell lung cancer (NSCLC), colorectal, and breast cancers, in that order. The median age was 58 (range 21-82) years, with 60 (59.4%) male participants. The median NGS turnaround time was 23 (range 17-29) days. NGS was performed on tissue from the primary lesion in 89(88%) patients. Predictive, prognostic, actionable, or variants of unknown significance were detected in 62(61.4%) patients. The most frequent variants identified were KRAS, EGFR, TP53, PIK3CA, and other rare mutations. Treatment was altered in 17(16.8%) patients based on NGS results. Of the 30 (29.7%) patients for whom NGS-informed treatment was recommended, only seven (6.9%) received the recommended therapy. There was no significant difference in overall survival (OS) between patients whose treatment was changed based on NGS results and those whose treatment remained unchanged (p = 0.897). There was no difference in OS between patients with and without variants (p = 0.384). CONCLUSIONS: NGS analysis of somatic alterations in patients with metastatic cancer may reveal additional variants beyond those identified by baseline tests. However, based on the recommendations of the reimbursement institution in Turkey, only a limited number of patients are able to access treatments recommended by NGS results. Therefore, baseline tests established in Turkey need to be made available in more centers in an appropriate time.
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BACKGROUND: Preservatives are a frequent cause of allergic contact dermatitis (ACD) and have caused numerous epidemics. OBJECTIVES: The objective of this study is to determine the prevalence of preservative sensitivity, assess the change in the frequency of sensitivity, identify new preservatives with increased sensitivity rates, and evaluate the situation in Turkey by comparing our findings with current literature. METHODS: A total of 201 patients diagnosed with ACD between 2018 and 2020, were patch tested with the European baseline series and additional seven preservative haptens. The change in the prevalence of sensitivity to each preservative hapten was investigated by comparing the data from the study conducted in our department between 2000 and 2004. RESULTS: Results showed that 17.4% (n = 35) of the patients were positive to preservatives. Comparison with previous data from 2000 to 2004 revealed an increase in the frequency of sensitization. The most prevalent allergen was methyldibromo glutaronitrile (9.5%), followed by methylchloroisothiazolinone/methylisothiazolinone (6.5%), and methylisothiazolinone (5%). CONCLUSION: The increase in preservative sensitivity in Turkey is the most remarkable finding. Although MDBGN was prohibited in cosmetic products, MCI/MI and MI are still widely used. Our findings suggest that awareness of preservative sensitivity should be increased and additional precautions should be taken, also in Turkey, regarding the use of preservatives.
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Dermatite Alérgica de Contato , Conservantes Farmacêuticos , Humanos , Alérgenos/efeitos adversos , Cosméticos , Dermatite Alérgica de Contato/epidemiologia , Dermatite Alérgica de Contato/etiologia , Dermatite Alérgica de Contato/diagnóstico , Haptenos , Nitrilas , Testes do Emplastro/métodos , Conservantes Farmacêuticos/efeitos adversos , Tiazóis , Turquia/epidemiologiaRESUMO
OBJECTIVE: This study is designed to explore associated sociodemographic, birth-related and household characteristics with preterm birth (< 37 weeks) among Turkish and Syrian refugee women. METHODS: The data utilized in this study were obtained from the Turkey Demographic and Health Survey (TDHS) conducted in 2018. Various statistical analyses, including descriptive statistics, independent sample t-tests, and Chi-square tests, were employed to examine the differences in study variables between Turkish and Syrian refugee women. Furthermore, logistic regression analysis was conducted to identify the associated factors with preterm birth among Turkish and Syrian refugee women, allowing for comparative analysis. RESULTS: The key findings of this study revealed significant differences in sociodemographic (p < 0.05), birth-related (p < 0.05), and household characteristics (p < 0.05) that are associated with preterm birth among Turkish and Syrian refugee women. Also, nationality (OR: 3.427; 95% CI 2.770-4.241), delivery by c-section (OR: 1.630; 95% CI 1.370-1.939), educational status (OR: 0.674; 95% CI 0.547-0.832), place of delivery (OR: 0.806; 95% CI 0.666-0.975), and number of household members (OR: 1.206; 95% CI 1.013-1.437) were found to be important factors associated with preterm birth risk. CONCLUSIONS: The key findings of this study contribute to the identification of women's factors in preterm birth. By understanding the factors that contribute to preterm birth among both Syrian refugee and Turkish women, appropriate interventions can be developed to improve maternal and child health outcomes.
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Nascimento Prematuro , Refugiados , Gravidez , Criança , Recém-Nascido , Feminino , Humanos , Nascimento Prematuro/epidemiologia , Resultado da Gravidez , Turquia/epidemiologia , Síria , Estudos RetrospectivosRESUMO
Vaginal douching, a practice that has existed for many years, is defined as the process of intravaginal cleansing using a liquid solution. Despite its negative consequences with respect to health, vaginal douching is widely practised in many countries. This study sought to examine the vaginal douching experiences of women in the southeastern region of Türkiye. We used a phenomenological approach with semi-structured, in-depth interviews conducted between January and June 2022. Participants were 20 women who either currently practised vaginal douching or had stopped practising it at some point in their lives. The women were admitted to the obstetrics and gynaecology outpatient clinic of a district state hospital in Eastern Turkey for care and treatment. The data collected from the respondents were categorised into five thematic areas: sources of information about douching; reasons for doing so; as well as frequency, methods, and feelings about douching. The findings provide a rich source of information about each of these areas. These findings may help inform future studies on the prevention of vaginal douching in women.
RESUMO
Turkey currently pursues an aggressive pronatalist population politics which has created wide-reaching reproductive governance regulating reproductive health care and family planning choices. One aspect of this orientation centres on restricting access to abortion services despite the fact that abortion is legal through ten weeks of pregnancy. This article uses nationwide data collected from mystery patient surveys administered to all public (in 2016 and 2020), and all private (2021) hospitals in the country to determine the availability of abortion services in Turkey. Less than half of all hospitals responding provided abortions to the full extent provided by law. Abortion without restriction as to reason was largely unavailable at public hospitals and the cost of care at private hospitals remained prohibitive for many. Among those hospitals we reached, in four provinces, there was no public or private hospital providing any type of abortion care. The most frequent explanation for the lack of abortion services was that abortion is illegal. This was particularly the case for public hospitals. Despite a 10-week cutoff for abortions, 39% of private hospitals responding to the survey invoked even earlier time limits creating further restrictions. The extreme pronatal orientation of the reproductive governance currently in place has created a state of reproductive injustice that makes enhanced access to abortion of vital importance.
RESUMO
Abortion was legalised in Turkey in 1983 with a 10-week limit, restrictions on who could provide abortions, and spousal or parental consent requirements. Currently, although abortion is legal, because of structural barriers, access is restricted (O'Neil, Altuntas, and Keskin 2020). This study aimed to investigate how women strategically mobilise their social networks to overcome such restrictions to abortion care. Drawing from 25 in-depth interviews with urban-educated cis-women aged 24-30, I identify three groups within abortion networks: included, excluded and ambiguous. While included groups comprised largely of female family and friends, excluded groups were male family members and organisations, and the ambiguous category included health professionals and partners. Supporting findings in other contexts, individuals initially utilise their abortion networks to access the provider, they then build abortion solidarity networks to act as buffers against groups they wish to exclude during the abortion experience. Additionally, I show that excluded and ambiguous networks also impact abortion access, decision-making, and experience, even pushing individuals to follow through with illegal or semi-legal abortion procedures. Findings draw attention to the structural boundaries surrounding abortion laws, how patriarchal institutions make access to abortion care and abortion networks challenging, and how social networks may be utilised to alleviate such obstacles.
Assuntos
Aborto Legal , Acessibilidade aos Serviços de Saúde , Humanos , Feminino , Turquia , Adulto , Gravidez , Aborto Legal/legislação & jurisprudência , Entrevistas como Assunto , Aborto Induzido/legislação & jurisprudência , Adulto Jovem , Pesquisa Qualitativa , Rede SocialRESUMO
This study provides evidence of fine-grained genetic structuring in Mediterranean mussels (Mytilus galloprovincialis) from the Strait of Istanbul, caused by barriers to gene flow via contaminant-mediated selection. In this study, mitochondrial D-loop sequences were analyzed in mussels from 8 localities, all less than 30 kilometers apart, with differing contaminant loads. The results were: 1) Intra-population genetic differentiation (ΦST) between sites with high and low contaminant loads was high (up to 0.459), even at distances of only a few kilometers. 2) Genetic diversity was negatively correlated with the contaminant load ("genetic erosion"). 3) There was evidence of selection, based on haplotype frequencies and neutrality tests (Tajima's D), with purifying selection at the most contaminated site and balancing selection at the least contaminated. 4) Genetic distance was not correlated with geographic distance (no isolation-by-distance), but was correlated with contaminant load at each site. 5) Population dendrograms and Bayesian estimators of migration indicated that gene flow between sites was affected by contamination. For the dendrograms of the sampling sites, the clades clustered according to contaminant load more than geographic distance. Overall, these results suggest that 1) contamination may serve as a genotype-dependent dispersal barrier (i.e., contamination may not affect total number of migrants, just the relative proportions of the haplotypes in the established immigrants), leading strong population differentiation over short distances, and 2) genetic erosion may occur by a combination of selection and altered patterns of haplotype-specific gene flow. These effects may be more pronounced in the Strait of Istanbul than in other locations because of the riverine nature and strong, uni-directional current of the strait.