Publications by authors named "Tuna S"

Introduction: Acupressure and cold application are nonpharmacologic methods that midwives can use for labor pain. The purpose of this study was to determine the effects of ice massage applied to the SP6 acupressure point during labor on labor pain, labor comfort, labor duration, and anxiety.

Methods: A single-masked, randomized controlled trial was conducted with 100 nulliparous women, including 50 in the intervention group and 50 in the control group.

View Article and Find Full Text PDF
Article Synopsis
  • A study explored the effectiveness of using short-read and long-read genome sequencing to identify genetic causes of neurodevelopmental disorders (NDDs) in individuals who previously did not receive a genetic diagnosis.
  • The research involved 692 individuals, finding causal variants in 36% of affected individuals and uncertain variants in another 23%.
  • Long-read sequencing proved beneficial for resolving complex structural variants and improving the overall understanding of genetic contributions to NDDs.
View Article and Find Full Text PDF

In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presence of a particular single variant, predominates. In the case of complex diseases, disease status can be evaluated by considering the success level of a team of specific variants.

View Article and Find Full Text PDF

Objective: Studies aiming at illuminating the complex relationships between cancer, obesity, 25-hydroxy vitamin D (25-OHD) deficiency, and body fat percentage are ongoing. The objective of this study was to investigate the relationships between 25-OHD deficiency, visceral fat tissue, and the Beck Depression Inventory (BDI) in cancer patients.

Methods: This study was conducted from 2013 to 2022.

View Article and Find Full Text PDF

Purpose: To evaluate the retention force of a novel conometric system after thermomechanical aging. In addition, the conometric system's retention force was compared with that of the cemented implant-retained crowns.

Materials And Methods: Two systems to retain implant crowns were tested in this study: a conometric system and a cement-retained system.

View Article and Find Full Text PDF

Objective: In this study, we reviewed the data of patients who presented to the Emergency Department with abdominal pain, underwent ultrasonography (USG) and computed tomography (CT), and were pathologically diagnosed with acute appendicitis and non-appendicitis. We aimed to emphasize the ethical importance of specifying a clinical diagnosis with its effect on radiologically correct diagnosis and patient management method.

Patients And Methods: A total of 1047 patients, 971 patients with acute appendicitis due to pathology, and 76 patients with non-acute appendicitis, who applied to the Emergency Department with acute abdominal pain, underwent ultrasound and/or CT of the whole abdomen were evaluated.

View Article and Find Full Text PDF

Purpose: The objectives of this in vitro study were to evaluate changes in the retention force of the indexed conometric system subjected to repeated insertion-removal cycles and to examine the elements (matrix and patrix) that cause retention changes in the system as a result of repeated cycles.

Materials And Methods: Monolithic zirconia crowns were cemented on 24 matrixes and 24 patrixes fixed on the implant analog. The pull-out test was performed with 12 matrixes and 12 patrixes attached, and the initial retention forces were recorded.

View Article and Find Full Text PDF

Purpose: Mandibular flexure is a crucial phenomenon that may affect the success of rigid bilateral mandibular prosthetic treatment. The aim of this study was to determine the amount of median mandibular flexure (MMF) that occurs during mouth opening from anterior to posterior mandible in seven different regions, in different age and gender groups of both dentulous and edentulous subjects, using an intraoral digital scanner.

Materials And Methods: In this study, the mandibular arch of 56 dentulous and 35 edentulous individuals were scanned with an intraoral scanner at both the minimum mouth opening (MnMO) and the maximum mouth opening (MxMO).

View Article and Find Full Text PDF

Activity concentrations of 42 different feldspathic dental ceramic powders were determined using a gamma spectrometer with an HPGe detector. The average U, Th and Ra activity concentrations of the specimens were 126 ± 8 Bq kg, 5.6 ± 0.

View Article and Find Full Text PDF

Background: Physical therapy and exercise programs are frequently used in the treatment of knee osteoarthritis (OA). However, it is not known at what stage of knee OA it is more effective.

Objective: The purpose of this work was to determine the relationship between the effectiveness of the physical therapy and exercise programs and the radiological findings presence/grade of knee OA.

View Article and Find Full Text PDF

Purpose: The aim of the study was to translate and adapt the Self-Regulatory Fatigue Scale (SRF-18) into Turkish and also demonstrate its reliability and validity in young adults.

Design And Methods: A total of 181 participants completed SRF-18, Life Orientation Test-Revised (LOT-R), Brief Self-Control Scale (BSCS), and Multidimensional Fatigue Inventory (MFI). One week later 30 participants refilled SRF-18.

View Article and Find Full Text PDF

Background: To the best of our knowledge, no other studies investigated acute myocardial infarction patients' beliefs and knowledge level after the discharge education.

Aims: The aim of the study was to investigate the effectiveness of planned discharge education on the beliefs and knowledge levels of CVD risk factors, medication compliance, dietary compliance, and individual follow-up in patients with acute myocardial infarction (AMI).

Methods: A double-blind randomized controlled study was carried out with 100 AMI patients.

View Article and Find Full Text PDF

Each year, blood transfusions save millions of lives. However, under current blood-matching practices, sensitization to non-self-antigens is an unavoidable adverse side effect of transfusion. We describe a universal donor typing platform that could be adopted by blood services worldwide to facilitate a universal extended blood-matching policy and reduce sensitization rates.

View Article and Find Full Text PDF

Purpose: The aim of this study was to evaluate the corrosion resistance of the specimens produced by five different commercial metal laser sintering (MLS) systems with their recommended Co-Cr alloy powders.

Materials And Methods: The MLS machines and the alloy powders used were, ProX 100-ST2724G (St-Pro), Mysint 100-EOS SP2 (SP2-Mys), EOSINT 270-EOS SP2 (SP2-EOS), SLM 100-Starbond CoS (SB-SLM), and MLab Cusing-Remanium® Star (RS-MLab), respectively. Eight specimens from each group were prepared.

View Article and Find Full Text PDF
Article Synopsis
  • Many patients with rare diseases lack proper molecular diagnoses, and over half of these disorders still have unknown genetic causes.
  • A study involving whole-genome sequencing (WGS) in a national health system analyzed data from over 13,000 participants, successfully providing genetic diagnoses for a subset of those with rare diseases.
  • The research identified 95 gene-disease associations, including 11 newly discovered since 2015, and highlighted four novel non-coding variants that disrupt important gene functions, showcasing the potential of WGS in enhancing genetic diagnosis and disease understanding.
View Article and Find Full Text PDF

Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a 'heteroplasmic haplotype' consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5-25%, implying biparental inheritance of mtDNA in 0.06% of offspring.

View Article and Find Full Text PDF

Background: Primary membranoproliferative GN, including complement 3 (C3) glomerulopathy, is a rare, untreatable kidney disease characterized by glomerular complement deposition. Complement gene mutations can cause familial C3 glomerulopathy, and studies have reported rare variants in complement genes in nonfamilial primary membranoproliferative GN.

Methods: We analyzed whole-genome sequence data from 165 primary membranoproliferative GN cases and 10,250 individuals without the condition (controls) as part of the National Institutes of Health Research BioResource-Rare Diseases Study.

View Article and Find Full Text PDF

IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by We describe two patients with homozygous mutations in who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in , and genes encoding different components of the IL-6 signaling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R.

View Article and Find Full Text PDF

Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.

View Article and Find Full Text PDF

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic sensitivity and reproducibility, and variant interpretation by a multidisciplinary team (MDT) in the context of the clinical phenotype. We have sequenced 2396 index patients using the ThromboGenomics HTS panel test of diagnostic-grade genes known to harbor variants associated with rare bleeding, thrombotic, or platelet disorders (BTPDs). The molecular diagnostic rate was determined by the clinical phenotype, with an overall rate of 49.

View Article and Find Full Text PDF

Basilar invagination, Platibasi, increased tentorium angle, and posterior fossa hypoplasia are the anomalies associated with Chiari malformation. When Chiari is symptomatic; tonsillary ectopenia appears to be a definitive criterion for diagnosis and treatment, the detection of additional anomaly may alter the surgical outcome. The aim of this study is to investigate the relationship between tonsillar ectopia and other anomalies.

View Article and Find Full Text PDF

Objective: Hepatitis B virus (HBV) and hepatitis C virus (HCV) are associated with significant morbidity and mortality among cancer patients who received cytotoxic chemotherapy. The aim of current study was to elucidate the prevalence of HBV and HCV among large population of solid cancers and lymphoma and to compare them with large number of control group.

Patients And Methods: Between 2000 and 2014, 8322 cancer patients who were admitted to Oncology Departments were evaluated retrospectively and 3890 patients in whom hepatitis serology were available were included in this study.

View Article and Find Full Text PDF

Background: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information.

Objective: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort.

Methods: In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants.

View Article and Find Full Text PDF

Objective: The aim of this study was to evaluate, quantitatively, the volumetric effects of stabilization splint therapy on the masseter muscle of sleep bruxism (SB) patients.

Methods: The magnetic resonance (MR) images of 16 SB patients diagnosed by polysomnography (PSG) who used stabilization splints for four months were obtained before and after the therapy. The masseter muscle volume was calculated using Cavalieri's principle on the MR images.

View Article and Find Full Text PDF