176 research outputs found
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)
No full textHülya Kayserili, Timothy C Cox, Liza L Cox, Seher Basaran, Gülleyla Kiliç, Andrea Ballabio, Memnune Yüksel-Apa
A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
No full textThe short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome
Supplemental Material - Rhupus syndrome in children: A multi-center retrospective cohort study and literature review
No full textSupplemental Material for Rhupus syndrome in children: A multi-center retrospective cohort study and literature review by Seher Sener, Ezgi Deniz Batu, Sezgin Sahin, Deniz Gezgin Yildirim, Miray Kisla Ekinci, Hakan Kisaoglu, Yasin Karali, Selcan Demir, Ummusen Kaya Akca, Aybuke Gunalp, Seyma Turkmen, Gulsah Kavrul Kayaalp, Ceyda Arslanoglu, Ruya Torun, Ozge Basaran, Aysenur Pac Kisaarslan, Betul Sozeri, Nuray Aktay Ayaz, Sevcan Azime Bakkaloglu, Sara Sebnem Kilic, Mukaddes Kalyoncu, Yelda Bilginer, Erbil Unsal, Ozgur Kasapcopur, and Seza Ozen in Lupus</p
Introduction to unified mechanics theory with applications
No full textThis text describes the mathematical formulation and proof of the unified mechanics theory (UMT) which is based on the unification of Newton’s laws and the laws of thermodynamics. It also presents formulations and experimental verifications of the theory for thermal, mechanical, electrical, corrosion, chemical and fatigue loads, and it discusses why the original universal laws of motion proposed by Isaac Newton in 1687 are incomplete. The author provides concrete examples, such as how Newton’s second law, F = ma, gives the initial acceleration of a soccer ball kicked by a player, but does not tell us how and when the ball would come to a stop. Over the course of Introduction to Unified Mechanics Theory, Dr. Basaran illustrates that Newtonian mechanics does not account for the thermodynamic changes happening in a system over its usable lifetime. And in this context, this book explains how to design a system to perform its intended functions safely over its usable life time and predicts the expected lifetime of the system without using empirical models, a process currently done using Newtonian mechanics and empirical degradation/failure/fatigue models which are curve-fit to test data. Written as a textbook suitable for upper-level undergraduate mechanics courses, as well as first year graduate level courses, this book is the result of over 25 years of scientific activity with the contribution of dozens of scientists from around the world including USA, Russia, Ukraine, Belarus, Spain, China, India and U.K. Presents engineering mechanics through explanation of the unified mechanics theory with extensive experimental validation and finite element implementation using real world examples Draws the connections to the thermodynamics of degradation in solids from mathematical and microstructural perspective Discusses shortcomings and incompleteness of Newton’s universal laws of motion Posits why the space-time coordinate system is insufficient to describe organic and inorganic systems and modifies Newtonian space-time with introduction of an additional axis (Thermodynamic State Index axis)
The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses
No full textObjectives: To determine the incidence of chromosome abnormalities among couples for whom intracytoplasmic sperm injection (ICSI) treatment was indicated and fetuses conceived through the ICSI procedure. Methods: All cytogenetic results were evaluated retrospectively. Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) males with severe infertility ( 87 azoospermia and 34 oligoasthenoteratozoospermia, OAT), (2) prior to ICSI (56 males and 61 females), and (3) following an unsuccessful ICSI procedure ( 132 males and 138 females). Fetuses conceived through ICSI (n = 475) were also classified into 4 groups according to the additional risk factors for chromosome abnormalities: ICSI (n = 185), ICSI + advanced maternal age (AMA, n = 215), ICSI + positive triple test result (TT, n = 50), and ICSI + abnormal ultrasound findings (USG, n = 25). Results: An abnormal karyotype was found in 31.03% of males with azoospermia and 14.71% of males with OAT, in 3.57% of males and 1.64% of females in the group prior to ICSI, and in 5.30 and 5.07%, respectively, in the group following unsuccessful ICSI treatment. Gonosomal aneuploidies were predominant in males with azoospermia and autosomal rearrangements in males with OAT, while low-level sex chromosome mosaicism was found in females. The overall frequency of chromosome abnormalities in fetuses was 4.42% and varied in the different groups from 1.62% in ICSI, 2.79% in ICSI + AMA, 10.0% in ICSI + TT to 28.0% in ICSI + USG. The frequencies of the different types of chromosome abnormalities were as follows: balanced 1.05%, unbalanced 3.37%, familial 0.84%, de novo 3.37%, autosomal 3.58%, gonosomal 0.84%, numerical 1.89%, structural abnormalities 2.53%, and mosaicism 1.26%. Conclusion: Our results indicate that cytogenetic investigations of the ICSI parents and fetuses are essential for the families, genetic counselors and also reproductive centers. In fetal karyotyping, de novo structural chromosome abnormalities and mosaicism should be taken into consideration. Copyright (C) 2004 S. Karger AG, Basel
Unfinished nursing care occurrence, priority order and reasons as perceived by nursing students: An international study
No full textAim The study aimed to measure and compare differences (a) in the unfinished nursing care interventions overall and the order in which they are left unfinished; and (b) in the underline reasons, as perceived by Italian, Slovak and Turkish nursing students. Background In recent years, in the nursing education context a novel line of research in the field of unfinished nursing care as those interventions required by patients, but omitted or delayed, has emerged. However, no studies have been conducted at the international level. Design An international, comparative cross-sectional study was performed in 2022-2023 and reported here according to Strengthening the Reporting of Observational Studies in Epidemiology guidelines. Methods A multinational research network was formed with a convenient sample of 13 universities and 60 campuses (4595 students). The Unfinished Nursing Care Survey for Students (UNCS4S) was administered. A total of 1850 students participated. Results According to the UNCS4S total score, Italians reported an average 50.9 out of 110 unfinished nursing care interventions (CI95 % 47.6-54.1), Slovakians 54.9 (CI95 % 53.7-56.1) and Turkish students 50.4 (CI95 % 49.2-51.5) (p<0.001). Some interventions were reported more often as unfinished across countries as supervising the task assigned to the nursing aides, going to the patient without being called, spending the required time with the patient and their caregivers and emotionally supporting patients and their caregivers. In terms of reasons, total scores were statistically different across countries (Italy: 45.92 out of 90, CI95 % 43.91-47.9; Slovakia: 62, CI95 % 61.02-62.98; T & uuml;rkiye: 72.29, CI95 % 71.13-73.45; p<0.001); however, at the factor level, communication issues, lack of material resources and issues in supervision of nursing aides were reported in all countries as the most important reasons of the unfinished nursing care. Conclusions Students learn to shape and set priorities early in their nursing careers with similar order in what to leave unfinished as first, despite the different educational structures, care cultures and healthcare systems. Among the unfinished nursing care reasons perceived, the most influential were similar across countries, suggesting common areas for improvement. How to better prepare students to be resilient and capable of managing the challenges posed by unfinished nursing care episodes due to the lack of resources and communications issues should be considered as a priority by nurse educators
Hemşirelik Öğrencileri Finansal Okuryazarlıkta Sağlık Alanında Lisans Eğitimi Alan Öğrencilere Göre Nerede?
No full textAmaç: Bu çalışma, hemşirelik lisans eğitimi alan öğrencilerin diğer sağlık bölümü (ebelik, ergoterapi ve fizyoterapi) öğrencilerine göre finansal okuryazarlık düzeylerinin incelenmesi ve öğrencilerin finansal okuryazarlık düzeylerini etkileyen etmenlerin araştırılması amacıyla tanımlayıcı-ilişkisel tasarımda yapılmıştır. Yöntem: Araştırmanın örneklemini, Türkiye'de sağlık alanında lisans eğitimi alan toplam 369 öğrenci oluşturmaktadır. Öğrencilerin %59,6’sı hemşirelik, %19,5’i ebelik, %11,9’u ergoterapi ve %9,0’ı fizyoterapi bölümlerinde öğrenim görmektedir. Veriler Google Form aracılığıyla toplanmıştır. Veri toplama araçları, ‘Öğrenci Bilgi Formu ve Finansal Okuryazarlık Davranış ve Tutum Ölçeği’ oluşmaktadır. Verilerin analizinde; ikiden fazla bağımsız grup arasında fark olup olmadığını incelemek için tek yönlü varyans analizi (ANOVA), grup puanlarını karşılaştırmak için t testi, değişkenler arasındaki ilişkiyi incelemek için korelasyon analizi ve örneklem gücünü hesaplamak için G-Power programı kullanılmıştır. Bulgular: Bütün öğrencilerin Finansal Okuryazarlık Davranış ve Tutum Ölçeği puanı 3,39 (SS=0,50) iken hemşirelik öğrencilerinin puan ortalaması ise 3,51 (SS=0,49) bulunmuştur. Öğrencilerin finansal okuryazarlık puanı ile sınıf, cinsiyet, istihdam ve bölüm değişkenleri arasında istatistiksel olarak anlamlı ilişkiler bulunmuştur (p<.05). Hemşirelik ve ergoterapi öğrencilerinin finansal okuryazarlıkları ebelik bölümünden istatistiksel olarak anlamlı derecede yüksek saptanmıştır (p<.05). Öğrencilerin %4,9'u finansal okuryazarlık dersi aldığını ve %71,8'i sağlık ekonomisi dersi almak istediğini belirtmiştir. Sonuç: Hemşirelik öğrencilerinin finansal okuryazarlık düzeyleri diğer bölümlere göre daha yüksek bulunmuş olup ortalamanın üstündedir. Genel olarak sağlık bölümündeki öğrencilerin finansal okuryazarlık düzeylerinin ise ortalamanın biraz üstünde olduğu belirlenmiştir. Hemşirelik ve diğer sağlık bölümü lisans öğrencilerinin finansal okuryazarlıklarının gelişimi için öğrencilerin eğitiminde bu alanlardaki yeterlik gelişimine odaklanılabilir.Aim: This study was conducted with a descriptive-correlational design in order to examine the financial literacy levels of nursing undergraduate students compared to other healthcare students (midwifery, occupational therapy and physiotherapy) and to investigate the factors affecting the financial literacy levels of the students. Method: The sample of the study consisted of 369 students receiving undergraduate education in the field of health in Türkiye. 59.6% of the students are nursing, 19.5% midwifery, 11.9% occupational therapy and 9.0% physiotherapy students. Data were collected via Google Form. Data were collected using Student Information Form and Financial Literacy Behavior and Attitude Scale. One-way Analysis of Variance (ANOVA) was used to analyze whether there was a difference between more than two independent groups, t test was used to compare group scores, correlation analysis was used to examine the relationship between variables, and G-Power program was used to calculate the sampling power. Results: While the Financial Literacy Behavior and Attitude Scale score of all students was 3.39 (SD=0.50), the mean score of nursing students was 3.51 (SD=0.49). A statistically significant relationship was found between the financial literacy score of the students and the variables of class, gender, employment and department (p<.05). The financial literacy score of the nursing department was statistically significantly higher than the midwifery department, and the financial literacy score of the occupational therapy department was statistically significantly higher than the midwifery department (p<.05). 4.9% of the students had taken a course on financial literacy, and 71.8% stated that they wanted to take a health economics course. Conclusion: The financial literacy levels of nursing students were found to be higher than those in other departments and were at a over moderate level. In general, the financial literacy levels of students in the health department were found to be a little more than medium. In order to improve the financial literacy of nursing and other health department undergraduate students, the education of students can focus on the development of competence in these areas
Turkish nurses' assessments of their power and the factors that affect it
No full textAim To explore nurses' self-assessments of power and their opinions regarding factors affecting power in Turkey using a cross-sectional, descriptive study
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3
No full textAutosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non-specific mental retardation (NSMR). Although many X-linked genes have been identified as a cause of NSMR, only three autosomal genes are known to cause ARNSMR. We present here a large consanguineous Turkish family with four mentally retarded individuals from different branches of the family. Clinical tests showed cognitive impairment but no neurological, skeletal, and biochemical involvements. Genome-wide mapping using Human Mapping 10K Array showed a single positive locus with a parametric LOD score of 4.92 in a region on chromosome 1p21.1-p13.3. Further analyses using polymorphic microsatellite markers defined a 6.6-Mb critical region containing approximately 130 known genes. This locus is the fourth one linked to ARNSMR
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