Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.

Effect of radiation dose rates and cisplatin on cytogenetic damage in rats receiving head-neck radiotherapy.

Background: We aimed to investigate effect of radiotherapy (RT) applications with different dose rates on cytogenetic damages, which focused on micronucleus (MN) formation, and evaluate how this damage varies by cisplatin in rats receiving head-neck RT.

Material And Methods: Thirty-six Sprague Dawley rats were divided into five groups. The first and second groups were irradiated at a dose rate of 300 monitor unit/minute (MU/min) and 600 MU/min, respectively.

The increased chromosomal DNA damage in patients with Familial Mediterranean Fever.

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease. In this study, we aimed to assess chromosomal DNA damage and cell proliferation by using cytokinesis-block micronucleus cytome (CBMN-cyt) assay in the peripheral blood lymphocytes of untreated FMF patients carrying and mutations, which are the most common gene mutations in Turkish society. The study included 20 untreated FMF patients with and mutations and 20 healthy individuals of similar age and sex as the control group.

An integrated ergonomic risk assessment framework based on fuzzy logic and IVSF-AHP for optimising ergonomic risks in a mixed-model assembly line.

This study proposes a systematic approach to address ergonomic factors, including physical, environmental and psychosocial aspects, in solving assembly line balancing problems. A three-stage framework is developed, starting with determining weights for ergonomic risk assessment methods using the interval-valued spherical fuzzy analytical hierarchy process. In the second stage, a fuzzy logic model for integrated ergonomic risk assessment is constructed based on these weights, and the integrated ergonomic risk score is determined.

Effect of environmental education on the knowledge and attitude of some West African students in Northern Cyprus towards environmental health.

This study examines the relationship between environmental health and education by assessing how environmental education programs influence the attitude and knowledge of International university students in Northern Cyprus towards environmental health. The study employed a qualitative research method and utilized 45 international students from West Africa to grasp their perceptions of environmental challenges on campus, attitude-relevant elements, and their relationship to an academic program. The findings of the study show that most students were aware of the concept of environmental science and highlight that while the curriculum has a significant influence on students' ecological consciousness, teaching methods have an impact on students' attitudes toward the environment.

Enhancing resolution and contrast in fibre bundle-based fluorescence microscopy using generative adversarial network.

Fibre bundle (FB)-based endoscopes are indispensable in biology and medical science due to their minimally invasive nature. However, resolution and contrast for fluorescence imaging are limited due to characteristic features of the FBs, such as low numerical aperture (NA) and individual fibre core sizes. In this study, we improved the resolution and contrast of sample fluorescence images acquired using in-house fabricated high-NA FBs by utilising generative adversarial networks (GANs).

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

Background And Aim: Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.

Method: The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.

Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients.

Familial Mediterranean fever (FMF) is an autoinflammatory disease that is associated with endothelial dysfunction and atherosclerosis. Osteopontin which is a multifunctional protein involved in the modulation of inflammatory processes may contribute to the development of atherosclerosis in FMF patients. Therefore, this cross-sectional study investigated the relationship of osteopontin with carotid intima media thickness (CIMT) and atherogenic indices in patients with FMF.

Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?

Introduction: The genetic risk factors for Coronavirus disease-2019 (COVID19)-associated pulmonary fibrosis (CAPF) are not clearly defined. Mutations in the genes encoding telomerase reverse transcriptase (TERT) and mucin 5B (MUC5B) are well-known genetic risk factors for pulmonary fibrosis. In this study, we aimed to show whether the most common proven mutations of pulmonary fibrosis affect the development of CAPF.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia.

An LED-Based structured illumination microscope using a digital micromirror device and GPU accelerated image reconstruction.

When combined with computational approaches, fluorescence imaging becomes one of the most powerful tools in biomedical research. It is possible to achieve resolution figures beyond the diffraction limit, and improve the performance and flexibility of high-resolution imaging systems with techniques such as structured illumination microscopy (SIM) reconstruction. In this study, the hardware and software implementation of an LED-based super-resolution imaging system using SIM employing GPU accelerated parallel image reconstruction is presented.

DeepCAN: A Modular Deep Learning System for Automated Cell Counting and Viability Analysis.

Precise and quick monitoring of key cytometric features such as cell count, size, morphology, and DNA content is crucial in life science applications. Traditionally, image cytometry relies on visual inspection of hemocytometers. This approach is error-prone due to operator subjectivity.

[Investigation of Leishmania infantum Seroprevalance and Leishmaniasis Knowledge Level in Northern Cyprus].

Leishmaniasis is an infectious disease caused by Leishmania parasites, transmitted by sand flies and common in the Mediterranean region. Cyprus is located in the east of Mediterranean Sea and is considered endemic for Leishmaniasis. In our study, it was aimed to investigate Leishmania infantum IgG seropositivity in healthy volunteers living in different regions of Northern Cyprus and to determine the risk factors for Leishmaniasis and measure the level of public knowledge about the disease.

Understanding the Link between Inflammasome and Apoptosis through the Response of THP-1 Cells against Drugs Using Droplet-Based Microfluidics.

Droplet-based microfluidic devices are used to investigate monocytic THP-1 cells in response to drug administration. Consistent and reproducible droplets are created, each of which acts as a bioreactor to carry out single cell experiments with minimized contamination and live cell tracking under an inverted fluorescence microscope for more than 2 days. Here, the effects of three different drugs (temsirolimus, rifabutin, and BAY 11-7082) on THP-1 are examined and the results are analyzed in the context of the inflammasome and apoptosis relationship.

An Easy-to-Fabricate Microfluidic Shallow Trench Induced Three-Dimensional Cell Culturing and Imaging (STICI3D) Platform.

Compared to the established monolayer approach of two-dimensional cell cultures, three-dimensional (3D) cultures more closely resemble in vivo models; that is, the cells interact and form clusters mimicking their organization in native tissue. Therefore, the cellular microenvironment of these 3D cultures proves to be more clinically relevant. In this study, we present a novel easy-to-fabricate microfluidic shallow trench induced 3D cell culturing and imaging (STICI3D) platform, suitable for rapid fabrication as well as mass manufacturing.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.

A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome.

Beaulieu-Boycott-Innes syndrome (BBIS; MIM#613680) is a rare, autosomal recessive neurodevelopmental genetic disorder associated with pathogenic variants in the THOC6 gene (*615403). Intellectual disability, dysmorphic facial features, developmental delay, structural cardiac and genitourinary anomalies, and dental caries are suggestive findings of the syndrome. Exome sequencing (ES) may facilitate the diagnosis of this syndrome, whose clinical features can be nonspecific.

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Background: Cystic fibrosis, a pulmonary disease which is an autosomal recessive, inherited, multisystemic genetic disease commonly seen in the Caucasian race, is the most frequent cause of mortality and morbidity. So far, more than 2000 disease-causing gene variants have been found and this number has been increasing with the studies conducted. Although there is not yet enough data that include the Turkish population, the recent increase of studies is noteworthy.

Optically Transportable Optofluidic Microlasers with Liquid Crystal Cavities Tuned by the Electric Field.

Liquid crystal microdroplets with readily adjustable optical properties have attracted considerable attention for building reconfigurable optofluidic microsystems for sensing, imaging, and light routing applications. In this quest, development of active optical microcavities serving as versatile integrated sources of coherent light and ultra-sensitive environmental sensors has played a prominent role. Here, we study transportable optofluidic microlasers reversibly tunable by an external electric field, which are based on fluorophore-doped emulsion droplets of radial nematic liquid crystals manipulated by optical tweezers in microfluidic chips with embedded liquid electrodes.