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Nrxn2 Homozygous Variant Identified in a Family With Global Developmental Delay, Severe Intellectual Disability, Eeg Abnormalities and Speech Delay: a New Syndrome?
No full textBackground. This study aims to characterize the clinical phenotype of a family with two siblings exhibiting neurological manifestations, utilizing whole exome sequencing (WES) to identify potential pathogenic variants within the NRXN2 gene. Methods. A consanguineous family with two affected siblings displaying developmental delay, severe intellectual disability, epilepsy, and speech delay was examined. WES was performed on DNA samples from affected and unaffected family members, followed by a comprehensive bioinformatics analysis. In-silico tools were employed for variant interpretation and structural modeling of the NRXN2 protein. Clinical and genetic data were integrated to elucidate the potential impact of the identified variant. Results. WES revealed a novel homozygous missense variant (c.1475T>G, p.Leu492Arg) in the NRXN2 gene in both affected siblings. This variant was absent in healthy family members and public databases. In-silico analysis predicted a detrimental effect on protein function. Parental segregation confirmed heterozygous carrier status. The variant was classified as ‘Likely Pathogenic’ based on ACMG/AMP criteria. Conclusion. This study identifies a novel homozygous missense variant in NRXN2 associated with global developmental delay, severe intellectual disability, speech delay and epilepsy. The findings underscore the critical role of NRXN2 in neurodevelopment and highlight the potential implications of genetic variations within this gene in neurodevelopmental disorders. Further research and functional validation are warranted to deepen our understanding of NRXN2-related disorders and explore potential therapeutic interventions. © EEG and Clinical Neuroscience Society (ECNS) 2025
Selective Embolization İn Renal Angiomyolipoma With Pseudoaneurysm;
No full textAngiomyolipomas are usually diagnosed incidentally and are usually asymptomatic. Dysmorphic blood vessels in angiomyolipomas usually do not contain an internal elastic lamina, so bleeding risks are high. Particularly, lesions larger than 4 cm have a tendency to become symptomatic and can present with life-threatening retroperitoneal or urinary bleeding. Although intrarenal or perinephric bleeding is the usual complication of angiomyolipomas, a pseudoaneurysm appears unusual. In this case, we aimed to present a patient with pseudoaneurysm, an unusual complication of angiomyolipoma. In this article, a patient who presented with complaints of left flank pain and hematuria and who underwent selective arterial embolization due to pseudoaneurysmatic angiomyolipoma in the left kidney is presented. The patient's angiography showed a large hypervascular mass filling the upper and middle segments of the left kidney. A pseudoaneurysmal filling originating from a subsegmental branch was observed in the mass. The patient underwent selective embolization. After 5 years of follow-up, the mass was observed to shrink. Angiomyolipomas are benign tumors, but especially symptomatic masses larger than 4 cm and especially masses with aneurysms larger than 5 mm can cause life-threatening retroperitoneal hemorrhages. Coexistence of angiomyolipomas with pseudoaneurysm is rare, especially. Safe, effective and minimally invasive selective arterial embolization can be safely performed to prevent massive bleeding and rupture. © 2025, Pamukkale University. All rights reserved
Impact Of Cisplatin On Kasumi-1 Leukemia Cell Line: Gene Expression And Dna Damage;
No full textPurpose: Leukemia is a type of cancer caused by the uncontrolled proliferation of blood cells. The purpose of this study was to investigate the effects of cisplatin (CIS), a chemotherapeutic agent used in the treatment of leukemia, on the Kasumi-1 leukemia cell line. Materials and methods: The study measured the effect of CIS on Kasumi-1 cells by calculating IC50 values for cell viability. The mRNA expression levels of apoptosis and cell cycle-related genes were then assessed using Real-Time PCR. In addition, the effects of CIS on DNA damage were investigated using the comet assay. Results: Significant changes in apoptosis and cell cycle-related genes were observed in CIS-treated groups. These included alterations in the mRNA levels of p53, BCL-2, CHECK 1, CDC25C, CDK 6, URG4/URGCP, GADD45A, CCND1, GADD45G, and ATM genes. Comet analysis confirmed CIS's effects on DNA damage. Conclusion: This study aimed to better understand how CIS affects genetic mechanisms in leukemia cells and provide new insights into leukemia treatment. The findings will help us better understand the role of CIS in leukemia treatment and will serve as a valuable reference for future research. © 2025, Pamukkale University. All rights reserved
The Effect of Breastfeeding Education To Immigrant Mothers in the Neonatal Intensive Care Unit on Breastfeeding Success: a Randomized Control Study
No full textIntroduction: The study aimed to evaluate the effect of education given to immigrant mothers on breastfeeding success of mothers. Method: The randomized-controlled, single-blind study was conducted in a neonatal intensive care unit of a state hospital in Turkey. The Mother-infant information form, Nutrition monitoring form, and LATCH Assessment Tool were used to collect the study data. Results: In the study, the mean LATCH score of the mothers in the experimental group was higher than that of the control group (P .05). It was determined that the breastfeeding duration of the mothers in the experimental group was longer, and the number of infants fed exclusively by breastfeeding was higher in the last follow-up (P .05). Discussion: It was found that breastfeeding education positively affected the breastfeeding success of immigrant mothers. This study reveals the positive effects of health education programs designed for immigrants on immigrant health
Origin of Bentonite Deposits in the Eastern Rif Belt (morocco): Constraints From New Mineralogical, Geochemical and Stable Isotopic Data
No full textAkouibaa, Mohamed/0000-0003-1893-4904The eastern Rif Belt in Morocco represents an important economic region in North Africa due to its extensive bentonite deposits. This study aimed to elucidate the formation processes and mechanisms of Providencia bentonite deposits, classified as yellow and white bentonites, surrounding the Upper Miocene rhyolitic Tidiennit Massif. Multidisciplinary approaches, integrating structural, lithostratigraphic, mineralogical, petrographical and geochemical analyses have been utilized to examine the properties of the bentonites and precursor (host) rocks. The X-ray diffraction analyses of the tuffs, perlites and rhyolites show that the presence of smectite, feldspar, amorphous silica (Opal-A and Opal-CT) and biotite in tuffs, feldspar, quartz, cristobalite and pyroxene in rhyolites, and amorphous silica, pyroxene, feldspar in perlites. The clay fraction patterns of yellow and white bentonites indicate the bentonites are composed of pure or nearly pure dioctahedral (Al-rich) smectite minerals. The characteristic bands observed in Fourier transform infrared spectroscopic analyses were also confirmed the presence of Al-rich smectites in the bentonites. The thermogravimetric and differential thermal analysis data show a total mass loss of 15.7% and 18.13%, and endothermic peaks of 698 degrees C and 678 degrees C representing the smectite from white and yellow bentonite, respectively. The major element concentrations indicate the sub- alkaline series, and the composition of dacite to rhyolite for tuffs, whereas rhyolite for perlites and rhyolites. The alteration index (AI) and the chlorite-carbonate-pyrite index (CCPI) data suggest a clear trend towards argillization of the volcanic tuffs surrounding the Tidiennit Massif. The chemical compositions of bentonites and precursor (host) rocks show an increase in Fe2O3, MgO, Al2O3, TiO2, P2O5, Nb, Y, Zn, Zr, total REE from rhyolitesperlites via tuffs to bentonites. The immobile element (Zr, Ti, Nb, Y in ppm) compositions of the bentonites represent a subduction zone (syn-collision and volcanic arc granites) environment. Bentonites and host rocks exhibit a negative Eu anomaly with respect to the chondrite and upper continental crust composition indicating the chemical fractionation from the rhyolitic/rhyodacitic source rocks through removal of Eu by plagioclase fractionation in a reducing environment. The structural formulas of smectites in yellow and white bentonites indicate the montmorillonite-beidellite series of smectite composition. The delta 18O and delta D isotope data of the smectites show that bentonitization was formed as a result of hydrothermal alteration (hypogene origin) of tuffs interacting with hydrothermal fluids at temperature conditions of 127-165 degrees C for yellow bentonites and 153-174 degrees C for white bentonites. Oxygen and hydrogen isotope compositions of smectite-forming fluids indicated that yellow bentonites formed from fluids with a relatively high magmatic water component, and subsequent dilution of the hydrothermal fluids, primarily composed of meteoric waters, caused the formation of white bentonites (re-bentonitization). The obtained data indicate that the bentonite deposits are the result of heat flux transmission to the host by conduction and triggering of a convective geothermal circuit facilitated by extensive tectonics favoring hydrothermal fluid circulation. The hydrothermal fluids, that migrated across the N-NE oriented normal faults, were mainly controlled the formation of the bentonites
Larvicidal and Antibiofilm Potential of Three Mountain Plants:i> Centaurea/I>i> Ensiformis,/I> i>origanum Hypericifolium/I>, i>paeonia Turcica/I>
No full textBackground: Plants are known to produce a diverse group of natural metabolites with different biological activities. Centaurea ensiformis P.H. Davis, Origanum hypericifolium O. Schwartz ; P.H. Davis, and Paeonia turcica Davis ; Cullen are endemic plant species that grow on mountains in select regions in T ; uuml;rkiye and have been used in traditional Turkish medicine for various ailments. Methods: As first, we evaluated the larvicidal and antibiofilm activities of ethanol, ethyl acetate, acetone, and water extracts obtained from these plants. Antioxidant activities of the extracts were also investigated. Results: All tested extracts were effective at concentrations > 25 ppm on Aedes aegypti larval mortality with the lethal concentration 50 (LC50) values ranging between 32.82-48.35 ppm and LC90 between 46.26-63.2 ppm. O. hypericifolium was the most effective plant, ethanol extracts presented LC50 values of 32.82 ppm. Extracts demonstrated varying degrees of antibiofilm activity depending on the dose and bacterial species. Origanum hypericifolium extracts notably inhibited biofilms of Staphylococcus aureus (up to 98% inhibition), while P. turcica showed moderate efficacy against the same bacterial species. Pseudomonas aeruginosa biofilms displayed high resistance to all extracts. Conclusion: The results indicated that these endemic Turkish plants possess promising larvicidal and antibiofilm potential, particularly Origanum hypericifolium. Extracts analyzed by liquid chromatography-tandem mass spectrometry contained caffeic acid, myricetin, cinnamic acid, quercetin, gallic acid, epicatechin, and ascorbic acid. Further research should explore their potential applications in mosquito control and biofilm-related infections
Fungal endophytes diversity and influencing factors in liquidambar orientalis mill. in Türkiye
No full textFungal endophytes were isolated from the leaves and petioles of Liquidambar orientalis Mill., an endangered species in T ; uuml;rkiye. Plant material was collected from 10 sites in September 2023, yielding 499 fungal isolates, classified into 38 morphological groups. DNA extraction and polymerase chain reaction (PCR) amplification of ITS and Beta-tubulin regions were conducted on representative isolates. All fungi belonged to the Ascomycota phylum, comprising 11 genera and 26 species across 15 families, with one group unidentified. The most prevalent families were Diaporthaceae (34.9%), Pleosporaceae (23.4%), and Botryosphaeriaceae (22.2%), with Diaporthe eres (15.0%) and Phomopsis sp. (12.4%) being dominant species. Fungal diversity was assessed using Shannon, Simpson, and Chao1 indices, revealing tissue type as the strongest factor influencing species diversity, followed by media and spatial factors. The presence of pathogenic families, such as Botryosphaeriaceae, highlights potential threats to the species. This is the first study to report fungal endophytes in L. orientalis, as well as the first records in T ; uuml;rkiye for several species, including Alternaria destruens, Alternaria alstroemeriae, Stemphylium majusculum, Diaporthe cynaroidis, Pseudopithomyces rosae, Nothophoma variabilis, Cladosporium endophyticum, Cladosporium colombiae, Muyocopron sp., Sphaerulina rhododendricola, Constantinomyces macerans, and Aequabiliella effusa.Pamukkale University BAP department [2023FEBE037]The authors are thankful to Pamukkale University BAP department (Project no: 2023FEBE037) for their financial support
Examination of sibling relationships of typically developing children with siblings with special needs
No full textThe aim of the study was to examine the sibling relationships of typically developing children who have siblings with special needs. The study was carried out with a phenomenological design. 18 children between the ages of 4-8 with special needs siblings and their parents participated in the study. The data obtained from the children in the research were analyzed through picture analysis and field notes; Data from parents were obtained through semi-structured interviews. Interviews with parents were analyzed with the Nvivo12 program and children's pictures were used as supporting data. In the research findings, it can be said that typically developing children accept their siblings with special needs, but they experience sibling conflicts. It is seen that these conflicts are reflected as sibling violence, with behaviors such as hitting and biting between siblings. Another finding is that typically developing children exclude their siblings with special needs or think that they themselves are excluded. As a result of the research, it can be said that even if the relationship between siblings is negative, the sibling with special needs is considered one of the family members and the positive family dynamics directly affects the sibling relationship. Additionally, violence between siblings should be treated as an issue that requires urgent intervention. Based on the findings of the study, various suggestions were presented for further research, such as organizing a family education program in order to prevent violence between siblings and increase quality communication within the family
Görüntü işleme temelli otonom sıra arası çapalama robotu
No full textGünümüzde mobil robot teknolojisi birçok sektörde oldukça yaygın bir şekilde kullanılmaktadır. Mobil robotlar fiziksel olarak belirli bir noktaya sabitlenmemiş, daha önceden tanımlanmış bir alanda hareket ederek istenilen görevleri yerine getirebilmektedir. Bu robotlar sayesinde insanların yapacağı tekrarlı operasyonel işlemler hızlı ve insandan bağımsız bir şekilde yapılabilmektedir.
Bu tez çalışmasında ülkemizin önemli ihraç ürünleri arasında yer alan tütün bitkisinin üretiminde yabani otların oluşturduğu yüksek verim kaybını önleyen ve toprağı havalandırarak verim artışı sağlayan, kullanımı kolay çiftçi dostu tam otonom bir tarım robotu tasarlanmıştır. Öncelikle robotun çalışacağı alanla ilgili araştırmalar yapılarak robota toprak tarafından gelen yüklerin etkileri hesaplanmıştır. Hesaplamalar sonucunda mekanik ve elektronik tasarımlar tamamlanmıştır. Mekanik analizler Solidworks programının simülasyon ve hareket analizi ortamında gerçekleştirilmiştir. Ardından robotun otonom bir şekilde sıra aralarında gezmesini sağlayan görüntü işleme yazılımı geliştirilmiştir. Görüntü işleme yazılımı, derin öğrenme algoritması olan YOLO (You Only Look Once) kullanılarak geliştirilmiştir.
Sonuç olarak bu tez çalışması ile tütün tarımında yabani ot kontrolünü otonom bir şekilde sağlayacak olan mobil tarım robotu tasarımı gerçekleştirilmiştir.robots are not physically fixed to a specific point, they can move in a predefined area and perform the desired tasks. Thanks to these robots, repetitive operational operations that people will do can be done quickly and independently of humans.
In this thesis study, an easy-to-use, farmer-friendly, fully autonomous agricultural robot that prevents high yield losses caused by weeds in the production of tobacco plants, which are among the important export products of our country and provide yield increase by aerating the soil was designed. First of all, research was conducted on the area where the robot will work and the effects of the loads coming from the soil to the robot were calculated. As a result of the calculations, mechanical and electronic designs were completed. Mechanical analyzes were performed in the simulation and motion analysis environment of the SolidWorks program. Then, image processing software was developed that allows the robot to move autonomously between the rows. The image processing software was developed using the deep learning algorithm YOLO (You Only Look Once).
As a result, the design of a mobile agricultural robot that will provide autonomous weed control in tobacco farming was realized with this thesis study