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Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders
No full textBackgroundThe PAN2 gene encodes a subunit of a deadenylation complex. CaseIn this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole-exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T>A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as likely pathogenic according to the ACMG 2015 criteria. ConclusionRecently, biallelic loss-of-function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease-causing for the first time in the literature
On (?,? ?q)-Fuzzy Ideals of Sheffer Stroke Hilbert Algebras with Respect to a Triangular Norm
No full textThe aim of this paper is to introduce the concept of (?,? ?q)-fuzzy ideals of Sheffer stroke Hilbert algebra with respect to t-norm and derive some interesting result. © 2025 Elsevier B.V., All rights reserved
Gremlin-1 and Wagner Classification: Potential Biomarker for Amputation in Diabetic Foot Patients
No full textDiabetic foot (DF) is a significant complication with high morbidity and mortality, often resulting from neuropathy and ischemia. In our study, we aimed to evaluate the relationship between serum Gremlin-1 levels and disease severity based on the Wagner classification in DF patients, and to determine its prognostic value in predicting the need for amputation.Eighty-five patients with DF ulcers or considered at high risk for DF were included in the study. The patients’ complications were evaluated, and laboratory results were obtained from their records. The Wagner classification was applied, and serum Gremlin-1 levels were analyzed using the ELISA method.It was found that as the Wagner stage of the DF increased, Gremlin-1 levels decreased significantly at the statistical borderline (p = 0.05). In the group of patients who underwent amputation, Gremlin-1 levels decreased significantly (p 7.5%, Gremlin-1 levels increased significantly (p < 0.05). In patients with albuminuria, serum Gremlin-1 levels decreased significantly (p < 0.05).It was determined that Gremlin-1 plays a role through an unknown mechanism in DF patients, and its levels decrease as the Wagner stage increases. Gremlin-1 levels were significantly decreased in the amputation group (p < 0.05). It was shown that Gremlin-1 could be a prognostic marker for predicting amputation. © 2025 Elsevier B.V., All rights reserved
Vaginal rejuvenation procedure using vaginal CO2 lazer technique
No full textAmaç: Fraksiyonel CO2 lazer, vajinal doku yenilenmesini teşvik etmek ve vajinal elastikiyeti iyileştirmek için kullanılır. Bu araştırmada amaç genital rejuvenasyon işlemi isteyen kadın hastaların demografik özelliklerini belirlemek, yapılan tedavi sonrası hasta memnuniyetini ve hasta memnuniyetine etki eden faktörleri değerlendirmektir. Gereç ve Yöntem: Merkezi Gümrük Hospitalı, Kadın hastalıkarı ve Doğum bölümünde yaptığımız araştırmada Ekim 2023 ile Ağustos 2024 tarihleri arasında fraksiyonel CO2 lazer vajinal rejuvenasyon uygulanan kadın hastaların verileri retrospektif olarak kaydedildi. Yapılan çalışmada hastaların lazer tedavi endikasyonu, yaş, parite, lazer uygulama süresi ve seans sayı, hastaya özel tedavi dozu, tedavi sonrası komplikasyonlar araştırılmıştır. PAP smear ve HPV testleri neqativ sonuç alınan kadınlar çalışmaya dahil edilmiştir. Genital kanser nedeni ile tedavi alan ve operasyon geçiren kadınlar çalışma dışı bırakılmıştır. Lazer cihazı olarak Pixel CO2 fraksiyonel Alma Femilift lazer kullanılmıştır. Bulgular: Vajinal genişlik nedeniyle kliniğimize müracaat eden toplam 14 hastanın 8-i (%57.14) 25-35 yaş, 5-i (%35.72) 35-45 yaş, 1-i (%7.14) ise 45 yaş üzerinde ve premenopozal dönemde idi. Femilift lazer uygulaması 4 hastada (%28.6) 2 seans, 10 kadında ise (%71.4) 1 seans olarak yapılmıştır. Uygulama sonrası hastaların % 82.86 (n=13) hissedilir ve yüksek oranda cinsel tatminde artış bildirmişlerdi. Yalnız 1 (%7.14) hastada yeterli sonuç alınamamıştır. Sonuç: Fraksiyonal CO2 lazerle vajina daraltma uygulamaları cerrahi bir işlem olmadığı için riskleri son derece az olan, anesteziye ihtiyaç duyulmadan, ağrı olmadan ve ileri teknolojili işlemlerdir. Sonuç itibarile, genital rejuvenasyon amacıyla başvuran kadın hastaların özellikle premenopoz döneminde tedaviden belirgin iyileşme görülmüş, gebelik, doğum sayısı ve doğum şeklinin tedavi memnuniyyetini etkileyen faktörler oldukları izlenilmiştir.Aim: Non-invasive methods applied to address cosmetic and functional problems of the genital area in female patients have been increasing in recent years. Fractional CO2 laser is used to stimulate vaginal tissue regeneration and improve vaginal elasticity. The aim of this study is to determine the demographic characteristics of female patients seeking genital rejuvenation procedures, assess patient satisfaction after the treatment, and evaluate the factors affecting patient satisfaction.. Materials and Methods: In our study conducted at the Obstetrics and Gynecology Department of Gümrük Hospital between October 2023 and August 2024, data of female patients who underwent fractional CO2 laser vaginal rejuvenation were recorded retrospectively. The study investigated the indications for laser treatment, age, parity, laser application duration, number of sessions, patient- specific treatment dosage, and post-treatment complications. Only women with negative PAP smear and HPV test results were included in the study. Women who were receiving treatment or had undergone surgery due to genital cancer were excluded. The Pixel CO2 fractional Alma Femilift laser device was used for the procedure. Results: A total of 14 patients presented to our clinic due to vaginal laxity. Of these, 8 (57.14%) were between 25-35 years old, 5 (35.72%) were between 35-45 years old, and 1 (7.14%) was over 45 years old and in the perimenopausal period. The Femilift laser application was performed with 2 sessions in 4 patients (28.6%) and with 1 session in 10 patients (71.4%). Post-treatment, 82.86% (n=13) of the patients reported a noticeable and significant increase in sexual satisfaction. Only 1 (7.14%) patient did not achieve satisfactory results. Conclusion: Fractional CO2 laser vaginal tightening procedures are non-surgical, low-risk treatments that do not require anesthesia, are painless, and utilize advanced technology. As a result, significant improvements have been observed in women seeking genital rejuvenation, particularly during the premenopausal period. It has been noted that factors such as the number of pregnancies, types of deliveries, and childbirth methods influence treatment satisfaction
Tiroid piramidal lob sıklığının ve tiroglossal duktus kisti ile ilişkisinin ultrasonografi ile değerlendirilmesi
No full textAim: To evaluate the prevalence of the pyramidal lobe, associated thyroid pathologies, and its relationship with the thyroglossal duct cyst using ultrasonography (US). Materials and Methods: Between December 2022 and July 2024, 1132 patients who underwent thyroid or neck US examinations were retrospectively reviewed. Additionally, 128 total thyroidectomy patients who were not included in the analysis of the pyramidal lobe were also evaluated for the presence and location of residual thyroid tissue. Results: The pyramidal lobe was detected in 526 (46.5%) patients and was observed less frequently in patients with reduced thyroid gland size (23.2%; p=0.002). The pyramidal lobe predominantly arose from the left half of the isthmus (51.5%). In 8 (1.5%) patients, a nodule was observed in the pyramidal lobe. A pyramidal lobe was detected in 12 (80%) cases with thyroglossal duct cyst. A significant relationship was found between the presence of a pyramidal lobe and the presence of a thyroglossal duct cyst (p=0.009). No relationship was found between the presence of a pyramidal lobe and chronic thyroiditis, subacute thyroiditis, Graves’ disease, and a nodule in the thyroid gland (p>0.05). Pyramidal lobe residue was detected in 18% of patients who underwent total thyroidectomy. Conclusion: The pyramidal lobe is a commonly observed accessory lobe of the thyroid gland. This study has demonstrated its relationship with the thyroglossal duct cyst, another remnant of the thyroglossal duct. It is important to evaluate both embryological remnants with preoperative ultrasound to prevent possible recurrences after total thyroidectomy.Amaç: Piramidal lob sıklığının, eşlik edebilecek tiroid patolojilerinin ve piramidal lobun tiroglossal duktus kisti ile ilişkisinin ultrasonografi (US) ile değerlendirilmesi amaçlanmıştır Gereç ve Yöntem: Aralık 2022 ile Temmuz 2024 tarihleri arasında tiroid veya boyun US tetkiki yapılan 1132 hasta retrospektif olarak incelendi. Ayrıca piramidal lob analizine dahil edilmeyen 128 total tiroidektomili hasta da operasyon sonrasında rezidü tiroid dokusu varlığı ve yerleşimi yönünden değerlendirildi. Bulgular: Hastaların 526 (%46,5)’sında piramidal lob saptandı ve tiroid bezi boyutu azalmış olgularda piramidal lob daha az sıklıkla izlendi (%23,2; p=0,002). Piramidal lobun ağırlıklı olarak istmus sol yarımından (%51,5) köken aldığı görüntülendi. Hastaların 8 (%1,5)’inde piramidal lobda nodül izlendi. Tiroglossal duktus kisti mevcut olan olguların 12 (%80)’sinde piramidal lob saptandı. Piramidal lob ile tiroglossal duktus kisti varlığı arasında anlamlı ilişki bulundu (p=0,009). Kronik tiroidit, subakut tiroidit, Graves hastalığı ve tiroid bezinde nodül varlığının piramidal lob mevcudiyeti ile ilişkisi saptanmadı (p>0,05). Total tiroidektomili hastaların %18’inde piramidal lob rezidüsü tespit edildi. Sonuç: Piramidal lob, tiroid bezinin sık görülen aksesuar lobu olup, bir diğer tiroglossal duktus kalıntısı olan tiroglossal duktus kisti ile ilişkisi bu çalışmada gösterilmiştir. Total tiroidektomi planlanan hastalarda olası nükslerin önlenmesi için her iki embriyolojik kalıntının da cerrahi öncesi US ile değerlendirilmesi önem taşımaktadır
Kum ve geosentetik malzemelerin ara yüzey kesme dayanımlarına etki eden faktörlerin incelenmesi
No full textGeosentetik malzemeler istinat duvarı, yol, zemin drenajı ve benzeri yapılarda malzemenin ayırıcı, stabilite, filtre, drenaj ve koruma özelliklerinden faydalanmak amacıyla kullanılmaktadır. Geotekstiller zeminin kayma dayanımına etki eden faktörleri çeşitli yollarla iyileştirmesini sağlamaktadır. Bu çalışmada, geosentetik malzemelerin kum zeminlerin dayanımını nasıl etkilediğini incelemek için kesme kutusu deneyleri yapılmıştır. Yapılacak deneylerin malzemelerini belirlemek ve önceden üzerinde çalışılmamış parametreleri tespit etmek için literatür araştırmaları yapılmıştır. Sonunda kesme kutusu deneylerinde önceden kullanılmamış geotekstiller ve deneylerde incelenecek parametreler belirlenmiştir. Tez çalışmasında kullanılan malzemeler, örgülü geotekstil, geokompozit, iki tür örgüsüz geotekstil ve altı farklı kum zeminden oluşmaktadır. Bu malzemeler altı farklı normal gerilme ve 2 farklı sıkılık değerinde 10x10 cm'lik kesme kutusu deneylere tabi tutulmuştur. Deney sonuçları beklenildiği gibi geotekstil donatı zeminlerin hepsinde pik dayanım sonrasında kayma dayanımında donatısız zeminlere kıyasla daha az bir düşüş görülmüştür. Ayrıca, her geotekstil, farklı zeminlerde ara yüzey sürtünme açısını daha verimli bir şekilde artırmıştır. Bu sonuçların başlıca sebeplerinin kullanılan geotekstilin sertliği, temas yüzey alanı, dokusu ve kesme kutusuna yerleştirilme şekli olduğu belirlenmiştir.Geotextiles are used in many applications like retaining walls, roads, and ground drainage systems due to their functions such as separation, stability, filtration, drainage reinforcement, and protection. Geotextiles improve the factors affecting the shear strength of soil in various ways. In this study, shear box tests were conducted to examine how geosynthetic materials affect the strength of sand soils. Literature review was conducted to determine the materials for the experiments to be performed and to determine the parameters that have not been studied before. Finally, geotextiles that were not used in the shear box tests were found. The materials used in the thesis study consist of woven geotextile, geocomposite, two types of non-woven geotextile and six different sand soils. These materials were subjected to 10x10 cm shear box tests at 6 different normal stress levels and 2 different relative density values. As expected, the test results showed that in all geotextile reinforced soils, a lesser decrease in shear strength was observed after the peak strength compared to unreinforced soils. In addition, each geotextile increased the interface friction angle more efficiently on different soils. The main reasons for these results were determined to be the hardness of the geotextile, its contact surface area, texture and the way it was placed in the shear box
The effect of game-based learning on the acquisition of intramuscular injection skills
No full textAim: This study aims to determine the efficiency of game-based learning in nursing students' IMI skills training. Background: Today, with the unstoppable development of digital technologies, the skills required by modern health services and the needs of nursing students have changed. For this reason, new teaching methods have been researched instead of traditional methods. Game-based learning will choose a dynamic learning environment for the use of game design elements in the acquisition of knowledge and the teaching of psychomotor skills, based on the theory of experimental learning while improving learning experiences with active student participation. However, its use in nursing education is limited. Design: A pretest-posttest randomized controlled experimental study design was used. Methods: The study was conducted at Ege University Faculty of Nursing in western Turkey. The sample size was determined through stratified randomization method and 135 nursing students participated in the study. Data were gathered by questionnaire method with the Student Descriptive Characteristics Form (SDCF), Intramuscular Injection Knowledge Form (IMIKF), Intramuscular Injection Implementation Checklist (IMIIC), Student Satisfaction and Confidence in Learning Scale (SSCLS) and Visual Comparison (Comfort) Scale (VCS). The chi-square test, the Mann-Whitney U test and the Brunner Langer method were performed in the SPSS 25.0 program. Results: After the Intramuscular Injection Game-Based Learning Practice (IMIGBLP), the mean score of IMIICL (61 +/- 4.4) of the intervention group was significantly higher than the mean score of the control group (38 +/- 2.1) (p<0.05). The mean score of the students in the intervention group was determined to be significantly higher than the mean score of the control group (p<0.05). A significant difference was detected between the intervention and control group students in terms of their VCS scores after IMIGBLP (p<0.05). Conclusion: Considering the results of the study, it is recommended to use the game-based learning method in psychomotor skill training in nursing
Effects of different mixtures of maize and quinoa intercropping on grain yield and fatty acid composition of oil under water reduction
No full textThe objective of this study was to ascertain the impact of drought on quinoa (Chenopodium quinoa) and maize (Zea mays L.) grown in intercropping at varying mixing rates, which represents a model of sustainable agricultural food production under the Mediterranean climate. The experiment included plots with five different crop combinations (25% quinoa - 75% maize, 50% quinoa - 50% maize, and 75% quinoa - 25% maize) as well as monoculture (100% quinoa and 100% maize). To ensure drought stress, plots with half the water holding capacity of the soil (W2) were used in addition to the full water holding capacity of the soil (W1). Drought stress caused dramatic decreases in the seed yield of both crops. The addition of a low rate of quinoa (25%) to the cultivation plot did not have a significantly (less than 10%) negative effect on the maize yield, despite the reduction in the number of maize plants. Similarly, growing a low rate of maize (25%) between quinoa rows increased quinoa yield under both irrigation conditions (P 1) than those grown alone. Drought stress significantly affected the composition of oil, increasing palmitic acid and decreasing oleic, linoleic, and linolenic acid. The findings demonstrate that under conditions of drought stress, intercropping of quinoa and maize can partially tolerate reductions in both the product quantity and the composition of oil. These results indicate a harmonious relationship between the plants, particularly when the mixing rates include 25% quinoa-75% maize and 75% quinoa-25% maize. © 2025 Elsevier B.V., All rights reserved
