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.

Foreign Body in the Breast: A Case Report.

Foreign bodies in the breast are rarely encountered and may infrequently lead to complications such as persistent breast pain, abscess, and/or granuloma formation, pneumothorax, or cardiac tamponade. We aimed to present a case with a foreign body in her right breast, which was diagnostically missed in previous screenings. A 44-year-old asymptomatic woman, who was included in the national breast cancer screening program, was found to have a 2 cm-sized metallic foreign body in the upper-outer quadrant of her right breast via mammographic imaging.

Evaluation of global warming effects on juvenile rainbow trout: focus on immunohistochemistry and osmoregulation.

The negative effects of global warming also directly affect aquatic populations. Consequences such as evaporation due to chronic temperature increase, increase in salinity, and increase in stock density per unit volume are potential stress factors. While creating the trial design, an attempt was made to simulate the effects of global warming, especially on species living in salty and brackish water biotopes.

Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Thalassemia Major: How Do Anti-HLA Antibodies Impact?: The Impact of Anti-HLA Antibodies on Transplantation Outcomes in Thalassemia Major.

Aim: To investigate the effects of anti-human Leucocyte Antigen (HLA) antibody positivity on early hematopoietic stem cell transplantation (HSCT) results in patients with thalassemia major (TM).

Methods: One hundred and twenty-four HLA-matched HSCTs were performed in patients with TM between 2015 and 2022. Ninety-one patients were screened for anti-HLA antibodies by testing panel reactive antigens (PRA).

A Novel Electrocardiographic Marker to Predict the Development of Preeclampsia: Frontal QRS-T Angle-A Prospective Pilot Study.

: Preeclampsia, a pregnancy-induced hypertensive disorder, shares cardiovascular characteristics in etiology, prognosis, and fetomaternal risks. Electrocardiography plays a pivotal role in assessing cardiovascular risks. Beyond conventional predictors, identifying easily obtainable and reproducible electrocardiographic markers may significantly contribute to the early identification of individuals at risk of preeclampsia.

Evaluation of the Electroconvulsive Therapy's Impact on Retinal Structures in First-Episode Psychosis Patients Using Optical Coherence Tomography.

Background And Hypothesis: Schizophrenia is a complex disorder thought to have neurodevelopmental and neurodegenerative aspects. Optical coherence tomography (OCT) measurements of schizophrenia patients revealed that the retinal layers of these patients were thinner than those of healthy controls. This study aimed to examine retinal changes in first-episode psychosis patients treated with electroconvulsive therapy (ECT) via OCT.

Unveiling genetic defense mechanisms: expression analysis of hym, AmNrx1, and CYP9Q3 genes in Varroa-resistant anatolian honey bees.

The Varroa destructor represents a significant threat to honey bees, leading to substantial yield losses and declines in colony health. Defense behaviors, including grooming (auto and allogrooming), serve as crucial mechanisms against Varroa infestations, yet the genetic basis of these behaviors remains elusive. This study examines the expression levels of hymenoptaecin (hym), neurexin-1 (AmNrx1), and CYP9Q3, potentially associated with defense behavior, in colonies of the Muğla honey bee ecotype (Apis mellifera anatoliaca) subjected to a Varroa selection program.

Effects of Chlorella sp. and Schizochytrium sp. extracts on growth indices, body composition, and gene expression profiles in rainbow trout (Oncorhynchus mykiss).

This study assessed the impact of dietary Chlorella sp. and Schizochytrium sp. extracts on growth performance, feed utilization, body composition, and gene expression related to growth, digestion, antioxidant defense, and immune response in rainbow trout (Oncorhynchus mykiss).

The liminal experience of awaiting for a cadaveric kidney donation: "I would not wish it on even my enemy!".

This study aims to explore the concept of liminality in the lives of chronic kidney disease (CKD) patients in Turkiye who are undergoing dialysis while awaiting kidney transplants. The research focuses on how patients experience this transitional state, being between life stages, and how they cope with the uncertainty of their condition while aspiring for a transplant. The research involved in-depth, semi-structured interviews and participant observations of 34 dialysis patients who had been registered on the national organ waiting list for over five years.

Factors Affecting Procedural Pain and Discomfort Experienced by Individuals During Nasopharyngeal Swabbing: A Cross-Sectional Study.

Aim: This descriptive and cross-sectional study investigated the individual factors that affect procedural pain and discomfort in individuals who had nasopharyngeal swabs by nurses.

Methods: A total of 193 participants in two COVID-19 test centers located in a city in Southeastern Türkiye between April and May 2022 were included in this study. Personal information form was used to collect data.

Species in Small Mammals in Turkey: sp. nov. Isolated from a Ural Field Mouse (.

The genus is composed of Gram-negative, fastidious, facultative intracellular bacteria that can cause bacteremia in mammals and various disorders in humans. Rodents have been reported as reservoirs of more than 30 species, seven of which cause zoonotic infections. In the present study, the isolation of sp.

Radical Cystectomy with Ileal Orthotopic Neobladder after 70 Years Leads to Worse Health-Related Quality of Life.

Radical cystectomy (RC) with the formation of an ileal orthotopic neobladder (ONB) may adversely affect long-term health-related quality of life (HRQOL). An advanced age at the time of ONB construction could further exacerbate the decline in HRQOL. This study aims to establish an evidence-based age threshold at the time of RC with ONB, beyond which a significant deterioration in HRQOL is observed.

3D color-rendered MR neurography heatmaps in visualizing normal lumbosacral (LS) plexus and increasing conspicuity of LS plexopathy.

Purpose: To determine whether color-rendered 3D MR neurography (MRN) images (heatmaps) improve diagnostic accuracy, reader confidence levels, and time savings to assess LS plexus lesions compared to the conventional grayscale images.

Materials And Methods: A cross-sectional study included adults of all genders with randomly chosen MRNs of LS plexus and known reference standards of normal or neuropathy (plexopathy and radiculopathy). Heatmaps were constructed using 3D MRN STIR images and color rendered with higher intensity to yellow and lower intensity to darker-red colors in 1-2 min on average and were available on PACS for the readers.

Trauma levels and perspectives on dignified death among nurses and physicians who directly experienced the recent earthquake.

Background: Unexpected, sudden, and tragic losses can prompt us to reflect on the concept of a "good death." The earthquake disaster that struck our country in 2023 vividly demonstrated the challenging impact of such events, which can turn lives upside down and compel us to question the notion of a "good death." This study aims to determine the perceptions of a "good death" and the levels of trauma experienced by physicians and nurses who directly witnessed the earthquake disaster, and to understand the relationship between these factors.

Outcomes of pregnancies diagnosed with absent or abnormal fetal gallbladder in a tertiary center.

Objective: The objective of this study was to investigate the ultrasonographic characteristics and outcomes of fetuses with atypical and non-visualized fetal gallbladder in our tertiary care hospital.

Methods: A retrospective analysis was conducted on cases in which the fetal gallbladder was not visualized or exhibited atypical characteristics at our institution over a four-year period. The patients were divided into two groups: absent gallbladder and atypical gallbladder.

Impact of low-pressure pneumoperitoneum and deep neuromuscular blockade on surgeon satisfaction and patient outcomes in laparoscopic cholecystectomy patients: A prospective randomised controlled study.

Introduction: The impact of laparoscopic surgery on homeostatic systems necessitates careful consideration of intra-abdominal pressure (IAP) management. This study investigated the effects of low-pressure pneumoperitoneum with deep neuromuscular blockade (NMB) on surgeon satisfaction, haemodynamics and post-operative outcomes in laparoscopic cholecystectomy patients.

Patients And Methods: The study design involves prospective randomised control.