Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.

Targeting the hypothalamus for modeling age-related DNA methylation and developing OXT-GnRH combinational therapy against Alzheimer's disease-like pathologies in male mouse model.

The hypothalamus plays an important role in aging, but it remains unclear regarding the underlying epigenetics and whether this hypothalamic basis can help address aging-related diseases. Here, by comparing mouse hypothalamus with two other limbic system components, we show that the hypothalamus is characterized by distinctively high-level DNA methylation during young age and by the distinct dynamics of DNA methylation and demethylation when approaching middle age. On the other hand, age-related DNA methylation in these limbic system components commonly and sensitively applies to genes in hypothalamic regulatory pathways, notably oxytocin (OXT) and gonadotropin-releasing hormone (GnRH) pathways.

Dual activity of Minnelide chemosensitize basal/triple negative breast cancer stem cells and reprograms immunosuppressive tumor microenvironment.

Triple negative breast cancer (TNBC) subtype is characterized with higher EMT/stemness properties and immune suppressive tumor microenvironment (TME). Women with advanced TNBC exhibit aggressive disease and have limited treatment options. Although immune suppressive TME is implicated in driving aggressive properties of basal/TNBC subtype and therapy resistance, effectively targeting it remains a challenge.

A Comprehensive Review of Schizophrenia and Antipsychotic Metabolism as a Predictor of Treatment Response.

Some patients with schizophrenia fail to respond to standard antipsychotics and are considered treatment-resistant. In these cases, clozapine is the only antipsychotic with proven efficacy, but its use is complicated by severe adverse effects, complex monitoring requirements, and non-response. Variation within the CYP450 enzymes CYP1A2, CYP2D6, CYP3A4, and CYP2C19 has been linked to the differential metabolism of antipsychotics.

Large Language Models in Oncology: Revolution or Cause for Concern?

The technological capability of artificial intelligence (AI) continues to advance with great strength. Recently, the release of large language models has taken the world by storm with concurrent excitement and concern. As a consequence of their impressive ability and versatility, their provide a potential opportunity for implementation in oncology.

The Impact of Dose Rate on the Tumor Microenvironment Using Flattening-filter-free Beams.

Aims: Recently, dose delivery technology has rapidly evolved with flattening filter-free beams (FFF), and the biological effects of high dose rates are a matter of interest. We hypothesized that FFF beams at different dose rates obtained with modern linear accelerators have different effects on the TME.

Materials And Methods: The B16-F10 melanoma syngeneic tumor model was established, and mice were randomized to 2 different doses (2 Gy and 10 Gy) and 3 different dose rates (1 Gy/min, 6 Gy/min, and 14 Gy/min) along with the control group.

Dual activity of Minnelide chemosensitize basal/triple negative breast cancer stem cells and reprograms immunosuppressive tumor microenvironment.

Triple negative breast cancer (TNBC) subtype is characterized with higher EMT/stemness properties and immune suppressive tumor microenvironment (TME). Women with advanced TNBC exhibit aggressive disease and have limited treatment options. Although immune suppressive TME is implicated in driving aggressive properties of basal/TNBC subtype and therapy resistance, effectively targeting it remains a challenge.

Social isolation initiated post-weaning augments ischemic brain injury by promoting pro-inflammatory responses.

Social isolation is associated with poor stroke outcome, but the underlying molecular mechanisms were largely unknown. In male Balb/C mice exposed to transient middle cerebral artery occlusion (MCAo), we examined the effects of social isolation initiated post-weaning on ischemic injury, cytokine/chemokine responses and cell signaling using a broad panel of techniques that involved immunocytochemistry, cytokine/chemokine array and Western blots. Social isolation initiated post-weaning elevated infarct size, brain edema and neuronal injury in the ischemic brain tissue 3 days after MCAo, and increased microglia/ macrophage and leukocyte accumulation.

The Predictive Value of the Systemic Immune-Inflammation Index for the Progression of Lower Urinary Tract Symptoms in Men.

Introduction: This retrospective cross-sectional observational study aimed to investigate the predictive value of the systemic immune-inflammation index (SII) for the progression of lower urinary tract symptoms (LUTS) in men with benign prostatic hyperplasia (BPH).

Material And Method: A total of 280 patients diagnosed with LUTS were analyzed, and their demographic characteristics, laboratory results, urological parameters, and SII levels were recorded retrospectively.

Results: Clinical progression of LUTS was observed in 43.

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Introduction: Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome.

The integration of palliative care with oncology: the path ahead.

The delivery of comprehensive cancer care within a progressively intricate healthcare environment requires oncology providers to become well-versed in the integration of palliative care (PC). Moreover, as healthcare professionals are urged to prioritize the individual preferences of patients and their families who confront life-limiting illnesses, it has become evident that oncology patients and their families have identified their psychosocial care needs as multifaceted and distinct, calling for specialized attention from care providers. Nevertheless, this is a skill that can be acquired through learning and practice.

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Background: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor.

Aims: Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management.

Gestational Renal Cell Cancer - An Update.

Gestational renal cell carcinoma (RCC) is an uncommon occurrence and presents a diagnostic and clinical challenge for healthcare providers. The manifestation of gestational RCC often lacks overt symptoms and can mimic physiological changes and disorders associated with pregnancy. Frequently, patients are asymptomatic, and the condition is detected during routine antenatal ultrasonography.

Can Peripheral Blood Systemic Immune Response Parameters Predict Oncological Outcomes in Patients with Non-Muscle-Invasive Bladder Cancer?

Background: Many studies have investigated most cancer types - associations with systemic inflammatory response (SIR) parameters. Aim: This study investigated predictive values of SIR parameters in oncological outcomes and survival - to primary non-muscle-invasive bladder cancer (NMIBC) patients.

Materials And Methods: We analyzed 74 primary NMIBC patients.

Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.

Background/aim: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical diagnosis is difficult in early childhood, and it is possible to miss a critical interval for tumour screening. In this study, we aimed to characterize the mutational spectrum of Turkish patients and discuss the benefits of molecular testing.

Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.

Objectives: Familial Mediterranean Fever (FMF) is an inflammatory disease characterised by periodic fever and concurrent episodes of serous membrane inflammation. FMF is considered to be inherited in autosomal recessive manner and biallelic mutations in the MEFV gene are associated with the disease. However, approximately 20-25% of patients only have a single mutation in MEFV gene, which creates confusion in differential diagnosis of many patients.

Age-Associated Resilience Against Ischemic Injury in Mice Exposed to Transient Middle Cerebral Artery Occlusion.

Ischemic stroke is the leading cause of death and disability. Although stroke mainly affects aged individuals, animal research is mostly one on young rodents. Here, we examined the development of ischemic injury in young (9-12-week-old) and adult (72-week-old) C57BL/6 and BALB/c mice exposed to 30 min of intraluminal middle cerebral artery occlusion (MCAo).

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Overgrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study.

Peripheral Expression of Is Increased and Is Correlated with Autism Spectrum Disorder Severity in a Sample of Turkish Children.

Background: The aim of this study was to evaluate the peripheral expression of (Adenosine A2A receptor gene) in young subjects with autism spectrum disorder compared with healthy controls and its relationship with clinical characteristics.

Method: This study included 93 children and adolescents with a diagnosis of autism spectrum disorder as the study group and 105 healthy age- and gender-matched controls. Blood samples were obtained from all participants, and a real-time quantitative polymerase chain reaction was performed.

The Co-Use of Stromal Vascular Fraction and Bone Marrow Concentrate for Tendon Healing.

Objective: The Achilles tendon is the most frequently injured tendon in the human body, despite being the strongest. Many conventional treatments including medication, surgical interventions, and physical therapy are available, however, the desired results are often not achieved. Stromal vascular fraction (SVF) and bone marrow concentrate (BMC) are two additional cellular treatment options.

Familial clustering of nasopharyngeal carcinoma in the family of an adolescent with nasopharyngeal carcinoma.

Background: Nasopharyngeal carcinoma (NPC) is one of the rare malignant diseases of childhood, of which only 1% occurs in children. In recent years, genetic factors have attracted attention in NPC. A very limited data have been reported about clustering within families.