Using cortical organoids to understand the pathogenesis of malformations of cortical development.

Malformations of cortical development encompass a broad range of disorders associated with abnormalities in corticogenesis. Widespread abnormalities in neuronal formation or migration can lead to small head size or microcephaly with disorganized placement of cell types. Specific, localized malformations are termed focal cortical dysplasias (FCD).

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.

Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).

Analyse of patient characteristics and aetiological causes of enterocutaneous fistulas and their impacts on in-hospital mortality: a ten-year retrospective cohort study.

Introduction: This study aimed to compare patient characteristics according to the primary aetiology including gunshot wounds in inpatient individuals diagnosed with enterocutaneous fistula (ECF) or enteroatmospheric fistula (EAF) and to evaluate the impacts of these characteristics on all-cause in-hospital mortality.

Methods: This is a single-centre hospital-based retrospective cohort study conducted with adult patients who were hospitalised for treatment of ECF or EAF. The patients were allocated to three study groups according to their primary aetiology (surgery-related group, gunshot-related group and other-cause group).

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders.

Neurodevelopmental disorders (NDDs) affect 4.7% of the global population and are associated with delays in brain development and a spectrum of impairments that can lead to lifelong disability and even mortality. Identification of biomarkers for accurate diagnosis and medications for effective treatment are lacking, in part due to the historical use of preclinical model systems that do not translate well to the clinic for neurological disorders, such as rodents and heterologous cell lines.

Predictive Modeling Is a Reliable Indicator in Determining Excessive Renal Mobility Single-Center Randomized Study.

Excessive kidney mobility is an underestimating challenge for surgeons during retrograde intrarenal surgery (RIRS) and extracorporeal shock wave lithotripsy (ESL). There is no technique approved as a gold standard procedure for reducing excessive kidney mobility. The study aimed to uncover predictive factors for determining excessive renal mobility by utilizing clinicodemographic characteristics and noncontrast computed tomography (NCCT) data.