An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.

Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian population. A unique therapeutic drug for FRDA, the antioxidant Omaveloxolone, has been recently approved by the US Food and Drug Administration (FDA). FRDA is a multi-systemic neurodegenerative disease; in addition to a progressive neurodegeneration, FRDA is characterized by hypertrophic cardiomyopathy, diabetes mellitus and musculoskeletal deformities.

Towards a Deeper Understanding: Utilizing Machine Learning to Investigate the Association between Obesity and Cognitive Decline-A Systematic Review.

: Several studies have shown a relation between obesity and cognitive decline, highlighting a significant global health challenge. In recent years, artificial intelligence (AI) and machine learning (ML) have been integrated into clinical practice for analyzing datasets to identify new risk factors, build predictive models, and develop personalized interventions, thereby providing useful information to healthcare professionals. This systematic review aims to evaluate the potential of AI and ML techniques in addressing the relationship between obesity, its associated health consequences, and cognitive decline.

Evaluation of the learning curve for Thulium laser enucleation of the prostate in a contemporary cohort.

Purpose: To assess the learning curve of Thulium laser enucleation of the prostate (ThuLEP) of a single surgeon.

Methods: Hundred patients suffering from benign prostatic hyperplasia were treated by the same surgeon. In all cases, a well-trained urologist was present in the operating room.

A comparison between vapor tunnel and virtual basket for the treatment of proximal ureteral stones using holmium:YAG laser (Cyber Ho): which is the best tool to reduce retropulsion?

Purpose: To compare vapor tunnel (VT) and virtual basket (VB) tools to reduce retropulsion in the treatment of proximal ureteral stones.

Methods: Patients with a single proximal ureteral stone were randomly assigned to holmium laser lithotripsy with the use of VT (Group A) or VB (Group B) tool. The 150W holmium:YAG cyber Ho generator was used.

Indocyanine green-marked fluorescence-guided off-clamp versus intraoperative ultrasound-guided on-clamp robotic partial nephrectomy: Outcomes on surgical procedure.

Objectives: To compare surgical and functional outcomes between off-clamp robot-assisted partial nephrectomy with indocyanine-green tumour marking through preliminary superselective embolization and on-clamp robot-assisted partial nephrectomy with intraoperative ultrasound identification of the renal mass.

Material And Methods: One hundred and forty patients with a single renal mass underwent indocyanine-green fluorescence-guided off-clamp robot-assisted partial nephrectomy with preoperative superselective embolization (Group A, 70 patients) versus intraoperative ultrasound-guided on-clamp robot-assisted partial nephrectomy without embolization (Group B, 70 patients). We assessed operative time, intraoperative blood loss, complications, length of stay, renal function, need for ancillary procedures and blood transfusions.

Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.

Huntington's disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin's polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifiers implicate somatic CAG repeat expansion as the driver of onset. We find that branaplam and risdiplam, small molecule splice modulators that lower huntingtin by promoting HTT pseudoexon inclusion, also decrease expansion of an unstable HTT exon 1 CAG repeat in an engineered cell model.

A proposed mathematical model to help preoperative planning between RIRS and MiniPerc for renal stones between 10 and 20 mm using holmium:Yag laser (Cyber Ho): the stone management according to size-hardness (SMASH) score.

To evaluate the performance of a mathematical model to drive preoperative planning between RIRS and MiniPerc (MP) for the treatment of renal stones between 10 and 20 mm. Patients with a renal stone between 10 and 20 mm were enrolled. A mathematical model named Stone Management According to Size-Hardness (SMASH) score was calculated: hounsfield units (HU) χ stone maximum size (cm)/100.

Evaluating adherence, tolerability and safety of oral calcium citrate in elderly osteopenic subjects: a real-life non-interventional, prospective, multicenter study.

Background: Osteoporosis is a common concern in the elderly that leads to fragile bones. Calcium supplementation plays a crucial role in improving bone health, reducing fracture risk, and supporting overall skeletal strength in this vulnerable population. However, there is conflicting evidence on the safety of calcium supplements in elderly individuals.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, with the lowest levels in the central and peripheral nervous systems (CNS and PNS, respectively). FD patients exhibit complex neurological phenotypes due to the loss of sensory and autonomic neurons.

Pathological report and prognostic meaning of Bosniak IV cysts: results from a contemporary cohort.

Introduction: Surgery is the recommended treatment for Bosniak IV renal cysts. We performed a retrospective analysis of Bosniak IV lesions surgically removed to increase evidence on their prognostic meaning.

Material And Methods: Patients with a Bosniak IV cyst were considered.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.

Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene. The reduction in ELP1 mRNA and protein leads to the death of retinal ganglion cells (RGCs) and visual impairment in all FD patients. Currently patient symptoms are managed, but there is no treatment for the disease.

Three-Dimensional Customized Imaging Reconstruction for Urological Surgery: Diffusion and Role in Real-Life Practice from an International Survey.

Despite the arising interest in three-dimensional (3D) reconstruction models from 2D imaging, their diffusion and perception among urologists have been scarcely explored. The aim of the study is to report the results of an international survey investigating the use of such tools among urologists of different backgrounds and origins. Beyond demographics, the survey explored the degree to which 3D models are perceived to improve surgical outcomes, the procedures mostly making use of them, the settings in which those tools are mostly applied, the surgical steps benefiting from 3D reconstructions and future perspectives of improvement.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 ( ) gene. This mutation results in a tissue-specific reduction of ELP1 protein, with the lowest levels in the central and peripheral nervous systems (CNS and PNS, respectively). FD patients exhibit complex neurological phenotypes due to the loss of sensory and autonomic neurons.

as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.

Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder whose motor, cognitive, and behavioral manifestations are caused by an expanded, somatically unstable CAG repeat in the first exon of that lengthens a polyglutamine tract in huntingtin. Genome-wide association studies (GWAS) have revealed DNA repair genes that influence the age-at-onset of HD and implicate somatic CAG repeat expansion as the primary driver of disease timing. To prevent the consequent neuronal damage, small molecule splice modulators (e.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.

Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 ( ) gene. The reduction in ELP1 mRNA and protein leads to the death of retinal ganglion cells (RGCs) and visual impairment in all FD patients. Currently, patient symptoms are managed, but there is no treatment for the disease.

Pulsed-wave vs Continuous-wave Thulium Fiber Laser Enucleation of the Prostate (ThuFLEP): A Comparison of Perioperative Outcomes.

Objective: To compare intra and early postoperative outcomes between pulsed-wave and continuous-wave Thulium Fiber Laser Enucleation of the Prostate (PW-ThuFLEP vs CW-ThuFLEP) for the treatment of benign prostatic hyperplasia.

Methods: 238 patients with lower urinary tract symptoms due to benign prostatic hyperplasia underwent PW-ThuFLEP (118 patients) vs CW-ThuFLEP (120 patients). Preoperative prostate volume, adenoma volume, prostate-specific antigen (PSA), and hemoglobin values were recorded.

Sexual Dysfunctions in Females with Parkinson's Disease: A Cross-Sectional Study with a Psycho-Endocrinological Perspective.

: Normal human sexual functioning is a complex integration of an intact neuroanatomic substrate, vascular supply, a balanced hormonal profile, and a predominance of excitatory over inhibitory psychological mechanisms. However, sexual functioning in Parkinson's disease (PD) is often overlooked in clinical practice, especially in female patients. : In this cross-sectional study, we have investigated the frequency of sexual dysfunction and the possible correlation with psycho-endocrinological factors in a sample of women with idiopathic PD.

Downregulation of Circulating Hsa-miR-200c-3p Correlates with Dyslipidemia in Patients with Stable Coronary Artery Disease.

Coronary heart disease (CHD), one of the leading causes of disability and death worldwide, is a multifactorial disease whose early diagnosis is demanding. Thus, biomarkers predicting the occurrence of this pathology are of great importance from a clinical and therapeutic standpoint. By means of a pilot study on peripheral blood cells (PBMCs) of subjects with no coronary lesions (CTR; n = 2) and patients with stable CAD (CAD; n = 2), we revealed 61 differentially methylated regions (DMRs) (18 promoter regions, 24 genes and 19 CpG islands) and 14.

Treatment of ureteral stones with LithoEVO device and Vapor Tunnel tool.

Background: Vapor Tunnel (VT) technology is the result of a pulse modulation during holmium laser emission which reduces stone retropulsion. We present the outcomes of this tool in the treatment of ureteral stones.

Methods: Two hundred ten patients with a ureteral stone were randomly assigned to holmium laser lithotripsy with (group A) or without (group B) the VT technology.

"Bordeaux Neobladder": First Evaluation of the Urodynamic Outcomes.

Background: The intracorporeal orthotopic modified-Y "Bordeaux" neobladder (iYNB) was first described in 2016. No urodynamic evaluation of this neobladder has yet been performed.

Objective: To present the urodynamic features of the iYNB and incontinence-specific health-related quality of life (HRQoL) outcomes.