Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.

Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency.

Doping in Combat Sports: a systematic review.

Purpose: This systematic review aims to synthesize the current research on doping in combat sports, examining the prevalence, detection methods, prevention strategies, and overall impact on combat sports.

Design/methodology/approach: Of the 21 identified articles, six met the inclusion criteria. A systematic approach was used, including content analysis based on specific criteria: articles in English, original research, and relevance to sport and doping.

First-line immune-based combinations or sunitinib in favorable-risk metastatic renal cell carcinoma: a real-world retrospective comparison from the ARON-1 study.

Introduction: Renal cell carcinoma (RCC) is one of the most common types of urogenital cancer. The introduction of immune-based combinations, including dual immune-checkpoint inhibitors (ICI) or ICI plus tyrosine kinase inhibitors (TKIs), has radically changed the treatment landscape for metastatic RCC, showing varying efficacy across different prognostic groups based on the International Metastatic RCC Database Consortium (IMDC) criteria.

Materials And Methods: This retrospective multicenter study, part of the ARON-1 project, aimed to evaluate the outcomes of favorable-risk metastatic RCC patients treated with immune-based combinations or sunitinib.

The Italian Version of the Ward Safety and Security Rules Survey for Mental Health Nurses: A Validity Study.

Ensuring safety in psychiatry is crucial, but practices vary widely. This study aimed to validate the Italian version of the Ward Safety and Security Rules Survey (WSSRS-I). The validation process included cultural-linguistic adaptation, followed by content and face validation.

The impact of breakfast skipping on plasma glucose levels in non-diabetic individuals: gender-based differences and implications.

Chrono-nutritional factors may play a significant role in glucose regulation and the risk of type 2 diabetes (T2D). We investigated the association between breakfast skipping (BS) and fasting plasma glucose (FPG) levels in a non-diabetic cohort of the ABCD project (nutrition, cardiovascular wellness and diabetes) representing the general population of Palermo, Italy Among the 623 participants included in the analysis, 118 individuals were identified as BS. In men, BS was associated with higher values of FPG ( < .

A Narrative Review of the Role of Immunotherapy in Metastatic Carcinoma of the Colon Harboring a BRAF Mutation.

Patients affected by metastatic carcinoma of the colon/rectum (mCRC) harboring mutations in the BRAF gene (MBRAF) respond poorly to conventional therapy and have a prognosis worse than that of patients without mutations. Despite the promising outcomes of targeted therapy utilizing multi-targeted inhibition of the mitogen-activated protein kinase (MAPK) signaling system, the therapeutic efficacy, especially for the microsatellite stable/DNA proficient mismatch repair (MSS/PMMR) subtype, remains inadequate. Patients with MBRAF/mCRC and high microsatellite instability or DNA deficient mismatch repair (MSI-H/DMMR) exhibit a substantial tumor mutation burden, suggesting a high probability of response to immunotherapy.

Measuring habituation to stimuli: The Italian version of the Sensory Habituation Questionnaire.

Sensory habituation allows us to decrease responsiveness to repetitive or prolonged stimuli over time, making them easy to filter out and not interfere with ongoing activities. As such, habituation could be an important aspect to be evaluated within a sensory and cognitive assessment. The main aim of the present study was to validate an Italian version of the Sensory Habituation Questionnaire (S-Hab-Q), a self-report tool assessing how long an adult individual takes to adapt to daily sensory stimuli.

Prostate cancer MRI methodological radiomics score: a EuSoMII radiomics auditing group initiative.

Objectives: To evaluate the quality of radiomics research in prostate MRI for the evaluation of prostate cancer (PCa) through the assessment of METhodological RadiomICs (METRICS) score, a new scoring tool recently introduced with the goal of fostering further improvement in radiomics and machine learning methodology.

Materials And Methods: A literature search was conducted from July 1st, 2019, to November 30th, 2023, to identify original investigations assessing MRI-based radiomics in the setting of PCa. Seven readers with varying expertise underwent a quality assessment using METRICS.

Impact of periodontal microRNAs associated with alveolar bone remodeling during orthodontic tooth movement: a randomized clinical trial.

Background: Micro-RNAs (miRNAs) have been reported to play an important role during orthodontic tooth movement (OTM) through the regulation of periodontal soft and hard tissue homeostasis and functions. The aim of the present study was to assess the effects of miRNAs on OTM and to evaluate possible predictors that influenced the overall OTM amount at a 3-month follow-up.

Methods: Through a split-mouth design, 21 healthy patients (mean age 13.

The impact of track and field training on dynapenia: gender differences in age-related decline of vertical jump performance among older adults.

Introduction: Alongside sarcopenia, the age-related loss of muscle strength and power, known as dynapenia, increases the risk of functional disability and mortality in older adults. However, engaging in sporting activities during old age appears to enhance functional capacity. The differences in effects between athletes and sedentary individuals, as well as between genders, have yet to be fully clarified.

Diabetic cardiomyopathy: pathophysiology, imaging assessment and therapeutical strategies.

Diabetes mellitus (DM) is one of the most prevalent cardiovascular risk factors in the general population, being associated with high morbidity and socioeconomic burden. Diabetic cardiomyopathy (DCM) is a non-negligible complication of DM, whose pathophysiological fundaments are the altered cardiac metabolism, the hyperglycemia-triggered formation of advanced glycation end-products (AGEs) and the inflammatory milieu which are typical in diabetic patients. These metabolic abnormalities lead to cardiomyocytes apoptosis, interstitial fibrosis and mechanical cardiac dysfunction, which can be identified with non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance.

Next-generation sequencing and drug resistance mutations of HIV-1 subtypes in people living with HIV in Sicily, Italy, 2021-2023.

Objectives: HIV-1 infection continues to be a significant public health concern, notwithstanding the expanded utilization of antiretroviral treatment (ART), due to the emergence of drug resistance. The prevalence of transmitted drug resistance remains uncertain, particularly concerning integrase inhibitors. This study aimed to assess the extent of HIV resistance in both ART-naïve and experienced individuals living with HIV (PLHIV) at the University Hospital in Palermo, Italy.

Anti-Collapsin Response Mediator Protein 5(CV2/CRMP5) and Anti-Glutamic Acid Decarboxylase (GAD) Antibodies-Mediated Encephalopathy Mimicking Atypical Parkinsonism.

: Paraneoplastic neurological syndromes (PNSs) are rare conditions characterized by immune-mediated pathogenesis, frequently associated with the presence of a neoplasm. Although a single antineuronal antibody mediates a specific syndrome, atypical manifestations mediated by the same antibody have been described. : The aim of this study was to report on an atypical case of PNS with dual positivity for anti-GAD65 and anti-CRMP5/CV2 antibodies, simultaneously characterized by cognitive decline associated with progressive ataxia and parkinsonism.

Exploring Nurses' and Nursing Students' Attitudes Toward Coercive and Technological Measures in Mental Health: A Conceptual Framework and Study Protocol.

Background/objectives: The use of coercive measures (CMs) and security technologies (STs) in mental healthcare continues to raise ethical and practical concerns, affecting both patient and staff well-being. Mental health nurses (MHNs) and nursing students (NSs) play a key role in the decision-making process regarding these interventions. However, their attitudes, particularly toward STs, remain underexplored in Italy.

Uncommon Nasal Mass Presentation: A Radiological Case Series.

Nasal and paranasal sinus masses can arise from a wide range of conditions, both benign and malignant, as well as congenital or acquired. Diagnosing these masses is often challenging, requiring a combination of nasal endoscopy, imaging studies, and histopathological analysis. Initial imaging frequently involves computed tomography or cone beam computed tomography (CBCT) to evaluate the bony anatomy of the nasal cavity and surrounding sinuses, while magnetic resonance imaging (MRI) is typically used for detailed assessment of soft tissues and to aid in differential diagnosis when the findings are inconclusive.

Relationship Between Short-Term Blood Pressure Variability and Choroidal-Retinal Thicknesses Assessed by Optical Coherence Tomography in Hypertensive Subjects.

The complications of hypertension depend not only on the mean blood pressure (BP) but also on its variability (BPV). Recent studies suggest that the choroid may serve as an indicator of systemic vascular damage. These studies have been made possible by the increased availability of optical coherence tomography (OCT).

Fulminant Invasive Aspergillosis in a Previously Healthy Woman After Cesarean Section and a Review of the Literature.

Invasive aspergillosis is an extremely rare condition in healthy and immunocompetent individuals, and very few cases have been reported in previously healthy, pregnant, or postpartum women. We describe a case of invasive aspergillosis in a puerperal patient and present literature review results. We present a case of fulminant invasive pulmonary aspergillosis with cerebral, cardiac, and gastric involvement in a young woman, occurring a few days after an elective cesarean section.

Developmental Psychology and Healthcare Professions: Autism Knowledge Among Nurses: An Observational Study.

One of the biggest limitations faced by autistic people is the lack of knowledge of their condition. Our study aims to evaluate and discuss the knowledge of autism among nurses, which is a social and health category often in close contact with autistic people. Given the limited exploration of awareness levels about autism among healthcare professionals, this study aims to investigate general and specific knowledge of autism within a group of nursing students enrolled in a master's degree.

Features of the Nurse-Patient Relationship: Insights from a Qualitative Review Using Artificial Intelligence Interpretation.

Introduction: This qualitative literature review explored the intersection of art, creativity, and the nurse-patient relationship in the context of oncology nursing. It delved into the perceptions and reflections of nurses as captured by Generative Artificial Intelligence (GAI) analysis from two specialized nursing databases.

Methods: The protocol was registered on the Open Science Framework (OSF) Platform.

Accuracy and Outcomes of Sentinel Lymph Node Biopsy in Male with Breast Cancer: A Narrative Review and Expert Opinion.

Male breast cancer (MBC) is a rare disease, accounting for less than 1% of all breast cancer cases. Sentinel lymph node biopsy (SLNB) has emerged as a less invasive alternative to axillary lymph node dissection (ALND) for axillary staging in breast cancer, offering reduced morbidity and comparable accuracy. However, the application of SLNB in MBC remains underexplored, with limited male-specific data and treatment protocols often extrapolated from female breast cancer studies.

Corrigendum to "Investigating hormesis, aging, and neurodegeneration: From bench to clinics".

[This corrects the article DOI: 10.1515/med-2024-0986.].