Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.

Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.

Effect of experimental knee pain location on gait kinematics.

Purpose: In this study, we investigated whether experimental knee pain alters lower limb kinematics and knee arthrokinematics during gait, and if this motor adaptation depends on the spatial characteristics of the painful stimulus.

Methods: Twenty-one participants walked on a treadmill for 60-s trials, either without stimulation or while experiencing painful electrical stimulation in the medial, lateral or anterior region of the knee. Perceived pain location was analyzed using pain drawing.

A systematic review on L.: bioactive compounds, nutritional properties and food-industry applications of a sustainable food.

The cardoon ( L.), is a perennial plant belonging to the Asteraceae family, and its cultivated species are widely used in the Mediterranean diet. This review provides an overview of cardoons' chemical composition, bioactive properties and multiple industrial and food applications.

Follow-up strategies after trimodal treatment for muscle-invasive bladder cancer: a systematic review.

Purpose: Optimal follow-up strategies following trimodal treatment for muscle invasive bladder cancer play a crucial role in detecting and managing relapse and side-effects. This article provides a comprehensive summary of the patterns and risk factors of relapse, functional outcomes, and follow-up protocols.

Methods: A systematic literature search on PubMed and review of current guidelines and institutional follow-up protocols after trimodal therapy were conducted.

The Effect of Experimentally Induced Pain in the Cervical, Shoulder, or Orofacial Regions on Cervical Neuromuscular and Kinematic Features: A Systematic Review and Meta-analysis.

In this systematic review, we synthesize the literature investigating the effect of experimentally induced pain in the cervical, shoulder, or orofacial regions on cervical neuromuscular and kinematic features. Databases were searched up to November 1, 2023. A total of 29 studies using hypertonic saline injection (n = 27) or glutamate injection (n = 2) as experimental pain models were included.

Hormonal Agents in Localized and Advanced Prostate Cancer: Current Use and Future Perspectives.

Prostate cancer (PC) is generally a hormone-dependent tumor. Androgen deprivation therapy ( has been the standard of care in metastatic disease for more than 80 years. Subsequent studies have highlighted the efficacy of ADT even in earlier disease settings such as in localized disease or in the case of biochemical recurrence (BCR).

The Impact of Second Opinion Expert Pathology Review in Patient Management at the Time of Transurethral Resection of the Bladder.

Background And Objective: Pathological features in non-muscle-invasive bladder cancer specimens are pivotal in determining correct patients' therapeutic management. Sparse data exist regarding the importance of second opinion performed by an expert uropathologist. This study aimed to assess the importance of a second opinion by an expert uropathologist in the management of bladder cancer.

The effect of trunk position and pain location on lumbar extensor muscle recruitment strategies.

The aim of this study was to investigate the effect of trunk position and experimental lumbar pain location on lumbar extensor muscle recruitment strategies. Nineteen healthy participants (10 men and 9 women), aged 25.3 ± 4.

Role of cytoreductive radical prostatectomy in men with oligometastatic prostate cancer on molecular imaging.

Purpose Of Review: The implementation of PET with prostate-specific membrane antigen (PSMA) tracer as primary staging tool occurred recently. Since its introduction, a novel category of patients emerged, with negative staging at conventional imaging, and positive molecular imaging. Local treatment in these patients might be associated with improved oncological outcomes when combined with systemic therapy.

Strong humoral response after Covid-19 vaccination correlates with the common HLA allele A*03:01 and protection from breakthrough infection.

Few data exist on the role of genetic factors involving the HLA system on response to Covid-19 vaccines. Moving from suggestions of a previous study investigating the association of some HLA alleles with humoral response to BNT162b2, we here compared the HLA allele frequencies among weak (n = 111) and strong (n = 123) responders, defined as those healthcare workers with the lowest and the highest anti-Spike antibody levels after vaccination. Individuals with clinical history of Covid-19 or positive anti-nucleocapside antibodies were excluded.

Vestibular control of deep and superficial lumbar muscles.

The active control of the lumbar musculature provides a stable platform critical for postures and goal-directed movements. Voluntary and perturbation-evoked motor commands can recruit individual lumbar muscles in a task-specific manner according to their presumed biomechanics. Here, we investigated the vestibular control of the deep and superficial lumbar musculature.

Stool Microbiome Signature Associated with Response to Neoadjuvant Pembrolizumab in Patients with Muscle-invasive Bladder Cancer.

Neoadjuvant pembrolizumab has been shown to be a valid treatment for patients affected by muscle-invasive bladder cancer (MIBC), as demonstrated in the PURE-01 clinical trial (NCT02736266). Among the tumor-extrinsic factors influencing immunotherapy efficacy, extensive data highlighted that the microbiome is a central player in immune-mediated anticancer activity. This report aimed to investigate the composition and role of stool microbiome in patients enrolled in the PURE-01 clinical trial.

Remote assessment of pelvic kinematics during single leg squat using smartphone sensors: Between-day reliability and identification of acute changes in motor performance.

The biomechanical assessment of pelvic kinematics during a single leg squat (SLS) commonly relies on expensive equipment, which precludes its wider implementation in ecological settings. Smartphone sensors could represent an effective solution to objectively quantify pelvic kinematics remotely, but their measure properties need to be evaluated before advocating their use in practice. This study aimed to assess whether measures of pelvic kinematics collected remotely using smartphones during SLS are repeatable between days, and if changes in pelvic kinematics can be identified during an endurance task.

Effect of movement-evoked and tonic experimental pain on muscle force production.

Introduction: When performing an exercise or a functional test, pain that is evoked by movement or muscle contraction could be a stronger stimulus for changing how individuals move compared to tonic pain. We investigated whether the decrease in muscle force production is larger when experimentally-induced knee pain is directly associated to the torque produced (movement-evoked) compared to a constant painful stimulation (tonic).

Methods: Twenty-one participants performed three isometric knee extension maximal voluntary contractions without pain (baseline), during pain, and after pain.

Cervical musculoskeletal impairments and pressure pain sensitivity in office workers with headache.

Background: Office workers are specifically vulnerable to headache conditions. Neck pain is reported by almost 80% of patients with headaches. Associations between currently recommended tests to examine cervical musculoskeletal impairments, pressure pain sensitivity and self-reported variables in headache, are unknown.

Lumbar muscle adaptations to external perturbations are modulated by trunk posture.

Purpose: To investigate if the recruitment of different regions within the lumbar extensor muscles in response to unexpected perturbations depends on trunk posture.

Methods: In a semi-seated posture, healthy adult participants experienced unexpected posterior-anterior trunk perturbations in three different postures: neutral, trunk flexion and left trunk rotation. High-density surface electromyography was used to identify the regional distribution of activation within the lumbar erector spinae muscles.

Comparison between two patient-reported outcome measures for patients with cervical radiculopathy: A think-aloud study.

Background: The Cervical Radiculopathy Impact Scale (CRIS) and Patient Specific Functional Scale 2.0 (PSFS 2.0) are patient-reported outcome measures (PROMs) used to assess activity limitations in patients with cervical radiculopathy (CR).

Cholinergic regulation of vascular endothelial function by human ChAT T cells.

Endothelial dysfunction and impaired vasodilation are linked with adverse cardiovascular events. T lymphocytes expressing choline acetyltransferase (ChAT), the enzyme catalyzing biosynthesis of the vasorelaxant acetylcholine (ACh), regulate vasodilation and are integral to the cholinergic antiinflammatory pathway in an inflammatory reflex in mice. Here, we found that human T cell ChAT mRNA expression was induced by T cell activation involving the PI3K signaling cascade.

Risks and benefits of partial nephrectomy performed with limited or with zero ischaemia time.

Objective: To test the hypothesis that longer warm ischaemia time (WIT) might have a marginal impact on renal functional outcomes and might, in fact, reduce haemorrhagic risk intra-operatively.

Patients And Methods: Data from 1140 patients treated with elective partial nephrectomy (PN) for a cT1-2 cN0 cM0 renal mass were prospectively collected. WIT was defined as the duration of clamping of the main renal artery with no refrigeration and was tested as a continuous variable.

Apolipoprotein E induces pathogenic senescent-like myeloid cells in prostate cancer.

Tumor cells promote the recruitment of immunosuppressive neutrophils, a subset of myeloid cells driving immune suppression, tumor proliferation, and treatment resistance. Physiologically, neutrophils are known to have a short half-life. Here, we report the identification of a subset of neutrophils that have upregulated expression of cellular senescence markers and persist in the tumor microenvironment.

Neuromuscular adaptations to experimentally induced pain in the lumbar region: systematic review and meta-analysis.

Experimental pain models are frequently used to understand the influence of pain on the control of human movement. In this systematic review, we assessed the effects of experimentally induced pain in the lumbar region of healthy individuals on trunk muscle activity and spine kinematics. Databases were searched from inception up to January 31, 2022.