Validating the Accuracy of Parkinson's Disease Clinical Diagnosis: A UK Brain Bank Case-Control Study.

Objective: Despite diagnostic criteria refinements, Parkinson's disease (PD) clinical diagnosis still suffers from a not satisfying accuracy, with the post-mortem examination as the gold standard for diagnosis. Seminal clinicopathological series highlighted that a relevant number of patients alive-diagnosed with idiopathic PD have an alternative post-mortem diagnosis. We evaluated the diagnostic accuracy of PD comparing the in-vivo clinical diagnosis with the post-mortem diagnosis performed through the pathological examination in 2 groups.

Where does the tether break in vertebral body tethering cases? Clinical insights from revision cases after tether breakage.

Purpose: To evaluate the sites where the tether breaks in vertebral body tethering (VBT) cases.

Methods: Intraoperative evaluation of broken tethers in patients who had anterior revision.

Inclusion Criteria: anterior revision of VBT cases with explantation of the full implant and photo documentation.

Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).

This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.

Diagnosis of chronic obstructive pulmonary disease (COPD) in older patients : Consensus statement of the Working Group on Pneumology in Older Patients.

Chronic obstructive pulmonary disease (COPD) is a frequent disease from which approximately 8% of individuals aged 40 years and above suffer. The prevalence increases up to fivefold as age advances. Following an introduction including the etiology, measurement, characteristic features and classification of COPD, this article presents the consensus recommendations of the German Working Group on Pneumology in Older Patients.

Efficacy and safety of teriparatide in kidney transplant recipients with osteoporosis and low bone turnover: a real-world experience.

Introduction: Kidney transplantation is the preferred treatment for end-stage kidney disease (ESKD), enhancing survival and quality of life. However, kidney transplant recipients (KTRs) are at high risk for bone disorders, particularly low bone turnover disease, which increases fracture risk. Teriparatide, an anabolic agent, may provide a beneficial treatment option for these patients.

Rome Foundation Working Team Report on overlap in disorders of gut-brain interaction.

In patients with disorders of gut-brain interaction (DGBI), overlapping non-gastrointestinal conditions such as fibromyalgia, headaches, gynaecological and urological conditions, sleep disturbances and fatigue are common, as is overlap among DGBI in different regions of the gastrointestinal tract. These overlaps strongly influence patient management and outcome. Shared pathophysiology could explain this scenario, but details are not fully understood.

Extracorporeal membrane oxygenation in trauma: a single-center retrospective observational study.

Purpose: Globally, trauma is a leading cause of death in young adults. The use of extracorporeal membrane oxygenation (ECMO) in the trauma population remains controversial due to the limited published research. This study aimed to analyze 30-day survival of all the trauma ECMO patients at our center, with respect to injury severity score (ISS) and new injury severity score (NISS).

A bioinformatic approach to characterize the vitellogenin receptor and the low density lipoprotein receptor superfamily in the newt Cynops orientalis.

The Low Density Lipoprotein receptors (LDLRs) gene family includes 15 receptors: very low-density lipoprotein receptor (VLDLR), LDLR, Sorting-related receptor with A-type repeats (SORLA), and 12 LDL receptor-related proteins (LRPs): LRP1, LRP1B, LRP2, LRP3, LRP4, LRP5, LRP6, LRP8, LRP10, LRP11, LRP12, LRP13. Most of these are involved in the transduction of key signals during embryonic development and in the regulation of cholesterol homeostasis. In oviparous animals, the VLDL receptor is also known as VTGR since it facilitates the uptake of vitellogenin in ovary.

Implementation of intraoperative procedures to prevent anastomotic leak in low anterior rectal resections: a pilot study for a novel technique to evaluate anastomotic vascularization.

Introduction: Altered vascular microcirculation is recognized as a risk factor for anastomotic leakage (AL) in colorectal surgery. However, few studies evaluated its impact on AL using different devices, with heterogeneous results. The present study reported the initial experience measuring gut microcirculatory density and flow with the aid of incidence dark-field (IDF) videomicroscopy (Cytocam, Braedius, Amsterdam, The Netherlands) comparing its operative outcome using a propensity score matching (PSM) model based on age, gender, and Charlson Comorbidity Index (CCI).

Estimating future heat-related and cold-related mortality under climate change, demographic and adaptation scenarios in 854 European cities.

Previous health impact assessments of temperature-related mortality in Europe indicated that the mortality burden attributable to cold is much larger than for heat. Questions remain as to whether climate change can result in a net decrease in temperature-related mortality. In this study, we estimated how climate change could affect future heat-related and cold-related mortality in 854 European urban areas, under several climate, demographic and adaptation scenarios.

Comparison of aesthetic perception and acceptability of silver diamine fluoride staining between Spanish and Italian parents.

Assessing parental aesthetic acceptability of Silver Diamine Fluoride (SDF) staining is crucial for its potential implementation in paediatric dentistry in different regions. This study aimed to compare aesthetic perceptions and acceptance of SDF staining between Spanish and Italian parents, and assess weather acceptability is influenced by location, child's cooperation, or demographic background. A cross-sectional comparative study was conducted among Spanish and Italian parents at three university dental clinics, using a validated Italian version of the questionnaire "Parental perceptions of Silver Diamine Fluoride Dental Color Changes".

Exogenous LEA proteins expression enhances cold tolerance in mammalian cells by reducing oxidative stress.

Understanding the molecular mechanisms that confer cold resistance in mammalian cells might be relevant for advancing medical applications. This study aimed to exploit the protective function of Late Embryogenesis Abundant (LEA) proteins, known to provide resistance to low temperatures in extremophiles and plants, by their exogenous expression in mammalian cells, and compare their effects with the well characterized antioxidant, vitamin E.Remarkably, the expression of LEA proteins in mammalian cells exerted cold-protective effect similar to Vitamin E.

Next generation sequencing of multiple SARS-CoV-2 infections in the Omicron Era.

Since the emergence of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the need for an effective vaccine has appeared crucial for stimulating immune system responses to produce humoral/cellular immunity and activate immunological memory. It has been demonstrated that SARS-CoV-2 variants escape neutralizing immunity elicited by previous infection and/or vaccination, leading to new infection waves and cases of reinfection. The study aims to gain into cases of reinfections, particularly infections and/or vaccination-induced protection.

Dual-task-related gait patterns as possible marker of precocious and subclinical cognitive alterations in Parkinson disease.

Subtle gait and cognitive dysfunction are common in Parkinson's disease (PD), even before most evident clinical manifestations. Such alterations can be assumed as hypothetical phenotypical and prognostic/progression markers. To compare spatiotemporal gait parameters in PD patients with three cognitive status: cognitively intact (PD-noCI), with subjective cognitive impairment (PD-SCI) and with mild cognitive impairment (PD-MCI) in order to detect subclinical gait differences.

Phosphorylation-dependent WRN-RPA interaction promotes recovery of stalled forks at secondary DNA structure.

The WRN protein is vital for managing perturbed replication forks. Replication Protein A strongly enhances WRN helicase activity in specific in vitro assays. However, the in vivo significance of RPA binding to WRN has largely remained unexplored.

Patterns, timing and predictors of recurrence following pancreaticoduodenectomy for pancreatic ductal adenocarcinoma: an international multicentre retrospective cohort study.

Background: Most patients undergoing pancreaticoduodenectomy (PD) for pancreatic ductal adenocarcinoma (PDAC) develop recurrence. No previous studies have investigated predictors of local-only recurrence following PD for PDAC. Our study aimed to determine timing, pattern and predictors of any-site and local-only recurrence following PD for PDAC.

A role for mitochondria-ER crosstalk in amyotrophic lateral sclerosis 8 pathogenesis.

Protein aggregates in motoneurons, a pathological hallmark of amyotrophic lateral sclerosis, have been suggested to play a key pathogenetic role. ALS8, characterized by ER-associated inclusions, is caused by a heterozygous mutation in VAPB, which acts at multiple membrane contact sites between the ER and almost all other organelles. The link between protein aggregation and cellular dysfunction is unclear.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and -related overgrowth spectrum (PROS). However, it can also present as isolated (ILO).

Safety of interleukin inhibitors in patients with plaque psoriasis and history of neoplasms: a multicenter retrospective study - IL PSO (Italian landscape psoriasis).

Interleukin (IL) inhibitors are increasingly used in the management of moderate-to-severe plaque psoriasis. However, their use in patients with a history of cancer is debated. We conducted a multicenter retrospective study across nine Italian Dermatology Units to assess the real-world effectiveness and safety of IL inhibitors (IL-23, IL-17, IL-12/23) in 136 oncological patients with moderate-to-severe plaque psoriasis.

The Autonomic Nervous System and Inflammation in Chronic Kidney Disease.

The autonomic nervous system plays a crucial role in regulating physiological processes and maintaining homeostasis through its two branches: the sympathetic nervous system (SNS) and the parasympathetic nervous system. Dysregulation of the autonomic system, characterized by increased sympathetic activity and reduced parasympathetic tone, is a common feature in chronic kidney disease (CKD) and cardiovascular disease. This imbalance contributes to a pro-inflammatory state, exacerbating disease progression and increasing the risk for cardiovascular events.

Prospective Validation of CAR-HEMATOTOX and a simplified version predict Survival in Patients with Large B-Cell Lymphoma treated with anti-CD19 CAR T-cells: data from CART-SIE study.

Background: Anti-CD19 CAR T-cells have revolutionized outcomes in relapsed/refractory large B-cell lymphomas. Long-term follow-up underscored the role of hematological toxicity in non-relapse mortality, largely driven by infections, leading to the development of the CAR-HEMATOTOX (HT) score for predicting neutropenia. The European scientific community (EHA/EBMT) later reached a consensus, defining a new entity: immune effector cell-associated hematotoxicity (ICAHT).

Additively Manufactured Subperiosteal Implants for the Rehabilitations of Lateral Incisors Agenesis - a case series.

Background: Tooth agenesis, particularly the absence of upper lateral incisors, presents substantial challenges for clinicians due to the associated bone atrophy, which limits the use of traditional implant solutions. Current options, such as endosseous implants combined with guided bone regeneration (GBR), often fail due to insufficient osseointegration in atrophic bone. This study aims to evaluate the effectiveness of custom-made, additively manufactured subperiosteal implants in addressing these challenges METHODS: This retrospective study assessed 16 custom-made subperiosteal implants used in 12 patients (10 females, 2 males; mean age 25 ± 2.