A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.

Background: The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%-10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL).

Method: In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy.

Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study).

Background: Rimegepant, a novel oral calcitonin gene-related peptide receptor antagonist, has been recently approved for the acute migraine treatment. While its efficacy was confirmed in randomized clinical trials, no data is available regarding real-life effectiveness and tolerability. GAINER, a prospective, multicentric study, aimed to evaluate rimegepant effectiveness and tolerability in the real-world setting.

Baricitinib for the treatment of severe alopecia areata: results from a 52-week multicenter retrospective real-world study.

Baricitinib, a JAK 1/2 inhibitor, is approved for treating severe alopecia areata (AA). This study aimed to evaluate the long-term effectiveness and safety of baricitinib in a real-world setting over 52 weeks. This multicenter retrospective study included 96 adult patients diagnosed with severe AA from 11 Italian Dermatology Units.

The Milan Score Predicts Objective Gastroesophageal Reflux Disease in Patients With Type 2 Esophagogastric Junction.

Introduction: High-resolution manometry (HRM) allows assessment of esophagogastric junction (EGJ) disruption. While type 3 EGJ predicts definitive gastroesophageal reflux disease (GERD), type 2 EGJ is less clearly implicated in GERD pathogenesis. This study aimed to characterize physiologic findings in type 2 EGJ to determine if the HRM-based Milan Score can define GERD within type 2 EGJ.

Amitriptyline for the treatment of vulvodynia in patients with vulvar lichen sclerosus: a case series of 20 patients.

Vulvar Lichen Sclerosus (VLS) is a chronic autoimmune disease that often leads to vulvodynia, a debilitating chronic pain condition in the vulvar region. Treating vulvodynia in the context of VLS presents a significant therapeutic challenge due to the lack of standardized protocols. This article presents a case series of 20 women treated with amitriptyline for vulvodynia secondary to VLS, accompanied by an extended review of the literature.

Ten-year update of HOBOE phase III trial comparing triptorelin plus either tamoxifen or letrozole or zoledronic acid + letrozole in premenopausal hormone receptor-positive early breast cancer patients.

Background: The Hormonal Bone Effects (HOBOE) study tested whether adjuvant triptorelin plus either letrozole (L) or zoledronic acid (Z) plus L (ZL) was more effective than tamoxifen (T) in premenopausal patients with hormone receptor-positive (HR+) early breast cancer (BC). Here we report the long-term follow-up analysis.

Patients And Methods: HOBOE (ClinicalTrials.

MetaRehabVerse: The Great Opportunity to Put the Person's Functioning and Participation at the Center of Healthcare.

Background And Objective: The metaverse refers to a digital realm accessible via internet connections using virtual reality and augmented reality glasses for promoting a new era of social rehabilitation. It represents the next-generation mobile computing platform expected to see widespread utilization in the future. In the context of rehabilitation, the metaverse is envisioned as a novel approach to enhance the treatment of human functioning exploiting the "synchronized brains" potential exacerbated by social interactions in virtual scenarios.

Investigating the causal pathways among psychopathological variables, cognitive impairment, and real-life functioning in people with schizophrenia.

The present study aimed to investigate the causal relationships among cognitive impairment, psychopathology, and real-life functioning in a large sample of people with schizophrenia, using a data-driven causal discovery procedure based on partial ancestral graphs (PAGs). This method may provide additional insights for the identification of potential therapeutic targets to promote recovery in people with chronic schizophrenia. State-of-the-art instruments were used to assess the study variables.

Professional liability in dentistry: structure and causes of judicial litigation.

The great advances in diagnostic and therapeutic skills of most sectors of medicine and dentistry have led to an increasingly greater demand from patients for accuracy, attention and diligence by healthcare workers. Dentistry is one of the branches most frequently involved in claims for damages from malpractice, especially in those sectors that are particularly costly and of significant aesthetic value. Aim of the study was to compare data of malpractice claims with those of other Authors to identify similarities and/or differences in the results and to increase epidemiological knowledge in the area of dental malpractice.

Positive Answer on the Existence of Correlations between Positive Earthquake Magnitude Differences.

The identification of patterns in space, time, and magnitude, which could potentially encode the subsequent earthquake magnitude, represents a significant challenge in earthquake forecasting. A pivotal aspect of this endeavor involves the search for correlations between earthquake magnitudes, a task greatly hindered by the incompleteness of instrumental catalogs. A novel strategy to address this challenge is provided by the groundbreaking observation by Van der Elst (Journal of Geophysical Research: Solid Earth, 2021) that positive magnitude differences, under specific conditions, remain unaffected by catalog incompleteness.

Why we need a representative organization of academic PRM in Europe, and why we need it now.

The growing relevance of rehabilitation in healthcare to address increasing patient needs necessitates robust Physical and Rehabilitation Medicine (PRM) integration into medical education and practice. Academic PRM, rooted in medical faculties, is vital for developing the medical speciality as an academic discipline across Europe, where it faces challenges, including limited representation in medical schools and competition for resources with established disciplines. This commentary advocates establishing a representative organization for academic PRM in Europe.

RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy.

Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.

Lower pain, less itching, and faster healing after ultrasound scalpel-assisted hemorrhoidectomy using an intimate cleaner containing chlorhexidine, acid hyaluronic acid, and natural anti-inflammatories: a multicenter observational case-control study.

Purpose: Postoperative pain is a major concern for patients undergoing ultrasound scalpel-assisted hemorrhoidectomy, potentially exacerbated by delayed wound healing. This study aimed to evaluate the impact of an intimate cleansing gel containing chlorhexidine, hyaluronic acid, and other anti-inflammatory agents (Antroclean Fisioderm) on postoperative pain, itching, and wound healing in patients who had undergone this procedure.

Methods: This multicenter observational case-control study involved a cohort of consecutive adult patients who underwent hemorrhoidectomy using an ultrasound device.

Visual deprivation and axial myopia: Considerations on long-term ocular development.

Introduction: Severe visual deprivation during infancy can lead to long-term changes in ocular development, including significant differences in axial length (AL) between eyes. This case report presents three adult patients with monocular infantile visual deprivation who developed substantial AL interocular differences. The aim is to explore the impact of early visual deprivation on AL and its potential implications for myopia progression.

Prevalence and impact of multidrug resistance in a cohort of patients admitted to emergency department for urinary tract-infections: The UTILY study, a prospective multicentre study.

Background And Aim: The aim of the present study was to evaluate the prevalence and to identify the independent predictors of multi-drug resistance among a cohort of patients admitted to emergency department for urinary tract infections (UTI), and to assess the impact of antimicrobial resistance on the clinical outcomes.

Methods: We conducted a prospective multicentre study enrolling all adult patients admitted to one of the eight emergency departments participating in the study with a microbiologically confirmed diagnosis of UTI from February 2023 to July 2024. The primary outcome evaluated was 30-day mortality; secondary outcomes included 7-day mortality and clinical response.

More Than the Sum of Its Parts: Disrupted Core Periphery of Multiplex Brain Networks in Multiple Sclerosis.

Disruptions to brain networks, measured using structural (sMRI), diffusion (dMRI), or functional (fMRI) MRI, have been shown in people with multiple sclerosis (PwMS), highlighting the relevance of regions in the core of the connectome but yielding mixed results depending on the studied connectivity domain. Using a multilayer network approach, we integrated these three modalities to portray an enriched representation of the brain's core-periphery organization and explore its alterations in PwMS. In this retrospective cross-sectional study, we selected PwMS and healthy controls with complete multimodal brain MRI acquisitions from 13 European centers within the MAGNIMS network.

Pleomorphic dermal sarcoma of the scalp with intracranial space involvement: management of a rare entity. Illustrative case.

Background: Exophytic tumors of the calvaria (ETCs) remain a challenging pathology because of their complex management. The authors discuss the case of a woman with a large exophytic mass of the right frontotemporal region and underline their decision-making process on the management of this unique case and possible similar ones.

Observations: Neuroradiological findings showed a calvarial tumor with both epicranial and intracranial extension involving the frontotemporal bone with a mixed component (lytic and sclerotic) and dural infiltration with a pseudonodular pattern.

Atypical Regional Accent in Autistic Children: A Perception Study.

Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy.

Alpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports.

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced plasma levels of alpha-1 antitrypsin (AAT), often leading to pulmonary diseases primarily emphysema and/or chronic obstructive pulmonary disease (COPD), but also bronchiectasis, bronchial asthma, or other less common disorders. Early diagnosis enables AAT augmentation therapy, which has proven to be effective in slowing down functional decline and improving survival rates. This article presents two cases of pregnant women with rare allelic variants of AATD who received AAT augmentation therapy, exploring the limited evidence on its safety during pregnancy and the potential role of decreased serum AAT levels in pregnancy-related complications.