The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.

Nephrogenic diabetes insipidus (NDI) results from the kidneys' inability to concentrate urine. We describe a 6-month-old male with a history of poor weight gain who presented with an incidental finding of hypernatremia (155 mEq/L) during an episode of acute gastroenteritis. The arginine vasopressin (AVP) test, along with molecular analysis revealing the M272R mutation in the AVP receptor 2 (AVPR2) gene, confirmed the diagnosis of congenital NDI.

Investigating Eating Symptoms in the LGBTQIA+ Population: Do Discrimination and Adverse Conditions Matter?

Background: Eating disorders (EDs) have traditionally been studied among heterosexual cisgender women, but recent research highlights a higher prevalence in LGBTQIA+ individuals.

Aims: This study aims (1) to investigate the association between different groups based on gender identity and sexual orientation (GISO) and experiencing eating symptoms, and (2) to explore the extent to which self-perceived discrimination and adverse conditions explain this association.

Methods: We administered an online survey to assess eating symptoms using the Eating Disorder Examination Questionnaire (EDE-Q 6.

Bacteremic nosocomial pneumonia caused by Gram-negative bacilli: results from the nationwide ALARICO study in Italy.

Purpose: To describe the clinical characteristics and outcomes of patients with nosocomial pneumonia (NP) caused by carbapenem-resistant Gram-negative bacilli (CR-GNB) and to compare them to patients with NP caused by carbapenem-susceptible (CS)-GNB.

Methods: Prospective observational multicenter study including patients with bacteremic NP caused by GNB from the ALARICO Network (June 2018-January 2020). The primary outcome measure was 30-day mortality.

Ovarian reserve, metabolic and neuroendocrine profiles of cadets from Air Force Academy: a pilot study.

Background: Intensive physical activity and rigid dietary regimes can act as modifiers of neuroendocrine axes in women, inducing hormonal disorders and related menstrual irregularities such as functional hypothalamic amenorrhea (FHA). It would be important to evaluate if such disturbances may worsen female fertility. The aim of this study was to evaluate ovarian reserve markers and neuroendocrine axis in young military academy female cadets with years of training and occurrence of FHA.

The Use of Botulinum Toxin Type A and the Occurrence of Anaphylaxis: A Descriptive Analysis of Data from the European Spontaneous Reporting System.

Background: Botulinum toxin type A (BTA) is a protein produced by Clostridium botulinum bacteria. It is the most widely used among botulinum toxin types, and it is recommended for the treatment of many clinical conditions, including muscle hyperactivity syndromes and for esthetic indications too. BTA is generally considered safe, and the most reported adverse events (AEs) include eyelids ptosis, immunogenicity, neuromuscular disorders and hypersensitivity reactions.

Case report: Tracing in parallel the salivary and gut microbiota profiles to assist Larotrectinib anticancer treatment for fusion-positive glioblastoma.

Oncotherapy can shape intestinal microbiota, which, in turn, may influence therapy effectiveness. Furthermore, microbiome signatures during treatments can be leveraged for the development of personalised therapeutic protocols in cancer treatment based on the identification of microbiota profiles as prognostic tools. Here, for the first time, the trajectory of gut and salivary microbiota in a patient treated with Larotrectinib, a targeted therapy approved for diagnosed glioblastoma multiforme neurotrophic tyrosine receptor kinase () gene fusion-positive, has been accurately investigated.

Polystyrene microplastic exposure modulates gut microbiota and gut-liver axis in gilthead seabream (Sparus aurata).

Microplastics (MPs) are a threat of growing concern for living organisms as they exist in all ecosystems. The bidirectional communication between the gut, its microbiota, and the liver, has been conceptualized as gut-liver axis and may be influenced by environmental factors. MPs can cause intestinal and hepatic injuries, but there is still limited research exploring their impact on gut-liver axis.

Controlling nutritional status score and geriatric nutritional risk index as a predictor of mortality and hospitalization risk in hospitalized older adults.

Background: The COntrolling NUTritional Status (CONUT) score and the Global Nutrition Risk Index (GNRI) are screening tools for assessing the risk of malnutrition based on widely available biochemical parameters. The primary objective of this study was to investigate the predictive value of CONUT and GNRI score on 36 months mortality and hospitalization risk in hospitalized older patients.

Methods: Data of 382 patients (196 women, mean age 80.

Clinical management of indeterminate thyroid nodules needs to be revisited. New evidence for a personalized approach to the problem.

Purpose: Thyroid nodules diagnosed by fine needle aspiration cytology (FNAC) as TIR3A or Class III subgroup "other types of atypia" (indeterminate thyroid nodules - ITNs), are the only ones without a unique clinical action indicated for management. This leads to multiple FNAC repetitions (FNAC-reps) and lifelong follow-up, with huge consumption of time and resources. The aims of the study were to inquire the usefulness of repeating FNAC in ITNs and perform an evaluation of a long-term follow-up of a large cohort of ITNs.

Piperacillin/tazobactam vs. cefepime or carbapenems for the treatment of bloodstream infections due to bacteria producing chromosomal AmpC beta-lactamase: a systematic review and meta-analysis.

Background: The best treatment for bloodstream infections (BSI) due to chromosomal AmpC (c-AmpC) producing Enterobacterales is not clearly defined.

Objectives: To describe the clinical and microbiological outcomes of patients treated with piperacillin/tazobactam, cefepime or carbapenems for bloodstream infections (BSIs) due to c-AmpC beta-lactamase-producing strains.

Data Sources: We searched MEDLINE, the Cochrane Library and EMBASE to screen original reports published up to January 2024.

Glycosaminoglycan Adenogenesis Factors: Immunohistochemical Expression in Endometriosis Tissues Compared with the Endometrium.

Endometriosis is a chronic inflammatory pathology estrogen-dependent. It is a condition affecting 5%-10% of women of reproductive age worldwide. Recent evidence indicating an embryological origin of endometriosis has provided new insights into its pathogenesis and potential therapeutic approaches.

Very rare isolated colonic inflammatory cap polyps in a patient with known long-standing ulcerative colitis.

Inflammatory cap polyps (ICP) are an extremely rare finding during digestive endoscopy, typically presenting as multiple polyps in the form of cap polyposis. Among the few reported cases of ICP, some have been associated with multiple polyposis forms, showing a clinical presentation similar to inflammatory bowel disease (IBD), which was subsequently ruled out following further diagnostic evaluation. In this report, we present an exceptionally rare case of two isolated ICPs (not in the form of cap polyposis) in a patient with a long-standing, well-established histological diagnosis of IBD located in atypical sites (specifically, the descending and transverse colon), with a characteristic endoscopic appearance.

The Mediating Role of Emotion Regulation and Basic Psychological Needs: Association Between Childhood Trauma and Young Adults' Psychological Functioning from a Self-Determination Theory Perspective.

Numerous studies have shown the detrimental effects of childhood trauma on individuals' psychological functioning. This study examined the relation from childhood traumatic experiences to dissociation, life satisfaction, and attitude toward seeking psychological help while additionally shedding light on the possible mediating role of emotion regulation and basic psychological needs based on the framework of Self-Determination Theory (SDT). Using a cross-sectional design, data were collected from 489 Italian young adults (age = 23.

Smac/DIABLO protein acts as an independent prognostic factor in oral squamous cell carcinoma.

Oral squamous cell carcinoma (OSCC) poses significant health risks with increasing incidence and mortality rates. In this context, there is an urgent need to explore novel biomarkers to enhance therapeutic strategies and improve survival. Understanding apoptotic evasion in cancer pathogenesis, this pioneering study aims to investigate the correlation between a pro-apoptotic protein Smac/DIABLO and patient prognosis within the OSCC cohort.

The need for inhaled phosphodiesterase inhibitors in chronic obstructive pulmonary disease.

Introduction: The therapeutic implications of phosphodiesterase (PDE) inhibitors have attracted interest because PDEs are regarded as an intracellular target to be exploited for therapeutic advancements in the treatment of COPD. At present, the only approved approach for the treatment of COPD with PDE inhibitors is the use of an oral PDE4 inhibitor. However, this treatment is not widely employed, primarily due to the narrow therapeutic index associated with oral PDE4 inhibitors, which significantly limits the tolerable dose.

Flexible 3D nanofiber-based SERS biosensor for detection of miRNA-223-3p in early Laryngeal Cancer diagnosis.

MicroRNAs (miRNAs) are small non-coding RNAs (18-22 nucleotides) that regulate gene expression and are associated with various diseases, including Laryngeal Cancer (LCa), which has a high mortality rate due to late diagnosis. Traditional methods for miRNA detection present several drawbacks (time-consuming steps, high cost and high false positive rate). Early-stage diagnosis and selective detection of miRNAs remain challenging.

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

Background: The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders.