Primary Epithelioid Angiosarcoma of the Penis: A Case Report With a Brief Review of the Literature.

Angiosarcoma of the penis is an exceptionally rare mesenchymal tumor, with only about 30 cases documented in the literature. Because of its rarity and the often nonspecific clinical presentation, histopathological examination plays a critical role in accurate diagnosis. Angiosarcoma of the penis typically arises in the corpus cavernosum but has also been reported in the glans and urethra, often presenting with metastases.

Case report of rare presentation of schistosomiasis: delayed diagnosis of genitourinary schistosomiasis in an adolescent.

Schistosomiasis is a tropical infection endemic to developing nations that can result in chronic liver damage, renal failure, infertility, and bladder cancer. Genitourinary localization is marked by dysuria, visible hematuria, and urinary obstruction. We present the case of a 17-year-old male adolescent from a rural area of Central Africa, who arrived in Italy two years prior, exhibiting hematuria and urinary symptoms.

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.

Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.

Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.

Prevalence of fungal colonization among patients with psoriasis in difficult-to-treat areas: impact of apremilast on mycotic burden and clinical outcomes.

Introduction: Fungi, including , may be a trigger or exacerbate psoriasis, especially in difficult to treat (DTT) areas, through the activation of IL-17/23 axis.

Methods: In this study, seventy patients with DDT psoriasis were enrolled to evaluate species and/or other opportunistic fungi colonization rate at baseline (T0) and the impact of apremilast on fungal load, clinical outcome, serum cytokine levels and biochemical serum profile of patients after 16, 24 and 52 weeks of treatment.

Results: In our population, 33 (47%) patients were colonized by spp.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

The Impact of Flavonoid Supplementation on Serum Oxidative Stress Levels Measured via D-ROMs Test in the General Population: The PREVES-FLAVON Retrospective Observational Study.

Background: Oxidative stress has emerged as a key contributor to numerous NCDs (non-communicable diseases), including cardiovascular diseases, cancer, and diabetes. This study aims to explore the potential of targeted interventions to mitigate oxidative stress as part of a primary prevention strategy.

Methods: The study included 32 healthy participants (11 men, 21 women) aged 45-65 who completed both the initial and follow-up assessments of the Healthy Days Initiative, a community-based wellness program organized by the non-profit Associazione O.

Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction.

Background/purpose: Tooth development, or odontogenesis, is a complex process in which several molecular pathways play a key role. Recently, microRNAs, a class of approximately 20-nucleotide small RNA molecules that regulate gene expression, have been implicated in the odontogenesis process. This study aimed to assess the role of miRNAs in odontogenesis anomalies, specifically agenesis and impaction.

Unconventional p65/p52 NF-κB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs).

The complex heterogeneity of tumor microenvironment (TME) of triple-negative breast cancer (TNBC) presents a significant obstacle to cytotoxic immune response and successful treatment, building up one of the most hostile oncological phenotypes. Among the most abundant TME components, tumor-associated macrophages (TAMs) have pivotal pro-tumoral functions, involving discordant roles for the nuclear factor kappa-B (NF-κB) transcription factors and directing to higher levels of pathway complexity. In both resting macrophages and TAMs, we recently revealed the existence of the uncharacterized NF-κB p65/p52 dimer.

Uncommon neoplasms mistakenly diagnosed as hidradenitis suppurativa: Report of three consecutive cases.

Hidradenitis suppurativa (HS) poses diagnostic challenges due to its clinical overlap with various skin conditions and neoplasms, potentially leading to misdiagnoses. The absence of a definitive diagnostic test and infrequent use of histopathology contribute to diagnostic complexities, exacerbated by the recent increased focus on HS. Three cases initially diagnosed and treated as HS underwent clinical work-up and skin biopsies to resolve diagnostic complexities.

Overactive bladder: results from patients treated by hyaluronic acid-chondroitin sulphate therapy.

Background: Overactive bladder (OAB) is a chronic condition. This study was prompted by the need to fill the gap between medical treatment and advanced therapies allowing improvement in Quality of Life. The aim of the current study was to evaluate the association between treatment type (Ialuril; IBSA Farmaceutici, Lodi, Italy; in combination with antimuscarinic or alone after drop-out of antimuscarinic, relative to antimuscarinic alone treatment) and functional outcomes (number of micturitions, pelvic pain, urinary incontinence, nocturia, urgency).

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

The vacuolar H-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex is composed of several subunits, some of which have been linked to human disease. We and others previously reported pathogenic dominantly acting variants in ATP6V1B2, the gene encoding the V1B2 subunit, as underlying a clinically variable phenotypic spectrum including dominant deafness-onychodystrophy (DDOD) syndrome, Zimmermann-Laband syndrome (ZLS), and deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures (DOORS) syndrome.

A Clinical-Grade Partially Decellularized Matrix for Tracheal Replacement: Validation In Vitro and In Vivo in a Porcine Model.

The management of extensive tracheal resection followed by circumferential replacement remains a surgical challenge. Numerous techniques are proposed with mixed results. Partial decellularization of the trachea with the removal of the mucosal and submucosal cells is a promising method, reducing immunogenicity while preserving the biomechanical properties of the final matrix.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These "selfish" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father's age, and high apparent germline mutation rate. To date, all known selfish mutations cluster within the components of the RTK-RAS-MAPK signaling pathway, a critical modulator of testicular homeostasis.

Using Novel Multimethod Evaluation Approaches to Understand Complex Food System Interventions: Insights from a Supply Chain Intervention Intended to Improve Nutrition.

Background: A "food system" approach to improve diet quality by intervening within areas such as food supply chains is gaining prominence. However, evidence of such interventions' impact, and understanding of appropriate methods to evaluate them, is lacking.

Objectives: We present an impact evaluation of an intervention that aimed to increase consumption of nutritious foods by supporting food-producing firms in Kenya.

The Impact of the Seasonal and Geographical Distribution of Tuberculosis in Sicily: A 6-Year Retrospective Study (2018-2023).

Tuberculosis (TB) continues to be a major public health issue, with high mortality rates reported worldwide. It is worth noting that most of the hospitalizations for tuberculosis in the Sicilian region involve Italian-born individuals, underscoring the need to address this problem. Recent research on the geographic area and seasonality of infectious diseases, including tuberculosis, may aid in developing effective preventive measures.

The detection rate for prostate cancer in systematic and targeted prostate biopsy in biopsy-naive patients, according to the localization of the lesion at the mpMRI: A single-center retrospective observational study.

Objective: Evaluate the detection rates of systematic, targeted and combined cores at biopsy according to tumor positions in biopsy-naïve patients.

Material And Methods: A retrospective analysis of a single-center patient cohort (n = 501) that underwent transrectal prostate biopsy between January 2017 and December 2019 was performed. Multi-parametric MRI was executed as a prebiopsy investigation.

Early and late post-procedural complications in different orthotopic neobladder surgical approaches: A systematic review.

Bladder cancer (BCa) represents the second most common malignancy of the genitourinary tract. The major risk factors include age, gender, smoking attitude, and occupational exposure, while the exact etiopathogenesis is still uncertain. Patients diagnosed with a BCa showing invasion of the muscle layer below the submucosa must undergo radical cystectomy (RC) with urinary diversion (UD).

Anti-HIV Humoral Response Induced by Different Anti-Idiotype Antibody Formats: An In Silico and In Vivo Approach.

Despite advancements in vaccinology, there is currently no effective anti-HIV vaccine. One strategy under investigation is based on the identification of epitopes recognized by broadly neutralizing antibodies to include in vaccine preparation. Taking into account the benefits of anti-idiotype molecules and the diverse biological attributes of different antibody formats, our aim was to identify the most immunogenic antibody format.

Lymphocyte profile in peripheral blood of patients with multiple myeloma.

Multiple myeloma (MM) is a disease which remains incurable. One of the main reasons is a weakened immune system that allows MM cells to survive. Therefore, the current research is focused on the study of immune system imbalance in MM to find the most effective immunotherapy strategies.

Sensory, emotional, and appropriateness of plant- and meat-based burgers.

The plant-based meat alternative market is experiencing rapid growth. However, whether this growth extends to mainstream consumers will depend on the sensory profile, emotional profile, and situational appropriateness of these products. This study provides a sensory comparison between two plant-based burgers, one hybrid burger, and a conventional 100% ground beef burger.