Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.

Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022.

Anthropometric estimates can predict satisfaction with breast in a population of asymptomatic women.

Background: Several authors hypothesized that normative values of breast related quality of life in asymptomatic populations can be helpful to better understand changes induced by surgery. Breast related quality of life can be associated to breast anthropometry. This study was designed to explore this hypothesis, find relevant correlations and, using machine learning techniques, predict values of satisfaction with breast from easy body measurements.

Correction: Antioxidant properties of bee propolis and an important component, galangin, described by X-ray crystal structure, DFT-D and hydrodynamic voltammetry.

[This corrects the article DOI: 10.1371/journal.pone.

Predictors of mastectomy in breast cancer patients with complete remission of primary tumor after neoadjuvant therapy: A retrospective study.

Introduction: Neoadjuvant therapy (NAT) should increase the rate of breast-conserving surgery (BCS) in non-metastatic breast cancer (BC) patients, especially in those achieving tumor shrinkage. Still, the conversion from a pre-planned mastectomy to BCS in patients responding to NAT is not a widespread standard. We aimed to identify factors influencing surgical choices in this setting.

Antioxidant Scavenging of the Superoxide Radical by Yerba Mate ( and Black Tea Plus Caffeic and Chlorogenic Acids, as Shown via DFT and Hydrodynamic Voltammetry.

We describe the antioxidant capability of scavenging the superoxide radical of several tea and yerba mate samples using rotating ring-disk electrochemistry (RRDE). We directly measured superoxide concentrations and detected their decrease upon the addition of an antioxidant to the electrochemical cell. We studied two varieties of yerba mate, two varieties of black tea from Bangladesh, a sample of Pu-erh tea from China, and two components, caffeic acid and chlorogenic acid.

Parp-inhibitors in the therapeutic landscape of breast cancer patients with BRCA1 and BRCA2 pathogenic germline variants: An Italian consensus paper and critical review.

The introduction of PARP inhibitors has revolutionized the management and treatment of patients with pathogenic germline variants of BRCA1/2 who have developed breast cancer. The implementation of PARP inhibitors in clinical settings can be challenging due to their overlapping indications with other drugs, including both recently approved medications and those with proven efficacy. This study utilized the Delphi method to present the first Italian consensus regarding genetic testing, the use of PARP inhibitors in both early and metastatic settings, and strategies for managing the potential toxicity of these novel drugs.

BRCA Testing for Patients Treated in Italy: A National Survey of Breast Centers Associated with Senonetwork.

Background: Breast units (BUs) provide breast cancer (BC) care, including prevention, treatment, and genetic assessment. Genetic research has highlighted BRCA1/2 mutations as key hereditary BC risk factors. BRCA testing is crucial for personalized treatment and prevention strategies.

Molecular Interactions and Mechanisms of COVID-19 Inhibition 2.0.

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Breakthrough Acute HIV Infections among Pre-Exposure Prophylaxis Users with High Adherence: A Narrative Review.

Pre-exposure prophylaxis (PrEP) is a pivotal intervention among HIV prevention strategies. We aimed to narratively revise the topic of HIV acute infection in the setting of PrEP exposure with a focus on diagnostic options, clinical features, and future PrEP perspectives, with a particular focus on users with high adherence to PrEP. We searched the main databases (PubMed, Embase, and Scopus) with the keywords "PrEP" or "Pre-Exposure Prophylaxis" and "HIV" or "PLWH" and "breakthrough" or "acute infection" or "primary infection".

Easy Anthropometric Measurements Are Representative of Baseline Values of Breast Q Values in Asymptomatic Women.

Background: Measurements of breast morphology are a determinant of the assessment of any surgical procedure, either reconstructive or cosmetic. This study aims to investigate the association between easy anthropometric measurements and values of quality of life assessed in a sample of asymptomatic women.

Methodology: Healthy asymptomatic women were admitted for this study.

Examining the Antioxidant and Superoxide Radical Scavenging Activity of Anise, ( L. Seeds), Esculetin, and 4-Methyl-Esculetin Using X-ray Diffraction, Hydrodynamic Voltammetry and DFT Methods.

L., or anise, is a plant that, besides its nutritional value, has been used in traditional medical practices and described in many cultures in the Mediterranean region. A possible reason for anise's therapeutic value is that it contains coumarins, which are known to have many biomedical and antioxidant properties.

Is routine axillary lymph node dissection needed to tailor systemic treatments for breast cancer patients in the era of molecular oncology? A position paper of the Italian National Association of Breast Surgeons (ANISC).

Background: De-escalation of axillary surgery in breast cancer (BC) management began when sentinel lymph node biopsy (SLNB) replaced axillary lymph node dissection (ALND) as standard of care in patients with node-negative BC. The second step consolidated ALND omission in selected subgroups of BC patients with up to two macrometastases and recognized BC molecular and genomic implication in predicting prognosis and planning adjuvant treatment. Outcomes from the recent RxPONDER and monarchE trials have come to challenge the previous cut-off of two SLN in order to inform decisions on systemic therapies for hormone receptor-positive (HR+), human epidermal growth factor receptor type-2 (HER2) negative BC, as the criteria included a cut-off of respectively three and four SLNs.

Oncoplastic and reconstructive surgery in SENONETWORK Italian breast centers: lights and shadows.

• Despite the significance of oncoplastic procedure, an italian database is lacking. • Senonetwork established a multidisciplinary survey to assess their safety and efficacy. • Reconstructive outcomes were positive across low and high-volume centers.

Ruthenium(II)-Arene Curcuminoid Complexes as Photosensitizer Agents for Antineoplastic and Antimicrobial Photodynamic Therapy: In Vitro and In Vivo Insights.

Photodynamic therapy (PDT) is an anticancer/antibacterial strategy in which photosensitizers (PSs), light, and molecular oxygen generate reactive oxygen species and induce cell death. PDT presents greater selectivity towards tumor cells than conventional chemotherapy; however, PSs have limitations that have prompted the search for new molecules featuring more favorable chemical-physical characteristics. Curcumin and its derivatives have been used in PDT.

Azadiradione, a Component of Neem Oil, Behaves as a Superoxide Dismutase Mimic When Scavenging the Superoxide Radical, as Shown Using DFT and Hydrodynamic Voltammetry.

The neem tree, , belongs to the Meliaceae family, and its use in the treatment of medical disorders from ancient times to the present in the traditional medical practices of Asia, Africa and the Middle East is well-documented. Neem oil, extracted from the seeds of the fruit, is widely used, with promising medicinal benefits. Azadiradione, a principal antioxidant component of the seeds of , is known to reduce oxidative stress and has anti-inflammatory effects.

Natural Language Processing to Extract Meaningful Information from a Corpus of Written Knowledge in Breast Cancer: Transforming Books into Data.

Introduction: Books and papers are the most relevant source of theoretical knowledge for medical education. New technologies of artificial intelligence can be designed to assist in selected educational tasks, such as reading a corpus made up of multiple documents and extracting relevant information in a quantitative way.

Methods: Thirty experts were selected transparently using an online public call on the website of the sponsor organization and on its social media.

One-Stage Implant-Based Breast Reconstruction With Polyurethane-Coated Device: Standardized Assessment of Outcomes.

Background: Nipple-sparing mastectomies (NSMs) and implant-based breast reconstructions have evolved from 2-stage reconstructions with tissue expansion and implant exchange to direct-to-implant procedures. In this study, we tested safety and efficacy of polyurethane-based implants according to standard assessment tools.

Objectives: This study aimed to test safety and feasibility of polyurethane-coated implants with standardized assessment employing internationally acknowledged evaluation criteria.

Thoraco-dorsal artery perforator flap for totally autologous primary breast reconstruction. Assessment of feasibility with standard reporting scales.

This study reports on feasibility and applicability of totally autologous primary breast reconstructions based on TDAP flaps using a standard set of internationally approved reporting scales. We reviewed 15 cases in patients with a good donor area in the back not suitable for implant or free flaps reconstructions. Complications according to Clavien Dindo were: 1 Grade 1 (seroma in the back).

Superoxide Scavenging and Anti-Inflammatory Caspase-1 Inhibition Study Using Cyclic Voltammetry and Computational Docking Techniques.

The relationship between oxidative stress and inflammation is well known, and exogenous antioxidants, primarily phytochemical natural products, may assist the body's endogenous defense systems in preventing diseases due to excessive inflammation. In this study, we evaluated the antioxidant properties of ethnomedicines from Peru that exhibit anti-inflammatory activity by measuring the superoxide scavenging activity of ethanol extracts of aerial parts using hydrodynamic voltammetry at a rotating ring-disk electrode (RRDE). The chemical compositions of these extracts are known and the interactions of three methide-quinone compounds found in with caspase-1 were analyzed using computational docking studies.

Echolocation clicks of free-ranging Indo-Pacific finless porpoises (Neophocaena phocaenoides) in Hainan waters.

The echolocation clicks of free-ranging Indo-Pacific finless porpoises (IPFPs, Neophocaena phocaenoides) have been rarely studied in the wild. This paper aims at describing the echolocation-click characteristics of IPFPs and examining whether IPFPs adapt their sonar system to the habitats in Hainan waters, China. The echolocation clicks were recorded using a 13 elements star-shaped array of hydrophones.

Antioxidant Properties of Thymoquinone, Thymohydroquinone and Black Cumin ( L.) Seed Oil: Scavenging of Superoxide Radical Studied Using Cyclic Voltammetry, DFT and Single Crystal X-ray Diffraction.

Black cumin seeds and seed oil have long been used in traditional foods and medicine in South Asian, Middle Eastern and Mediterranean countries and are valuable flavor ingredients. An important ingredient of black cumin is the small molecule thymoquinone (TQ), which manifests low toxicity and potential therapeutic activity against a wide number of diseases including diabetes, cancer and neurodegenerative disorders. In this study, the antioxidant activities of black seed oil, TQ and a related molecule found in black cumin, thymohydroquinone (THQ), were measured using a direct electrochemical method to experimentally evaluate their superoxide scavenging action.

Scavenging of Superoxide in Aprotic Solvents of Four Isoflavones That Mimic Superoxide Dismutase.

Isoflavones are plant-derived natural products commonly found in legumes that show a large spectrum of biomedical activities. A common antidiabetic remedy in traditional Chinese medicine, L. contains the isoflavone formononetin (FMNT).

Aromatic Polyphenol π-π Interactions with Superoxide Radicals Contribute to Radical Scavenging and Can Make Polyphenols Mimic Superoxide Dismutase Activity.

Polyphenols are valuable natural antioxidants present in our diet that likely mitigate aging effects, neurodegenerative conditions, and other diseases. However, because of their poor absorption in the gut and consequent low concentration in biological fluids (µM range), reservations about polyphenol antioxidant efficiency have been raised. In this review, it is shown that after scavenging superoxide radicals, coumarin, chalcone, and flavonoid polyphenols can reform themselves, becoming ready for additional cycles of scavenging, similar to the catalytic cycle in superoxide dismutase (SOD) action.