Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.

Purpose: The implementation of the next-generation sequencing (NGS) in clinical practice has improved the genetic diagnosis of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). We aimed to evaluate the diagnostic outcomes of using an NGS cancer gene panel in clinical practice for patients selected based on personal and/or family history of breast, ovarian, prostate, melanoma, and other HBOC-associated cancers.

Methods: The study series included 2561 consecutive Spanish individuals referred for genetic testing, comprising 2445 cancer patients and 116 healthy individuals with family history of HBOC.

Leveraging deep-learning and unconventional data for real-time surveillance, forecasting, and early warning of respiratory pathogens outbreak.

Background: Controlling re-emerging outbreaks such as COVID-19 is a critical concern to global health. Disease forecasting solutions are extremely beneficial to public health emergency management. This work aims to design and deploy a framework for real-time surveillance, prediction, forecasting, and early warning of respiratory disease.

Blood-based prognostic scores and early dynamics under immunotherapy to select patients with metastatic solid tumors for continuing immune check-point inhibition: a prospective longitudinal study.

Introduction: Immune check-point inhibitors (ICI) were a major breakthrough in cancer care, but optimal patient selection remains elusive in most tumors.

Methods: Overall 173 adult patients with metastatic solid tumors candidates to ICI in clinical trials at our Institution were prospectively recruited. Blood samples were collected at cycle 1 (C1D1) and 2 (C2D1) and until the occurrence of progressive disease (PD).

Prognostic Expression Signature of , , and Genes in Patients with Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Receptor Pathway Inhibitors.

Unlabelled: Alterations in the tumor suppressor genes (TSGs) , , and are associated with treatment resistance, worse survival, and aggressive variants of prostate cancer (AVPC). We previously developed and validated a signature reflecting low TSG expression (TSG) that was associated with poor outcomes in patients with metastatic hormone-sensitive prostate cancer (mHSPC) treated with androgen deprivation therapy (ADT) ± docetaxel. The aim of this multicenter retrospective study was to validate the TSG signature in patients with mHSPC treated with ADT and an androgen receptor pathway inhibitor (ARPI) and to explore clinical characteristics at progression according to TSG status.

Lu-PSMA-617 versus a change of androgen receptor pathway inhibitor therapy for taxane-naive patients with progressive metastatic castration-resistant prostate cancer (PSMAfore): a phase 3, randomised, controlled trial.

Background: [Lu]Lu-PSMA-617 (Lu-PSMA-617) prolongs radiographic progression-free survival and overall survival in patients with metastatic castration-resistant prostate cancer previously treated with androgen receptor pathway inhibitor (ARPI) and taxane therapy. We aimed to investigate the efficacy of Lu-PSMA-617 in patients with taxane-naive metastatic castration-resistant prostate cancer.

Methods: In this phase 3, randomised, controlled trial conducted at 74 sites across Europe and North America, taxane-naive patients with prostate-specific membrane antigen (PSMA)-positive metastatic castration-resistant prostate cancer who had progressed once on a previous ARPI were randomly allocated (1:1) to open-label, intravenous Lu-PSMA-617 at a dosage of 7·4 GBq (200 mCi) ± 10% once every 6 weeks for six cycles, or a change of ARPI (to abiraterone or enzalutamide, administered orally on a continuous basis per product labelling).

Induction avelumab followed by chemoimmunotherapy and maintenance versus chemotherapy alone as first-line therapy in cis-ineligible metastatic urothelial carcinoma (INDUCOMAIN): a randomized phase II study.

Background: Platinum-based chemotherapy (ChT) has been the standard first-line treatment for metastatic urothelial carcinoma (mUC). The purpose of this study was to evaluate the use of induction avelumab followed by avelumab in combination with carboplatin-gemcitabine (carbo/gem) followed by avelumab maintenance. We tested the hypothesis that induction immunotherapy (IO) could enhance the response to ChT and prevent its detrimental effect on immune cells.

Decolonizing global AI governance: assessment of the state of decolonized AI governance in Sub-Saharan Africa.

Global artificial intelligence (AI) governance must prioritize equity, embrace a decolonial mindset, and provide the Global South countries the authority to spearhead solution creation. Decolonization is crucial for dismantling Western-centric cognitive frameworks and mitigating biases. Integrating a decolonial approach to AI governance involves recognizing persistent colonial repercussions, leading to biases in AI solutions and disparities in AI access based on gender, race, geography, income and societal factors.

Evaluating automatic annotation of lexicon-based models for stance detection of M-pox tweets from May 1st to Sep 5th, 2022.

Manually labeling data for supervised learning is time and energy consuming; therefore, lexicon-based models such as VADER and TextBlob are used to automatically label data. However, it is argued that automated labels do not have the accuracy required for training an efficient model. Although automated labeling is frequently used for stance detection, automated stance labels have not been properly evaluated, in the previous works.

Impact assessment of self-medication on COVID-19 prevalence in Gauteng, South Africa, using an age-structured disease transmission modelling framework.

Objective: To assess the impact of self-medication on the transmission dynamics of COVID-19 across different age groups, examine the interplay of vaccination and self-medication in disease spread, and identify the age group most prone to self-medication.

Methods: We developed an age-structured compartmentalized epidemiological model to track the early dynamics of COVID-19. Age-structured data from the Government of Gauteng, encompassing the reported cumulative number of cases and daily confirmed cases, were used to calibrate the model through a Markov Chain Monte Carlo (MCMC) framework.

Development and Independent Validation of a Prognostic Gene Expression Signature Based on RB1, PTEN, and TP53 in Metastatic Hormone-sensitive Prostate Cancer Patients.

Background: Androgen deprivation therapy (ADT) with docetaxel (D) and/or antiandrogen receptor therapies (ARTs) are the standard therapies in metastatic hormone-sensitive prostate cancer (mHSPC). Alterations in the tumor suppressor genes (TSGs) RB1, PTEN, and TP53 are associated with an aggressive evolution and treatment resistance in castration-resistant prostate cancer (CRPC).

Objective: To study the clinical implications of TSG mRNA expression in mHSPC patients.

Phase II trial of afatinib in patients with advanced urothelial carcinoma with genetic alterations in ERBB1-3 (LUX-Bladder 1).

Background: Preclinical and early clinical data suggest that the irreversible ErbB family blocker afatinib may be effective in urothelial cancers harbouring ERBB mutations.

Methods: This open-label, phase II, single-arm trial (LUX-Bladder 1, NCT02780687) assessed the efficacy and safety of second-line afatinib 40 mg/d in patients with metastatic urothelial carcinoma with ERBB1-3 alterations. The primary endpoint was 6-month progression-free survival rate (PFS6) (cohort A); other endpoints included ORR, PFS, OS, DCR and safety (cohorts A and B).

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Background And Aims: The spatial and temporal genetic heterogeneity of bladder cancer (BC) makes challenging to find specific drivers of metastatic disease, thus preventing to determine those BC patients at high risk of tumor progression. Our aim was to identify DNA mutations providing aggressive behavior to bladder tumors and analyze them in patients' cell-free DNA (cfDNA) during their follow-up after radical cystectomy (RC) in order to monitor tumor evolution.

Methods: Six BC patients who underwent RC and presented disease progression during their follow-up were included.

Phase II Trial Evaluating Olaparib Maintenance in Patients with Metastatic Castration-Resistant Prostate Cancer Responsive or Stabilized on Docetaxel Treatment: SOGUG-IMANOL Study.

The SOGUG-IMANOL trial was a phase 2, uncontrolled, Spanish multicenter study to assess the effect of maintenance treatment with olaparib on radiographic progression-free survival (PFS) in patients with metastatic castration-resistant prostate cancer (mCRPC) who achieved partial or complete response or disease stabilization on docetaxel treatment and had a documented germline/somatic mutation in any of the homologous recombination repair (HRR) genes. Patients received olaparib 300 mg orally twice daily. From the screened population ( = 134), 26 (19.

Twitter-based gender recognition using transformers.

Social media contains useful information about people and society that could help advance research in many different areas of health (e.g. by applying opinion mining, emotion/sentiment analysis and statistical analysis) such as mental health, health surveillance, socio-economic inequality and gender vulnerability.

Ibrutinib combination therapy for advanced gastrointestinal and genitourinary tumours: results from a phase 1b/2 study.

Background: Ibrutinib, a first-in-class inhibitor of Bruton's tyrosine kinase, is approved for the treatment of various B-cell malignancies and chronic graft-versus-host disease. Based on encouraging preclinical data, safety and efficacy of ibrutinib combined with companion drugs for advanced renal cell carcinoma (RCC), gastric/gastroesophageal junctional adenocarcinoma (GC), and colorectal adenocarcinoma (CRC) were evaluated.

Methods: Ibrutinib 560 mg or 840 mg once daily was administered with standard doses of everolimus for RCC, docetaxel for GC, and cetuximab for CRC.

Off-label drug use during the COVID-19 pandemic in Africa: topic modelling and sentiment analysis of ivermectin in South Africa and Nigeria as a case study.

Although rejected by the World Health Organization, the human and even veterinary formulation of ivermectin has widely been used for prevention and treatment of COVID-19. In this work we leverage Twitter to understand the reasons for the drug use from ivermectin supporters, their source of information, their emotions, their gender demographics, and location information, in Nigeria and South Africa. Topic modelling is performed on a Twitter dataset gathered using keywords 'ivermectin' and 'ivm'.

Association between the Immunophenotype of Peripheral Blood from mCRPC Patients and the Outcomes of Radium-223 Treatment.

(1) Background: Prostate cancer is the second most common cancer in men, with androgen suppression as the standard treatment. Despite initially responding to castration, most metastatic prostate cancer patients eventually experience progression. In these cases, Radium-223 is the chosen treatment.

Results from a Phase 1b/2 Study of Ibrutinib Combination Therapy in Advanced Urothelial Carcinoma.

Ibrutinib is a first-in-class Bruton's tyrosine kinase inhibitor approved for the treatment of various B-cell malignancies and chronic graft-versus-host disease. We evaluated the safety and efficacy of ibrutinib, alone or combined with standard-of-care regimens, in adults with advanced urothelial carcinoma (UC). Once-daily ibrutinib was administered orally at 840 mg (single-agent or with paclitaxel) or at 560 mg (with pembrolizumab).

Management of hospital beds and ventilators in the Gauteng province, South Africa, during the COVID-19 pandemic.

We conducted an observational retrospective study on patients hospitalized with COVID-19, during March 05, 2020, to October 28, 2021, and developed an agent-based model to evaluate effectiveness of recommended healthcare resources (hospital beds and ventilators) management strategies during the COVID-19 pandemic in Gauteng, South Africa. We measured the effectiveness of these strategies by calculating the number of deaths prevented by implementing them. We observed differ ences between the epidemic waves.