Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to identify the germline causative alteration to provide intensified surveillance to those at risk and allow early diagnosis and cancer prevention.

Biochemical, photosynthetic and metabolomics insights of single and combined effects of salinity, heat, cold and drought in Arabidopsis.

Ensuring food security is one of the main challenges related to a growing global population under climate change conditions. The increasing soil salinity levels, drought, heatwaves, and late chilling severely threaten crops and often co-occur in field conditions. This work aims to provide deeper insight into the impact of single vs.

RANK/RANKL Signaling Pathway in Breast Development and Cancer.

RANK pathway has attracted increasing interest as a promising target in breast cancer, given the availability of denosumab, an anti-RANKL drug. RANK signaling mediates progesterone-driven regulation of mammary gland development and favors breast cancer initiation by controlling mammary cell proliferation and stem cell fate. RANK activation promotes luminal mammary epithelial cell senescence, acting as an initial barrier to tumorigenesis but ultimately facilitating tumor progression and metastasis.

Generation Z in Plastic Surgery: Challenges, Solutions and New Horizons - A European and transatlantic overview.

Introduction:   The entrance of Generation Z (born 1997-2012) into professional life, including the practice of medicine, marks a transformational shift in priorities and values. This generation, shaped by digital immersion and a strong focus on work-life balance, is redefining the landscape of Plastic Surgery. Their preferences for inclusivity, innovation, and structured working hours challenge traditional models of mentorship, patient care, and surgical training.

An Exploratory Study about Factors and Outcomes Associated with the Experience of Coercive Measures in Mental Health Settings.

Coercive measures are commonly used in mental health settings despite their negative effects. The subjective experience of coercion varies widely, and its short- and long-term health impacts are not well understood. This study aimed to analyze the association between different types of coercive measures experienced during psychiatric hospitalization, the subjective experience of coercion, and both short- and long-term health outcomes.

Does motivation lead to academic success, or conversely? Reciprocal relations between autonomous and controlled motivation, and mathematics achievement.

Background: While it's clear that autonomous motivation significantly boosts academic success, there are conflicting findings regarding the opposite relation. Besides, the reciprocal relations among controlled motivation and achievement present mixed results. Adequately distinguishing between variations among individuals and within individuals results key to acknowledge such relations.

Successful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.

Introduction: Mutations in EMD are related to an increased risk of ventricular arrhythmias and sudden cardiac death. There is a lack of data concerning ventricular arrhythmia ablation in Emery-Dreifuss patients.

Methods And Results: We present a case of successful ablation of a short-coupled ventricular ectopy (VE) triggering recurrent ventricular fibrillation (VF) episodes in a EMD patient with an intraseptal substrate.

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.

Purpose Of Review: Autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCAs), are genetically and clinically diverse neurodegenerative disorders characterized by progressive cerebellar dysfunction. Despite advances in sequencing technologies, a large proportion of patients with SCA still lack a definitive genetic diagnosis. The advent of advanced bioinformatic tools and emerging genomics technologies, such as long-read sequencing, offers an unparalleled opportunity to close the diagnostic gap for hereditary ataxias.

An exosome-based liquid biopsy predicts depth of response and survival outcomes to cetuximab and panitumumab in metastatic colorectal cancer: The EXONERATE Study.

PURPOSE EXONERATE (EXOsome and cell-free micro-RNAs of anti-EGFR ResistAnce) was an open-label, biomarker interventional study designed to develop, test, and validate a liquid biopsy predictive of progression-free survival (PFS), overall survival (OS), and objective response rate (ORR) for first-line EGFR inhibitors in metastatic colorectal cancer (mCRC). PATIENTS AND METHODS Patients with newly diagnosed RAS-WT, chemotherapy-naïve mCRC, both right- and left-sided, were enrolled in 2-nationwide trials to receive cetuximab or panitumumab along with chemotherapy. The primary endpoint was 12-month PFS, which was hierarchically tested in left- and right-sided mCRC to predict PFS, OS, and ORR.

Elacestrant in women with estrogen receptor-positive and HER2-negative early breast cancer: results from the preoperative window-of-opportunity ELIPSE trial.

Introduction: Elacestrant has shown significantly prolonged progression-free survival compared to standard-of-care endocrine therapy in estrogen receptor-positive (ER-positive), HER2-negative metastatic breast cancer (BC), while potential benefit in early-stage disease requires further exploration. The SOLTI-ELIPSE window-of-opportunity trial investigated the biological changes induced by a short course of preoperative elacestrant in postmenopausal women with early BC.

Methods: Eligible patients with untreated T1c (≥1.

Communicating hydrocephalus in glioblastoma presenting as chronic hydrocephalus: systematic review and meta-analysis.

Objective: Communicating hydrocephalus (CH) is an uncommon complication that can affect patients with glioblastoma (GBM). Due to its clinical and radiological findings, it presents as a chronic hydrocephalus. The mechanisms underlying its occurrence and impact on the prognosis of the disease are poorly known, but some studies have suggested that shunting can have a positive impact on the quality of life of these patients.

Reconstruction of a rostral maxillary defect by two custom-made titanium implants following a partial maxillectomy for treatment of squamous cell carcinoma in a dog.

This case report describes the reconstruction of a rostral maxillary defect by two custom-made titanium implants following a rostral partial maxillectomy for treatment of squamous cell carcinoma (SCC) in a seven-year-old dog. An incisional biopsy and CT scan were performed to establish the diagnosis, to plan possible surgery, and to assess the margins of the tumour. The patient had no radiographic signs of metastasis at the time of diagnosis.

DOse and administration Time of Indocyanine Green in near-infrared fluorescence cholangiography during laparoscopic cholecystectomy (DOTIG): a randomized clinical trial.

Background: Different techniques have been proposed to reduce the incidence of the intraoperative bile duct injury during laparoscopic cholecystectomy (LC). Among these, Near-Infrared Fluorescence Cholangiography (NIFC) with Indocyanine Green (ICG) represents a relatively recent addition. At present, there is considerable variation in the protocols for the administration of ICG.

Once-weekly IcoSema versus once-weekly semaglutide in adults with type 2 diabetes: the COMBINE 2 randomised clinical trial.

Aims/hypothesis: COMBINE 2 assessed the efficacy and safety of once-weekly IcoSema (a combination therapy of basal insulin icodec and semaglutide) vs once-weekly semaglutide (a glucagon-like peptide-1 analogue) 1.0 mg in individuals with type 2 diabetes inadequately managed with GLP-1 receptor agonist (GLP-1 RA) therapy, with or without additional oral glucose-lowering medications.

Methods: This 52 week, randomised, multicentre, open-label, parallel group, Phase IIIa trial was conducted across 121 sites in 13 countries/regions.

Prokaryotic Diversity and Community Distribution in the Complex Hydrogeological System of the Añana Continental Saltern.

The Añana Salt Valley (northern Spain) is a continental saltern consisting of a series of natural springs that have been used for salt production for at least 7000 years. This habitat has been relatively understudied; therefore, prokaryotic diversity was investigated through Illumina-based 16S rRNA gene sequencing to determine if the waters within the valley exhibit distinctive microbiological characteristics. Two main types of water were found in the valley: salty (approximately 200 g/L salinity) from the diapiric structure and brackish (≤ 20 g/L salinity) from shallow streams.

Recommendations for mitochondria transfer and transplantation nomenclature and characterization.

Intercellular mitochondria transfer is an evolutionarily conserved process in which one cell delivers some of their mitochondria to another cell in the absence of cell division. This process has diverse functions depending on the cell types involved and physiological or disease context. Although mitochondria transfer was first shown to provide metabolic support to acceptor cells, recent studies have revealed diverse functions of mitochondria transfer, including, but not limited to, the maintenance of mitochondria quality of the donor cell and the regulation of tissue homeostasis and remodelling.

A multicenter study of perioperative and functional outcomes of open vs. robot assisted uretero-enteric reimplantation after radical cystectomy.

Introduction: Open ureteroenteric reimplantation (OUER) of ureteroenteric strictures (UESs) is related to important morbidity. Robot-assisted ureteroenteric reimplantation (RUER) has been proposed to provide similar outcomes with lower morbidity. We aimed to compare perioperative and functional outcomes between RUER and OUER.

Pregnancy entails a U-shaped trajectory in human brain structure linked to hormones and maternal attachment.

Growing evidence places the gestational period as a unique moment of heightened neuroplasticity in adult life. In this longitudinal study spanning pre, during, and post pregnancy, we unveil a U-shaped trajectory in gray matter (GM) volume, which dips in late pregnancy and partially recovers during postpartum. These changes are most prominent in brain regions associated with the Default Mode and Frontoparietal Network.

Effectiveness of a co-management program with internal medicine on hip fracture patients at a regional hospital in northwest Spain. Co-inter-Monf study.

Background: Hip fractures represent a serious public health problem with a high burden of mortality, morbidity, and resource use. Co-management has proven to enhance the clinical outcomes of hip fracture patients hospitalized in various settings.

Aim: This study aims to evaluate whether the previously observed benefits of co-management can be achieved when such a program is implemented in a rural-based district hospital.

Quantification of the Anterior-Centripetal Movement of the Ciliary Muscle During Accommodation Using Dynamic OCT Imaging.

Purpose: Although the lens undoubtedly plays a major role in presbyopia, altered lens function could be in part secondary to age-related changes of the ciliary muscle. Ciliary muscle changes with accommodation have been quantified using optical coherence tomography, but so far these studies have been limited to quantifying changes in ciliary muscle thickness, mostly at static accommodative states. Quantifying ciliary muscle thickness changes does not effectively capture the dynamic anterior-centripetal movement of the ciliary muscle during accommodation.

Pregnancy Outcomes After Transvaginal Radiofrequency Ablation of Leiomyomas.

Objective: To evaluate pregnancy outcomes after transvaginal radiofrequency ablation of leiomyomas.

Methods: We conducted a retrospective review of the medical records of 226 pregnant patients after transvaginal radiofrequency ablation of leiomyomas from January 1, 2017, to February 28, 2022.

Results: Patients' mean age was 37.