Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

Effect of a physical activity and healthy eating lifestyle intervention in pregnancy on fetal growth trajectories: The DALI randomised controlled trial.

Background: Obesity during pregnancy is related to fetal overgrowth. Effective interventions that can mitigate this risk are needed.

Objectives: This study aimed to investigate the effect of a lifestyle intervention for pregnant women with obesity on fetal growth trajectories.

Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

Introduction And Objectives: In recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African ancestry. The aim of this study was to analyze the impact of ATTRv caused by p.

Electrophisiological monitoring of pain in non-communicative critically ill patients.

Electrophysiological monitoring of pain provides objective measures that allow for pain control and adjustment of analgesia in non-communicative patients. Among the available electrophysiological devices, automated infrared pupillometry, Analgesia Nociception Index (ANI), and Nociception Level Index (NOL®) stand out. These non-invasive measurement systems analyze the sympathetic or parasympathetic nervous system response to painful stimuli by observing pupillary dilatation and reactivity (pupillometry), heart rate during respiration (ANI), or a combination of multiple parameters from the nociceptive-autonomic medullary circuit (NOL®).

Decrease in Fracture Rate with Mandatory Bone-protecting Agents in the EORTC 1333/PEACE-3 Trial Comparing Radium-223 Combined with Enzalutamide Versus Enzalutamide Alone: A Safety Analysis.

Bone health is central to the management of patients with metastatic castration-resistant prostate cancer (mCRPC). International guidelines recommend giving a bone-protecting agent (BPA) to patients with mCRPC and bone metastases. However, the data supporting these recommendations were generated before androgen receptor pathway inhibitors (ARPIs) were available.

Oxytocin levels in response to CRH administration in hypopituitarism and hypothalamic damage: a randomized, crossover, placebo-controlled trial.

Increasing evidence supports the presence of oxytocin deficiency (OXT-D) in patients with hypopituitarism and hypothalamic damage (HHD), that might be associated with neuropsychological deficits and sexual dysfunction, leading to worse quality of life (QoL). Therefore, identifying a provocative test to diagnose an OXT-D will be important. Corticotropin-releasing hormone (CRH) is a candidate for such a test as it increases oxytocin secretion in animal models.

A comprehensive GPS-based analysis of activity spaces in early and late pregnancy using the ActMAP framework.

Health implications of mobility during pregnancy entail a need to understand pregnant women's activity spaces. We present ActMAP, a framework for quantifying multiple aspects of activity spaces from distinct trips and stays derived from GPS data. We applied ActMAP to data from 238 pregnant women in Barcelona, Spain (2018-2020) and explored weekday, weekend and intraday associations between pregnancy trimester and activity spaces.

Uncertainty experienced by the critical patient upon discharge to the general ward: Care proposals from the perspective of Mishel's theory.

Background: The process of discharging the critical patient to the ward (discharge from critical care to the general ward-DCCW) is often described as an experience involving uncertainty which may affect the patient's quality of life and ability to cope. Coping with uncertainty is an individual response not related to the course of the illness that is dependent on external and internal resources and the ability to utilize them. Mishel's theory of uncertainty identifies aspects of care that can shape the experience of uncertainty associated with the illness.

A new STI in the city: MPOX in Barcelona. First outbreak (5/2022-5/2023) and subsequent resurgence.

Background: In May 2022, after the suspension of the mobility restrictions due to the COVID-19 pandemic, the first outbreak of MPOX virus, transmitted from human to human, was detected outside of Africa, affecting mostly sexually active men who have sex with men. Our aim is to report the first outbreak of MPOX in Barcelona city in the period from 5/2022 to 5/2023 and the subsequent surge of cases in 8/2023.

Methods: We performed a descriptive study of all notified cases in city residents, obtained through epidemiological surveys.

Real-World Experience in Tricuspid Transcatheter Edge-to-Edge Repair: Transcatheter Tricuspid Valve Repair in Spain Registry.

Background: Significant tricuspid regurgitation (TR) is associated with increased morbidity and mortality. The development of transcatheter valve repair therapies has opened a wide range of opportunities for treatment of patients with high surgical risk. Real-world data might improve patient selection and outcome.

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.

Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.

Interobserver and intraobserver variability among different vendors for mitral valve assessment: implications for transcatheter mitral valve repair.

Purpose: Pre-procedural imaging is critical for transcatheter mitral valve repair planning in patients with mitral valve disease. As differences among various measurement techniques for valve evaluation are still poorly understood, we sought to assess the intra- and interobserver agreement of complex measurements derived from a prototype mitral evaluation tool (Siemens) and a commercially available tool (CVI42) using both saddle- and D-shaped mitral annulus techniques.

Materials And Methods: Multiphasic cardiac computed tomography angiography data were loaded into each software.

The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Effectiveness of a nurse training intervention in the emergency department to improve the diagnosis and treatment of stemi patients: EDUCAMI study.

Background: Clinical practice guidelines for acute coronary syndrome recommend an interval between electrocardiogram (ECG) and balloon of <60 min in patients attending the emergency department (ED) of a hospital with primary angioplasty capacity. Compliance with this can be complex, especially in atypical presentations.

Objective: To assess the effectiveness of specific training for ED triage nurses in reducing ECG-balloon time in STEMI.

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.

Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.

Cardiovascular Risk Prediction Models in People Living with Human Immunodeficiency Virus under Antiretroviral Therapy in Northern Mexico.

Background: The effective use of combination antiretroviral therapy (ART) has significantly improved the life expectancy of people living with the human immunodeficiency virus (HIV). However, complications have shifted from opportunistic infections to issues such as drug toxicity and resistance, as well as an increase in premature cardiovascular diseases (CVD). These conditions are attributed to chronic immune activation and persistent inflammation caused by HIV, along with lipid abnormalities and insulin resistance.

Ovarian Carcinomas: Clinicopathologic and Molecular Features With Comments on 2014 FIGO Staging.

According to histopathology and molecular genetics, there are 5 major subtypes of ovarian carcinomas: high-grade serous (70%), endometrioid (10%), clear cell (10%), mucinous (3% to 4%), and low-grade serous (<5%) carcinomas. These tumors, which constitute over 95% of cases, represent distinct diseases with different prognoses and therapy. This review outlines contemporary advances in molecular pathology, which have expanded our knowledge of the biology of epithelial ovarian cancer and are also important to patient management.

Epidemiologic and clinical characteristics and course of acute heart failure and cardiogenic shock diagnosed in emergency departments.

Objective: To describe the characteristics of patients diagnosed with acute heart failure (AHF) in emergency departments (EDs) who develop cardiogenic shock (CS) not associated with ST-segment elevation acute coronary syndrome (STACS).

Methods: Information for patients diagnosed with AHF in 23 Spanish EDs and registered between 2009 and 2019 were included for analysis if the patients developed symptoms consistent with CS. We described baseline clinical characteristics related to cardiac decompensation and CS, as well as 30-day mortality.

Diverse real-life outcomes after intensive risk-adapted therapy for 1034 AML patients from the CETLAM Group.

Given the heterogeneity of acute myeloid leukemia patients, it is necessary to identify patients considered fit for intensive therapy but who will perform poorly, and in whom alternative approaches deserve investigation. We analyzed 1034 fit adults ≤70 years intensively treated between 2012 and 2022 in the CETLAM group. Young adults ( ≤ 60 years) presented higher remission rates and improved survival than older adults above that age (CR 79% vs.

Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia and small lymphocytic lymphoma from Chronic Lymphocytic Leukemia Spanish Group (GELLC).

Introduction: Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in adults in Western countries, with a median age at diagnosis of 72 years. This guide, developed by the Spanish Group for Chronic Lymphocytic Leukemia (GELLC), addresses the most relevant aspects of CLL, with the objectives of facilitating and aiding the diagnostic process, establishing therapeutic recommendations for choosing the best treatment for each type of patient, as well as standardizing the management of CLL and ensuring equity across different hospitals in terms of the use of the various available treatment regimens.

Methodology: The references obtained were classified according to the level of evidence and following the criteria established by the Agency for Health Research and Quality, and the recommendations were classified according to the criteria of the National Comprehensive Cancer Network (NCCN).

Acral melanoma in the Caucasian population: a comprehensive cohort study on epidemiological, clinicopathological, and prognostic features.

Background: Acral melanoma is associated with poor prognosis. Studying the characteristics and prognosis of Caucasian patients is crucial to understand the distinct features of this tumor.

Objectives: To analyze the epidemiological, clinicopathological, and prognostic features of acral melanoma in Caucasian patients.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Do Unresectable Giant Cell Tumors of Bone Treated With Denosumab Progress After Discontinuation of Treatment?

Background: Denosumab represents a valuable treatment option for unresectable giant cell tumors of the bone (GCTBs). However, no standardized protocols exist determining the length of administration, with few studies having been published on patients who reached the end of treatment.

Aims: To analyze the outcomes of patients diagnosed with GCTB and who had finished single treatment with denosumab.