Joint pain is one of the most common reasons for consultation in clinical practice, and its correct interpretation presents a diagnostic challenge due to the wide variety of causes and clinical presentations.The assessment of joint pain requires a structured clinical approach that allows differentiation between joint and extra-articular causes and distinguishes between inflammatory and non-inflammatory processes. A detailed medical history and targeted physical examination form the cornerstone of the diagnostic process, facilitating the identification of clinical patterns based on the number of joints affected, their distribution and the course of the condition over time.Supporting investigations, including laboratory tests, synovial fluid analysis and imaging techniques, should be used judiciously and always within the clinical context, avoiding indiscriminate testing.This approach allows for the early recognition of potentially serious conditions, the identification of warning signs and the optimisation of decision-making in clinical practice.
INTRODUCTION:Stickler syndrome is a hereditary connective tissue disease with variable eye, auditory and musculoskeletal involvement. Its multi-organ signs require various specialists to be aware of it. We present a case series illustrating clinical variability and the presence of undescribed genetic variants. METHODS:Descriptive observational study of patients with clinical and genetic diagnosis of Stickler syndrome evaluated in a specialized hospital setting. Clinical signs and identified genetic variants were analyzed, as well as intra- and inter-familial variability in cases with shared mutations. RESULTS:The cohort comprised 18 patients carrying pathogenic or likely pathogenic heterozygous variants in the COL2A1 gene. Six distinct variants were identified, five of which have not been reported in other patients. Ophthalmological signs were the most prevalent clinical features, with myopia and retinal detachment observed in 67% of patients, followed by hearing loss (44%) and early-onset osteoarthritis (44%). Ocular signs exhibited the earliest age at onset. Intrafamilial analyses revealed relative phenotypic homogeneity among individuals harboring the same mutation, whereas marked differences were observed between families, suggesting distinct clinical profiles associated with specific genetic variants. CONCLUSIONS:This case series confirms the marked clinical heterogeneity of Stickler syndrome and identifies novel disease-causing variants in COL2A1. The findings support the presence of a partial genotype-phenotype correlation, which may inform clinical surveillance and risk stratification, particularly with regard to ophthalmological complications.
Osteoporosis is a highly prevalent chronic disease associated with an increased risk of fragility fractures and a substantial clinical and socioeconomic burden. Its management is based on fracture risk stratification, integrating clinical risk factors, bone mineral density, and tools such as FRAX®. Previous fragility fracture is the strongest predictor of future fractures and, in most cases, indicates the need for pharmacological treatment. In patients at high risk, antiresorptive agents remain the cornerstone of therapy, whereas in those at very high risk, an initial anabolic strategy followed by antiresorptive treatment should be considered. Treatment duration and sequencing require periodic reassessment, particularly with bisphosphonates and denosumab, whose discontinuation must be carefully planned to avoid rebound effects. This practical approach allows individualized clinical decision-making and aims to optimize fracture prevention, treatment adherence, and long-term outcomes in patients with osteoporosis in routine clinical practice settings.
BACKGROUND AND OBJECTIVE:To assess the relationship between alkalosis or metabolic alkalosis (MA) and mortality or rehospitalisation in patients with acute heart failure (AHF) through a systematic review and meta-analysis. MATERIALS AND METHODS:PubMed, Scopus and Web of Science were searched from inception to February 2025. Eligible studies included at least 50 patients and evaluated the association between alkalosis or MA and mortality or rehospitalisation in AHF. The review was conducted according to PRISMA guidelines and registered in PROSPERO (CRD42024525906). RESULTS:Of 1,395 potentially relevant publications, five studies were included in the systematic review. The prevalence of alkalosis ranged from 12% to 44%, whereas the prevalence of MA ranged from 3% to 9%. Two retrospective studies found an association between MA and in-hospital mortality, although this finding was not confirmed in other studies. Only one prospective study reported an association between MA and rehospitalisation for AHF at 30 and 90 days of follow-up. Four studies including 19,296 patients were included in the meta-analysis. No significant association was observed between alkalosis or MA and in-hospital mortality (OR 1.43, 95% CI 0.91-2.25 and OR 1.47, 95% CI 0.95-2.27, respectively). CONCLUSIONS:Very few studies have evaluated the relationship between alkalosis or MA and mortality or rehospitalisation in patients with AHF. The prognostic impact of MA in AHF remains uncertain. Meta-analysis showed no significant association between MA and in-hospital mortality. However, the limited available data do not allow robust conclusions to be drawn.
Introducción El síndrome de Stickler es una enfermedad hereditaria del tejido conectivo con afectación variable a nivel ocular, auditivo y musculoesquelético. Sus manifestaciones multiorgánicas hacen necesario su conocimiento por diversos especialistas. Presentamos una serie de casos que ilustran la variabilidad clínica y la presencia de variantes genéticas no descritas. Métodos Estudio observacional descriptivo de pacientes con diagnóstico clínico y genético de síndrome de Stickler evaluados en un entorno hospitalario especializado. Se analizaron las manifestaciones clínicas y las variantes genéticas identificadas, así como la variabilidad fenotípica intra e interfamiliar en los casos con variantes compartidas. Resultados La cohorte incluyó 18 pacientes con variantes patogénicas o probablemente patogénicas en heterocigosis en el gen COL2A1. Se identificaron seis variantes, cinco de ellas no descritas previamente en otros pacientes. Las manifestaciones oftalmológicas fueron las más frecuentes, destacando la miopía y el desprendimiento de retina (67%), seguidas de la hipoacusia (44%) y la artrosis precoz (44%). Las manifestaciones oculares fueron, además, las de aparición más temprana. El análisis intrafamiliar mostró una relativa homogeneidad fenotípica entre individuos portadores de la misma mutación, mientras que se observaron diferencias relevantes entre familias, sugiriendo perfiles clínicos diferenciados según el tipo de variante genética. Conclusiones Esta serie confirma la elevada heterogeneidad clínica del síndrome de Stickler y aporta nuevas variantes en COL2A1. Los hallazgos apoyan la existencia de una relación genotipo-fenotipo parcial, que puede orientar el seguimiento clínico y la estratificación del riesgo, especialmente en el ámbito oftalmológico.
INTRODUCTION:Low-molecular-weight heparin is the anticoagulant treatment of choice for managing venous thromboembolism (VTE) during pregnancy and lactation. Vitamin K antagonists are contraindicated between weeks 6-12 of gestation due to their association with a specific embryopathy, and during the third trimester due to the risk of bleeding. Direct oral anticoagulants are contraindicated during pregnancy and breastfeeding because of the risk of prenatal malformations. Reperfusion techniques, such as systemic thrombolysis or mechanical thrombectomy, are reserved for cases of pulmonary embolism with hemodynamic instability. METHODS AND RESULTS:This consensus document, developed by the Spanish Societies of Internal Medicine, Medical Radiology, Vascular and Interventional Radiology, and Gynecology and Obstetrics, provides a comprehensive review of the most recent evidence on the treatment of VTE in pregnant patients and updates current recommendations.
Artificial intelligence (AI) is transforming knowledge management in medicine, with a radical impact on training and the acquisition of professional skills. This review aims to guide and optimise the use of AI in the training of internal medicine residents, with an emphasis on the reliability of information, clinical safety, ethical considerations, the clinical process, prompt engineering, the role of simulation, training risks, shared decision-making with patients, the role of tutors, and opportunities for the speciality, all with the central premise that AI complements but does not replace clinical training.
Recently, the 2026 American Heart Association (AHA)/American College of Cardiology (ACC)/American College of Chest Physicians/American College of Chest Physicians/Society for Cardiovascular Angiography and Interventions/Society of Hospital Medicine/Society of Interventional Radiology/Society of Vascular Medicine/Society for Vascular Nursing Guideline for Evaluation and Management of Acute Pulmonary Embolism in Adults (AHA/ACC Acute PE Guideline) has been published. We aimed to critically evaluate the most significant sections of the guidelines. The new risk classification provides granularity, although the new categories require validation. We concur with the guidelines' recommendations regarding the use of low-molecular-weight heparins (parenteral treatment) and direct oral anticoagulants (oral treatment) as the preferred anticoagulants for the vast majority of patients with acute PE. Finally, the guidelines suggest reperfusion therapies for scenarios that currently lack robust scientific evidence; therefore, the results of ongoing clinical trials must be awaited to determine their precise indications.
Antecedentes y objetivo La inflamación desempeña un papel central en la fisiopatología de la aterosclerosis, y contribuye al riesgo cardiovascular (RCV) residual. La proteína C reactiva de alta sensibilidad (PCR-hs) y el fibrinógeno se consideran biomarcadores clave en este contexto. Aunque los agonistas del receptor GLP-1 han demostrado efectos antiinflamatorios, la evidencia en vida real sobre semaglutida oral es limitada. El objetivo de este estudio fue evaluar el impacto de la semaglutida oral sobre los marcadores inflamatorios en los pacientes con alto RCV en la práctica clínica habitual. Material y métodos Estudio observacional que incluyó a los pacientes adultos en tratamiento con semaglutida oral. El objetivo principal fue el cambio en los niveles de PCR-hs y fibrinógeno. Como objetivos secundarios se evaluó las modificaciones en hemoglobina glicosilada, la seguridad y los predictores de respuesta antiinflamatoria sostenida, definida como PCR-hs≤2mg/l. Resultados Se incluyeron 164 pacientes (edad media: 68±9 años; 37,6% mujeres). Tras un seguimiento medio de 370±42 días, la PCR-hs disminuyó de 6,7±9,1 a 2,9±6,1mg/l (p<0,001) y el fibrinógeno de 428±130 a 370±113mg/dl (p<0,001). El 60% alcanzó PCR-hs≤2mg/l, con un perfil de seguridad favorable. En el análisis multivariante, la PCR-hs basal y la continuidad del tratamiento con semaglutida emergieron como predictores independientes de PCR-hs≤2mg/l. Conclusiones En condiciones de vida real, el tratamiento con semaglutida oral redujo significativamente los niveles de PCR-h y fibrinógeno en los pacientes con alto RCV. Este efecto podría contribuir al beneficio cardiovascular observado en ensayos clínicos.
Antecedentes La cardiomiopatía chagásica crónica (CCC) continúa siendo una importante carga sanitaria mundial, con características clínicas propias y opciones terapéuticas limitadas más allá del tratamiento antiparasitario. A pesar de su relevancia, no existe una revisión sistemática que evalúe de forma integral las estrategias farmacológicas e intervencionistas no antiparasitarias en la CCC. Objetivos Sintetizar la evidencia procedente de ensayos clínicos aleatorizados (ECA) sobre la eficacia y seguridad de intervenciones farmacológicas y dispositivos en la CCC. Métodos Se realizó una búsqueda sistemática siguiendo las guías PRISMA en PubMed, Web of Science, LILACS, MEDLINE y BVS el 1 de mayo de 2025 (cobertura hasta el 30 de abril de 2025; material suplementario). Se incluyeron ECA cegados en adultos con CCC que evaluaran terapias no antiparasitarias. La calidad metodológica se evaluó mediante la herramienta Cochrane Risk of Bias (RoB), y se realizó una síntesis narrativa debido a la heterogeneidad clínica. Resultados De 65 registros identificados, 6 ECA cumplieron los criterios de inclusión. Las intervenciones incluyeron carvedilol, enalapril, disopiramida, carbamazepina, piridostigmina y estrategias de estimulación cardiaca. Ningún ECA cegado informó sobre desenlaces clínicos duros como mortalidad u hospitalizaciones. La mayoría de los estudios fueron pequeños, unicéntricos y con riesgo de sesgo alto o incierto. La evidencia sugirió posibles beneficios en desenlaces subrogados (función ventricular izquierda, control de arritmias), aunque los resultados fueron inconsistentes. Conclusiones La evidencia actual sobre terapias no antiparasitarias en la CCC es escasa, heterogénea y de baja certeza. Se necesitan con urgencia ECA robustos y con suficiente potencia para establecer la eficacia de terapias modernas de insuficiencia cardiaca (ARNIs, inhibidores de SGLT2) y de intervenciones con dispositivos en esta población.
Antecedentes Existe poca evidencia sobre adecuación terapéutica en el tratamiento de la neumonía adquirida en la comunidad (NAC) en España. Hemos evaluado la adecuación del tratamiento según las guías IDSA de 2019. Material y métodos Analizamos una cohorte retrospectiva de adultos ingresados por NAC entre enero y diciembre de 2022, excluyendo neumonías nosocomiales e ingresos en la UCI. Se consideró un tratamiento adecuado si el tipo de antibiótico, la duración y la posología fueron adecuados. El objetivo primario fue determinar la proporción de pacientes con tratamiento adecuado. Secundariamente se compararon estancia y costes. Resultados Se estudiaron 382 pacientes (50% hombres, edad media 74,24años, desviación estándar 16,62años). El 17,8% (IC95%: 14,1%-22,0%) recibió tratamiento adecuado. Los pacientes con tratamiento adecuado presentaron estancias hospitalarias (−1día; IC95%: −1,7 a −0,3) y costes hospitalarios directos (−545€; IC95%: −1.081€ a −9€) significativamente menores. Conclusión La adecuación terapéutica en los pacientes ingresados con NAC es baja.
La inteligencia artificial (IA) está transformando la gestión del conocimiento en Medicina con un impacto radical en la formación y adquisición de competencias profesionales. Esta revisión pretende orientar y optimizar el uso de la IA en la formación de residentes de Medicina Interna con énfasis en la fiabilidad de la información, la seguridad clínica, los aspectos éticos, el proceso clínico, la formulación de preguntas, el papel de la simulación, los riesgos formativos, las decisiones compartidas con el paciente, el rol de los tutores y las oportunidades para la especialidad, todo con la idea central de que la IA complementa aunque no sustituye la formación clínica.
Introduction Femoral fracture (FF) is a prevalent condition associated with high morbidity and mortality. The aim of this study was to describe and analyze the factors associated with the functional and social trajectory, as well as quality of life, 12 months after FF in patients over 65 years of age. Materials and methods This is a prospective observational cohort study including patients over 65 years of age admitted for FF. Quality of life (WHOQOL-Bref), functionality (Barthel Index), and social resources were assessed at baseline and at 12 months. Descriptive, univariate, and multivariate analyses were performed to identify factors associated with functional decline and institutionalization at 12 months. Results A total of 150 patients were included (mean age 88 years; 78% women). The mean [SD] Barthel Index score at baseline and 12 months was 70 [26,1] and 57,0 [32,3], respectively (p < 0.001), and the WHOQOL-Bref score was de 86,0 [11,9] and 83,4 [13,8], respectively (p = 0.005). The need for institutionalization increased from 15% at baseline to 35% at 12 months. In the multivariate analysis, the FRAGIL-VIG frailty index was independently associated with greater functional decline and increased need for institutionalization at 12 months. Conclusions The IF-VIG index is a good predictor of functional decline and risk of institutionalization 12 months after a femur fracture in the geriatric population.
La importancia de la variabilidad de la presión arterial ha crecido exponencialmente en los últimos años. En esta revisión intentamos discutir las razones de este crecimiento. En primer lugar, describimos los diferentes métodos usados: a muy corto plazo (latido a latido), a corto plazo (monitorización ambulatoria de la presión arterial), a medio plazo (auto-medidas en casa) y a largo plazo (entre diferentes consultas médicas), así como lo modelos matemáticos para evaluarla.También incidiremos en su relevancia clínica. De esta forma, dicha variabilidad incide en enfermedades no relacionadas con el riesgo vascular, como la severidad de la enfermedad mental, la severidad de la infección por COVID-19, fracturas óseas y varias formas de deterioro cognitivo. También influye en la progresión de estado pre-hipertensivo a hipertensión establecida, así como posteriormente en el desarrollo de lesiones en órganos dianas. Además, se relaciona con hipertensión gestacional, preeclampsia y resultados adversos en el neonato. La variabilidad de la presión arterial independiente de la media, incide en el desarrollo pronóstico y complicaciones a nivel coronario y cerebrovascular. Por último, discutiremos sobre evidencias que implican mayor mortalidad tanto vascular como por todas las causas.
The International Forum of Internal Medicine (FIMI) presents a position paper that analyzes the current state and projects the future of Internal Medicine in a global context marked by population aging, multimorbidity, fragmentation of health systems, and rapid technological transformation. The document emerged from a collaborative process involving 52 scientific societies from 43 countries, with representation from all five continents. Drawing on Ibero-American research and the consensus of international leaders, it describes the central role of the internist in comprehensive, longitudinal, and person-centered care for adults, particularly those with complex conditions. Key strengths are identified, including integrative clinical reasoning and interdisciplinary coordination, alongside persistent weaknesses such as heterogeneity in training, adverse working conditions, and professional burnout. The challenges and opportunities posed by telemedicine, point-of-care ultrasound, and artificial intelligence are also examined. Finally, a structured Improvement Plan is proposed, encompassing clinical care, education, research, management, and professional well-being.
BACKGROUND AND OBJECTIVES:Multimorbid patients (MP) represent a major challenge for health care systems due to their high prevalence, resource utilization, and poorer prognosis. In the hospital setting, they account for approximately one in four admissions. Although complications are common in this population, there is limited information regarding their type, frequency, impact, and associated factors. The aim of this study was to analyze in-hospital complications in multimorbid patients and their impact on health outcomes. MATERIALS AND METHODS:Prospective observational study conducted between February 2022 and June 2023. Multimorbid patients aged ≥18 years admitted for any reason were included after providing informed consent; patients who died during hospitalization were excluded. Variables collected included sociodemographic characteristics, comorbidities, reason for admission, multimorbidity criteria, type and frequency of complications, frailty, length of stay, readmissions, and 30-day mortality. RESULTS:A total of 535 patients were included (mean age 82.2 years); 334 (62.4%) developed at least one complication, accounting for 682 events. The most frequent were neurological (25.4%), digestive (19%), hematological (16%), and cardiovascular (15.7%). Patients with complications had a longer length of stay (11.6 vs. 7.3 days; P < .001) and higher 30-day mortality (10.5% vs. 4.5%; P < .05). In multivariate analysis, cognitive impairment, prostate disease, VIG-Frail index >0.4, anemia at admission, and hospital stay >6 days were associated with increased risk (AUC 0.713; 95% CI 0.669-0.756). CONCLUSIONS:In-hospital complications are common among multimorbid patients and are associated with worse outcomes. Early identification of high-risk patients may enable preventive strategies and improve outcomes in this vulnerable population.
