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1.
Soft Matter ; 2024 Oct 25.
Artículo en Inglés | MEDLINE | ID: mdl-39449293

RESUMEN

Platonic-solid-like particles in liquid crystals offer intriguing opportunities for engineering complex materials with tailored properties. Inspired by platonic solids' geometric simplicity and symmetry, these particles possess well-defined shapes such as cubes, tetrahedra, octahedra, dodecahedra, and icosahedra. When dispersed within nematic liquid-crystalline media, these particles interact with the surrounding medium in intricate ways, influencing the local orientational order of liquid crystal molecules. In this work, we implement continuum simulations to study how the combination of particle shape and surface anchoring gives rise to line defects that follow the edges of the particles and how they are affected by the presence of a Poiseuille flow. Platonic-solid-like particles in liquid crystals have shown promise in diverse applications ranging from photonics and metamaterials to colloidal self-assembly and responsive soft materials.

3.
Nat Plants ; 2024 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-39406863

RESUMEN

Scientists' limited understanding of tropical plant communities obscures the true extent of species loss caused by habitat destruction1. The Centinelan extinction hypothesis2,3 posits an extreme but widely referenced scenario wherein forest clearing causes the immediate extinction of species known only from a single geographic location. It remains unclear, however, whether the disappearance of such microendemics reflects their global extinction or insufficient collection effort at larger scales. Here we test these hypotheses by synthesizing decades of floristic data from the heavily deforested tropical cloud forest (TCF) at Centinela, Ecuador. We find that 99% of its putative microendemics have been collected elsewhere and are not extinct. Our field work also revealed new species, highlighting the enduring conservation value of TCFs and the intense efforts required to illuminate such plant diversity 'darkspots'4. Field and herbarium research remain essential to the conservation action needed to forestall large-scale plant extinctions in Earth's beleaguered cloud forests.

4.
Int J Mol Sci ; 25(18)2024 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-39337467

RESUMEN

Head and neck squamous cell carcinoma (H&NSCC) is an anatomic, biological, and genetic complex disease. It involves more than 1000 genes implied in its oncogenesis; for this review, we limit our search and description to the genes implied in the onco-ontogeny of the derivates from the first pharyngeal arch during embryo development. They can be grouped as transcription factors and signaling molecules (that act as growth factors that bind to receptors). Finally, we propose the term embryo-oncogenesis to refer to the activation, reactivation, and use of the genes involved in the embryo's development during the oncogenesis or malignant tumor invasion and metastasis events as part of an onco-ontogenic inverse process.


Asunto(s)
Región Branquial , Humanos , Región Branquial/metabolismo , Región Branquial/patología , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/patología , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/metabolismo , Animales , Carcinogénesis/genética , Carcinogénesis/patología , Regulación Neoplásica de la Expresión Génica , Transducción de Señal
5.
Artículo en Inglés, Español | MEDLINE | ID: mdl-39313188

RESUMEN

INTRODUCTION AND OBJECTIVES: We report the results of the 2023 Spanish catheter ablation registry. METHODS: Procedural data were collected and incorporated into the REDCap platform by all participating centers through a specific form. RESULTS: There were 104 participating centers in 2023 compared with 103 in 2022. In 2023, the total number of ablation procedures was 26 207, indicating a stabilization of the increase observed in 2022 following the pandemic. The increase was mainly due to procedures for atrial fibrillation (AF), with a total of 9942 ablations, representing 38% of all substrates. Notably, pulse-field ablation represented 10.3% of all AF ablation procedures, leading single-shot ablation strategies to outnumber point-by-point AF ablation for the first time in the history of the registry. Cavotricuspid isthmus ablation remained the second most targeted substrate (19% of all substrates, n=5067). The overall acute success rate remained high (97%), with a downward trend in the complication rate (1.6% vs 1.8% in 2022) and mortality rate (0.03%; n=7). Compared with 2022, there was a significant increase in procedures performed using electro-anatomical mapping and zero-fluoroscopy techniques for cavotricuspid isthmus ablation (52% vs 26%), AV node re-entrant tachycardia (48% vs 34%), and accessory pathways (62% vs 22%). We registered 466 ablations in pediatric patients. CONCLUSIONS: The data indicate a stabilization in the post-pandemic increase in ablation procedures, with an absolute and relative increase in AF as the predominant substrate. Success rates remained stable with a modest reduction in complication and mortality rates.

6.
BMJ Open ; 14(8): e078197, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39117415

RESUMEN

OBJECTIVES: To evaluate whether the effectiveness and safety of low (81 mg daily) versus high-dose (325 mg daily) aspirin is consistent across races among patients with established atherosclerotic cardiovascular disease (ASCVD). DESIGN: A secondary analysis of the randomised controlled trial ADAPTABLE was performed. SETTING: The study was conducted in 40 centres and one health plan participating in the National Patient-Centred Clinical Research Network (PCORnet) in the USA. PARTICIPANTS: Among 15 076 participants with established ASCVD, 14 096 had self-reported race available and were included in the analysis. Participants were divided according to self-reported race as Black (n=1311, 9.3%), White (n=11 990, 85.1%) or other race (n=795, 5.6%). INTERVENTIONS: Participants were randomised to open-label daily aspirin doses of 81 mg versus 325 mg in a 1:1 ratio for a median of 26.2 months. PRIMARY AND SECONDARY OUTCOMES MEASURES: The primary effectiveness endpoint was a composite of death from any cause, hospitalisation for myocardial infarction or hospitalisation for stroke. The primary safety endpoint was hospitalisation for bleeding requiring blood product transfusion. RESULTS: Estimated cumulative incidence of the primary effectiveness endpoint at median follow-up with the 81 mg and the 325 mg daily doses were 6.70% and 7.12% in White participants (adjusted HR: 1.00 [95% CI: 0.88 to 1.15]); 12.27% and 10.69% in Black participants (adjusted HR: 1.40 [95% CI: 1.02 to 1.93]); and 6.88% and 7.69% in other participants (adjusted HR: 0.86 [95% CI: 0.54 to 1.39]) (p-interaction=0.12), respectively. There was no significant interaction between self-reported race and assigned aspirin dose regarding the secondary effectiveness and the primary safety endpoints. CONCLUSION: Race is not an effect modifier on the impact of aspirin dosing on effectiveness and safety in patients with established ASCVD. In clinical practice, treatment decisions regarding aspirin dose in secondary prevention of ASCVD should not be influenced by race. TRIAL REGISTRATION NUMBER: NCT02697916.


Asunto(s)
Aspirina , Aterosclerosis , Inhibidores de Agregación Plaquetaria , Prevención Secundaria , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Aspirina/administración & dosificación , Aspirina/uso terapéutico , Aterosclerosis/prevención & control , Enfermedades Cardiovasculares/prevención & control , Relación Dosis-Respuesta a Droga , Hemorragia/inducido químicamente , Hospitalización/estadística & datos numéricos , Infarto del Miocardio/prevención & control , Infarto del Miocardio/etnología , Infarto del Miocardio/epidemiología , Inhibidores de Agregación Plaquetaria/administración & dosificación , Inhibidores de Agregación Plaquetaria/uso terapéutico , Prevención Secundaria/métodos , Accidente Cerebrovascular/prevención & control , Resultado del Tratamiento , Estados Unidos/epidemiología , Blanco , Negro o Afroamericano
7.
Nutrients ; 16(15)2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39125261

RESUMEN

The Mediterranean diet, featuring sourdough bread, shows promise in managing metabolic syndrome. This study explored the effects of two sourdough breads, with differing fermentation times but similar nutritional profiles, on inflammation, satiety, and gut microbiota composition in adults with metabolic syndrome. In a double-blind clinical trial, participants were randomized to consume either Elias Boulanger® long-fermentation (48 h) sourdough bread (EBLong) or Elias Boulanger® short-fermentation (2 h) sourdough bread (EBShort) over a two-month period. We assessed clinical parameters, inflammatory biomarkers, satiety-related hormones, and the richness and abundance of gut microbiota at baseline and follow-up. The participants included 31 individuals (mean age, 67, 51.6% female). EBShort was associated with reduced levels of soluble intercellular adhesion molecule (sICAM), and all participants, regardless of the intervention, exhibited a decrease in sICAM and diastolic pressure from baseline (p < 0.017). At follow-up, plasminogen activator inhibitor-1 (PAI-1) levels were lower in EBShort (-744 pg/mL; 95%CI: -282 to -1210 pg/mL) compared to EBLong. No differences in microbiota richness or abundance were observed. EBShort bread was effective in reducing some inflammation markers. The consumption of sourdough bread may offer potential benefits in reducing inflammation markers in individuals with metabolic syndrome; however, longer fermentation times did not show additional benefits.


Asunto(s)
Pan , Dieta Mediterránea , Fermentación , Microbioma Gastrointestinal , Síndrome Metabólico , Humanos , Síndrome Metabólico/dietoterapia , Síndrome Metabólico/microbiología , Síndrome Metabólico/terapia , Femenino , Masculino , Método Doble Ciego , Persona de Mediana Edad , Anciano , Biomarcadores/sangre , Inhibidor 1 de Activador Plasminogénico/sangre , Factores de Tiempo , Molécula 1 de Adhesión Intercelular/sangre , Inflamación
8.
JAMA Cardiol ; 9(9): 852-857, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-39046724

RESUMEN

Importance: Pragmatic randomized clinical trials (RCTs) often use multiple data sources to examine clinical events, but the relative contribution of data sources to clinical end-point rates is understudied. Objective: To assess the contribution of data sources (electronic health records [EHRs], public/private insurance claims, and/or participant-reported data) to clinical end points among ADAPTABLE participants who had available data. Design, Setting, and Participants: The ADAPTABLE study was an open-label, pragmatic RCT from April 2016 through June 2019 conducted in research networks within clinical practice. Participants had existing atherosclerotic cardiovascular disease and available data to analyze. The characteristics of patients by combinations of data source availability were compared to examine the contribution of each of the data sources to end-point ascertainment. Data for this prespecified analysis were examined from January 2022 to June 2023. Exposures: Randomized exposure to 81 mg or 325 mg of aspirin daily. Main Outcomes and Measures: Number of events for the primary end point (composite of death, hospitalization for myocardial infarction, and hospitalization for stroke) that were contributed by EHR or claims data and then number of events contributed by each additional data source. Results: Of 15 006 participants randomized with at least 1 other source of data available beyond participant-reported data, there were 8756 (58.3%) with participant-reported and EHR data; 4291 (28.6%) with participant-reported, EHR, and claims data; 1412 (9.4%) with EHR-only data; 262 (1.7%) with participant-reported and claims data; 202 (1.3%) with EHR and claims data; and 83 (0.6%) with claims-only data. Participants with EHR-only data were younger (median age, 63.7 years; IQR, 55.8-71.4) compared with the other groups (range, 65.6-71.9 years). Among participants with both EHR and claims data, with or without participant-reported data (n = 4493), for each outcome, most events (92%-100%) were identified in the EHR or in claims data. For all clinical end points, participant-reported data contributed less than 10% of events not otherwise available from claims or EHR data. Conclusions and Relevance: In this analysis of a pragmatic RCT, claims and EHR data provided the most clinical end-point data when compared with participant-reported events. These findings provide a framework for collecting end points in pragmatic clinical trials. Further work is needed to understand the data source combinations that most effectively provide clinical end-point data in RCTs.


Asunto(s)
Aspirina , Registros Electrónicos de Salud , Humanos , Femenino , Masculino , Aspirina/uso terapéutico , Anciano , Persona de Mediana Edad , Infarto del Miocardio , Accidente Cerebrovascular , Inhibidores de Agregación Plaquetaria/uso terapéutico , Hospitalización/estadística & datos numéricos , Ensayos Clínicos Pragmáticos como Asunto , Fuentes de Información
9.
JAMA Cardiol ; 9(9): 808-816, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-38985488

RESUMEN

Importance: Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of morbidity and mortality in the US. Although aspirin is recommended for secondary prevention of ASCVD, there was no difference in safety and effectiveness of aspirin dosed daily at 81 mg or 325 mg in the ADAPTABLE (Aspirin Dosing: A Patient-Centric Trial Assessing Benefits and Long-Term Effectiveness) randomized clinical trial. However, it is unknown whether differences by sex exist in the safety and effectiveness of the different aspirin doses. Objective: To evaluate sex-specific differences in the safety and effectiveness of 2 aspirin doses in the ADAPTAPLE trial. Design, Setting, and Participants: The ADAPTABLE study was an open-label, pragmatic, randomized clinical trial that randomly assigned participants with chronic, stable ASCVD to 81 mg vs 325 mg of aspirin daily. Using Cox proportional-hazard models, male and female participants were compared for outcomes. In addition, it was assessed whether sex was an effect modifier in the association between aspirin dose and outcomes. The ADAPTABLE trial was conducted at 40 medical centers and 1 health plan. Eligible patients were 18 years and older and had established ASCVD. Study data were analyzed from December 2021 to March 2024. Interventions: Patients received 81 mg or 325 mg of aspirin daily for the secondary prevention of ASCVD. Main Outcomes and Measures: The primary effectiveness outcomes included all-cause death and hospitalization for myocardial infarction (MI) or stroke. The primary safety outcome was hospitalization for major bleeding requiring transfusion. Results: A total of 15 076 patients (median [IQR] age, 67.6 [60.7-73.6] years; 10 352 male [68.7%]) were followed up for a median (IQR) of 26.2 (19.0-34.9) months. Overall, 4724 (31.3%) were female, and 2307 of the female participants (48.8%) received aspirin 81 mg. Compared with males, female participants were younger (median [IQR] age, 66.3 [59.4-72.6] years vs 68.2 (61.4-73.9) years, less likely to self-report White race (3426 [72.5%] vs 8564 [82.7%]), more likely to smoke (564 [12.9%] vs 818 [8.4%]), and more likely to have a history of peripheral arterial disease (1179 [25.7%] vs 2314 [23.0%]). The primary effectiveness outcome of all-cause death and hospitalization for MI or stroke occurred in 379 female participants (8.1%) and 780 male participants (7.1%). There was no significant interaction by sex for the primary effectiveness end point between the 2 aspirin doses (female adjusted hazard ratio [aHR], 1.01; 95% CI, 0.82-1.26 and male aHR, 1.06; 95% CI, 0.91-1.23; P interaction term for sex = .74). During the trial, female participants had fewer revascularization procedures (237 [5.0%] vs 680 [6.6%]; aHR, 0.79; 95% CI, 0.68-0.92; P = .002) but had a higher risk of hospitalization for stroke (aHR, 1.72; 95% CI, 1.27-2.33; P < .001). Among female participants, there was a slightly higher rate of bleeding in the 81-mg aspirin cohort compared with the 325-mg cohort (20 [0.83%] vs 13 [0.52%]; aHR, 2.21; 95% CI, 1.04-4.70; P interaction term for sex = .07). There were no significant differences between female and male participants regarding aspirin dose adherence. Conclusions and Relevance: In this secondary analysis of the ADAPTABLE trial, there were no significant sex-specific differences in the effectiveness and safety of 2 aspirin doses for secondary prevention of ASCVD events. Trial Registration: ClinicalTrials.gov Identifier: NCT02697916.


Asunto(s)
Aspirina , Aterosclerosis , Prevención Secundaria , Humanos , Aspirina/administración & dosificación , Aspirina/uso terapéutico , Femenino , Masculino , Persona de Mediana Edad , Anciano , Prevención Secundaria/métodos , Aterosclerosis/epidemiología , Factores Sexuales , Inhibidores de Agregación Plaquetaria/administración & dosificación , Inhibidores de Agregación Plaquetaria/uso terapéutico , Relación Dosis-Respuesta a Droga , Infarto del Miocardio/epidemiología , Infarto del Miocardio/prevención & control , Accidente Cerebrovascular/prevención & control , Accidente Cerebrovascular/epidemiología , Hemorragia/inducido químicamente , Hemorragia/epidemiología , Enfermedades Cardiovasculares/prevención & control , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/mortalidad
10.
PLoS One ; 19(7): e0305548, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38990917

RESUMEN

BACKGROUND: Optic pathway glioma (OPG) is a feared complication to neurofibromatosis type 1 (NF1) since it can cause visual impairment in young children. The main goal of screening is to detect symptomatic OPGs that require treatment. Optical coherence tomography (OCT) has been suggested as a tool for detection of neuro-retinal damage. AIMS: To investigate whether the ganglion cell layer assessed by OCT is a reliable measure to identify and detect relapses of symptomatic OPGs in children with NF1. METHODS: Children (3-6 years) with NF1, with and without known OPG and children with sporadic OPG (S-OPG) resident in the Stockholm area, were invited and followed in a prospective study during a three-year period. Brain magnetic resonance tomography (MRI) had been performed in children with symptoms of OPG. Outcome measures were VA in logMAR, visual field index (VFI), average thicknesses of the ganglion cell-inner plexiform layer (GC-IPL), and peripapillary retinal nerve fiber layer (pRNFL). RESULTS: There were 25 children with MRI-verified OPG and 52 with NF1 without symptomatic OPG. Eyes from NF1 patients without symptoms of OPG showed significantly better results in all four analyzed parameters compared to eyes with NF1-associated OPG. Mean GC-IPL measurements seemed stable and reliable, significantly correlated to pRNFL (correlation coefficient (r) = 0.662, confidence interval (CI) = .507 to .773 p<0.001), VA (r = -0.661, CI = -7.45 to -.551, p<0.001) and VFI (r = 0.644, CI = .452 to .774, p<0.001). GC-IPL measurements were easy to obtain and acquired at considerably younger age than pRNFL (5.6±1.5 vs 6.8±1.3; p<0.001). CONCLUSIONS: The mean GC-IPL thickness could distinguish well between eyes with OPG and eyes without symptomatic OPG in children with NF1. As thinning of GC-IPL assessed with OCT could indicate underlying OPG, it should be included in the screening protocol of children with questionable VA measurements and in particular in children with NF1.


Asunto(s)
Neurofibromatosis 1 , Glioma del Nervio Óptico , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica , Humanos , Tomografía de Coherencia Óptica/métodos , Neurofibromatosis 1/diagnóstico por imagen , Niño , Preescolar , Masculino , Femenino , Células Ganglionares de la Retina/patología , Glioma del Nervio Óptico/diagnóstico por imagen , Estudios Prospectivos , Imagen por Resonancia Magnética/métodos , Agudeza Visual
11.
Rev Esp Enferm Dig ; 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38989885

RESUMEN

We present the case of a 74-year-old man who experienced a rare complication after a pulmonary vein ablation procedure. The complication is illustrated and the clinical course of the patient is described.

12.
Ann Cardiothorac Surg ; 13(3): 244-254, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38841079

RESUMEN

The introduction of the Y(ang)-technique for aortic root enlargement has sparked a renewed interest in annular and root enlargement procedures world-wide. In order to execute these procedures proficiently however, it's important to understand the complex three-dimensional structure of the aortic root and left ventricular outflow tract, and also be familiar with the different enlargement techniques. Herein, we are providing a description of the aortic root anatomy and the most commonly utilized root enlargement procedures. This should facilitate clinical decision making and guidance of patients towards the most appropriate procedure, which should not only treat the patients' acute symptoms, but should also set the patient up for potentially needed future procedures and respective life-time management of aortic valve disease.

13.
Radiographics ; 44(6): e230182, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38781089

RESUMEN

Renal transplant is the first-line treatment of end-stage renal disease. The increasing number of transplants performed every year has led to a larger population of transplant patients. Complications may arise during the perioperative and postoperative periods, and imaging plays a key role in this scenario. Contrast-enhanced US (CEUS) is a safe tool that adds additional value to US. Contrast agents are usually administered intravenously, but urinary tract anatomy and complications such as stenosis or leak can be studied using intracavitary administration of contrast agents. Assessment of the graft and iliac vessels with CEUS is particularly helpful in identifying vascular and parenchymal complications, such as arterial or venous thrombosis and stenosis, acute tubular injury, or cortical necrosis, which can lead to graft loss. Furthermore, infectious and malignant graft involvement can be accurately studied with CEUS, which can help in detection of renal abscesses and in the differentiation between benign and malignant disease. CEUS is also useful in interventional procedures, helping to guide percutaneous aspiration of collections with better delimitation of the graft boundaries and to guide renal graft biopsies by avoiding avascular areas. Potential postprocedural vascular complications, such as pseudoaneurysm, arteriovenous fistula, or active bleeding, are identified with CEUS. In addition, newer quantification tools such as CEUS perfusion are promising, but further studies are needed to approve its use for clinical purposes. ©RSNA, 2024 Supplemental material is available for this article.


Asunto(s)
Medios de Contraste , Trasplante de Riñón , Complicaciones Posoperatorias , Ultrasonografía , Humanos , Trasplante de Riñón/efectos adversos , Complicaciones Posoperatorias/diagnóstico por imagen , Ultrasonografía/métodos , Fallo Renal Crónico/diagnóstico por imagen , Fallo Renal Crónico/terapia , Fallo Renal Crónico/cirugía
14.
Rev Colomb Psiquiatr (Engl Ed) ; 53(1): 17-25, 2024.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38670824

RESUMEN

OBJECTIVE: To determine the psychiatric diagnoses and treatments of patients admitted to the high-risk obstetric service who underwent a consultation with a liaison psychiatrist. METHODS: A descriptive observational study that included pregnant women from the high-risk obstetric service of a highly specialised clinic in Medellín, who had a liaison psychiatry consultation between 2013 and 2017. The main variables of interest were psychiatric and obstetric diagnoses and treatments, in addition to biopsychosocial risk factors. RESULTS: A total of 361 medical records were screened, with 248 patients meeting the inclusion criteria. The main prevailing psychiatric diagnosis was major depressive disorder (29%), followed by adaptive disorder (21.8%) and anxiety disorders (12.5%). The pharmacologic treatments most used by the psychiatry service were SSRI antidepressants (24.2%), trazodone (6.8%) and benzodiazepines (5.2%). The most common primary obstetric diagnosis was spontaneous delivery (46.4%), and the predominant secondary obstetric diagnoses were hypertensive disorder associated with pregnancy (10.4%), gestational diabetes (9.2%) and recurrent abortions (6.4%). Overall, 71.8% of the patients had a high biopsychosocial risk. CONCLUSIONS: The studied population's primary psychiatric disorders were major depressive disorder, adjustment disorder and anxiety disorders, which implies the importance of timely recognition of the symptoms of these perinatal mental pathologies, together with obstetric and social risks, in the prenatal consultation. Psychiatric intervention should be encouraged considering the negative implications of high biopsychosocial risk in both mothers and children.


Asunto(s)
Trastornos Mentales , Complicaciones del Embarazo , Humanos , Femenino , Embarazo , Adulto , Colombia/epidemiología , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/psicología , Adulto Joven , Trastornos Mentales/epidemiología , Factores de Riesgo , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/diagnóstico , Trastornos de Ansiedad/epidemiología , Derivación y Consulta/estadística & datos numéricos , Adolescente , Trastornos de Adaptación/epidemiología , Trastornos de Adaptación/diagnóstico , Embarazo de Alto Riesgo
15.
Ophthalmic Genet ; 45(3): 299-302, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38526149

RESUMEN

INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.


This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.


Asunto(s)
Síndrome de Alagille , Proteína Jagged-1 , Humanos , Síndrome de Alagille/genética , Síndrome de Alagille/complicaciones , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/patología , Proteína Jagged-1/genética , Masculino , Niño , Tomografía de Coherencia Óptica , Enfermedades de la Coroides/genética , Enfermedades de la Coroides/diagnóstico , Angiografía con Fluoresceína , Agudeza Visual/fisiología , Atrofia , Mácula Lútea/patología , Mácula Lútea/anomalías , Coroides/patología , Coroides/anomalías
16.
Rev. colomb. psiquiatr ; 53(1): 17-25, ene.-mar. 2024. tab
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1576345

RESUMEN

RESUMEN Objetivos: Determinar los diagnósticos psiquiátricos y describir características clínicas, el riesgo biopsicosocial y los tratamientos de las pacientes hospitalizadas en el servicio de alto riesgo obstétrico para las que se realizó una interconsulta con psiquiatría. Métodos: Estudio observacional descriptivo en el que se incluyó a las pacientes del servicio de alto riesgo obstétrico de una institución de alta complejidad de Medellín para las que se interconsultó por psiquiatría de enlace entre 2013 y 2017. Las principales variables de interés fueron los diagnósticos y tratamientos tanto psiquiátricos como gineco obstétricos, además de los factores de riesgo obstétricos y psicosociales. Resultados: Se cribaron en total 361 historias clínicas, y 248 pacientes cumplían los criterios de inclusión. El diagnóstico psiquiátrico principal más prevalente fue trastorno depresivo mayor (29%), seguido por el trastorno de adaptación (21,8%) y los trastornos de ansiedad (12,5%); los fármacos más prescritos por psiquiatría fueron antidepresivos ISRS (24,2%), trazodona (6,8%) y benzodiacepinas (5,2%). El diagnóstico obstétrico principal más común fue el parto espontáneo (46,4%) y los diagnósticos obstétricos secundarios que predominaron fueron trastorno hipertensivo asociado con el embarazo (10,4%), diabetes gestacional (9,2%) y abortos recurrentes (6,4%). El 71,8% de las pacientes tenían un riesgo biopsicosocial alto. Conclusiones: Los principales diagnósticos psiquiátricos fueron trastorno depresivo mayor, trastorno de adaptación y trastornos de ansiedad, lo que implica la importancia del oportuno reconocimiento en la evaluación prenatal de los síntomas de estas entidades, conjuntamente con los factores de riesgo obstétrico y social. La intervención psiquiátrica es necesaria considerando las implicaciones negativas que tiene el alto riesgo tanto para la madre como paraelniño.


ABSTRACT Objective To determine the psychiatric diagnoses and treatments of patients admitted to the high-risk obstetric service who underwent a consultation with a liaison psychiatrist. Methods: A descriptive observational study that included pregnant women from the high-risk obstetric service of a highly specialised clinic in Medellín, who had a liaison psychiatry consultation between 2013 and 2017. The main variables of interest were psychiatric and obstetric diagnoses and treatments, in addition to biopsychosocial risk factors. Results: A total of 361 medical records were screened, with 248 patients meeting the inclusion criteria. The main prevailing psychiatric diagnosis was major depressive disorder (29%), followed by adaptive disorder (21.8%) and anxiety disorders (12.5%). The pharmacologic treatments most used by the psychiatry service were SSRI antidepressants (24.2%), trazodone (6.8%) and benzodiazepines (5.2%). The most common primary obstetric diagnosis was spontaneous delivery (46.4%), and the predominant secondary obstetric diagnoses were hypertensive disorder associated with pregnancy (10.4%), gestational diabetes (9.2%) and recurrent abortions (6.4%). Overall, 71.8% of the patients had a high biopsychosocial risk. Conclusions: The studied population's primary psychiatric disorders were major depressive disorder, adjustment disorder and anxiety disorders, which implies the importance of timely recognition of the symptoms of these perinatal mental pathologies, together with obstetric and social risks, in the prenatal consultation. Psychiatric intervention should be encouraged considering the negative implications of high biopsychosocial risk in both mothers and children.

17.
Biomedicines ; 12(2)2024 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-38397883

RESUMEN

A poorly studied issue in women with breast cancer is the role of incretins (GIP (glucose-dependent insulinotropic polypeptide) and GLP-1 (glucagon-like peptide-1)) in the quantity and quality of muscle mass in lean and obese individuals. The current report aims to analyze the patterns of association and the role of incretin in muscle functionality and body composition in women with cancer compared with healthy women (mammography BI-RADS I or II) to elucidate whether GIP and GLP-1 can be used to estimate the risk, in conjunction with overweight or obesity, for breast cancer. We designed a case-control study in women with a breast cancer diagnosis confirmed by biopsy in different clinical stages (CS; n = 87) and healthy women with a mastography BI-RADS I or II within the last year (n = 69). The women were grouped according to body mass index (BMI): lean (<25 kg/m2BS), overweight (≥25-<30 kg/m2BS), and obese (≥30 kg/m2BS). We found that GLP-1 and GIP levels over 18 pg/mL were associated with a risk of breast cancer (GIP OR = 36.5 and GLP-1 OR = 4.16, for the entire sample), particularly in obese women (GIP OR = 8.8 and GLP-1 OR = 6.5), and coincidentally with low muscle quality indexes, showed an association between obesity, cancer, incretin defects, and loss of muscle functionality.

18.
Am J Hypertens ; 37(5): 366-378, 2024 04 15.
Artículo en Inglés | MEDLINE | ID: mdl-38214400

RESUMEN

BACKGROUND: Hypertension is the leading risk factor for cardiovascular diseases (CVDs) and a major public health issue worldwide. In Brazil, it affects approximately 52.5% of the adult population. We describe the solutions package and the impact of a population health initiative in São Paulo city, following the CARDIO4Cities approach for the management of cardiovascular risk. METHODS: Using a design thinking approach, interventions were developed with a coalition of local and international stakeholders to address needs of patients, healthcare professionals, and the health system. The resulting solution package was checked to comply with guidelines for non-communicable disease and hypertension management. Clinical impact was measured by extracting the hypertension cascade of care-monitored, diagnosis, treatment, and control-from medical records. RESULTS: Under the leadership of the municipal health authorities, nine solutions were piloted and scaled across the city. Solutions conform with local and international best-practices. Between October 2017 and December 2021, 11,406 patient records were analyzed. Results showed a 40% increase in monitored patients (patients with at least one blood pressure, BP, measurement); reduced proportions of patients diagnosed among those with available BP measurements (72%-53%) and treated among diagnosed (93%-85%); and an improvement in controlled patients among those receiving treatment (16%-27%). CONCLUSIONS: The solution package described in this study was correlated with increased BP control. The implementation methodology and results add to the body of real-world evidence supporting population health implementation science in Brazil and beyond.


Asunto(s)
Enfermedades Cardiovasculares , Hipertensión , Adulto , Humanos , Presión Sanguínea , Brasil/epidemiología , Hipertensión/diagnóstico , Hipertensión/tratamiento farmacológico , Hipertensión/epidemiología , Salud Pública
20.
BMC Med Imaging ; 24(1): 23, 2024 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-38267889

RESUMEN

BACKGROUND: Brain CT can be used to evaluate pediatric patients with suspicion of cerebral pathology when anesthetic and MRI resources are scarce. This study aimed to assess if pediatric patients referred for an elective brain CT could endure a diagnostic fast brain MRI without general anesthesia using a one-minute multi-contrast EPI-based sequence (EPIMix) with comparable diagnostic performance. METHODS: Pediatric patients referred for an elective brain CT between March 2019 and March 2020 were prospectively included and underwent EPIMix without general anesthesia in addition to CT. Three readers (R1-3) independently evaluated EPIMix and CT images on two separate occasions. The two main study outcomes were the tolerance to undergo an EPIMix scan without general anesthesia and its performance to classify a scan as normal or abnormal. Secondary outcomes were assessment of disease category, incidental findings, diagnostic image quality, diagnostic confidence, and image artifacts. Further, a side-by-side evaluation of EPIMix and CT was performed. The signal-to-noise ratio (SNR) was calculated for EPIMix on T1-weighted, T2-weighted, and ADC images. Descriptive statistics, Fisher's exact test, and Chi-squared test were used to compare the two imaging modalities. RESULTS: EPIMix was well tolerated by all included patients (n = 15) aged 5-16 (mean 11, SD 3) years old. Thirteen cases on EPIMix and twelve cases on CT were classified as normal by all readers (R1-3), while two cases on EPIMix and three cases on CT were classified as abnormal by one reader (R1), (R1-3, p = 1.00). There was no evidence of a difference in diagnostic confidence, image quality, or the presence of motion artifacts between EPIMix and CT (R1-3, p ≥ 0.10). Side-by-side evaluation (R2 + R4 + R5) reviewed all scans as lacking significant pathological findings on EPIMix and CT images. CONCLUSIONS: Full brain MRI-based EPIMix sequence was well tolerated without general anesthesia with a diagnostic performance comparable to CT in elective pediatric patients. TRIAL REGISTRATION: This study was approved by the Swedish Ethical Review Authority (ethical approval number/ID Ethical approval 2017/2424-31/1). This study was a clinical trial study, with study protocol published at ClinicalTrials.gov with Trial registration number NCT03847051, date of registration 18/02/2019.


Asunto(s)
Encéfalo , Imagen por Resonancia Magnética , Niño , Preescolar , Humanos , Encéfalo/diagnóstico por imagen , Estudios de Factibilidad , Estudios Prospectivos , Tomografía Computarizada por Rayos X
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