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1.
medRxiv ; 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38766190

RESUMO

INTRODUCTION: Traditional brain imaging genetics studies have primarily focused on how genetic factors influence the volume of specific brain regions, often neglecting the overall complexity of brain architecture and its genetic underpinnings. METHODS: This study analyzed data from participants across the Alzheimer's disease (AD) continuum from the ALFA and ADNI studies. We exploited compositional data analysis to examine relative brain volumetric variations that (i) differentiate cognitively unimpaired (CU) individuals, defined as amyloid-negative (A-) based on CSF profiling, from those at different AD stages, and (ii) associated with increased genetic susceptibility to AD, assessed using polygenic risk scores. RESULTS: Distinct brain signatures differentiated CU A-individuals from amyloid-positive MCI and AD. Moreover, disease stage-specific signatures were associated with higher genetic risk of AD. DISCUSSION: The findings underscore the complex interplay between genetics and disease stages in shaping brain structure, which could inform targeted preventive strategies and interventions in preclinical AD.

2.
Sleep Med ; 119: 229-233, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38704870

RESUMO

OBJECTIVE: Although manual scoring has been classically considered the gold standard to identify periodic leg movements (PLM), it is a very time consuming and expensive process, also subject to variability in interpretation. In the last decades, different authors have observed reasonably good agreement between automated PSG scoring algorithms and manual scoring in adults, according to established criteria. We aim to compare the automatic software analysis of our polysomnogram with the manual staging in children with sleep-disordered breathing. METHODS: We performed a semiautomatic method, in which an experienced technician watched the video recording and removed from the automatic analysis those movements that did not correspond to true candidate leg movement (LM). RESULTS: A total of 131 PSGs were studied; applying the established criteria, 65 children were diagnosed of obstructive sleep apnea, and 66 presented snoring but with no sleep apnea. The mean age was 6.7 years (±1.7) and twenty-five children (19.08 %) had a PLMI >5/h. Statistical differences were found not only for PLMI (manual: 2.20 (0.7, 4.1) vs automatic (6.4 (3.85,9.5); p < 0.001), but for almost of all indexes assessed between the automatic and the manual scoring analysis. The level of concordance was only moderate for PLM index (0.63 [0.51-0.72]); showing that, unlike the articles published in the adult population, automatic analysis is not accurate in children and, manually or semi-automatically analysis as ours need to be done. CONCLUSION: It seems that PLM detection algorithm might work accurately but, the real need would be a true LM detection algorithm.

3.
NAR Genom Bioinform ; 6(2): lqae038, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38666212

RESUMO

The growing interest in studying the relationship between the human microbiome and our health has also extended to time-to-event studies where researchers explore the connection between the microbiome and the occurrence of a specific event of interest. The analysis of microbiome obtained through high throughput sequencing techniques requires the use of specialized Compositional Data Analysis (CoDA) methods designed to accommodate its compositional nature. There is a limited availability of statistical tools for microbiome analysis that incorporate CoDA, and this is even more pronounced in the context of survival analysis. To fill this methodological gap, we present coda4microbiome for survival studies, a new methodology for the identification of microbial signatures in time-to-event studies. The algorithm implements an elastic-net penalized Cox regression model adapted to compositional covariates. We illustrate coda4microbiome algorithm for survival studies with a case study about the time to develop type 1 diabetes for non-obese diabetic mice. Our algorithm identified a bacterial signature composed of 21 genera associated with diabetes development. coda4microbiome for survival studies is integrated in the R package coda4microbiome as an extension of the existing functions for cross-sectional and longitudinal studies.

4.
Radiologia (Engl Ed) ; 66(2): 132-154, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38614530

RESUMO

80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of "non-hereditary" familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/genética , Radiologistas , Ribonuclease III , RNA Helicases DEAD-box
5.
Radiología (Madr., Ed. impr.) ; 66(2): 132-154, Mar.- Abr. 2024. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-231515

RESUMO

El 80% de los carcinomas renales (CR) se diagnostican incidentalmente por imagen. Se aceptan un 2-4% de multifocalidad «esporádica» y un 5-8% de síndromes hereditarios, probablemente con infraestimación. Multifocalidad, edad joven, historia familiar, datos sindrómicos y ciertas histologías hacen sospechar un síndrome hereditario. Debe estudiarse individualmente cada tumor y multidisciplinarmente al paciente, con estrategias terapéuticas conservadoras de nefronas y un abordaje diagnóstico radioprotector. Se revisan los datos relevantes para el radiólogo en los síndromes de von Hippel-Lindau, translocación de cromosoma-3, mutación de proteína-1 asociada a BRCA, CR asociado a déficit en succinato-deshidrogenasa, PTEN, CR papilar hereditario, cáncer papilar tiroideo-CR papilar, leiomiomatosis hereditaria y CR, Birt-Hogg-Dubé, complejo esclerosis tuberosa, Lynch, translocación Xp11.2/fusión TFE3, rasgo de células falciformes, mutación DICER1, hiperparatoridismo y tumor mandibular hereditario, así como los principales síndromes de predisposición al tumor de Wilms.(AU)


80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of “sporadic” multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of “non-hereditary” familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.(AU)


Assuntos
Humanos , Masculino , Feminino , Neoplasias Colorretais Hereditárias sem Polipose , Esclerose Tuberosa , Síndrome de Birt-Hogg-Dubé , Doença de von Hippel-Lindau , Neoplasias Renais , Metástase Neoplásica/diagnóstico por imagem , Radiologia/métodos , Diagnóstico por Imagem , Neoplasias Primárias Múltiplas , Nefropatias/diagnóstico por imagem , Carcinoma de Células Renais
6.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 51(1): [100925], Ene-Mar, 2024. tab
Artigo em Espanhol | IBECS | ID: ibc-229780

RESUMO

Objetivos: Evaluar si existe una mayor tasa de resultados obstétricos adversos, incontinencia urinaria posparto y problemas sexuales entre las mujeres que dan a luz después de los 50 años.Material y métodos: Estudio observacional ambispectivo de un solo centro. Se registraron la tasa de parto por cesárea, la diabetes gestacional, la preeclampsia, la restricción del crecimiento intrauterino (RCIU), la prematuridad, la incontinencia urinaria (Cuestionario de incontinencia en formato corto [ICIQ-SF]) y la disfunción sexual (índice de función sexual femenina [FSFI-6]). Resultados: Veinticinco (0,06%) de 38.510 nacimientos ocurrieron en mujeres mayores de 50 años durante el período de estudio en nuestro centro. Hubo 16 (64%) partos por cesárea. Siete (28%) mujeres padecieron diabetes gestacional. Se diagnosticó preeclampsia en 3 (12%) mujeres. Hubo 5 (20%) casos de RCIU. Hubo 5 (20%) partos prematuros. Las diferencias en la tasa de parto por cesárea, diabetes gestacional y RCIU entre el grupo de estudio y la población total fueron estadísticamente significativas. Los resultados de los cuestionarios ICIQ-SF y FSFI-6 se obtuvieron de 17 mujeres. Se encontró algún grado de incontinencia urinaria en 7 (41,1%) y disfunción sexual en 9 (52,9%) mujeres. Conclusiones: Los embarazos en mujeres mayores de 50 años parecen estar asociados con una mayor tasa de diabetes gestacional, RCIU y preeclampsia. Hay una alta prevalencia de incontinencia urinaria y problemas sexuales entre estas mujeres.(AU)


Objectives: To assess whether there is a higher rate of adverse obstetric outcomes, postpartum urinary incontinence, and sexual problems among women who give birth over 50. Material and methods: A single-center ambispective observational study. Rate of cesarean birth, gestational diabetes, preeclampsia, intrauterine growth restriction (IUGR), prematurity, urinary incontinence (Incontinence Questionnaire Short Form [ICIQ-SF]), and sexual dysfunction (Female Sexual Function Index [FSFI-6]) were recorded. Results: Twenty-five (0.06%) of 38,510 births occurred in women over 50 during the study period. There were 16 (64%) cesarean births. Seven (28%) women had gestational diabetes. Preeclampsia was diagnosed in 3 (12%) women. There were 5 (20%) cases of IUGR. There were 5 (20%) preterm births. The differences in the rate of cesarean birth, gestational diabetes, and IUGR between the study group and the total population were statistically significant. The results of the ICIQ-SF and FSFI-6 questionnaires were obtained from 17 women. Some degree of urinary incontinence was found in 7 (41.1%) and sexual dysfunction in 9 (52.9%) women. Conclusions: Pregnancies in women over 50 may be associated with a higher rate of gestational diabetes, IUGR, and preeclampsia. There is a high prevalence of urinary incontinence and sexual problems among these women.(AU)


Assuntos
Humanos , Feminino , Gravidez , Pessoa de Meia-Idade , Cesárea/estatística & dados numéricos , Disfunções Sexuais Fisiológicas , Incontinência Urinária , Pré-Eclâmpsia , Diabetes Gestacional , Menopausa , Ginecologia , Obstetrícia , Recém-Nascido Prematuro , Período Pós-Parto , Coito , Assexualidade , Complicações na Gravidez
7.
Eur J Obstet Gynecol Reprod Biol ; 295: 48-52, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38335584

RESUMO

OBJECTIVE: Premature births are a health problem arising in triplet pregnancies, resulting in high levels of morbidity and mortality. The objective of this study is to evaluate the utility of cervical pessaries in reducing prematurity (<34 weeks) in triplet pregnancies. METHODS: This is a single-center, retrospective case-control study regarding triplet pregnancies with follow-up at the La Paz University Hospital between 2000 and 2023. Maternal characteristics, obstetric and perinatal outcomes, and the use of cervical pessaries were examined. RESULTS: 165 triplet pregnancies were analyzed: 87 (52.7 %) in the case group (premature triplet pregnancies) and 78 in the control group (non-premature triplet pregnancies). A cervical pessary was inserted in 15 (17.2 %) triplet pregnancies in the case group and in 12 (16.7 %) triplet pregnancies in the control group (p = 0.92; OR = 1.04 (0.46-2.35)). A pessary was later inserted in the non-premature group (p = 0.01). The risk of preterm labor and the use of tocolytics ± glucocorticoids were found to be significantly more frequent in the premature group, with p = 0.01; OR = 2.30 (1.21-4.36) and p < 0.01; OR = 2.36 (1.23-4.44), respectively. Protocol-based cesarean sections were more frequent in the non-premature group (p < 0.01), while cesarean sections due to maternal complications (p < 0.01) and premature membrane rupture (p < 0.01) were more frequent in the premature group. CONCLUSION: The cervical pessary is not useful in preventing preterm births (< 34 weeks) in triplet pregnancies. It is likely that being pregnant with triplets is a powerful independent factor associated with prematurity, despite other pregnancy conditions. Women who are pregnant with triplets and at risk of preterm labor and those taking tocolytics ± glucocorticoids may benefit from pessary insertion.


Assuntos
Trabalho de Parto Prematuro , Gravidez de Trigêmeos , Nascimento Prematuro , Tocolíticos , Gravidez , Recém-Nascido , Feminino , Humanos , Nascimento Prematuro/prevenção & controle , Estudos Retrospectivos , Pessários , Estudos de Casos e Controles , Colo do Útero
8.
Reprod Biomed Online ; 48(2): 103419, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38194878

RESUMO

RESEARCH QUESTION: Is there a difference in maternal, fetal, obstetric and neonatal outcomes for triplet pregnancies when comparing in vivo conceptions with those conceived by assisted reproductive technology (ART)? DESIGN: This single-centre, retrospective cohort study included all triplet pregnancies followed up at La Paz University Hospital, Madrid between 2000 and 2022. The characteristics of the pregnant women, and maternal, fetal, obstetric and perinatal outcomes were examined. Univariate and multivariate statistical analyses were performed. RESULTS: In total, 234 triplet pregnancies were analysed: 92 in the natural and assisted insemination conception group (in-vivo conception) and 142 in the in vitro fertilization and intracytoplasmic sperm injection conception group (ART conception). ART triplet pregnancies were more common between 2000 and 2010 (P = 0.003). The percentage of monochorionic triamniotic pregnancies was significantly higher (P = 0.02) in the in-vivo conception group, and the percentage of dichorionic triamniotic pregnancies was significantly higher (P = 0.003) in the ART conception group. After adjusting for confounders, intrauterine growth restriction (IUGR) remained significantly more common in the ART conception group (adjusted odds ratio 8.65, 95% CI 1.66-45.03; P = 0.01). Differences in maternal age (P = 0.61), threatened preterm labour (P = 0.10), Apgar score ≤5 at 5 min (P = 0.99), umbilical cord pH <7.20 (P = 0.99) and fetal death (P = 0.99) disappeared after adjustment for confounders. CONCLUSION: ART triplet pregnancies had a higher rate of IUGR than in vivo triplet pregnancies. This could be related to higher maternal age, and higher rates of Apgar score ≤5 at 5 min and umbilical cord pH <7.20 in these pregnancies. In these cases, placental examination could provide valuable information.


Assuntos
Gravidez de Trigêmeos , Injeções de Esperma Intracitoplásmicas , Recém-Nascido , Gravidez , Feminino , Masculino , Humanos , Estudos Retrospectivos , Placenta , Sêmen , Técnicas de Reprodução Assistida , Fertilização in vitro , Resultado da Gravidez/epidemiologia
9.
Front Microbiol ; 14: 1250806, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38075858

RESUMO

The human microbiome has become an area of intense research due to its potential impact on human health. However, the analysis and interpretation of this data have proven to be challenging due to its complexity and high dimensionality. Machine learning (ML) algorithms can process vast amounts of data to uncover informative patterns and relationships within the data, even with limited prior knowledge. Therefore, there has been a rapid growth in the development of software specifically designed for the analysis and interpretation of microbiome data using ML techniques. These software incorporate a wide range of ML algorithms for clustering, classification, regression, or feature selection, to identify microbial patterns and relationships within the data and generate predictive models. This rapid development with a constant need for new developments and integration of new features require efforts into compile, catalog and classify these tools to create infrastructures and services with easy, transparent, and trustable standards. Here we review the state-of-the-art for ML tools applied in human microbiome studies, performed as part of the COST Action ML4Microbiome activities. This scoping review focuses on ML based software and framework resources currently available for the analysis of microbiome data in humans. The aim is to support microbiologists and biomedical scientists to go deeper into specialized resources that integrate ML techniques and facilitate future benchmarking to create standards for the analysis of microbiome data. The software resources are organized based on the type of analysis they were developed for and the ML techniques they implement. A description of each software with examples of usage is provided including comments about pitfalls and lacks in the usage of software based on ML methods in relation to microbiome data that need to be considered by developers and users. This review represents an extensive compilation to date, offering valuable insights and guidance for researchers interested in leveraging ML approaches for microbiome analysis.

10.
Front Oncol ; 13: 1155244, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37588099

RESUMO

Background and objective: Neoadjuvant chemotherapy (NAC) followed by cystectomy is the standard of care in muscle-invasive bladder cancer (MIBC). Pathological response has been associated with longer survival, but no currently available clinicopathological variables can identify patients likely to respond, highlighting the need for predictive biomarkers. We sought to identify a predictive signature of response to NAC integrating clinical score, taxonomic subtype, and gene expression. Material and methods: From 1994 to 2014, pre-treatment tumor samples were collected from MIBC patients (stage T2-4N0/+M0) at two Spanish hospitals. A clinical score was determined based on stage, hydronephrosis and histology. Taxonomic subtypes (BASQ, luminal, and mixed) were identified by immunohistochemistry. A custom set of 41 genes involved in DNA damage repair and immune response was analyzed in 84 patients with the NanoString nCounter platform. Genes related to pathological response were identified by LASSO penalized logistic regression. NAC consisted of cisplatin/methotrexate/vinblastine until 2000, after which most patients received cisplatin/gemcitabine. The capacity of the integrated signature to predict pathological response was assessed with AUC. Overall survival (OS) and disease-specific survival (DSS) were analyzed with the Kaplan-Meier method. Results: LASSO selected eight genes to be included in the signature (RAD51, IFNγ, CHEK1, CXCL9, c-MET, KRT14, HERC2, FOXA1). The highest predictive accuracy was observed with the inclusion in the model of only three genes (RAD51, IFNɣ, CHEK1). The integrated clinical-taxonomic-gene expression signature including these three genes had a higher predictive ability (AUC=0.71) than only clinical score plus taxonomic subtype (AUC=0.58) or clinical score alone (AUC=0.56). This integrated signature was also significantly associated with OS (p=0.02) and DSS (p=0.02). Conclusions: We have identified a predictive signature for response to NAC in MIBC patients that integrates the expression of three genes with clinicopathological characteristics and taxonomic subtypes. Prospective studies to validate these results are ongoing.

11.
BMC Bioinformatics ; 24(1): 82, 2023 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-36879227

RESUMO

BACKGROUND: One of the main challenges of microbiome analysis is its compositional nature that if ignored can lead to spurious results. Addressing the compositional structure of microbiome data is particularly critical in longitudinal studies where abundances measured at different times can correspond to different sub-compositions. RESULTS: We developed coda4microbiome, a new R package for analyzing microbiome data within the Compositional Data Analysis (CoDA) framework in both, cross-sectional and longitudinal studies. The aim of coda4microbiome is prediction, more specifically, the method is designed to identify a model (microbial signature) containing the minimum number of features with the maximum predictive power. The algorithm relies on the analysis of log-ratios between pairs of components and variable selection is addressed through penalized regression on the "all-pairs log-ratio model", the model containing all possible pairwise log-ratios. For longitudinal data, the algorithm infers dynamic microbial signatures by performing penalized regression over the summary of the log-ratio trajectories (the area under these trajectories). In both, cross-sectional and longitudinal studies, the inferred microbial signature is expressed as the (weighted) balance between two groups of taxa, those that contribute positively to the microbial signature and those that contribute negatively. The package provides several graphical representations that facilitate the interpretation of the analysis and the identified microbial signatures. We illustrate the new method with data from a Crohn's disease study (cross-sectional data) and on the developing microbiome of infants (longitudinal data). CONCLUSIONS: coda4microbiome is a new algorithm for identification of microbial signatures in both, cross-sectional and longitudinal studies. The algorithm is implemented as an R package that is available at CRAN ( https://cran.r-project.org/web/packages/coda4microbiome/ ) and is accompanied with a vignette with a detailed description of the functions. The website of the project contains several tutorials: https://malucalle.github.io/coda4microbiome/.


Assuntos
Algoritmos , Microbiota , Lactente , Humanos , Estudos Transversais , Análise de Dados , Estudos Longitudinais
12.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 50(1): 100798-100798, Ene-Mar. 2023. ilus
Artigo em Inglês | IBECS | ID: ibc-214988

RESUMO

Introducción: El herpes gestationis (HG) es una de las principales dermatosis del embarazo que debe ser reconocida y tratada oportunamente ya que se relaciona con un empeoramiento del pronóstico fetal. Aunque se ha investigado la afectación cutánea, hay escasez de estudios morfológicos y funcionales de la placenta en esta patología. Principales síntomas o hallazgos clínicos: Erupción vesicular eritematosa a las 32+1 semanas de gestación. Diagnósticos principales: HG. Intervenciones terapéuticas y resultados: Inmunogammaglobulina en casos graves refractarios a los corticoides por vía oral con desaparición completa de las lesiones. Conclusión: Hasta donde sabemos, este es el primer caso que reporta un análisis detallado de los depósitos de IgG y C3 en la membrana basal de las vellosidades de la placenta mediante un estudio de inmunofluorescencia. Estos hallazgos podrían relacionarse con el ligero mal funcionamiento de la placenta que puede explicar los efectos neonatales adversos.(AU)


Introduction: Pemphigoid gestationis (PG) is one of the main dermatoses of pregnancy that must be recognized and treated promptly, since it is related to worsening of foetal prognosis. Although skin involvement has been investigated, there is a lack of morphological and functional studies of the placenta in this pathology. Main symptoms and/or clinical findings: Erythematous vesicular rash at 32+1 weeks of gestation. Main diagnoses: PG. Therapeutic interventions and results: Immunogammaglobulin in severe cases refractory to oral corticosteroids with complete disappearance of the lesions. Conclusion: To our knowledge, this is the first case to report a detailed analysis of IgG and C3 deposits in the basement membrane of the placental villi by means of an immunofluorescence study. These findings could be related to a slight malfunction of the placenta that may explain the adverse neonatal effects.(AU)


Assuntos
Humanos , Feminino , Gravidez , Imunofluorescência , Placenta , Penfigoide Gestacional , Autoimunidade , Corticosteroides , Ginecologia , Obstetrícia
13.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 49(4): 100770-100770, Oct-Dic. 2022. tab
Artigo em Inglês | IBECS | ID: ibc-211838

RESUMO

Introduction: Multiple and specifically monochorionic diamniotic (MCDA) pregnancies are related to maternal and foetal complications. The aim of this study is to evaluate obstetric and perinatal outcomes of MCDA after assisted reproductive techniques (ART). Methods: This is a case-control study comparing 23 MCDA twin pregnancies after ART (ART-MCDA) and 75 spontaneous MCDA (sMCDA). Maternal, obstetric, foetal, and perinatal outcomes variables including maternal age, prematurity, TTTS, sIUGR, TAPS, PROM, and neonatal weight were compared. Results: mean maternal age is higher in the ART-MCDA pregnancies, 38.0±.6 (OR=1.32(1.13–1.53)). Neonates weighing between 1500 and 2500g are more frequent in the sMCDA group and those weighing >2500g in the ART group (OR=0.47(0.22–0.97)). Foetuses born at between 32 and 37 weeks are more frequent in sMCDA pregnancies and those born >37 in the TRA group (OR=0.27(0.09–0.80)). These differences are lost when we adjust the results by maternal age. There were no differences in maternal, obstetric, or foetal complications. Conclusions: ART-MCDA are not associated with a higher number of maternal, obstetric or foetal complications if they are adjusted by maternal age. When they are not adjusted by maternal age, there would be better outcomes such as premature and neonatal weight in the ART group.(AU)


Antecedentes: El incremento de las técnicas de reproducción asistida (TRA) ha supuesto un aumento de las gestaciones gemelares en general, pero también de las monocoriales biamnióticas (MCBA), que se asocian a diversas complicaciones maternofetales. Estas complicaciones están bien estudiadas en gestaciones espontáneas, pero no en aquellas conseguidas mediante una TRA. Objetivo: Comparar la incidencia de complicaciones maternas, fetales, obstétricas y perinatales en gestaciones MCBA conseguidas de forma espontánea frente a aquellas conseguidas mediante TRA. Materiales y métodos: Estudio de casos-controles retrospectivo. Se han analizado 98 gestaciones gemelares MCBA controladas en la Unidad de Medicina Materno-Fetal del Servicio de Obstetricia del Hospital La Paz de Madrid entre los años 2015 y 2020. Resultados: La media de edad de las madres de las gestaciones MCBA conseguidas mediante TRA es mayor (OR=1,32 [1,13-1,53]). Los recién nacidos de peso entre 1.500-2.500g son más frecuentes en las gestaciones MCBA conseguidas de forma espontánea y los de >2.500g en las de TRA (OR=0,47 [0,22–0,97]). Los recién nacidos entre las 32-37 semanas son más frecuentes en las gestaciones gemelares MCBA espontáneas y los recién nacidos de >37 semanas en las de TRA (OR=0,27 [0,09-0,80]). Cuando estos resultados se ajustan por la edad materna dejan de ser estadísticamente significativos. Conclusiones: Las TRA no conllevan un aumento de las complicaciones en las gestaciones MCBA cuando se ajustan los resultados por la edad materna. Si no se ajustasen por la edad materna, las gestaciones MCBA conseguidas mediante TRA tendrían mejores resultados, con menos prematuridad y mayor peso del neonato.(AU)


Assuntos
Humanos , Feminino , Técnicas Reprodutivas , Gêmeos
14.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 49(4): 100785-100785, Oct-Dic. 2022. tab
Artigo em Inglês | IBECS | ID: ibc-211841

RESUMO

Objectives: The aim of our study is to evaluate the impact of the introduction of a maneuverable vacuum extractor cup on the length of hospital stay after assisted vaginal birth in nulliparous women in a hospital where no vacuum devices were used. Methods: This single center retrospective analytical study included two groups of nulliparous women who had undergone an assisted vaginal birth. The 2 groups differ according to the availability or not of a maneuverable vacuum extractor cup. The first group includes the last 54 instrumental births until May 2017, when only obstetric forceps and Thierry's spatulas were available in our center; the second group includes the first 54 instrumental births since May 2018 in our center, when obstetric forceps, Thierry's spatulas and maneuverable vacuum extractor cup were available. Maneuverable vacuum extractor cups had been available for 12 months in the second group. Results: In the no vacuum cup group, Kjelland forceps and Thierry's spatulas were used in 29 (53.7%) and 25 (46.3%) of the 54 assisted vaginal births, respectively. In the vacuum available group, a vacuum cup was chosen in 30 (55.6%), Kjelland forceps were used in 18 (33.3%) and Thierry's spatulas in 6 (11.1%) of the assisted vaginal births. 22 women (40.7%) had a postpartum hospital stay longer than 3 days in the group with no maneuverable vacuum extractor cup availability, versus 3 women (5.6%) in the group with availability of a maneuverable vacuum extractor cup, p<0.001. Average postpartum hospital stay length was 3.17±0.803 days versus 2.81±0.585, p<0.001. There was also a significant reduction in the number of episiotomies. Conclusion: The introduction of a maneuverable vacuum extractor cup in a center where only forceps and Thierry's spatulas had been used resulted in a decrease in postpartum hospital stay in nulliparous women.(AU)


Objetivos: El objetivo de nuestro estudio es evaluar el impacto de la introducción de una ventosa obstétrica con cazoleta maniobrable en la duración de la estancia hospitalaria tras parto instrumental en mujeres nulíparas en un hospital donde no se utilizaban ventosas obstétricas. Métodos: Este estudio de cohortes retrospectivo unicéntrico incluyó 2 grupos de mujeres nulíparas sometidas a parto instrumental. Los 2 grupos se diferencian según la disponibilidad o no de ventosa obstétrica en el centro. El primer grupo se compone de las últimas 54 mujeres a las que se les asistió un parto instrumental hasta mayo del 2017, cuando solo había disponibilidad de fórceps obstétricos y espátulas de Thierry en nuestro centro; el segundo grupo se compone de las primeras 54 mujeres a las que se les asistió un parto instrumental desde mayo del 2018 en nuestro centro, cuando había disponibilidad de fórceps obstétricos, de espátulas de Thierry y de ventosa obstétrica con cazoleta maniobrable (esta última desde hacía 12 meses). Resultados: En el grupo sin disponibilidad de ventosa obstétrica, se utilizaron fórceps de Kjelland y espátulas de Thierry en 29 (53,7%) y 25 (46,3%) de los 54 partos instrumentales, respectivamente. En el grupo con disponibilidad de ventosa, se usó la ventosa en 30 (55,6%), fórceps de Kjelland en 18 (33,3%) y espátulas de Thierry en 6 (11,1%) de los partos instrumentales; 22 mujeres (40,7%) tuvieron una estancia hospitalaria tras el parto mayor de 3 días en el grupo sin disponibilidad de ventosa, frente a 3 mujeres (5,6%) en el grupo con disponibilidad de ventosa, p<0,001. La duración media de la estancia hospitalaria tras el parto fue de 3,17±0,803 días frente a 2,81±0,585, p<0,001. También hubo una reducción significativa en el número de episiotomías.(AU)


Assuntos
Humanos , Feminino , Período Pós-Parto , Forceps Obstétrico , Hospitalização , Vácuo-Extração/efeitos adversos , Vácuo-Extração/métodos , Vácuo-Extração/estatística & dados numéricos , Ginecologia , Obstetrícia , Unidade Hospitalar de Ginecologia e Obstetrícia , Complicações na Gravidez , Estudos de Coortes , Estudos Retrospectivos
15.
Radiologia (Engl Ed) ; 64(4): 348-367, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36030082

RESUMO

Pheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is the radiologist who first suggests the diagnosis, indicating analyses for catecholamines or nuclear medicine examinations. Radiologists should suspect a pheochromocytoma on detection of a well-delimited adrenal mass with rapid, intense enhancement that typically shows cystic and hemorrhagic phenomena, high T2 signal intensity, and the absence of macroscopic or microscopic lipids. The behavior in diffusion-weighted imaging usually does not provide very useful information. Approximately one-third of lesions show late washout similar to that seen with adenomas on CT. Percutaneous puncture should be avoided to avoid the risk of unleashing a severe hypertensive crisis.


Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Doença de von Hippel-Lindau , Humanos , Síndrome
17.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 49(1): 1-8, Enero-Marzo, 2022. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-203202

RESUMO

IntroducciónEl porcentaje de gestantes infectadas por VIH que demandan embarazo ha aumentado en los países desarrollados debido a la estabilidad de la infección y la disminución de la transmisión vertical por los tratamientos antirretrovirales (TAR) y las medidas preventivas. Sin embargo, existe poca información respecto al efecto del TAR sobre el embarazo.MétodosEstudio retrospectivo de las gestantes infectadas por VIH con TAR controladas en el Hospital La Paz entre los años 2000-2017. Se estudiaron las complicaciones maternofetales.ResultadosSe recogieron 141 gestaciones en 112 mujeres infectadas por VIH. El TAR más utilizado fue la combinación de 2 inhibidores de la transcriptasa inversa análogos nucleosídicos+1 inhibidor de la proteasa (58,1%), con diferencias significativas entre los distintos tratamientos en cuanto a la carga viral plasmática, siendo indetectable en mayor medida con 2 inhibidores de la transcriptasa inversa análogos nucleosídicos +1 inhibidor de la transcriptasa inversa no nucleosídico, segunda pauta más utilizada. Las tasas de neonatos a término de bajo peso (<2.500g) (11,3%), partos pretérmino (11,1%) y rotura prematura de membranas pretérmino (5,6%) fueron mayores que en la población general. Aunque no hubo asociación, estas complicaciones fueron más frecuentes en gestantes con un inhibidor de la proteasa/ritonavir. No se relacionaron con la carga viral plasmática. No se encontró aumento en la tasa de interrupciones gestacionales, malformaciones ni diabetes gestacional.ConclusiónEn las gestantes infectadas por VIH con TAR está aumentada la tasa de neonatos a término de bajo peso, prematuridad y rotura prematura de membranas pretérmino en comparación con la población general, relacionándose especialmente con el tratamiento con un inhibidor de la proteasa, aunque sin asociación significativa.


IntroductionThe percentage of HIV-infected pregnant women seeking pregnancy has increased in developed countries due to the stability of the infection and the decrease in vertical transmission due to antiretroviral treatment (ART) and preventive measures. However, there is little information regarding the effect of ART on pregnancy.MethodsRetrospective study of HIV-infected pregnant women on ART monitored at Hospital La Paz between 2000-2017. Maternal-foetal complications were studied.ResultsOne hundred and forty-one gestations were collected in 112 HIV-infected women. The most commonly used ART was the combination of 2 nucleoside reverse transcriptase inhibitor analogues+1 protease inhibitor (58.1%), with significant differences between the different treatments in terms of plasma viral load being undetectable to a greater extent with 2 nucleoside reverse transcriptase inhibitor analogues+1 non-nucleoside reverse transcriptase inhibitor, the second most used regimen. The rates of low birth weight (<2,500g) term neonates (11.3%), preterm delivery (11.1%) and preterm premature rupture of membranes (5.6%) were higher than in the general population. Although there was no association, these complications were more frequent in pregnant women with a protease inhibitor/ritonavir. They were not related to plasma viral load. No increase in the rate of gestational terminations, malformations or gestational diabetes was found.ConclusionHIV-infected pregnant women on ART have an increased rate of low birth weight, prematurity, and preterm premature rupture of membranes at term compared to the general population, especially related to treatment with protease inhibitor, although without significant association.


Assuntos
Feminino , Gravidez , Ciências da Saúde , Terapia Antirretroviral de Alta Atividade , HIV , Gestantes , Ginecologia , Gravidez
18.
Int J Obes (Lond) ; 46(1): 30-38, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34471225

RESUMO

BACKGROUND: Functional connectivity alterations in the lateral and medial hypothalamic networks have been associated with the development and maintenance of obesity, but the possible impact on the structural properties of these networks remains largely unexplored. Also, obesity-related gut dysbiosis may delineate specific hypothalamic alterations within obese conditions. We aim to assess the effects of obesity, and obesity and gut-dysbiosis on the structural covariance differences in hypothalamic networks, executive functioning, and depressive symptoms. METHODS: Medial (MH) and lateral (LH) hypothalamic structural covariance alterations were identified in 57 subjects with obesity compared to 47 subjects without obesity. Gut dysbiosis in the subjects with obesity was defined by the presence of high (n = 28) and low (n = 29) values in a BMI-associated microbial signature, and posthoc comparisons between these groups were used as a proxy to explore the role of obesity-related gut dysbiosis on the hypothalamic measurements, executive function, and depressive symptoms. RESULTS: Structural covariance alterations between the MH and the striatum, lateral prefrontal, cingulate, insula, and temporal cortices are congruent with previously functional connectivity disruptions in obesity conditions. MH structural covariance decreases encompassed postcentral parietal cortices in the subjects with obesity and gut-dysbiosis, but increases with subcortical nuclei involved in the coding food-related hedonic information in the subjects with obesity without gut-dysbiosis. Alterations for the structural covariance of the LH in the subjects with obesity and gut-dysbiosis encompassed increases with frontolimbic networks, but decreases with the lateral orbitofrontal cortex in the subjects with obesity without gut-dysbiosis. Subjects with obesity and gut dysbiosis showed higher executive dysfunction and depressive symptoms. CONCLUSIONS: Obesity-related gut dysbiosis is linked to specific structural covariance alterations in hypothalamic networks relevant to the integration of somatic-visceral information, and emotion regulation.


Assuntos
Disbiose/complicações , Doenças Hipotalâmicas/etiologia , Vias Neurais/fisiologia , Obesidade/complicações , Obesidade/fisiopatologia , Adulto , Índice de Massa Corporal , Estudos Transversais , Disbiose/fisiopatologia , Feminino , Humanos , Hipotálamo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Vias Neurais/anormalidades
19.
Front Physiol ; 13: 1099276, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36733695

RESUMO

Sexual (and gender)-dimorphism in tolerance to hypobaric hypoxia increasingly matters for a differential surveillance of human activities at high altitude (HA). At low altitudes, the prevalence of anxiety and depression in women has already been found to double when compared with men; it could be expected to even increase on exposure to HA. In purposefully caring for the health of women at HA, the present work explores the potential involvement of the tryptophan (Trp)-melatonin axis in mood changes on exposure to hypobaric hypoxia. The present work highlights some already known anxiogenic effects of HA exposure. Hypoxia and insomnia reduce serotonin (5-HT) availability; the latter defect being expressed as failure of brown adipose tissue (BAT) activation and mood disorders. Rapid eye movement (REM) sleep organization and synapsis restoration that are additionally affected by hypoxia impair memory consolidation. Affective complaints may thus surge, evolving into anxiety and depression. Sex-related differences in neural network organization and hormonal changes during the menstrual cycle, and certainly also during the life cycle, underscore the possibility of 5-HT-related mood alterations, particularly in women on HA exposure. The mean brain rate of 5-HT synthesis at sea level is already 1.5-fold higher in males than in females. sexual dimorphism also evidences the overexpression effects of SERT, a 5-HT transporter protein. Gonadal and thyroid hormones, as influenced by HA exposure, further modulate 5-HT availability and its effects in women. Besides caring for adequate oxygenation and maintenance of one's body core temperature, special precautions concerning women sojourning at HA should include close observations of hormonal cycles and, perhaps, also trials with targeted antidepressants.

20.
Rev. patol. respir ; 24(4): 117-119, oct. - dic. 2021. graf
Artigo em Espanhol | IBECS | ID: ibc-228428

RESUMO

La neumonía COVID ha supuesto un reto para la Neumología que ha respondido de forma rápida y con resultados muy satisfactorios a la demanda de soporte ventilatorio no invasivo que esta enfermedad y sobre todo la sobrecarga en las Unidades de Cuidados Intensivos ha ocasionado. En el caso de la Comunidad Autónoma de Madrid (CAM), la mayoría de los centros hospitalarios ampliaron o implantaron los recursos que facilitaron el uso de esta terapia para miles de pacientes que de otro modo no hubieran tenido la oportunidad de mejorar su situación respiratoria. Mediante este artículo queremos dar a conocer la visión global de esta intervención en 14 centros de la red de hospitales de la CAM (AU)


COVID pneumonia has been a challenge for Pulmonology that has responded quickly and with very satisfactory results to the demand for non-invasive ventilatory support that this disease and especially the overload in Intensive Care Units has caused. In the case of the Autonomous Community of Madrid (CAM), most hospitals expanded or implemented the resources that facilitated the use of this therapy for thousands of patients who otherwise would not have had the opportunity to improve their respiratory situation. Through this article we want to present the global vision of this intervention in 14 centers of the CAM network of hospitals (AU)


Assuntos
Humanos , /epidemiologia , /terapia , Respiração Artificial , Espanha/epidemiologia
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