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1.
Theriogenology ; 226: 243-252, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38943899

RESUMO

This study examined how the vitrification of pig blastocysts using either the superfine open pulled straw (SOPS) or Cryotop method affects the expression profile of embryonic microRNA (miRNA) transcriptomes, as well as its relation to changes in the expression of target genes (TGs). Surgically collected pig blastocysts were vitrified using either the SOPS method (n = 60; 4-6 embryos/device) or the Cryotop system (n = 60; 20 embryos/device). Embryos were cultured in vitro for 24 h after warming. Fresh blastocysts (n = 60) cultured for 24 h served as controls. After in vitro culture, five pools of eight viable blastocysts from each group were prepared for miRNA expression analysis based on a microarray approach. Then, biological interpretation of miRNAs profiles and integrative analysis of miRNA and mRNA transcriptome data were performed. Survival after 24 h of in vitro culture was similar (>96 %) for both the vitrification systems and the control group (100 %). Compared with the controls, the SOPS-vitrified blastocysts had 94 (one upregulated and 93 downregulated) differentially expressed (DE) miRNAs, and the Cryotop-vitrified blastocysts had 174 DE miRNAs (one upregulated and 173 downregulated). One DE miRNA (miR-503) in the SOPS group and three DE miRNAs (miR-7139-3p, miR-214 and miR-885-3p) in the Cryotop group were annotated for Sus scrofa. The integrative analysis showed that 27 and 61 DE TGs were regulated by the DE miRNAs in blastocysts vitrified with the SOPS and Cryotop systems, respectively. The TGs enriched one pathway (the TGF-ß signaling pathway) for the SOPS system and four pathways (HIF-1, Notch, ascorbate and aldarate metabolism and glycosphingolipid biosynthesis-ganglio series) for the Cryotop system. In summary, vitrification via the SOPS and Cryotop systems dysregulates miRNAs, with slight differences between methods. The altered miRNAs identified in this study were related mainly to cell proliferation, apoptosis, and the response to cell stress. Further studies are needed to clarify the consequences of dysregulation of miRNAs involved in the TGF-ß (SOPS-vitrified blastocyst) and Notch (Cryotop-vitrified blastocyst) signaling pathways, particularly if they can affect embryonic development.

2.
Eur J Clin Invest ; : e14258, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38828496

RESUMO

BACKGROUND: The effectiveness of statin treatment to reduce coronary events and mortality has been hardly examined considering goals of LDL-C. We aimed to analyse such association in secondary cardiovascular prevention. METHODS: Retrospective cohort analysis of electronic health records from the SIDIAP database, Catalonia-Spain. Recruitment period was from 2006 to 2017 and study period finished at the end of 2018. We included 54,175 people aged ≥35 years in cardiovascular secondary prevention starting statin treatment. We analysed the association of achieved LDL-C goals after statin initiation with coronary heart disease and all-cause mortality. RESULTS: Mean age was 69 years and 20,146 (37.2%) were women. Coronary heart disease occurred in 5687 (10.5%) participants, and 10,676 (19.7%) persons passed away. Median follow-up lasted 5.7 years (interquartile range, 3.4-8.1). The coronary heart disease HRs (95% CI) for the LDL-C goals of 70-100, <70-55 and <55 mg/dL were .86 (.81-.92), .83 (.76-.9) and .8 (.72-.88), respectively. They were .89 (.83-.96) in the group with 30%-40% reduction and .86 (.8-.93) in the groups with 40%-50% and ≥50% reduction. We observed no association with mortality. We observed no relevant differences by sex or age. CONCLUSIONS: This population-level retrospective analysis of real-world data observed that treatment with statins is effective to achieve certain LDL-C goals and CHD reduction. The lack of significant difference between LDL-C goals needs confirmation in additional studies with real-world data. The LDL-C target should consider the magnitude of the decrease in coronary events.

3.
Foods ; 13(11)2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38890879

RESUMO

Algae are a booming resource in the food industry due to their several health benefits. This study assesses the impact of the combined use of selected macro- and microalgae to improve the nutritional profile and the labeling of a vegetable cream by the introduction of nutrition and health claims. As macroalgae, two Ascophyllum nodosum L., one natural (An) and one smoked (AnS), were selected for their high iodine concentration and flavor notes. A new strain of Chlorella vulgaris, golden (CvG), was selected as the microalgae, which is rich in proteins and has a neutral sensorial profile (golden color and mild flavor). In this study, two vegetable creams were compared. The control (CTRL) versus one enriched with a mixture of macroalgae and microalgae (CV-AN). Sensory, physicochemical, and functional properties of both vegetable creams were evaluated. The bioactivity assessed was the effect of iodine as a health claim and antioxidant and antihypertensive properties. CV-AN vegetable cream showed significantly higher values (p < 0.05) for protein content, iodine value, and antioxidant activity, with no significant differences (p > 0.05) in antihypertensive activity or sensory panel. The incorporation of these algae resulted in a vegetable cream with a better nutritional profile and sensory acceptability comparable to the control, offering protein and iodine source claims in the labeling.

4.
Healthcare (Basel) ; 12(11)2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38891129

RESUMO

Population aging is causing increases in the numbers of chronic diseases, with the consequent need for changes in health systems to better assist patients with chronic conditions. A narrative review was conducted in this study with the objective of analysing the scientific evidence on the care and assistance provided by Case Management Nurses (CMNs) to chronic patients in primary healthcare. A total of 15 articles published in English, Spanish, and Portuguese were selected in the following databases: PubMed, Embase, Cochrane Library, Scopus, Dialnet, Cinahl, and Web of Science. In total, 46.6% of the studies showed the assistance provided by CMNs for chronic pathologies. Most of the articles selected (80%) considered that the assistance offered by case management nurses in relation to chronic diseases is effective, enabling cost reductions, which supposes benefits at the economic and political levels. It was concluded that CMNs have proven to be efficient in caring for people with chronic diseases, improving the quality of life of these people and their caregivers; therefore, they have a fundamental role in the PHC.

5.
Food Microbiol ; 122: 104554, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38839220

RESUMO

Challenge tests are commonly employed to evaluate the growth behavior of L. monocytogenes in food matrices; they are known for being expensive and time-consuming. An alternative could be the use of predictive models to forecast microbial behavior under different conditions. In this study, the growth behavior of L. monocytogenes in different fresh produce was evaluated using a predictive model based on the Gamma concept considering pH, water activity (aw), and temperature as input factors. An extensive literature search resulted in a total of 105 research articles selected to collect growth/no growth behavior data of L. monocytogenes. Up to 808 L. monocytogenes behavior values and physicochemical characteristics were extracted for different fruits and vegetables. The predictive performance of the model as a tool for identifying the produce commodities supporting the growth of L. monocytogenes was proved by comparing with the experimental data collected from the literature. The model provided satisfactory predictions on the behavior of L. monocytogenes in vegetables (>80% agreement with experimental observations). For leafy greens, a 90% agreement was achieved. In contrast, the performance of the Gamma model was less satisfactory for fruits, as it tends to overestimate the potential of acid commodities to inhibit the growth of L. monocytogenes.


Assuntos
Microbiologia de Alimentos , Frutas , Listeria monocytogenes , Verduras , Listeria monocytogenes/crescimento & desenvolvimento , Verduras/microbiologia , Verduras/crescimento & desenvolvimento , Frutas/microbiologia , Concentração de Íons de Hidrogênio , Temperatura , Modelos Biológicos , Água/metabolismo , Contagem de Colônia Microbiana , Contaminação de Alimentos/análise
6.
Medicina (B Aires) ; 84(3): 505-515, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38907965

RESUMO

INTRODUCTION: Sellar metastases (SM) are rare manifestations of malignancy. Breast and lung cancer are the most common primary tumors. Most cases are diagnosed in patients with advanced malignant disease; however, symptoms of pituitary involvement can precede the diagnosis of the primary tumor. METHODS: Retrospective analysis of symptoms at presentation, hormonal, radiological and histological findings, management, and outcome of patients with SM from 2009 to 2020. RESULTS: Eighteen patients'cases were included, 11 with histological confirmation. Median (m) age was 53 years (range 35-75), 53% male. Primary malignant tumors: 8 lungs, 6 breast, 1 follicular thyroid carcinoma, 1 Hodgkin lymphoma, and 2 clear cell renal carcinomas. The m time between the diagnosis of the primary neoplasm and the occurrence of the SM was 108 months (range: 11-180). In 8 patients the diagnosis of the primary neoplasm was made after the finding of the symptomatic sellar mass. Insipidus diabetes, adenohypophysis deficit, visual disorders, headache, and cranial nerve deficits were evident in 78, 77, 61, 39 and 39% of the cases, respectively. Fifteen patients harbored supra / parasellar masses, in three a lesion was limited to the pituitary gland, and stalk. Eleven out of 18 (61.1%) of the patients were operated on by the trans-sphenoidal approach, for diagnostic and / or decompressive purposes. Eighteen died, with a median survival time of 6 months (1-36). DISCUSSION: In the presence of a pituitary lesion with diffuse gadolinium uptake, associated with insipidus diabetes and / or visual disorder SM should be suspected even in patients without a history of oncological disease.


Introducción: La región selar es un sitio infrecuente de metástasis, encontrándose en el 1% de las cirugías hipofisarias. Los tumores primarios más habituales son mama y pulmón. En general son diagnosticadas en pacientes con enfermedad avanzada, aunque pueden ser el debut de la enfermedad oncológica. Métodos: Análisis retrospectivo de las características clínicas, bioquímicas, radiológicas de pacientes con metástasis selares o hipofisarias (MS) durante el periodo 2009-2020. Resultados: Se reportaron 18 casos de pacientes, 11 de ellos con confirmación histológica. La mediana de edad fue 53 años (rango: 35-75), 53% hombres. La localización del tumor primario fue: 8 pulmón, 6 mama, 1 carcinoma folicular de tiroides, 1 linfoma Hodgkin y 2 carcinomas renales de células claras. La media de tiempo entre el diagnóstico del tumor primario y la aparición de la MS -en los casos de presentación metacrónica- fue 108 meses (rango: 11-180). En 8 pacientes (44.4%), el diagnóstico de la neoplasia primaria se hizo a partir del hallazgo de la masa selar. Diabetes insípida, hipopituitarismo, trastornos visuales, oftalmoplejía y cefalea se presentaron en el 78, 77, 61, 39 y 39%, respectivamente. Quince pacientes presentaron masas con extensión supra/paraselar; y 3 lesión limitada a la hipófisis y tallo. Fueron operados 11/18 por vía transesfenoidal, para diagnóstico y/o descompresión. Fallecieron 17, con una mediana de sobrevida de 6 meses (1- 36). Discusión: La sospecha de MS debe estar presente ante una masa selar y supraselar con captación difusa del gadolinio, diabetes insípida, hipopituitarismo y/o disfunción visual, aun en pacientes sin antecedentes oncológicos.


Assuntos
Neoplasias Hipofisárias , Humanos , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Adulto , Estudos Retrospectivos , Neoplasias Hipofisárias/secundário , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/terapia , Imageamento por Ressonância Magnética
7.
Respir Res ; 25(1): 248, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38890699

RESUMO

BACKGROUND: The term "post-COVID-19 condition" refers to the symptomatology that appears between four to twelve weeks after Covid-19 infection. These symptoms can persist for weeks or even months, significantly diminishing the quality of life for affected individuals. The primary objective of this study was to assess the effectiveness of pulmonary rehabilitation programs and/or respiratory muscle training on respiratory sequelae in patients with post-COVID condition. METHODS: The literature search was conducted in the following databases: PubMed, PEDro, Embase, Cochrane, Scopus, and Web of Science. Randomized clinical trials were included in which participants were aged 18 years or older. Articles were excluded if at least one of the therapies did not involve pulmonary rehabilitation or respiratory muscle training, if the participants were COVID positive, if studies lacked results, and finally, if interventions were conducted without supervision or at home. This review only encompasses supervised non-virtual interventions. This study adheres to the PRISMA statement and has been registered in the PROSPERO database (CRD42023433843). RESULTS: The outcomes obtained in the included studies are assessed across the following variables: Exercise capacity using the 6-minute walk test, Dyspnea, fatigue, Pulmonary function, Maximum inspiratory pressure, and Quality of life. CONCLUSION: Despite the absence of a specific treatment at present, it was evident from this review that a well-structured pulmonary rehabilitation program that incorporates both aerobic and muscular strength exercises along with techniques and inspiratory muscle exercises was the most effective form of treatment.


Assuntos
Exercícios Respiratórios , COVID-19 , Humanos , COVID-19/reabilitação , Exercícios Respiratórios/métodos , Resultado do Tratamento , Músculos Respiratórios/fisiopatologia , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Tolerância ao Exercício/fisiologia , Síndrome de COVID-19 Pós-Aguda
8.
Sleep Med ; 119: 584-588, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38833943

RESUMO

INTRODUCTION: Exhaled nitric oxide fraction (FeNO) is employed for the diagnosis and phenotyping of asthma as an inflammatory biomarker of the airway. Limited evidence exists regarding its behavior in the presence of asthma and obstructive sleep apnea (OSA). Our objective was to determine whether FeNO levels are associated with the severity of OSA or the coexistence of asthma and OSA in residents at high altitudes. MATERIALS AND METHODS: Observational, analytical, cross-sectional study in children aged 5-16 years residing at 2600 m above sea level treated at a Sleep Study Center between 2019 and 2021. We conducted a medical history, polysomnogram, and measurement of FeNO levels. The children were categorized into four groups: OSA, asthma, asthma with OSA, and controls (without asthma or OSA). FeNO levels among the groups were compared using the Kruskal-Wallis test, and correlations were explored using the Spearman correlation coefficient. Analyses considered statistical significance at a two-tailed p-value <0.05. RESULTS: Among the 261 included children, 68 (26.1 %) had OSA, 42 (16.1 %) were diagnosed with asthma, 109 (41.8 %) had both asthma and OSA, and 42 (16.1 %) were controls. Their FeNO medians were 10 ppb, 18.5 ppb, 15 ppb, and 14 ppb, respectively, with no significant differences between the evaluated groups (p = 0.263). We found no correlation between FeNO and apnea-hypopnea index and obstructive apnea index even for the groups of patients with FeNO >20 ppb and FeNO >35 ppb (>75th percentile). In the adjusted model, a significant association was observed between asthma and FeNO levels. CONCLUSIONS: Our findings suggest that FeNO measurements in children would not allow establishing this biomarker as part of the diagnosis of OSA. However, these findings may be related to high altitude.


Assuntos
Altitude , Asma , Óxido Nítrico , Polissonografia , Apneia Obstrutiva do Sono , Humanos , Asma/diagnóstico , Asma/complicações , Estudos Transversais , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/metabolismo , Criança , Masculino , Feminino , Óxido Nítrico/análise , Óxido Nítrico/metabolismo , Pré-Escolar , Biomarcadores/metabolismo , Biomarcadores/análise , Adolescente , Testes Respiratórios , Expiração
9.
Artigo em Inglês | MEDLINE | ID: mdl-38924543

RESUMO

INTRODUCTION: This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies. MATERIAL AND METHODS: Data were obtained from pregnant women with a multiple pregnancy or a vanishing twin pregnancy at ≥10 weeks' gestation who requested self-financed cfDNA testing between May 2015 and December 2021. Those that had positive screening results had diagnostic confirmatory procedures after counseling and consent. The performance of screening of the cfDNA test was determined by calculating confirmation rate and combined false-positive rate (cFPR). RESULTS: Data from 292 women were included after exclusion of those lost to follow-up, with no-result on cfDNA testing, or had reductions. Of the 292 pregnancies, 10 (3.4%) were triplets, including no cases of trisomy 21 and trisomy 18; 249 (85.3%) were twins, including 3 cases of trisomy 21 and no cases of trisomy 18 and 13; and 33 (11.3%) were vanishing twins, including 3 cases of trisomy 21 and 1 case of trisomy 18. The median (IQR) maternal age was 34 years (31-37). For triplet pregnancies, the initial no-result rate was 10.3% (95% confidence interval [CI] 3.6-26.4), all with results after redraw. For twin pregnancies, the initial no-result rate was 12.9% (95% CI 9.6-17.0), and the no-result rate after redraw was 1.6% (95% CI 0.7-3.6). For vanishing twins, there were no cases with no-result. All triplets had low-risk cfDNA results. The confirmation rate for trisomy 21 was 100% with a FPR at 0% due to the small number of positive cases for twins. For vanishing twins, one high-risk case for trisomy 21 and the only high-risk case for trisomy 18 were confirmed with a cFPR of 8.3% (n = 2/24; 95% CI 2.3-25.9). CONCLUSIONS: cfDNA testing in twin pregnancies has sufficient screening performance for trisomy 21 but the number of affected cases for other conditions is limited to draw any meaningful conclusion. The use of cfDNA testing in triplet pregnancies and vanishing twins remains an area for further research.

10.
J Mol Med (Berl) ; 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38935130

RESUMO

The PD-1/PD-L1 axis is a complex signaling pathway that has an important role in the immune system cells. Programmed cell death protein 1 (PD-1) acts as an immune checkpoint on the T lymphocytes, B lymphocytes, natural killer (NK), macrophages, dendritic cells (DCs), monocytes, and myeloid cells. Its ligand, the programmed cell death 1 ligand (PD-L1), is expressed in the surface of the antigen-presenting cells (APCs). The binding of both promotes the downregulation of the T cell response to ensure the activation to prevent the onset of chronic immune inflammation. This axis in the tumor microenvironment (TME) performs a crucial role in the tumor progression and the escape of the tumor by neutralizing the immune system, the engagement of PD-L1 with PD-1 in the T cell causes dysfunctions, neutralization, and exhaustion, providing the tumor mass production. This review will provide a comprehensive overview of the functions of the PD-1/PD-L1 system in immune function, cancer, and the potential therapeutic implications of the PD-1/PD-L1 pathway for cancer management.

11.
Farm Hosp ; 2024 Jun 26.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38937161

RESUMO

OBJECTIVE: Respiratory diseases present a challenge for the healthcare system due to their prevalence and clinical impact. The aim of this study was to explore the current situation of hospital pharmacy in the field of respiratory diseases. METHOD: Observational, cross-sectional study, with a national scope, divided into 2 parts. In an initial phase, the activity and level of pharmaceutical care in respiratory diseases was evaluated through an online questionnaire using REDCap. The survey was addressed to department chiefs and consisted of 17 items, divided into 2 modules: general data and general activity. The second phase was open to hospital pharmacists, with the aim of exploring their opinion on care, training, and improvement needs. The number of items in this phase was 19, divided into 5 modules: general data, pharmaceutical care, competencies, training, and degree of satisfaction. RESULTS: In the first phase, 23 hospitals were included. Most of them (n=20) had a pharmacist in charge of respiratory diseases. However, a large proportion of them dedicated less than 40% of their working day to this activity. The pharmacist's activity occurred at the level of external patients (n=21), hospitalised patients (n=16), and secondarily in management (n=8). Integration is greater in pathologies such as asthma, IPF, pulmonary hypertension, and bronchiectasis. Participation in committees was present in 15 hospitals, with variability in pathologies and degree of involvement. In the second phase, 164 pharmacists participated, who considered pharmaceutical care in cystic fibrosis, asthma, and lung transplant as a priority. 51% considered integration to be adequate and 91% considered it necessary to implement prioritisation criteria. Professional competencies ranged from 6.5 to 6.9 out of 10 points. Only 45% of participants had received specific training in the last 4 years, indicating greater priority for asthma, pulmonary hypertension, and IPF. CONCLUSIONS: Most centers have pharmacists specialised in respiratory diseases. However, there is room for improvement in terms of subspecialisation, participation in multidisciplinary committees, implementation of prioritisation criteria, diversification in pathologies treated, as well as greater specific training in this area.

12.
Br J Clin Pharmacol ; 90(7): 1751-1755, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38770584

RESUMO

To our knowledge, no prior study has analysed a possible association between acetazolamide and pulmonary oedema. The aim of this study was to use data from the EudraVigilance to detect a safety signal for acetazolamide-induced pulmonary oedema. We performed a disproportionality analysis (case-noncase method), calculating reporting odds ratios (RORs) up to 22 February 2024. Among 11 684 208 spontaneous cases of adverse reactions registered in EudraVigilance, 38 275 were pulmonary oedemas. Acetazolamide was involved in 31 cases. In more than half of those cases, the patients received a single dose of acetazolamide after undergoing cataract surgery: latency was 10-90 min. Remarkably, there were five cases of positive rechallenge and six cases resulted in death. The ROR for acetazolamide was 3.63 (95% CI 2.55-5.17). Disproportionality was also observed in VigiBase®: ROR 4.44 (95% CI 3.34-5.90). Our study confirms a signal that suggests a risk of serious pulmonary oedema associated with acetazolamide.


Assuntos
Acetazolamida , Bases de Dados Factuais , Edema Pulmonar , Humanos , Acetazolamida/efeitos adversos , Edema Pulmonar/induzido quimicamente , Edema Pulmonar/epidemiologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Bases de Dados Factuais/estatística & dados numéricos , Sistemas de Notificação de Reações Adversas a Medicamentos/estatística & dados numéricos , Adulto , Inibidores da Anidrase Carbônica/efeitos adversos , Inibidores da Anidrase Carbônica/administração & dosagem , Farmacovigilância , Idoso de 80 Anos ou mais
13.
Molecules ; 29(10)2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38792132

RESUMO

In this study, different extraction methods and conditions were used for the extraction of antioxidants from brown macroalgae Fucus spiralis. The extraction methodologies used were ultrasound-assisted extraction (ultrasonic bath and ultrasonic probe), extraction with a vortex, extraction with an Ultra-Turrax® homogenizer, and high-pressure-assisted extraction. The extracts were analyzed for their total phenolic content (TPC) and their antioxidant activity, and evaluated through the 2,2-difenil-1-picrilhidrazil (DPPH) free radical scavenging method and ferric reducing antioxidant power (FRAP) assay. Ultrasonic probe-assisted extraction yielded the highest values of TPC (94.78-474.16 mg gallic acid equivalents/g extract). Regarding the antioxidant activity, vortex-assisted extraction gave the best DPPH results (IC50 1.89-16 µg/mL), while the highest FRAP results were obtained using the Ultra-Turrax® homogenizer (502.16-1188.81 µmol ascorbic acid equivalents/g extract). For each extraction method, response surface methodology was used to analyze the influence of the experimental conditions "extraction time" (t), "biomass/solvent ratio" (R), "solvent" (S, water % in water/ethanol mixture), and "pressure" (P) on TPC, DPPH, and FRAP of the F. spiralis extracts. In general, higher TPC content and higher antioxidant capacity (lower IC50 and higher FRAP) were obtained with higher R, t, and P, and lower S (higher ethanol %). The model regarding the combined effects of independent variables t, R, and S on the FRAP response values for vortex-assisted extractions best fitted the experimental data (R2 0.957), with optimal extraction conditions of t = 300 s, R = 50 g, and S = 25%.


Assuntos
Antioxidantes , Fucus , Fucus/química , Antioxidantes/química , Antioxidantes/farmacologia , Antioxidantes/isolamento & purificação , Fenóis/química , Fenóis/isolamento & purificação , Fenóis/análise , Alga Marinha/química , Compostos de Bifenilo/química , Compostos de Bifenilo/antagonistas & inibidores , Picratos/química , Picratos/antagonistas & inibidores , Solventes/química
14.
Artigo em Inglês | MEDLINE | ID: mdl-38717911

RESUMO

CONTEXT: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital Hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported. OBJECTIVE: We aimed to unveil the genetic etiology of CH in a large cohort of patients from Argentina. METHODS: We performed whole exome sequencing of 137 unrelated cases of CH, the largest cohort examined with this method to date. RESULTS: Of the 137 cases, 19.1% and 16% carried pathogenic or likely pathogenic variants in known and new genes, respectively, while 28.2% carried variants of uncertain significance. This high yield was achieved through the integration of broad gene panels (genes described in animal models and/or other disorders), an unbiased candidate gene screen with a new bioinformatics pipeline (including genes high loss of function intolerance), and analysis of copy number variants. Three novel findings emerged. First, the most prevalent affected gene encodes the cell adhesion factor ROBO1. Affected children had a spectrum of phenotypes, consistent with a role beyond pituitary stalk interruption syndrome. Second, we found that CHD7 mutations also produce a phenotypic spectrum, not always associated with full CHARGE syndrome. Third, we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32, and report 13 novel candidate genes associated with CH (e.g. PTPN6, ARID5B). CONCLUSION: Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.

15.
Nurs Rep ; 14(2): 1119-1128, 2024 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-38804417

RESUMO

The COVID-19 has caused high morbidity and mortality in vulnerable people, such as those affected by chronic diseases, and case-management nurses (CMNs) are reference professionals for their health care and management. The objective of this study is to better understand the discourse, experiences, and feelings about the professional performance of CMNs during the pandemic. A qualitative study was conducted by conducting semi-structured interviews with CMNs (n = 31) from the province of Seville (Spain) and performing a narrative discourse analysis. The Atlas Ti 6.2 software program was used. Two categories were defined: 1. CMNs' competencies (76 verbatim testimonies); and 2. Consequences of the COVID-19 pandemic (61 verbatim testimonies). This study was granted due permission by the Research Ethics Committee belonging to the University of Seville, under protocol code: 1139-N-22. The pandemic caused an increase in CMNs' workload, and they had to assume their usual care tasks for vulnerable populations in addition to simultaneously prioritizing assistance in nursing homes. We can highlight CMNs' adaptation to the pandemic situation and to these new requirements in the context of their significant social commitment to the advanced practice of the profession, a commitment that is closely related to leadership. We should also indicate that interpersonal relationships were improved, and that there was technological progress. Some CMNs mentioned an increase in their workload and reported experiencing burnout syndrome. We conclude that CMNs' management of health care during the pandemic has been extraordinary, especially in regard to the most vulnerable populations of patients, including individuals with chronic diseases and institutionalized older adults, a fact that has been valued by the institutions and by society in general.

16.
Front Oncol ; 14: 1394116, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38807769

RESUMO

Synopsis: This is a systematic review and meta-analysis comparing surgical excision with percutaneous ultrasound-guided vacuum-assisted excision (US-VAE) for the treatment of benign phyllodes tumor (PT) using local recurrence (LR) as the endpoint. Objective: To determine the frequency of local recurrence (LR) of benign phyllodes tumor (PT) after ultrasound-guided vacuum-assisted excision (US-VAE) compared to the frequency of LR after surgical excision. Method: A systematic review and meta-analysis [following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standard] was conducted by comparing LR in women older than 18 years treated for benign PT by US-VAE compared with local surgical excision with at least 12 months of follow-up. Studies were retrieved from PubMed, Scopus, Web of Science, and Embase. The pooled effect measure used was the odds ratio (OR) of recurrence. Results: Five comparative prospective or retrospective observational studies published between January 1, 1992, and January 10, 2022, comparing surgical excision with percutaneous US-VAE for LR of benign PT met the selection criteria. Four were retrospective observational cohorts, and one was a prospective observational cohort. A total of 778 women were followed up. Of them, 439 (56.4%) underwent local surgical excision, and 339 (43.6%) patients had US-VAE. The median age of patients in the five studies ranged from 33.7 to 39 years; the median size ranged from 1.5 cm to 3.0 cm, and the median follow-up ranged from 12 months to 46.6 months. The needle gauge ranged from 7G to 11G. LR rates were not statically significant between US-VAE and surgical excision (41 of 339 versus 34 of 439; OR 1.3; p = 0.29). Conclusion: This meta-analysis suggests that using US-VAE for the removal of benign PT does not increase local regional recurrence and is a safe minimally invasive therapeutic option. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier CRD42022309782.

17.
Proteomics ; : e2300522, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38807556

RESUMO

The mammalian ejaculate is very well suited to proteomics studies. As such, research concerning sperm proteomics is offering a huge amount of new information on the biology of spermatozoa. Among domestic animals, horses represent a species of special interest, in which reproductive technologies and a sizeable market of genetic material have grown exponentially in the last decade. Studies using proteomic approaches have been conducted in recent years, showing that proteomics is a potent tool to dig into the biology of the stallion spermatozoa. The aim of this review is to present an overview of the research conducted, and how these studies have improved our knowledge of stallion sperm biology. The main outcomes of the research conducted so far have been an improved knowledge of metabolism, and its importance in sperm functions, the impact of different technologies on the sperm proteome, and the identification of potential biomarkers. Moreover, proteomics of seminal plasma and phosphoproteomics are identified as areas of major interest.

18.
Skeletal Radiol ; 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38787402

RESUMO

Groin pain is extremely common in soccer players, especially male soccer players, with nearly a third experiencing groin pain over the course of their careers. Despite its high prevalence, there continues to be some confusion and controversy regarding the detailed anatomy and recommended terminology related to groin pain in athletes. This article will review the anatomy, clinical presentation, biomechanics, pathology and imaging findings most commonly associated with groin pain in soccer players.

19.
Foods ; 13(10)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38790748

RESUMO

Celiac disease, an autoimmune disorder induced by the ingestion of gluten, affects approximately 1.4% of the population. Gluten damages the villi of the small intestine, producing symptoms such as abdominal pain, bloating and a subsequent loss of nutrient absorption, causing destabilization of the nutritional status. Moreover, gluten can trigger extra intestinal symptoms, such as asthma or dermatitis, but also mental disorders such as depression or anxiety. Moreover, people suffering from celiac disease sometimes feel misunderstood by society, mainly due to the lack of knowledge about the disease and the gluten-free diet. Thus, the treatment and follow-up of patients with celiac disease should be approached from different perspectives, such as the following: (1) a clinical perspective: symptomatology and dietary adherence monitorization; (2) nutritional assessment: dietary balance achievement; (3) psychological assistance: mental disorders avoidance; and (4) social inclusion: educating society about celiac disease in order to avoid isolation of those with celiac disease. The aim of this narrative review is to gain deep insight into the different strategies that currently exist in order to work on each of these perspectives and to clarify how the complete approach of celiac disease follow-up should be undertaken so that the optimum quality of life of this collective is reached.

20.
Int J Mol Sci ; 25(10)2024 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-38791563

RESUMO

Chronic venous disease (CVD) comprises a spectrum of morphofunctional disorders affecting the venous system, affecting approximately 1 in 3 women during gestation. Emerging evidence highlights diverse maternofetal implications stemming from CVD, particularly impacting the placenta. While systemic inflammation has been associated with pregnancy-related CVD, preliminary findings suggest a potential link between this condition and exacerbated inflammation in the placental tissue. Inflammasomes are major orchestrators of immune responses and inflammation in different organs and systems. Notwithstanding the relevance of inflammasomes, specifically the NLRP3 (nucleotide-binding domain, leucine-rich-containing family, pyrin domain-containing-3)- which has been demonstrated in the placentas of women with different obstetric complications, the precise involvement of this component in the placentas of women with CVD remains to be explored. This study employs immunohistochemistry and real-time PCR (RT-qPCR) to examine the gene and protein expression of key components in both canonical and non-canonical pathways of the NLRP3 inflammasome (NLRP3, ASC-apoptosis-associated speck-like protein containing a C-terminal caspase recruitment domain-caspase 1, caspase 5, caspase 8, and interleukin 1ß) within the placental tissue of women affected by CVD. Our findings reveal a substantial upregulation of these components in CVD-affected placentas, indicating a potential pathophysiological role of the NLRP3 inflammasome in the development of this condition. Subsequent investigations should focus on assessing translational interventions addressing this dysregulation in affected patient populations.


Assuntos
Inflamassomos , Proteína 3 que Contém Domínio de Pirina da Família NLR , Placenta , Humanos , Feminino , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Gravidez , Placenta/metabolismo , Placenta/patologia , Inflamassomos/metabolismo , Adulto , Doença Crônica , Doenças Vasculares/metabolismo , Doenças Vasculares/patologia , Doenças Vasculares/etiologia , Complicações Cardiovasculares na Gravidez/metabolismo , Complicações Cardiovasculares na Gravidez/patologia , Interleucina-1beta/metabolismo , Interleucina-1beta/genética
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