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1.
J Int Soc Sports Nutr ; 21(1): 2411029, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39350601

RESUMEN

BACKGROUND: Green tea (GT) is a common component of supplements known as fat burners. It has gained popularity as an ergogenic aid for weight reduction to assist with obesity management. This systematic review and meta-analysis aim to explore the effect of green tea ingestion coupled with exercise training (EX) on body composition and lipid profile in overweight and obese individuals. METHODS: Two independent researchers systematically searched the electronic databases of PubMed, Web of Science, and Scopus. Studies with a randomized-controlled design to compare the effect of green tea in conjunction with exercise training (EX+GT) versus exercise training alone (EX+P) in overweight or obese participants were included. RESULTS: Of the 1,015 retrieved studies, 24 were identified to undergo full-text review, out of which 10 randomized trials met the inclusion criteria. EX+GT versus EX+P had a small and consistent effect on weight [Standardized mean difference (SMD) = -0.30, CI: -0.53 to -0.07], BMI [SMD = -0.33 CI: -0.64 to -0.02] and fat reduction [SMD = -0.29, CI: -0.57 to -0.01] and there was no evidence of heterogeneity across the trials. When compared to EX+P, EX+GT had no greater effect on lipid profile improvement [triglyceride: SMD = -0.92, CI: -1.30 to 0.49; LDL: SMD = -1.44, CI: -0.73 to 0.82; HDL: SMD = 0.56, CI -0.71 to 0.46; and total cholesterol SMD = -0.54, CI -0.85 to 0.13]. CONCLUSIONS: Current evidence suggests that green tea could have quite minimal additive benefit over exercise-induced weight loss. However, incorporation of green tea into exercise training does not seem to exert additional benefits on lipid profile and it warrants further investigations in the future.


Asunto(s)
Catequina , Obesidad , Sobrepeso , Ensayos Clínicos Controlados Aleatorios como Asunto , , Pérdida de Peso , Humanos , Obesidad/terapia , Catequina/administración & dosificación , Catequina/farmacología , Sobrepeso/terapia , Composición Corporal , Ejercicio Físico/fisiología , Lípidos/sangre
2.
Reprod Sci ; 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39356456

RESUMEN

Pulmonary arterial hypertension (PAH) is a disease that affects millions of people worldwide. Besides the effects on the lungs and heart, PAH can affect other organs, including the liver, kidneys, brain, glands, and testis. This study aimed to evaluate the impact of PAH and physical resistance training (RT), a complementary treatment for hypertension, on epididymis morphology and function and sperm parameters. Wistar rats were divided into four experimental groups (n = 8/ group): sedentary control, sedentary PAH, RT control, and RT + PAH. PAH was induced using monocrotaline injections on Day 1 and 7 of the experiment. Sixteen rats from RT groups underwent RT training for 30 days, while rats from sedentary groups did not exercise. The epididymis was processed and analyzed using microscopic, biochemical, and functional approaches. Sperm were harvested from the cauda epididymis and evaluated for morphology and motility. Our results showed that PAH compromised the epididymis antioxidant defense system and reduced NO levels, leading to an imbalance in the organ's mineral content. These alterations affected the epididymis morphology and reduced the sperm transit time in the proximal epididymis, resulting in an increase in abnormal sperm morphology in the cauda region. Unfortunately, RT was not a good therapy against the PAH effect on the epididymis. PAH negatively affected epididymis functions with consequences to male gametes. Dysfunctions in the post-testicular environment may lead to male infertility due to the disturbance of spermatozoa fecundity.

3.
Int J Exerc Sci ; 17(1): 1208-1218, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39257647

RESUMEN

Energy drinks are marketed for enhancing mental and physical performance, often containing ingredients beyond caffeine. This study investigated whether an energy drink (ED), Gorilla Mind, exerted greater effects on sustained attention, mood, handgrip strength, and push-up performance than a caffeine-matched control drink (CAF) in exercise-trained individuals (n = 21, age: 22 ± 5.9 years). In a randomized, counterbalanced, crossover design, participants first completed tests assessing mood (Profile of Mood States; POMS), sustained attention (Psychomotor Vigilance Test; PVT), handgrip strength (HG), and 1-minute maximum push-up performance (PU). They then consumed either an ED or CAF drink (200mg caffeine) in a randomized order. After 45 minutes, the tests were repeated. Following a 1-week washout period, participants returned to consume the other drink and completed the same protocol. While the ED group improved reaction time (PVT), the Delta score between ED and CAF was not statistically significant (p = 0.3391). No significant differences were found between ED and CAF groups for other measures (POMS: p = 0.152, HG: p = 0.499, PU: p = 0.209). These findings suggest that the additional ingredients in the ED may not offer substantial benefits beyond caffeine for these measures in active individuals. It is important to note that the caffeine dose was, on average, less than 3.0 mg/kg body mass, which may have influenced the outcomes.

4.
ACS Infect Dis ; 2024 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-39313410

RESUMEN

Lipophosphoglycan (LPG) is an important Leishmania virulence factor. It is the most abundant surface glycoconjugate in promastigotes, playing an important role in the interaction with phagocytic cells. While LPG is known to modulate the macrophage immune response during infection, the activation mechanisms triggered by this glycoconjugate have not been fully elucidated. This work investigated the role that LPGs purified from two strains of Leishmania major (FV1 and LV39) play in macrophage activation, considering the differences in their biochemical structures. Bone marrow-derived macrophages from BALB/c mice were stimulated with 10 µg/mL purified LPG from the LV39 and FV1 strains. We then measured the production of nitric oxide (NO) and cytokines, the expression of inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2), and the activation of MAPK pathways. LPG from the LV39 strain, which has longer poly-galactosylated side chains, induced a more pro-inflammatory profile than that from the FV1 strain. This included higher production of NO, TNF-α, and PGE2, and increased expression of COX-2 and iNOS. Additionally, the phosphorylation of ERK-1/2 and JNK was elevated in macrophages exposed to LPG from the LV39 strain. No difference in IL-10 production was observed in cells stimulated by both LPG. Thus, intraspecific structural differences in LPG contribute to distinct innate immune responses in macrophages.

5.
Epigenomics ; : 1-12, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39297700

RESUMEN

Aim: Promoter methylation of LINE-1 may be affected by prematurity, but there is little evidence in the literature.Materials & methods: Blood from premature and full-term neonates on days 0, 5, 30 and 90 was analyzed for DNA methylation percentage in a promoter region of the LINE-1, after bisulfite conversion and pyrosequencing.Results: Premature infants, as a whole, showed significantly lower methylation percentage at birth, but this difference diminished over time. However, the subgroup of extremely premature (<28 weeks gestational age) had higher methylation percentages, similar to full-term newborns.Conclusion: This research underscores the critical role of prematurity on the methylation pattern of LINE-1. These findings underline the complexity of epigenetic regulation in prematurity and emphasize the need for further studies.


Premature birth can have significant effects on a baby's development and long-term health. This study investigates how being born prematurely affects a process called DNA methylation, which can influence how genes are turned on or off. Specifically, we examined the LINE-1 promoter, a frequently occurring region of DNA known for its role in regulating gene activity.We collected blood samples from both premature and full-term newborns at birth and at several points in the early months of life. Our findings showed that premature babies have lower levels of LINE-1 promoter methylation at birth compared with full-term babies. These differences in methylation could possibly affect the babies' development and health as they grow.Our research highlights the need for continued study in this area to explore how these epigenetic changes impact long-term health and to develop strategies to mitigate these effects.

6.
J Control Release ; 375: 537-551, 2024 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-39299488

RESUMEN

Inflammatory diseases of the skin have a considerable high prevalence worldwide and negatively impact the patients' quality of life. First-line standard therapies for these conditions inherently entail important side effects when used long-term, particularly complicating the management of chronic cases. Therefore, there is a need to develop novel therapeutic strategies to offer reliable alternative treatments. Abnormally high reactive oxygen species (ROS) levels are characteristic of this kind of illnesses, and therefore a reasonable therapeutic goal. Cyanocobalamin, also known as Vitamin B12, possesses notable antioxidant and ROS-scavenging properties which could make it a possible therapeutic alternative. However, its considerable molecular weight restricts passive diffusion through the skin and forces the use of an advanced transdermal delivery system. Here, we present several prototypes of Cyanocobalamin-loaded Dissolving Microarray Patches (B12@DMAPs) with adequate mechanical properties to effectively penetrate the stratum corneum barrier, allowing drug deposition into the skin structure. Ex vivo penetration and permeability studies noted an effective drug presence within the dermal skin layers; in vitro compatibility studies in representative cell skin cell lines such as L929 fibroblasts and HaCaT keratinocytes ensured their safe use. The in vivo efficacy of the selected prototype was tested in a delayed-type hypersensitivity murine model that mimics an inflammatory skin process. Several findings such as a reduction of MPO-related photon emission in a bioluminescence study, protection against histological damage, and decrease of inflammatory cytokines levels point out the effectivity of B12@DMAPs to downregulate the skin inflammatory environment. Overall, B12@DMAPs offer a cost-effective translational alternative for improving patients' skin healthcare.

7.
Expert Opin Drug Deliv ; : 1-25, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39271564

RESUMEN

INTRODUCTION: Nucleic acid-based therapies are promising advancements in medicine. They offer unparalleled efficacy in treating previously untreatable diseases through precise gene manipulation techniques. However, the challenge of achieving targeted delivery to specific cells remains a significant obstacle. AREAS COVERED: This review thoroughly examines the physicochemical properties of nucleic acids, focusing on their interaction with carriers and exploring various delivery routes, including oral, pulmonary, ocular, and dermal routes. It also examines the nonviral vector delivery efficiency of nucleic acids, focusing on RNA, and provides regulatory landscapes. EXPERT OPINION: The role of carriers in improving the effectiveness of nucleic acid-based therapies is emphasized. The discussion of published results covers regulatory frameworks, including insights into European Medicines Agency guidelines. It highlights cutting-edge biotechnological innovations and a quality-by-design approach that could facilitate clinical translation and smooth regulatory obstacles.

8.
J Clin Med ; 13(18)2024 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-39336853

RESUMEN

Background: The goal is to analyze the need for reinterventions under deep sedation to treat oral pathologies in a population of children with special health care needs (SHCNs) and healthy children who followed a prevention program and to study the influence of parental motivation and child collaboration on the need for reinterventions under deep sedation. Methods: A retrospective study was carried out in a private clinic in Cartagena (Murcia, Spain), with patients treated under deep sedation from 2006 to 2018, both years included, following the Strobe statement. Results: In this study with 230 children who were treated under deep sedation, 23.92% underwent two or more sedations. The mean time elapsed between the first and the second sedations was 21.64 ± 15.87 months, and the main cause for reinterventions was the occurrence of new pathologies. Significantly more pulp treatments were performed in the first sedation than in the second (p = 0.013) and in the third (p = 0.007). Healthy children required fewer reinterventions under deep sedation than children with special needs (6.42% vs. 39.67%). Similarly, patients who followed the preventive program and required some type of dental treatment were reoperated fewer times than those who did not follow the preventive program (35.8 vs. 50%); than "cooperative" children as opposed to "non-cooperative" (12.12% vs. 60.93%) and than patients with "motivated" parents as opposed to those with "non-motivated" parents (20.83% vs. 46.34%). A total of 50% of the children who participated in the preventive program became "cooperative", and 100% were able to receive some treatment in the dental chair. Conclusions: Prevention programs, including motivational interviewing, are essential to improve children's behavior in the dental chair and reduce the need for reinterventions under general anesthesia or deep sedation. Although patients with special needs do require more sedation during their lifetime due to their inability to cooperate, these programs are necessary for the maintenance of oral health status and for the early diagnosis of caries lesions. Pediatric dentists should implement a quarterly preventive program because it improves patient collaboration. It is essential to achieve the motivation of parents in the oral care of their children.

9.
Life (Basel) ; 14(9)2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39337885

RESUMEN

BACKGROUND: The study evaluated the effects of resistance exercise training and açaí supplementation on cardiac parameters in hypertensive animals. METHODS: For this study, rats from the Wistar and SHR lines (spontaneously hypertensive rats) were used. The animals were divided into 5 groups: Wistar Control (C); Control Hypertensive (H); Trained Hypertensive (HT); Hypertensive and Supplemented with Açaí (HA); and Hypertensive Trained and Supplemented with Açaí (HAT). Resistance exercise training was carried out through climbing. The supplemented groups received 3 g of açaí/kg of body mass. The animals' systolic blood pressure (SBP), body mass, and physical test were measured at the beginning and end of the intervention. At the end, an echocardiographic analysis was performed. Histological analysis and oxidative stress of the LV were performed. RESULTS: It was found that hypertensive animals showed an increase in SBP, and the treatments reduced this parameter. The trained groups achieved higher values of maximum carrying load. Hypertension increased the dimension of the left ventricular free wall in diastole and reduced ejection and shortening fractions. The trained groups showed improvement in ejection and shortening fractions. The H group increased the proportion of extracellular matrix and reduced the proportion of cells, with the HAT group attenuating this change. Cell diameter was greater in group H, and all treatments reduced this parameter. Hypertension increased the concentration of malondialdehyde and decreased catalase activity in LV. The treatments managed to mitigate this damage. CONCLUSIONS: It is concluded that the treatments managed to generate positive cardiovascular adaptations, and their combination enhanced these effects.

10.
BMJ Open ; 14(9): e083624, 2024 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-39317490

RESUMEN

BACKGROUND: The WHO identifies climate change as the most significant threat to global health systems. Indigenous peoples, whose lives are deeply intertwined with nature, are particularly vulnerable to the impacts of these changes. OBJECTIVE: This study aimed to understand the perspectives of Indigenous stakeholders and public services managers on the interconnectedness of climate change and Indigenous health. DESIGN: A qualitative study with 22 Indigenous stakeholders and public service managers on climate change and perceived impact on Indigenous health. SETTING AND PARTICIPANTS: Indigenous stakeholders and public service managers on climate change and perceived impact on Indigenous health from Brazil. Data was collected through interviews incorporating two vignette videos depicting environmental and health scenarios. Thematic content analysis was used to analyse the data. RESULTS: The analytical process yielded six subcategories that were further grouped into three overarching thematic macro-categories: environmental degradation and climate change in the context of Indigenous peoples; environment, vulnerability and impact on Indigenous mental health; and actions and public health policies for Indigenous peoples. CONCLUSION: The perspectives of Indigenous stakeholders and public service managers on the interconnectedness of climate change and Indigenous health were deeply entrenched in their lived experiences of loss of their lands from deforestation and environmental degradation. They argued strongly for the strengthening of public health policies aimed at the Indigenous peoples, to face many challenges, especially suicide, and to have a voice in decision-making. A sensitive approach that values Indigenous peoples' connections with nature is fundamental to promote their health and well-being.


Asunto(s)
Cambio Climático , Investigación Cualitativa , Humanos , Brasil , Pueblos Indígenas/psicología , Masculino , Femenino , Adulto , Conservación de los Recursos Naturales , Salud Mental , Política de Salud , Persona de Mediana Edad
11.
Cir Esp (Engl Ed) ; 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39233277

RESUMEN

In esophagogastric surgery, the appearance of an anastomotic leak is the most feared complication. Early diagnosis is important for optimal management and successful resolution. For this reason, different studies have investigated the value of the use of markers to predict possible postoperative complications. Because of this, research and the creation of predictive models that identify patients at high risk of developing complications are mandatory in order to obtain an early diagnosis. The PROFUGO study (PRedictivO Model for Early Diagnosis of anastomotic LEAK after esophagectomy and gastrectomy) is proposed as a prospective and multicenter national study that aims to develop, with the help of artificial intelligence methods, a predictive model that allows for the identification of high-risk cases. of anastomotic leakage and/or major complications by analyzing different clinical and analytical variables collected during the postoperative period of patients undergoing esophagectomy or gastrectomy.

13.
Hypertension ; 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39234679

RESUMEN

Pulmonary hypertension (PH) is a rare and severe condition characterized by increased pressure in the pulmonary circulation, often resulting in right ventricular failure and death. The autonomic nervous system (ANS) plays a crucial role in the cardiovascular and pulmonary controls. Dysfunction of ANS has been implicated in the pathogenesis of cardiopulmonary diseases. Conversely, dysfunctions in ANS can arise from these diseases, impacting cardiac and pulmonary autonomic functions and contributing to disease progression. The complex interaction between ANS dysfunction and PH plays a crucial role in the disease progression, making it essential to explore interventions that modulate ANS, such as physical exercise, to improve the treatment and prognosis of patients with PH. This review addresses autonomic dysfunctions found in PH and their implications for the cardiopulmonary system. Furthermore, we discuss how physical exercise, a significant modulator of ANS, may contribute to the prognosis of PH. Drawing from evidence of aerobic and resistance exercise training in patients and experimental models of PH, potential cardiovascular benefits of exercise are presented. Finally, we highlight emerging therapeutic targets and perspectives to better cope with the complex condition. A comprehensive understanding of the interaction between ANS and PH, coupled with targeted physical exercise interventions, may pave the way for innovative therapeutic strategies and significantly improve the treatment and prognosis of vulnerable patients.

15.
Nat Commun ; 15(1): 7571, 2024 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-39217142

RESUMEN

Three-dimensional organic-inorganic perovskites are rapidly evolving materials with diverse applications. This study focuses on their two representatives - acetamidinium manganese(II) formate (AceMn) and formamidinium manganese(II) formate (FMDMn) - subjected to varying temperature and pressure. We show that AceMn undergoes atypical pressure-induced structural transformations at room temperature, increasing the symmetry from ambient-pressure P21/n phase II to the high-pressure Pbca phase III. In turn, FMDMn in its C2/c phase II displays temperature- and pressure-induced ordering of cage cations that proceeds without changing the phase symmetry or energy barriers. The FMD+ cations do not order under constant volume across the pressure-temperature plane, despite similar pressure and temperature evolution of the unit-cell parameters. Temperature and pressure affect the cage cations differently, which is particularly pronounced in their relaxation dynamics seen by dielectric spectroscopy. Their motion require a rearrangement of the metal-formate framework, resulting in the energy and volumetric barriers defined by temperature-independent activation energy and activation volume parameters. As this process is phonon-assisted, the relaxation time is strongly temperature-dependent. Consequently, relaxation times do not scale with unit-cell volume nor H-bond lengths in formates, offering the possibility of tuning their electronic properties by external stimuli (like temperature or pressure) even without any structural changes.

16.
Heliyon ; 10(14): e34307, 2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39108847

RESUMEN

The literature shows that there are dimensions related to soil legislation and policy in the European Union contexts that can be better explored through bibliometric analysis, systematic reviews and quantitative approaches. Therefore, this research aims to analyse documents on soil legislation and policies, highlighting the specific cases of Portugal and the European Union (EU). The aim is to identify suggestions to improve the Portuguese and European Union soil policy instruments and measures. To achieve these objectives, a bibliometric analysis (considering text and bibliographic data) and systematic review were carried out, as well as a survey of the available soil legislation (considering qualitative data and quantitative analysis). The results show that soil legislation and policy have become more relevant in recent years and that concerns are about soil health, protection and safety, as well as risk mitigation, biodiversity preservation and the maintenance of ecosystem services. However, some topics could be further explored in future research, namely those related to multidisciplinarity, smart methodologies, soil salinisation, innovation and quantitative approaches to assessing policy impacts. This study presents suggestions that can be considered by the Portuguese and European Union policymakers to improve the respective soil legislation and policies. Defining a regulatory system for soils in the European Union has not been easy over time, although there have been attempts, given the specificities of the contexts related to soils and the reluctance of some member states to take certain measures. The approaches and analysis topics considered are innovative (there aren't many scientific documents on the topics that address bibliometric analysis and quantitative assessments with qualitative data) and bring novelty to the literature.

17.
An Acad Bras Cienc ; 96(suppl 1): e20230095, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39109696

RESUMEN

This study investigated the effects of ovariectomy and caffeine intake on bone health in rats on calcium-deficient diet. Forty adults female Wistar rats were divided into 4 groups in a 2x2 factorial design: Ovary (OVX/SHAM) and Caffeine (placebo/caffeine). The animals were housed in individual cages for 8 weeks, receiving 18-20g of AIN-93M diet per day, containing 50% of the daily recommended intake of calcium. The rats underwent ovariectomy (OVX) or laparotomy (SHAM) surgery. Caffeine groups received 6mg of caffeine/kg/day. After euthanasia, the tibia and femur were dissected to determine the calcium content and bone fracture strength, respectively. Blood sample was collected to determine serum Ostase. 24-hour urine was analyzed for excreted calcium and NTx. Reduced bone fracture strength and calcium content were observed in OVX and Caffeine groups. When observed separately, OVX group showed increased urinary NTx and lower bone weight, blood ostase, and urinary calcium. Caffeine groups showed elevated urinary calcium. There was a positive correlation between bone fracture strength and calcium content. NTx correlated negatively with bone calcium, fracture strength and thickness. In conclusion, both OVX and caffeine intake debilitate bone health in rats on calcium-deficient diet.


Asunto(s)
Densidad Ósea , Cafeína , Calcio , Ovariectomía , Ratas Wistar , Animales , Femenino , Cafeína/administración & dosificación , Calcio/sangre , Calcio/orina , Calcio/análisis , Densidad Ósea/efectos de los fármacos , Ratas , Calcio de la Dieta/administración & dosificación , Calcio de la Dieta/análisis , Osteoporosis , Fracturas Óseas
19.
Mycoses ; 67(8): e13789, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39179520

RESUMEN

During the COVID-19 pandemic, many patients in intensive care units (ICUs) were affected by invasive fungal infections, including aspergillosis, contributing to a high mortality rate. Diagnosing proven COVID-19-associated pulmonary aspergillosis (CAPA) requires clinical and radiological evaluations, along with laboratory testing of bronchoalveolar lavage samples or lung biopsies. However, these procedures and equipment are often inaccessible in developing countries or regions with limited resources, including Brazil. Consequently, alternative diagnostic methods, such as measuring Aspergillus galactomannan (GM) in tracheal aspirate (TA), have been explored for CAPA diagnosis. Nonetheless, research on the efficacy of TA-based diagnostic tests is limited. This study aimed to assess the performance of the IMMY® Sona Aspergillus lateral flow assay (LFA) for GM detection in TA samples from 60 ICU patients with suspected CAPA at two tertiary hospitals in Campo Grande, Brazil. The ELISA method (Platelia Aspergillus AG, Bio-Rad®) was used to detect Aspergillus GM in TA samples, serving as the microbiological criterion and reference test. Fifteen patients (12.4%) were identified as having possible CAPA. The overall accuracy of LFA was 94%, and the tests demonstrated an agreement of 93.1% (Cohen's kappa of 0.83). Based on our findings, the LFA for Aspergillus GM detection in TA samples exhibited excellent performance, proving to be a valuable diagnostic tool for potential CAPA. In a systematic review, two studies were included, and the meta-analysis revealed pooled estimates provided a sensitivity of 86% (95% CI, 80%-91%) and specificity of 93% (95% CI, 86%-97%). The diagnostic odds ratio (DOR) for identification of Aspergillus using LFA was 103.38 (95% CI, 38.03-281.03). Despite its lower sensitivity compared to our study, the LFA appears to be a promising diagnostic option for CAPA, particularly in suspected cases that have not received antifungal therapy. This enables timely antifungal treatment and could reduce mortality rates in regions where bronchoscopy is unavailable or limited.


Asunto(s)
Aspergillus , COVID-19 , Galactosa , Mananos , Sensibilidad y Especificidad , Tráquea , Humanos , Galactosa/análogos & derivados , Mananos/análisis , Brasil , COVID-19/complicaciones , COVID-19/diagnóstico , Aspergillus/aislamiento & purificación , Tráquea/microbiología , Persona de Mediana Edad , Estudios Transversales , Masculino , Femenino , Aspergilosis Pulmonar/diagnóstico , Anciano , Adulto , SARS-CoV-2/aislamiento & purificación , Unidades de Cuidados Intensivos
20.
Front Pediatr ; 12: 1334610, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39156017

RESUMEN

Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved. Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases. Methods: This study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described genes associated with pituitary development. Next, we investigated the whole exome for variants inherited in a pattern consistent with a monogenic etiology. Results: Ten families were evaluated; eight were composed of a child with EPP and healthy parents, one has two affected siblings, and one family has a son and mother with EPP. When analyzing the previously described candidate variants associated with pituitary development, we found variants in GLI2 and FGFR1 in three families. We also found six other variants of interest in three patients: KMT2A, GALR3, RTN4R, SEMA3A, NIPBL, and DSCAML1. Conclusion: The analysis allowed us to find previously reported and not reported GLI2 variants, all inherited from healthy parents, which reinforces the incomplete penetrance pattern of GLI2 variants in the development of EPP and draws attention to possible future functional studies of those variants that have a recurrent expression in CH. We also found novel FGFR1 and SEMA3A variants that suggest an oligogenic mechanism in PSIS and EPP, as seen in patients with hypogonadotropic hypogonadism. We report the first case of a patient with Wiedemann-Steiner syndrome and PSIS, suggesting that the KMT2A gene may be related to pituitary development. Furthermore, the trios' analysis allowed us to find five other variants of interest. Future investigations may clarify the roles of these variants in the etiology of EPP and PSIS.

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