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1.
Cureus ; 16(4): e58377, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38756309

RESUMO

Sudden sensorineural hearing loss (SSHL) is believed to be mainly idiopathic since the cause is not usually identified. Several recent studies have examined the role of cardiovascular risk factors in this disease. The aim of this systematic literature review is to investigate the possible association between acquired and inherited cardiovascular risk factors and the incidence, severity, and prognosis of SSHL. A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A search of the PubMed database for the period between February 2010 and January 2023 was performed in order to retrieve eligible articles. The analytic cohort included 24 studies. Overall, this systematic review includes a total of 61,060 patients that were encompassed in these studies. According to most studies, the prevalence of dyslipidaemia, diabetes, and ultrasound indices of atherosclerosis was significantly higher in SSHL patients compared to controls. On the other hand, obesity, hypertension, and smoking did not seem to influence the risk of SSHL. Most studies suggest the presence of a correlation between a high cardiovascular risk profile and the risk of developing SSHL. The theory of microvascular impairment in the development of SSHL is indirectly supported by the findings of this review.

2.
Eur J Clin Nutr ; 78(5): 455-458, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38267532

RESUMO

BACKGROUND: Despite being a long-term therapy for patients with short bowel syndrome (SBS), subcutaneous injections of teduglutide promote the regeneration of the gastrointestinal tract. Such cases are particularly concerning for patients with residual small bowel. METHODS: In this report, we present a case of an SBS patient with only 5 cm of remaining small bowel and a high-output duodenal stoma, who was treated with teduglutide. RESULTS: The initiation of teduglutide injections in our patient resulted in a reduction of stoma output, improvement in the patient's nutritional status, regulation of fluid balance, and stabilization of their clinical condition. CONCLUSIONS: This case suggests that subcutaneous injections of teduglutide, when combined with appropriate nutritional care, can effectively treat high-output stomas, even in cases where the small bowel is nearly absent.


Assuntos
Intestino Delgado , Estado Nutricional , Peptídeos , Síndrome do Intestino Curto , Humanos , Síndrome do Intestino Curto/terapia , Peptídeos/uso terapêutico , Equilíbrio Hidroeletrolítico/efeitos dos fármacos , Fármacos Gastrointestinais/uso terapêutico , Masculino , Injeções Subcutâneas , Pessoa de Meia-Idade , Estomas Cirúrgicos , Feminino
3.
Front Endocrinol (Lausanne) ; 14: 1231828, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37964950

RESUMO

Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle weakness, osteopenia or/and osteoporosis. Patients usually have increased serum concentrations of bone resorption markers, while markers of bone formation are within normal range. The causative molecular defects encompass the members of the Ras/MAPK/ERK pathway and the adjacent cascades, important for the maintenance of normal bone homeostasis. It has been suggested that modulation of the expression of specific molecules involved in the processes of bone remodeling may affect the osteogenic fate decision, potentially, bringing out new pharmaceutical targets. Currently, the laboratory imprint of bone metabolism on the clinical picture of the affected individuals is not clear, maybe due to the rarity of these syndromes, the small number of the recruited patients and the methods used for the description of their clinical and biochemical profiles.


Assuntos
Displasia Ectodérmica , Cardiopatias Congênitas , Humanos , Proteínas ras/metabolismo , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/metabolismo , Cardiopatias Congênitas/patologia , Displasia Ectodérmica/genética , Displasia Ectodérmica/metabolismo , Insuficiência de Crescimento
4.
Curr Vasc Pharmacol ; 21(4): 234-245, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37518994

RESUMO

BACKGROUND: Offspring exposed in foetal life to gestational diabetes mellitus (GDM) are at increased risk for future metabolic diseases. OBJECTIVE: To explore the prognostic role of abdominal aorta intima-media thickness (aIMT) in neonates exposed to GDM as a possible biomarker for later atherogenesis and its possible correlation with thioredoxin- interacting protein (TXNIP), a protein involved in oxidative stress. METHODS: In this prospective, observational study, mother-infant pairs were studied in 2 groups (57 patients with GDM and 51 controls without GDM). TXNIP levels were measured in the placenta, as well as in the umbilical and neonatal blood. The data were correlated with aIMT in neonates. RESULTS: aIMT was increased in GDM offspring (patients: median [range]=0.39 mm [0.31-0.46] vs controls: median=0.28 mm [0.23-0.33]; p=0.001) and remained significant after adjusting for possible confounders (e.g., triglycerides, blood pressure, vitamin D, birth weight and gender; ß coefficient=0.131 p=0.049). TXNIP levels were increased in trophoblasts (p=0.001) and syncytiotrophoblasts (p=0.001) and were decreased in endothelial cells (p=0.022) in GDM offspring vs controls. Moreover, TXNIP levels in trophoblasts positively correlated with aIMT (r=0.369; p=0.001). TXNIP levels in umbilical/ neonatal blood were not associated with GDM. CONCLUSION: Increased aIMT was demonstrated in the offspring of mothers with GDM. Non-invasive measurement of aIMT could be used as a biomarker to identify children at increased risk for atherogenesis later in life. This information may encourage early preventive measures. TXNIP may be associated with GDM and/or aIMT.


Assuntos
Aterosclerose , Diabetes Gestacional , Recém-Nascido , Feminino , Criança , Gravidez , Humanos , Mães , Diabetes Gestacional/diagnóstico , Estudos Prospectivos , Células Endoteliais , Ultrassonografia , Túnica Íntima/diagnóstico por imagem , Biomarcadores , Estresse Oxidativo , Tiorredoxinas
5.
Cureus ; 15(6): e40923, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37496556

RESUMO

Rhinosinusitis is one of the most common inflammatory diseases. It has been recognized that intracranial vessels are involved and there might be an association with stroke occurrence. The aim of this study was to evaluate the association between rhinosinusitis and cardiovascular diseases, especially stroke, through a literature review. The review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. We performed on PubMed a literature search from February 2000 to February 2022, using the search terms 'rhinosinusitis' OR 'chronic rhinosinusitis' AND 'stroke' OR 'ischemic stroke'. Fourteen studies were eligible and included in the analysis. Overall, the studies encompassed a total of 1,006,338 patients included in this review. All studies concluded that there is a statistically significant correlation between clinical or radiological sinus inflammation and the risk of stroke, which is independent of traditional stroke risk factors. In conclusion, rhinosinusitis is associated with an increased incidence of stroke.

6.
Mol Ecol ; 32(23): 6093-6109, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37221561

RESUMO

Understanding the relative contributions of ecological and evolutionary processes to the structuring of ecological communities is needed to improve our ability to predict how communities may respond to future changes in an increasingly human-modified world. Metabarcoding methods make it possible to gather population genetic data for all species within a community, unlocking a new axis of data to potentially unveil the origins and maintenance of biodiversity at local scales. Here, we present a new eco-evolutionary simulation model for investigating community assembly dynamics using metabarcoding data. The model makes joint predictions of species abundance, genetic variation, trait distributions and phylogenetic relationships under a wide range of parameter settings (e.g. high speciation/low dispersal or vice versa) and across a range of community states, from pristine and unmodified to heavily disturbed. We first demonstrate that parameters governing metacommunity and local community processes leave detectable signatures in simulated biodiversity data axes. Next, using a simulation-based machine learning approach we show that neutral and non-neutral models are distinguishable and that reasonable estimates of several model parameters within the local community can be obtained using only community-scale genetic data, while phylogenetic information is required to estimate those describing metacommunity dynamics. Finally, we apply the model to soil microarthropod metabarcoding data from the Troodos mountains of Cyprus, where we find that communities in widespread forest habitats are structured by neutral processes, while high-elevation and isolated habitats act as an abiotic filter generating non-neutral community structure. We implement our model within the ibiogen R package, a package dedicated to the investigation of island, and more generally community-scale, biodiversity using community-scale genetic data.


Assuntos
Ecossistema , Modelos Biológicos , Humanos , Filogenia , Evolução Biológica , Biodiversidade , Variação Genética/genética
7.
J Clin Endocrinol Metab ; 108(10): 2666-2675, 2023 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-36947076

RESUMO

INTRODUCTION: The low-density lipoprotein receptor-related protein 5 (LRP5) and its inhibitor sclerostin, are key components of bone metabolism and potential contributors to type 2 diabetes mellitus susceptibility. This study aims at evaluating the expression of placental LRP5 and sclerostin in pregnancies with gestational diabetes mellitus (GDM) and investigate possible associations with umbilical sclerostin concentrations and clinical outcomes in mothers and their neonates. METHODS: Twenty-six GDM-mothers and 34 non-GDM mothers of Caucasian origin and their neonates admitted in a gynecology and obstetrics department of a university hospital were included in this study. Demographic data and maternal fasting glucose concentrations (24-28 weeks of gestation) were retrieved from the patients' medical records. Placental LRP5 was determined by immunohistochemistry (IHC) and Western blotting analysis; placental sclerostin was determined by IHC. Umbilical serum sclerostin concentrations were measured by ELISA. RESULTS: Placental sclerostin IHC intensity values were positively correlated with LRP5 values as detected either by IHC (r = 0.529; P < .001) or Western blotting (r = 0.398; P = .008), with pregestational maternal body mass index values (r = 0.299; P = .043) and with maternal fasting glucose concentrations (r = 0.475; P = .009). Placental sclerostin and LRP5 were significantly greater in GDM compared with non-GDM placentas (histo-score: 65.08 ± 17.09 vs 11.45 ± 2.33, P < .001; 145.53 ± 43.74 vs 202.88 ± 58.65, P < .001; respectively). DISCUSSION: Sclerostin and LRP5 were detected in human placentas. The overexpression of placental sclerostin and LRP5 values in GDM compared with non-GDM pregnancies, as well as the positive association of placental sclerostin values with pregestational maternal body mass index and maternal fasting glucose concentrations may indicate the development of an adaptive mechanism in face of maternal hyperglycemia.


Assuntos
Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Feminino , Humanos , Recém-Nascido , Gravidez , Diabetes Mellitus Tipo 2/metabolismo , Glucose/metabolismo , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo , Placenta/metabolismo
8.
J Clin Med ; 12(4)2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36835970

RESUMO

BACKGROUND: Laryngopharyngeal reflux may affect people of any age; still, most of the accumulated knowledge concerns adults, and evidence regarding pediatric populations remains relatively restricted. This study aims to review the most recent and emerging aspects of pediatric laryngopharyngeal reflux from the last ten years. It also attempts to identify gaps in knowledge and highlight discrepancies that future research should urgently address. METHODS: An electronic search of the MEDLINE database was conducted, limited to January 2012 through December 2021. Non-English language articles, case reports, and studies that concerned a purely or predominantly adult population were excluded. The information from the articles with the most relevant contribution was initially categorized by theme and subsequently synthesized into a narrative form. RESULTS: 86 articles were included, of which 27 were review articles, eight were surveys, and 51 were original articles. Our review systematically maps the research done in the last decade and provides an updated overview and the current state-of-the-art in this subject. CONCLUSIONS: Despite discrepancies and heterogeneity in accumulating research, evidence gathered so far endorses a need for refining an escalating multiparameter diagnostic approach. A step-wise therapeutic plan appears to be the most reasonable management approach, starting with behavioral changes for mild to moderate, uncomplicated cases and escalating to personalized pharmacotherapy options for severe or nonresponsive cases. Surgical options could be considered in the most severe cases when potentially life-threatening symptoms persist despite maximal medical therapy. Over the past decade, the amount of available evidence has been gradually increasing; however, its strength remains low. Several aspects remain markedly under-addressed, and further adequately powered, multicenter, controlled studies with uniformity in diagnostic procedures and criteria are urgently needed.

9.
Mol Ecol ; 32(23): 6110-6128, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34775647

RESUMO

Disentangling the relative role of environmental filtering and spatial processes in driving metacommunity structure across mountainous regions remains challenging, as the way we quantify spatial connectivity in topographically and environmentally heterogeneous landscapes can influence our perception of which process predominates. More empirical data sets are required to account for taxon- and context-dependency, but relevant research in understudied areas is often compromised by the taxonomic impediment. Here we used haplotype-level community DNA metabarcoding, enabled by stringent filtering of amplicon sequence variants (ASVs), to characterize metacommunity structure of soil microarthropod assemblages across a mosaic of five forest habitats on the Troodos mountain range in Cyprus. We found similar ß diversity patterns at ASV and species (OTU, operational taxonomic unit) levels, which pointed to a primary role of habitat filtering resulting in the existence of largely distinct metacommunities linked to different forest types. Within-habitat turnover was correlated to topoclimatic heterogeneity, again emphasizing the role of environmental filtering. However, when integrating landscape matrix information for the highly fragmented Quercus alnifolia habitat, we also detected a major role of spatial isolation determined by patch connectivity, indicating that stochastic and niche-based processes synergistically govern community assembly. Alpha diversity patterns varied between ASV and OTU levels, with OTU richness decreasing with elevation and ASV richness following a longitudinal gradient, potentially reflecting a decline of genetic diversity eastwards due to historical pressures. Our study demonstrates the utility of haplotype-level community metabarcoding for characterizing metacommunity structure of complex assemblages and improving our understanding of biodiversity dynamics across mountainous landscapes worldwide.


Assuntos
Mariposas , Solo , Animais , Florestas , Ecossistema , Biodiversidade
10.
Mol Ecol ; 32(23): 6161-6176, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36156326

RESUMO

Current understanding of ecological and evolutionary processes underlying island biodiversity is heavily shaped by empirical data from plants and birds, although arthropods comprise the overwhelming majority of known animal species, and as such can provide key insights into processes governing biodiversity. Novel high throughput sequencing (HTS) approaches are now emerging as powerful tools to overcome limitations in the availability of arthropod biodiversity data, and hence provide insights into these processes. Here, we explored how these tools might be most effectively exploited for comprehensive and comparable inventory and monitoring of insular arthropod biodiversity. We first reviewed the strengths, limitations and potential synergies among existing approaches of high throughput barcode sequencing. We considered how this could be complemented with deep learning approaches applied to image analysis to study arthropod biodiversity. We then explored how these approaches could be implemented within the framework of an island Genomic Observatories Network (iGON) for the advancement of fundamental and applied understanding of island biodiversity. To this end, we identified seven island biology themes at the interface of ecology, evolution and conservation biology, within which collective and harmonized efforts in HTS arthropod inventory could yield significant advances in island biodiversity research.


Assuntos
Artrópodes , Animais , Artrópodes/genética , Biodiversidade , Genômica , Plantas/genética , Código de Barras de DNA Taxonômico/métodos , Ilhas
11.
Mol Phylogenet Evol ; 178: 107651, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36306995

RESUMO

Uropeltidae is a clade of small fossorial snakes (ca. 64 extant species) endemic to peninsular India and Sri Lanka. Uropeltid taxonomy has been confusing, and the status of some species has not been revised for over a century. Attempts to revise uropeltid systematics and undertake evolutionary studies have been hampered by incompletely sampled and incompletely resolved phylogenies. To address this issue, we take advantage of historical museum collections, including type specimens, and apply genome-wide shotgun (GWS) sequencing, along with recent field sampling (using Sanger sequencing) to establish a near-complete multilocus species-level phylogeny (ca. 87% complete at species level). This results in a phylogeny that supports the monophyly of all genera (if Brachyophidium is considered a junior synonym of Teretrurus), and provides a firm platform for future taxonomic revision. Sri Lankan uropeltids are probably monophyletic, indicating a single colonisation event of this island from Indian ancestors. However, the position of Rhinophis goweri (endemic to Eastern Ghats, southern India) is unclear and warrants further investigation, and evidence that it may nest within the Sri Lankan radiation indicates a possible recolonisation event. DNA sequence data and morphology suggest that currently recognised uropeltid species diversity is substantially underestimated. Our study highlights the benefits of integrating museum collections in molecular genetic analyses and their role in understanding the systematics and evolutionary history of understudied organismal groups.


Assuntos
Museus , Serpentes , Animais , Filogenia , Serpentes/genética , Sequência de Bases , Sri Lanka
12.
Int. arch. otorhinolaryngol. (Impr.) ; 26(3): 491-498, July-Sept. 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1405139

RESUMO

Abstract Introduction Anatomical variations of the nasal cavity and of the paranasal sinuses are frequently encountered and play an important role in dysfunctional drainage of sinuses. However, it is not clear in the literature whether they predispose to sinus pathology. Objectives The aim of the present review is to summarize the understanding of the association between anatomical variations of the sinonasal area and sinus pathology. Data Synthesis The present review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. We performedathorough research on PubMed from October2004 until May 2020 byusing the search terms paranasal sinus anatomical variations and sinus disease, sinusitis, and mucosal disease. Thirty studies were eligible and were included in the analysis. Overall, the studies encompassed a total of 6,999 patients included in the present review. In many studies, it has been statistically established that certain anatomical variations increase the risk of sinus disease. On the other hand, the rest of the collected studies failed to show any statistically significant correlation between anatomical variants and sinus pathology. Conclusion The present study highlights the possible correlation between some anatomical variations of the sinonasal area and pathologies of the paranasal sinuses. Careful assessment and computed tomography (CT) in patients with chronic rhinosinusitis is needed, especially in those undergoing endoscopic surgery, to identify and treat anatomical variations in the paranasal sinuses that may be correlated with rhinosinusitis. Due to contradictory results in the literature, further research is needed to elucidate the effects of anatomical variants of the sinonasal area.

13.
Int Arch Otorhinolaryngol ; 26(3): e491-e498, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35846811

RESUMO

Introduction Anatomical variations of the nasal cavity and of the paranasal sinuses are frequently encountered and play an important role in dysfunctional drainage of sinuses. However, it is not clear in the literature whether they predispose to sinus pathology. Objectives The aim of the present review is to summarize the understanding of the association between anatomical variations of the sinonasal area and sinus pathology. Data Synthesis The present review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. We performed a thorough research on PubMed from October 2004 until May 2020 by using the search terms paranasal sinus anatomical variations and sinus disease , sinusitis , and mucosal disease . Thirty studies were eligible and were included in the analysis. Overall, the studies encompassed a total of 6,999 patients included in the present review. In many studies, it has been statistically established that certain anatomical variations increase the risk of sinus disease. On the other hand, the rest of the collected studies failed to show any statistically significant correlation between anatomical variants and sinus pathology. Conclusion The present study highlights the possible correlation between some anatomical variations of the sinonasal area and pathologies of the paranasal sinuses. Careful assessment and computed tomography (CT) in patients with chronic rhinosinusitis is needed, especially in those undergoing endoscopic surgery, to identify and treat anatomical variations in the paranasal sinuses that may be correlated with rhinosinusitis. Due to contradictory results in the literature, further research is needed to elucidate the effects of anatomical variants of the sinonasal area.

14.
Gigascience ; 112022 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-35852418

RESUMO

Metazoan metabarcoding is emerging as an essential strategy for inventorying biodiversity, with diverse projects currently generating massive quantities of community-level data. The potential for integrating across such data sets offers new opportunities to better understand biodiversity and how it might respond to global change. However, large-scale syntheses may be compromised if metabarcoding workflows differ from each other. There are ongoing efforts to improve standardization for the reporting of inventory data. However, harmonization at the stage of generating metabarcode data has yet to be addressed. A modular framework for harmonized data generation offers a pathway to navigate the complex structure of terrestrial metazoan biodiversity. Here, through our collective expertise as practitioners, method developers, and researchers leading metabarcoding initiatives to inventory terrestrial biodiversity, we seek to initiate a harmonized framework for metabarcode data generation, with a terrestrial arthropod module. We develop an initial set of submodules covering the 5 main steps of metabarcode data generation: (i) sample acquisition; (ii) sample processing; (iii) DNA extraction; (iv) polymerase chain reaction amplification, library preparation, and sequencing; and (v) DNA sequence and metadata deposition, providing a backbone for a terrestrial arthropod module. To achieve this, we (i) identified key points for harmonization, (ii) reviewed the current state of the art, and (iii) distilled existing knowledge within submodules, thus promoting best practice by providing guidelines and recommendations to reduce the universe of methodological options. We advocate the adoption and further development of the terrestrial arthropod module. We further encourage the development of modules for other biodiversity fractions as an essential step toward large-scale biodiversity synthesis through harmonization.


Assuntos
Artrópodes , Animais , Artrópodes/genética , Biodiversidade , Código de Barras de DNA Taxonômico , Estudos Longitudinais
15.
Eur J Pediatr ; 181(10): 3691-3700, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35904599

RESUMO

Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. It belongs to a wider group of pathologies, known as Rasopathies, due to the implication of genes encoding components of the Ras/MAPK signalling pathway. Recording the genetic alterations across populations helps assessing specific features to specific genes which is essential for better disease's recognition, prognosis and monitoring. Herein, we report the clinical and molecular data of a Greek cohort comprising of 86 NS or NS-like patients admitted at a single tertiary Centre in Athens, Greece. The analysis was performed using Sanger and next-generation sequencing, comprising 14 different genes. The mutational rates of the confirmed NS-associated genes in the Greek NS population are as follows: PTPN11 32.5%; RIT1 5.8%; SOS1 4.7%; BRAF 1.2%; CBL 1.2%; KRAS 1.2%; MAP2K1 1.2%; RAF1 1.2%; SHOC2 1.2%, corresponding to 50% of positivity in total NS population. The genotype-phenotype analysis showed statistically significant differences in craniofacial dysmorphisms (p = 0.005) and pulmonary valve stenosis (PS) (p < 0.001) frequencies between patients harbouring a pathogenic variant and patients without pathogenic variant in any of the tested genes. Patients with at least a pathogenic variant had 6.71 times greater odds to develop PS compared to pathogenic variant-negative patients (OR = 6.71, 95%; CI = (2.61, 17.27)). PTPN11 positive patients showed higher frequency of epicanthal folds (p = 0.004), ptosis (p = 0.001) and coarseness (p = 0.001) and lower frequency of neurological findings (p = 0.006), compared to patients carrying pathogenic variants in other genes. CONCLUSION: Craniofacial dysmorphism and PS prevail among pathogenic variant positive compared to pathogenic variant negative NS and NS-like patients while neurological defects are less common in PTPN11-affected NS patients compared to patients harbouring pathogenic variants in other genes. The significant prevalence of the Ras/MAPK pathogenic variants (17.4%), other than PTPN11, in Greek NS patients, highlights the necessity of a wider spectrum of molecular diagnosis. WHAT IS KNOWN: • Noonan syndrome (NS) has been associated with pathogenic variants in molecules-components of the Ras/MAPK pathway. • Clinical and genetic description of NS patients worldwide helps establishing personalized monitoring. WHAT IS NEW: • NS and NS-like mutational rate in Greece reaches 50% with pathogenic variants identified mostly in PTPN11 (32.5%), RIT1 (6%) and SOS1 (4.7%) genes. • The risk for pulmonary stenosis increases 6.71-fold in NS patients with a pathogenic variant compared to patients without genetic alterations.


Assuntos
Síndrome de Noonan , Grécia/epidemiologia , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Fenótipo , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas p21(ras)/genética
16.
Adv Clin Exp Med ; 31(10): 1153-1162, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35766895

RESUMO

The human uterus is exposed to epigenetic factors during maturation, which might influence its neural network. The mesh muscle is formed from the circular muscle during development and maturation, and it coordinates the longitudinal and circular muscle function. The uterus has an autonomous neural network with contractility and propagation patterns that determine its reproductive potential and health during pregnancy and delivery. Emerging knowledge on the uterine neural network and mesh muscle ultrastructure contributes to new ideas and solutions on the role of intrauterine pressure and distending fluid intravasation during hysteroscopy, and even allows for improving the operative techniques of myomectomy, adenoma cytoreductive surgery and metroplasty. Good health and well-being start from the in utero stage of life. Prenatal and antenatal care are of paramount importance to minimize the risks of malnutrition and pollutants, and foster a healthy uterus. Research regarding the neural network, function and contractility of the nongravid uterus is a new chapter in gynecology that provides significant information for a better understanding and early diagnosis and treatment of uterine pathologies and early pregnancy support.


Assuntos
Poluentes Ambientais , Útero , Feminino , Gravidez , Humanos , Histeroscopia/métodos , Redes Neurais de Computação
17.
Zootaxa ; 5116(2): 267-291, 2022 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-35391335

RESUMO

A new species is described from the Central part of the North Caucasus (Russia): Blaps caucasica M. Nabozhenko et I. Chigray sp. n. This taxon was interpreted earlier as B. scabriuscula subalpina Mntris, 1832, but both our morphological and molecular genetic analyses showed that it is in fact a separate new species. The following new synonymies are proposed: Blaps verrucosa Adams, 1817 = Blaps scabriuscula Mntris, 1832 syn. n., = Blaps montana Motschulsky, 1839 syn. n.; Blaps lethifera Marsham, 1802 = Blaps pterotapha Mntris, 1832 syn. n. The rank of one species is reinstated: Blaps subalpina Mntris, 1832 stat. resurr. The name Blaps sinuatocollis Solier, 1848 was unambiguously proposed for an infrasubspecific entity and must be excluded from zoological nomenclature. A phylogenetic hypothesis was reconstructed using mitochondrial Cytochrome c oxidase subunit I (COI) sequences for some closely related taxa from the North Caucasus and Ciscaucasia: B. caucasica sp. n., B. lethifera, B. subalpina and B. verrucosa. The resulting tree supports the assignment of two specimens from the Lower Don area (Rostov Region of Russia), earlier interpreted as B. scabriuscula subalpina, to B. lethifera. All known Blaps from Russia and Eastern Europe (countries of the former USSR) are illustrated, and keys on males and females are provided. The status of an invasive species Blaps aff. oblonga Kraatz, 1883 from South Siberia is discussed.


Assuntos
Besouros , Aranhas , Animais , Feminino , Espécies Introduzidas , Masculino , Filogenia , Federação Russa
18.
Curr Res Physiol ; 5: 142-150, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35252881

RESUMO

The cardiovascular performance of salmonids in aquaculture can be impaired by acute climate warming, posing risks for fish survival. Exercise training and functional feeds have been shown to be cardioprotective in mammals but their action on the fish heart and its upper thermal performance has not been studied. To investigate this, rainbow trout were trained at a moderate water velocity of 1 body length per second (bl s-1) for 6 h per day, either alone or in combination with one of two functional feed-supplements, allicin and fucoidan. After 6 weeks of exercise training and feeding, maximum heart rate and the temperature coefficient of heart rate were significantly higher in the trained fish as compared to untrained ones. There was a slight increase in hematocrit in trained control fish reared on a normal diet (TC group) compared to untrained fish fed with the same diet (CC). This implies that exercise training enhanced oxygen delivery to trout tissues via an increase of cardiac blood flow in warm water. However, cardiac thermal tolerance was not affected by exercise training or feeding, except from the temperature of peak heart rate which was higher in the trained group fed with fucoidan supplement (TF) as compared to the untrained group fed with same diet (CF). Allicin supplement caused a significant reduction in the maximum heart rate and the temperature coefficient of heart rate, especially in trained fish, while fucoidan supplement did not cause any effect on heart rate. No differences were observed in growth performance among groups. However, fish fed with fucoidan-supplemented diet had a slight reduction in feed conversion efficiency. We suggest further investigations to understand the antagonistic effect of allicin supplemental feeding and exercise training on cardiovascular performance. More studies are also required to investigate if other exercise training intensities could increase cardiac thermal tolerance.

19.
Audiol Neurootol ; 27(3): 200-207, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35176744

RESUMO

It has been suggested that vascular loops in the cerebellopontine angle and internal auditory canal are involved in the etiology of audio-vestibular symptoms. Several studies have focused on the compression of the eighth cranial nerve by vascular loops but have yielded contradictory results regarding their clinical significance. The aim of this study was to investigate whether vascular loops in this region correlate with audio-vestibular symptoms and which loop features - if any - can potentially lead to symptom manifestation. This systematic review was conducted according to the PRISMA guidelines. We performed on PubMed a literature search from November 2005 to October 2020. The search strategy included the following keywords ("vascular loops" OR "AICA loops" OR "vascular compression syndrome") AND ("hearing loss" OR "tinnitus" OR "vertigo"). Fifteen studies were eligible and included in the analysis. Overall, the studies encompassed a total of 11,788 patients included in this review. The significantly larger group of patients (70%), in which no correlation of symptoms with vascular loops was found, suggests that vascular loops are probably anatomic variations in a substantial majority of cases with an uncommon subset causing some audio-vestibular symptoms. Even within the papers claiming a correlation, there is a multitude of symptoms that did not correlate with vascular loops. It has been suggested by most authors that magnetic resonance imaging should be performed to exclude the role of a vascular loop in the etiology of audio-vestibular symptoms only when vascular compression syndrome is suspected based on clinical indications and not routinely. Further studies would be useful in order to detail the relationship between the vascular structures and the nervous system.


Assuntos
Zumbido , Vestíbulo do Labirinto , Ângulo Cerebelopontino/irrigação sanguínea , Ângulo Cerebelopontino/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Zumbido/diagnóstico , Zumbido/etiologia , Vertigem , Vestíbulo do Labirinto/patologia , Nervo Vestibulococlear
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