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1.
Notas enferm. (Córdoba) ; 25(43): 62-65, jun.2024.
Artigo em Espanhol | LILACS, BDENF - Enfermagem, UNISALUD, InstitutionalDB, BINACIS | ID: biblio-1561284

RESUMO

El síndrome compartimental agudo requiere de la descompresión quirúrgica, mediante fasciotomía, esta técnica debe ser urgente y será clave para evitar la instauración de graves secuelas. El posterior abordaje de estas heridas de difícil y lenta cicatrización suponen un reto para los profesionales de la salud y un problema para la salud pública debido a los altos costes y elevada morbilidad. La terapia de presión negativa (TPN) o cura por vacío (VAC, "vacuum assisted closure") es un tratamiento no invasivo que consigue la curación de las heridas favoreciendo la vascularización, la aparición del tejido de granulación y eliminación del exceso de exudado[AU]


Acute compartment syndrome requires surgical decompression by fasciotomy, this technique must be urgent and will be key to avoid the establishment of serious sequels. The subsequent approach to these wounds, which are difficult and slow to heal, is a challenge for health professionals and a problem for public health due to high costs and high morbidity. Negative pressure therapy (NPWT) or vacuum assisted closure (VAC) is a non-invasive treatment that achieves wound healing by promoting vascularization, the appearance of granulation tissue and elimination of excess exudate[AU]


A síndrome compartimental aguda requer descompressão cirúrgica, por fasciotomia, esta técnica deve ser urgente e será fundamental para evitar o estabelecimento de sequelas graves. O tratamento subsequente destas feridas difíceis e de cicatrização lenta é um desafio para os profissionais de saúde e um problema desaúde pública devido aos elevados custos e à elevada morbilidade. A terapia por pressão negativa (NPWT) ou o encerramento assistido por vácuo (VAC) é um tratamento não invasivo que permite a cicatrização de feridas através da promoção da vascularização, do aparecimento de tecido de granulação e da remoção do excesso de exsudado[AU]


Assuntos
Humanos , Fasciotomia
2.
Surgery ; 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38972770

RESUMO

BACKGROUND: Cowden syndrome is an autosomal-dominant disorder caused by a germline phosphatase and tensin homolog mutation, giving rise to several tumors with an aggressive clinical course. In the thyroid, there are certain histologic criteria that could be related to this syndrome that could be useful for its early detection. We sought to analyze the loss of phosphatase and tensin homolog in thyroid histologic pieces with certain histologic criteria and to determine the percentage of patients diagnosed with Cowden syndrome with this methodology. METHODS: Five hundred thirty-five thyroid specimens collected were retrospectively analyzed (2017-2020). Those samples that presented certain histologic criteria were studied for loss of phosphatase and tensin homolog expression. Patients with loss of expression underwent a clinical study to rule out dermatologic or other lesions compatible with Cowden syndrome. Patients with positive clinical study were referred for genetic study. RESULTS: The phosphatase and tensin homolog study was performed in 6.7% (n = 36) of the thyroidectomy samples, showing loss of expression in 22% (n = 8); the most frequent histologic finding was the presence of multiple monomorphous adenomatous nodules. The samples with loss of expression showed more diffuse oncocytic changes. Of the 8 patients with loss of expression, 5 showed dermatologic lesions that could be associated with Cowden syndrome and 1 had a history of macrocephaly. These patients were referred for genetic study, being positive for Cowden syndromein in one quarter of the cases (n = 2). CONCLUSION: The immunohistochemical study of phosphatase and tensin homolog in pieces of thyroidectomies with histologic criteria suggestive of Cowden syndrome can help in its early diagnosis.

3.
PLoS One ; 19(7): e0302652, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38968237

RESUMO

BACKGROUND: Existing evidence supports the effectiveness of exercise in preventing and treating chronic diseases, yet its integration into clinical practice remains limited. This study protocol aims to address the evidence-practice gap by exploring barriers to exercise prescription in primary care and developing a clinical practice guideline (CPG). METHODS: Employing a qualitative approach, focus groups will be conducted to investigate primary care professionals' challenges in prescribing exercise and patients' adherence to recommendations. Phenomenological analysis will facilitate data interpretation. Data triangulation, expert analysis, and quality criteria will ensure study reliability. The CPG development process is outlined, emphasizing transdisciplinary collaboration and patient involvement. CONCLUSION: The RedExAP study responds to the imperative for evidence-based exercise integration in primary care. The study's combined qualitative exploration and CPG development present the potential to improve health outcomes and cost-effectiveness. By elucidating primary care professionals' and patients' perspectives, the study contributes to enhancing exercise prescription adoption. The innovative transdisciplinary approach aligns with the 2030 Agenda, promoting better population health and greater social well-being, showing promise in alleviating chronic disease burdens. This study's findings lay the groundwork for advancing evidence-based exercise interventions within primary care to transform chronic disease management.


Assuntos
Terapia por Exercício , Atenção Primária à Saúde , Humanos , Doença Crônica , Terapia por Exercício/métodos , Exercício Físico , Grupos Focais
4.
Commun Biol ; 7(1): 796, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38951162

RESUMO

The highly complex structure of the brain requires an approach that can unravel its connectivity. Using volume electron microscopy and a dedicated software we can trace and measure all nerve fibers present within different samples of brain tissue. With this software tool, individual dendrites and axons are traced, obtaining a simplified "skeleton" of each fiber, which is linked to its corresponding synaptic contacts. The result is an intricate meshwork of axons and dendrites interconnected by a cloud of synaptic junctions. To test this methodology, we apply it to the stratum radiatum of the hippocampus and layers 1 and 3 of the somatosensory cortex of the mouse. We find that nerve fibers are densely packed in the neuropil, reaching up to 9 kilometers per cubic mm. We obtain the number of synapses, the number and lengths of dendrites and axons, the linear densities of synapses established by dendrites and axons, and their location on dendritic spines and shafts. The quantitative data obtained through this method enable us to identify subtle traits and differences in the synaptic organization of the samples, which might have been overlooked in a qualitative analysis.


Assuntos
Microscopia Eletrônica , Fibras Nervosas , Sinapses , Animais , Camundongos , Microscopia Eletrônica/métodos , Fibras Nervosas/ultraestrutura , Sinapses/ultraestrutura , Axônios/ultraestrutura , Dendritos/ultraestrutura , Encéfalo/ultraestrutura , Córtex Somatossensorial/ultraestrutura , Camundongos Endogâmicos C57BL , Masculino , Software , Hipocampo/ultraestrutura , Hipocampo/citologia , Microscopia Eletrônica de Volume
5.
J Spinal Cord Med ; : 1-7, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38996222

RESUMO

CONTEXT: The study of epidemiological changes of traumatic spinal cord injury (TSCI) is needed due to its highly variable incidence. OBJECTIVE: To determine the incidence of TSCI in Spain and to describe the trend of clinical and demographic characteristics according to age group during a 10-year period. METHODS: A prospective cohort study was conducted. A multidisciplinary team evaluated all individuals with new TSCI. The data were recorded according to the International Spinal Cord Injury Core Data Sets. RESULTS: In a 10-year period, 933 new patients with TSCI were admitted to the hospital. The annual incidence of TSCI was 6.2 per million. The leading causes of injury were traffic accidents (38.5%), low-level falls (20.6%), and high-level falls (19.1%). Males, age group of 31-45 years, and cervical level of injury were the most common profiles of TSCI. In patients over 60 years,71.5% were injured following a fall, particularly low-level falls (47.2%). In patients under 60 years old, the leading cause of SCI was traffic accidents (46%). The proportion of tetraplegia in patients above 60 years was 68.3%, compared to 43.7% in patients under 60 years of age. Patients in the age group above 60 years were hospitalized with a shorter duration of rehabilitation compared to younger age group. CONCLUSIONS: Compared with globally estimated data reported in previous studies, this research demonstrated a low incidence of TSCI in Spain, suggesting a decrease in the last years. Falls and traffic accidents were the most common causes of TSCI in elderly and youth, respectively. Prevention programs should focus on these issues.

6.
Leukemia ; 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-38997434

RESUMO

SF3B1 mutations frequently occur in cancer yet lack targeted therapies. Clinical trials of XPO1 inhibitors, selinexor and eltanexor, in high-risk myelodysplastic neoplasms (MDS) revealed responders were enriched with SF3B1 mutations. Given that XPO1 (Exportin-1) is a nuclear exporter responsible for the export of proteins and multiple RNA species, this led to the hypothesis that SF3B1-mutant cells are sensitive to XPO1 inhibition, potentially due to altered splicing. Subsequent RNA sequencing after XPO1 inhibition in SF3B1 wildtype and mutant cells showed increased nuclear retention of RNA transcripts and increased alternative splicing in the SF3B1 mutant cells particularly of genes that impact apoptotic pathways. To identify novel drug combinations that synergize with XPO1 inhibition, a forward genetic screen was performed with eltanexor treatment implicating anti-apoptotic targets BCL2 and BCLXL, which were validated by functional testing in vitro and in vivo. These targets were tested in vivo using Sf3b1K700E conditional knock-in mice, which showed that the combination of eltanexor and venetoclax (BCL2 inhibitor) had a preferential sensitivity for SF3B1 mutant cells without excessive toxicity. In this study, we unveil the mechanisms underlying sensitization to XPO1 inhibition in SF3B1-mutant MDS and preclinically rationalize the combination of eltanexor and venetoclax for high-risk MDS.

7.
Bull Math Biol ; 86(9): 106, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38995457

RESUMO

Maximum likelihood estimation is among the most widely-used methods for inferring phylogenetic trees from sequence data. This paper solves the problem of computing solutions to the maximum likelihood problem for 3-leaf trees under the 2-state symmetric mutation model (CFN model). Our main result is a closed-form solution to the maximum likelihood problem for unrooted 3-leaf trees, given generic data; this result characterizes all of the ways that a maximum likelihood estimate can fail to exist for generic data and provides theoretical validation for predictions made in Parks and Goldman (Syst Biol 63(5):798-811, 2014). Our proof makes use of both classical tools for studying group-based phylogenetic models such as Hadamard conjugation and reparameterization in terms of Fourier coordinates, as well as more recent results concerning the semi-algebraic constraints of the CFN model. To be able to put these into practice, we also give a complete characterization to test genericity.


Assuntos
Conceitos Matemáticos , Modelos Genéticos , Mutação , Filogenia , Funções Verossimilhança , Algoritmos
9.
PLoS One ; 19(7): e0305699, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39024221

RESUMO

INTRODUCTION: There is a need to develop harmonized procedures and a Minimum Data Set (MDS) for cross-border Multi Casualty Incidents (MCI) in medical emergency scenarios to ensure appropriate management of such incidents, regardless of place, language and internal processes of the institutions involved. That information should be capable of real-time communication to the command-and-control chain. It is crucial that the models adopted are interoperable between countries so that the rights of patients to cross-border healthcare are fully respected. OBJECTIVE: To optimize management of cross-border Multi Casualty Incidents through a Minimum Data Set collected and communicated in real time to the chain of command and control for each incident. To determine the degree of agreement among experts. METHOD: We used the modified Delphi method supplemented with the Utstein technique to reach consensus among experts. In the first phase, the minimum requirements of the project, the profile of the experts who were to participate, the basic requirements of each variable chosen and the way of collecting the data were defined by providing bibliography on the subject. In the second phase, the preliminary variables were grouped into 6 clusters, the objectives, the characteristics of the variables and the logistics of the work were approved. Several meetings were held to reach a consensus to choose the MDS variables using a Modified Delphi technique. Each expert had to score each variable from 1 to 10. Non-voting variables were eliminated, and the round of voting ended. In the third phase, the Utstein Style was applied to discuss each group of variables and choose the ones with the highest consensus. After several rounds of discussion, it was agreed to eliminate the variables with a score of less than 5 points. In phase four, the researchers submitted the variables to the external experts for final assessment and validation before their use in the simulations. Data were analysed with SPSS Statistics (IBM, version 2) software. RESULTS: Six data entities with 31 sub-entities were defined, generating 127 items representing the final MDS regarded as essential for incident management. The level of consensus for the choice of items was very high and was highest for the category 'Incident' with an overall kappa of 0.7401 (95% CI 0.1265-0.5812, p 0.000), a good level of consensus in the Landis and Koch model. The items with the greatest degree of consensus at ten were those relating to location, type of incident, date, time and identification of the incident. All items met the criteria set, such as digital collection and real-time transmission to the chain of command and control. CONCLUSIONS: This study documents the development of a MDS through consensus with a high degree of agreement among a group of experts of different nationalities working in different fields. All items in the MDS were digitally collected and forwarded in real time to the chain of command and control. This tool has demonstrated its validity in four large cross-border simulations involving more than eight countries and their emergency services.


Assuntos
Técnica Delphi , Incidentes com Feridos em Massa , Humanos , Planejamento em Desastres/métodos , Planejamento em Desastres/normas , Serviços Médicos de Emergência/normas
10.
Diagnostics (Basel) ; 14(13)2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-39001324

RESUMO

A 76-year-old male patient presented to the emergency room with acute decompensated right heart failure and presyncope episodes. Upon admission, his electrocardiogram (ECG) showed sustained monomorphic ventricular tachycardia at 180 bpm, which was electrically cardioverted, and the patient was subsequently admitted to the intensive care unit. The echocardiography showed a very dilated right ventricle (RV) with global systolic dysfunction and akinetic anterior and lateral walls. The coronary angiography was normal. The cardiac magnetic resonance showed signs of fibro-fatty replacement of the RV myocardium. Furthermore, the ECG after cardioversion showed inverted T waves and an epsilon wave in V1-V3 leads and late potentials by signal-averaged ECG. As such, a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) was suspected. However, he presented no familial history of ARVC, was 76 years of age at the time of diagnosis and was asymptomatic until now. Given these considerations, we performed a right ventricular angiography which showed dilatation of the RV with akinetic/dyskinetic bulging, creating the "pile d'assiettes" image suggestive of ARVC. In the case of this patient, the RV angiography contributed to establish a diagnosis of ARVC with a very late presentation, to our knowledge the latest presentation in terms of age described in the literature.

11.
Cancers (Basel) ; 16(13)2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-39001385

RESUMO

We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical-pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical-pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26-0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.

13.
Pediatr Allergy Immunol ; 35(7): e14186, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39016384

RESUMO

Acute respiratory tract infections (RTIs) are one of the most common causes of pediatric consultations/hospitalizations and a major trigger for asthma exacerbations. Some consensus statements have recommended the use of immunostimulants to boost natural defenses against severe or repeated infections. One of the most common immunostimulants is OM-85; while several randomized clinical trials (RCTs) have evaluated its efficacy in preventing acute RTIs and wheezing/asthma exacerbations, results have been conflicting. Similarly, various systematic reviews with meta-analyses (SRMs) on OM-85 have used different strategies, populations, and outcomes; moreover, SRM conclusions are limited when the original studies are highly heterogeneous or have a low quality, hindering the generalizability of the findings. Here we summarize the evidence on the effect of OM-85 to prevent acute RTIs, wheezing/asthma episodes, or loss of asthma control in children, by including and critically evaluating all SRMs published to date. We searched for SRMs on OM-85 in three publication databases and found nine SRMs (seven for RTI, and two for wheezing/asthma). Among those, one had a high confidence evaluation of quality (AMSTAR-2 tool) and found a reduction in the total number of acute RTIs among the OM-85 group. Overall, no strong recommendations can be derived from the existing literature, mainly due to the high heterogeneity among included RCTs and SRMs. Further, large, high-quality RCTs are needed to confirm the true efficacy of OM-85 for the prevention of acute RTIs, asthma development, and asthma exacerbations.


Assuntos
Asma , Sons Respiratórios , Infecções Respiratórias , Criança , Pré-Escolar , Humanos , Adjuvantes Imunológicos/uso terapêutico , Lisados Bacterianos , Extratos Celulares/uso terapêutico , Metanálise como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Sons Respiratórios/efeitos dos fármacos , Infecções Respiratórias/prevenção & controle , Revisões Sistemáticas como Assunto , Resultado do Tratamento
14.
Fam Med ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39018165

RESUMO

BACKGROUND AND OBJECTIVES: Despite increasing numbers of faculty identifying as underrepresented in medicine (URiM) over the last few decades, URiM representation in academic medicine leadership has changed little. The Society of Teachers of Family Medicine funded the Leadership Through Scholarship Fellowship (LTSF) to target this population and provide a framework for scholarly success. Based on responses to open-ended questions from a leadership survey, we characterize how early-career URiM family medicine faculty view leadership and assess attitudes and perceptions of leadership development. METHODS: A survey, developed by survey experts from multiple institutions and consisting of multiple-choice and open-ended questions, was sent to the first two cohorts after the LTSF program. All LTSF participants identified as URiM and as early-career (5 years or less since fellowship or residency) family medicine faculty. Fellowship faculty collected anonymous survey responses through Qualtrics (Qualtrics, LLC). We conducted thematic analysis with emergent and iterative coding by two experienced qualitative researchers. RESULTS: All of the fellows surveyed (N=19) completed the survey. The qualitative researchers identified the following themes: leadership development (with subthemes of collaborative scholarship and request for mentoring), and barriers to leadership and scholarship (with subthemes of lack of time, lack of support, and diminished opportunities for advancement). CONCLUSIONS: These themes represent lessons learned from URiM faculty participating in a single faculty development fellowship. Collaborative scholarship, both as an early-career faculty need and a leadership responsibility, is a new contribution to the existing literature. While identified by URiM family medicine faculty, these themes are likely familiar to early-career faculty across all medical specialties and faculty identities. These lessons can guide senior academic leaders in preparing early-career faculty for leadership in academic medicine.

15.
Ecol Evol ; 14(7): e70005, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38988347

RESUMO

Islands have played a key role in our understanding of rapid evolution. A large body of literature has examined morphological changes in response to insularity and isolation, which has yielded useful generalizations about how animals can adapt to live in very small geographic areas. However, understanding the evolution of morphological variation in insular populations often requires detailed data sets on longitudinal patterns of growth and development, and such studies typically necessitate long-term mark-recapture on a large sample of individuals. Rattlesnakes provide a unique opportunity to address some of these difficulties because the addition of rattle segments to the rattle string occurs with regular periodicity and their size directly correlates with the body size of the snake at the time of the ecdysis cycle generating the segment. Here, we used a large database of rattle segment sizes recorded from island (Isla Coronado Sur, Baja California, Mexico) and mainland (Camp Pendleton, California, United States) populations of Western Rattlesnakes (Crotalus oreganus and C. o. caliginis) that separated approximately 10,000 years ago to compare body sizes at different ecdysis cycles, which allowed us to assess differences in growth rates and patterns of sexual size dimorphism. Our results show that rattlesnakes on Isla Coronado Sur appear to be born smaller and grow more slowly than their mainland counterparts, resulting in a "dwarfed" island population. However, despite significant differences in body size, both populations exhibited the same degree of sexual dimorphism. Our study demonstrates the potential to use rattle characteristics to recover detailed estimates of fundamental demographic parameters.

16.
Clin Exp Dent Res ; 10(4): e914, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38973214

RESUMO

OBJECTIVES: Oronasal fistulas are common sequelae following cleft lip and palate surgery and can significantly impact a patient's quality of life. They result from various factors, including surgical techniques, tissue management, and patient-specific factors. This case report explores the modern approach to oronasal fistula closure using periodontal plastic surgery principles. MATERIALS AND METHODS: The report presents two cases of patients with oronasal fistulas due to previous maxillofacial surgical intervention. These patients underwent microsurgical procedures that involved partial flap thickness preparation of the fistula areas, the use of connective tissue grafts from the palate, and meticulous suturing techniques to ensure graft integrity. The procedures were performed in stages, and postoperative care was provided. RESULTS: Both cases demonstrated successful fistula closure and graft survival. The patients reported improvements in breathing, speech, aesthetics, and quality of life. The second case also included guided bone regeneration and implant placement. CONCLUSIONS: Oronasal fistulas resulting from maxillofacial surgery can be effectively treated using periodontal plastic surgery techniques, significantly improving patients' quality of life and aesthetic outcomes. This approach represents a valuable addition to the existing repertoire of oronasal fistula closure methods.


Assuntos
Fissura Palatina , Fístula Bucal , Procedimentos de Cirurgia Plástica , Humanos , Fístula Bucal/cirurgia , Fístula Bucal/etiologia , Procedimentos de Cirurgia Plástica/métodos , Fissura Palatina/cirurgia , Feminino , Masculino , Doenças Nasais/cirurgia , Retalhos Cirúrgicos/transplante , Fenda Labial/cirurgia , Qualidade de Vida , Adulto , Resultado do Tratamento
17.
Nucleic Acids Res ; 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38953162

RESUMO

Ribosome profiling experiments support the translation of a range of novel human open reading frames. By contrast, most peptides from large-scale proteomics experiments derive from just one source, 5' untranslated regions. Across the human genome we find evidence for 192 translated upstream regions, most of which would produce protein isoforms with extended N-terminal ends. Almost all of these N-terminal extensions are from highly abundant genes, which suggests that the novel regions we detect are just the tip of the iceberg. These upstream regions have characteristics that are not typical of coding exons. Their GC-content is remarkably high, even higher than 5' regions in other genes, and a large majority have non-canonical start codons. Although some novel upstream regions have cross-species conservation - five have orthologues in invertebrates for example - the reading frames of two thirds are not conserved beyond simians. These non-conserved regions also have no evidence of purifying selection, which suggests that much of this translation is not functional. In addition, non-conserved upstream regions have significantly more peptides in cancer cell lines than would be expected, a strong indication that an aberrant or noisy translation initiation process may play an important role in translation from upstream regions.

18.
Front Ophthalmol (Lausanne) ; 4: 1337329, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984133

RESUMO

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still's disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.

19.
Development ; 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39037017

RESUMO

Following up on our previous observation that early B cell factor (EBF) sites are enriched in open chromatin of the developing sensory epithelium of the mouse cochlea, we investigated the effect of deletion of Ebf1 on inner ear development. We used a Cre driver to delete Ebf1 at the otocyst stage prior to development of the cochlea. We examined the cochlea at postnatal day (P) 1 and found that the sensory epithelium had doubled in size but the length of the cochlear duct was unaffected. We also found that deletion of Ebf1 led to ectopic sensory patches in the Kölliker's organ. Innervation of the developing organ of Corti was disrupted with no obvious spiral bundles. The ectopic patches were also innervated. All the extra hair cells (HCs) within the sensory epithelium and Kölliker's organ contained mechanoelectrical transduction channels as indicated by rapid uptake of FM1-43. The excessive numbers of HCs were still present in the adult Ebf1 conditional knockout (cKO) animal. The animals had no detectable auditory brainstem response (ABR) suggesting that this gene is essential for hearing development.

20.
Sci Total Environ ; 944: 173915, 2024 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-38871328

RESUMO

The 2021 Tajogaite eruption in La Palma (Canary Islands, Spain) emitted vast volumes of lava during 85 days, which reached the ocean in several occasions at the western flank of the island. Most of these flows merged to create a primary lava delta, covering an area of 48 ha, with an additional 30 ha underwater. Here we characterize the effects of the lava-seawater interaction on the surrounding marine environment. The area was sampled during two multidisciplinary oceanographic cruises: the first one comprised the days before the lava reached the ocean and after the first contact; and the second took place a month later, when the lava delta was already formed but still receiving lava inputs. Physical-chemical anomalies were found in the whole water column at different depths up to 300 m in all measured parameters, such as turbidity (+9 NTU), dissolved oxygen concentration (-17.17 µmol kg-1), pHT25 (-0.1), and chlorophyll-a concentration (-0.33 mg m-3). Surface temperature increased up to +2.3 °C (28.5 °C) and surface salinity showed increases and decreases of -1.01 and +0.70, respectively, in a radius of 4 km around the lava delta. In the water column, the heated waters experimented a lava-induced upwelling, bringing deeper, nutrient-rich waters to shallower depths; however, this feature did not trigger any phytoplankton bloom. In fact, integrated chlorophyll-a showed an abrupt decrease of -41 % in just two days and -69 % a month later, compared to prior conditions. The chlorophyll-a depletion reached a distance larger than 2.5 km (not delimited).


Assuntos
Clorofila , Água do Mar , Água do Mar/química , Espanha , Clorofila/análise , Monitoramento Ambiental , Erupções Vulcânicas , Clorofila A , Salinidade , Fitoplâncton
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