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1.
Nature ; 630(8015): 54-58, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38648852

RESUMO

Large-scale outflows driven by supermassive black holes are thought to have a fundamental role in suppressing star formation in massive galaxies. However, direct observational evidence for this hypothesis is still lacking, particularly in the young universe where star-formation quenching is remarkably rapid1-3, thus requiring effective removal of gas4 as opposed to slow gas heating5,6. Although outflows of ionized gas are frequently detected in massive distant galaxies7, the amount of ejected mass is too small to be able to suppress star formation8,9. Gas ejection is expected to be more efficient in the neutral and molecular phases10, but at high redshift these have only been observed in starbursts and quasars11,12. Here we report JWST spectroscopy of a massive galaxy experiencing rapid quenching at a redshift of 2.445. We detect a weak outflow of ionized gas and a powerful outflow of neutral gas, with a mass outflow rate that is sufficient to quench the star formation. Neither X-ray nor radio activity is detected; however, the presence of a supermassive black hole is suggested by the properties of the ionized gas emission lines. We thus conclude that supermassive black holes are able to rapidly suppress star formation in massive galaxies by efficiently ejecting neutral gas.

2.
Nature ; 629(8010): 53-57, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38447669

RESUMO

Local and low-redshift (z < 3) galaxies are known to broadly follow a bimodal distribution: actively star-forming galaxies with relatively stable star-formation rates and passive systems. These two populations are connected by galaxies in relatively slow transition. By contrast, theory predicts that star formation was stochastic at early cosmic times and in low-mass systems1-4. These galaxies transitioned rapidly between starburst episodes and phases of suppressed star formation, potentially even causing temporary quiescence-so-called mini-quenching events5,6. However, the regime of star-formation burstiness is observationally highly unconstrained. Directly observing mini-quenched galaxies in the primordial Universe is therefore of utmost importance to constrain models of galaxy formation and transformation7,8. Early quenched galaxies have been identified out to redshift z < 5 (refs. 9-12) and these are all found to be massive (M⋆ > 1010 M⊙) and relatively old. Here we report a (mini-)quenched galaxy at z = 7.3, when the Universe was only 700 Myr old. The JWST/NIRSpec spectrum is very blue (U-V = 0.16 ± 0.03 mag) but exhibits a Balmer break and no nebular emission lines. The galaxy experienced a short starburst followed by rapid quenching; its stellar mass (4-6 × 108 M⊙) falls in a range that is sensitive to various feedback mechanisms, which can result in perhaps only temporary quenching.


Assuntos
Galáxias , Fatores de Tempo , Astros Celestes , Meio Ambiente Extraterreno/química
3.
Nature ; 621(7978): 267-270, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37467786

RESUMO

Large dust reservoirs (up to approximately 108 M⊙) have been detected1-3 in galaxies out to redshift z ≃ 8, when the age of the Universe was only about 600 Myr. Generating substantial amounts of dust within such a short timescale has proven challenging for theories of dust formation4,5 and has prompted the revision of the modelling of potential sites of dust production6-8, such as the atmospheres of asymptotic giant branch stars in low-metallicity environments, supernova ejecta and the accelerated growth of grains in the interstellar medium. However, degeneracies between different evolutionary pathways remain when the total dust mass of galaxies is the only available observable. Here we report observations of the 2,175 Å dust attenuation feature, which is well known in the Milky Way and galaxies at z ≲ 3 (refs. 9-11), in the near-infrared spectra of galaxies up to z ≃ 7, corresponding to the first billion years of cosmic time. The relatively short timescale implied for the formation of carbonaceous grains giving rise to this feature12 suggests a rapid production process, possibly in Wolf-Rayet stars or supernova ejecta.

4.
Nature ; 592(7855): 534-536, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33883729

RESUMO

Gravitational interactions between the Large Magellanic Cloud (LMC) and the stellar and dark matter halo of the Milky Way are expected to give rise to disequilibrium phenomena in the outer Milky Way1-7. A local wake is predicted to trail the orbit of the LMC, and a large-scale overdensity is predicted to exist across a large area of the northern Galactic hemisphere. Here we report the detection of both the local wake and northern overdensity (hereafter the 'collective response') in a map of the Galaxy based on 1,301 stars at Galactocentric distances between 60 and 100 kiloparsecs. The location of the wake is in good agreement with an N-body simulation that includes the dynamical effect of the LMC on the Milky Way halo. The density contrast of the wake and collective response are stronger in the data than in the simulation. The detection of a strong local wake is independent evidence that the Magellanic clouds are on their first orbit around the Milky Way. The wake traces the path of the LMC, which will provide insight into the orbit of the LMC, which in turn is a sensitive probe of the mass of the LMC and the Milky Way. These data demonstrate that the outer halo is not in dynamical equilibrium, as is often assumed. The morphology and strength of the wake could be used to test the nature of dark matter and gravity.

5.
Nucleic Acids Res ; 52(6): e32, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38412294

RESUMO

Data from both bulk and single-cell whole-genome DNA methylation experiments are under-utilized in many ways. This is attributable to inefficient mapping of methylation sequencing reads, routinely discarded genetic information, and neglected read-level epigenetic and genetic linkage information. We introduce the BISulfite-seq Command line User Interface Toolkit (BISCUIT) and its companion R/Bioconductor package, biscuiteer, for simultaneous extraction of genetic and epigenetic information from bulk and single-cell DNA methylation sequencing. BISCUIT's performance, flexibility and standards-compliant output allow large, complex experimental designs to be characterized on clinical timescales. BISCUIT is particularly suited for processing data from single-cell DNA methylation assays, with its excellent scalability, efficiency, and ability to greatly enhance mappability, a key challenge for single-cell studies. We also introduce the epiBED format for single-molecule analysis of coupled epigenetic and genetic information, facilitating the study of cellular and tissue heterogeneity from DNA methylation sequencing.


Assuntos
Metilação de DNA , Epigênese Genética , Sequenciamento de Nucleotídeos em Larga Escala , Software , Epigenômica , Análise de Sequência de DNA , Sulfitos
6.
Immunology ; 171(2): 235-249, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37947218

RESUMO

The incidence of systemic lupus erythematosus (SLE) is about nine times higher in women than in men, and the underlying mechanisms that contribute to this gender bias are not fully understood. Previously, using lupus-prone (SWR × NZB)F1 (SNF1) mice, we have shown that the intestinal immune system could play a role in the initiation and progression of disease in SLE, and depletion of gut microbiota produces more pronounced disease protection in females than in males. Here, we show that the gut permeability features of lupus-prone female SNF1 mice at juvenile ages directly correlate with the expression levels of pro-inflammatory factors, faecal IgA abundance and nAg reactivity and the eventual systemic autoantibody levels and proteinuria onset. Furthermore, we observed that the disease protection achieved in female SNF1 mice upon depletion of gut microbiota correlates with the diminished gut inflammatory protein levels, intestinal permeability and circulating microbial DNA levels. However, faecal microbiota transplant from juvenile male and females did not result in modulation of gut inflammatory features or permeability. Overall, these observations suggest that the early onset of intestinal inflammation, systemic autoantibody production and clinical stage disease in lupus-prone females is linked to higher gut permeability in them starting at as early as juvenile age. While the higher gut permeability in juvenile lupus-prone females is dependent on the presence of gut microbes, it appears to be independent of the composition of gut microbiota.


Assuntos
Autoimunidade , Lúpus Eritematoso Sistêmico , Feminino , Humanos , Masculino , Camundongos , Animais , Função da Barreira Intestinal , Sexismo , Camundongos Endogâmicos NZB , Autoanticorpos , Modelos Animais de Doenças
7.
J Neurophysiol ; 131(3): 492-508, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38264784

RESUMO

Spike timing-based representations of sensory information depend on embedded dynamical frameworks within neuronal networks that establish the rules of local computation and interareal communication. Here, we investigated the dynamical properties of olfactory bulb circuitry in mice of both sexes using microelectrode array recordings from slice and in vivo preparations. Neurochemical activation or optogenetic stimulation of sensory afferents evoked persistent gamma oscillations in the local field potential. These oscillations arose from slower, GABA(A) receptor-independent intracolumnar oscillators coupled by GABA(A)-ergic synapses into a faster, broadly coherent network oscillation. Consistent with the theoretical properties of coupled-oscillator networks, the spatial extent of zero-phase coherence was bounded in slices by the reduced density of lateral interactions. The intact in vivo network, however, exhibited long-range lateral interactions that suffice in simulation to enable zero-phase gamma coherence across the olfactory bulb. The timing of action potentials in a subset of principal neurons was phase-constrained with respect to evoked gamma oscillations. Coupled-oscillator dynamics in olfactory bulb thereby enable a common clock, robust to biological heterogeneities, that is capable of supporting gamma-band spike synchronization and phase coding across the ensemble of activated principal neurons.NEW & NOTEWORTHY Odor stimulation evokes rhythmic gamma oscillations in the field potential of the olfactory bulb, but the dynamical mechanisms governing these oscillations have remained unclear. Establishing these mechanisms is important as they determine the biophysical capacities of the bulbar circuit to, for example, maintain zero-phase coherence across a spatially extended network, or coordinate the timing of action potentials in principal neurons. These properties in turn constrain and suggest hypotheses of sensory coding.


Assuntos
Neurônios , Bulbo Olfatório , Feminino , Masculino , Camundongos , Animais , Bulbo Olfatório/fisiologia , Neurônios/fisiologia , Potenciais de Ação/fisiologia , Sinapses/fisiologia , Odorantes
8.
Bioinformatics ; 39(12)2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-38092060

RESUMO

SUMMARY: In whole genome sequencing data, polymerase chain reaction amplification results in duplicate DNA fragments coming from the same location in the genome. The process of preparing a whole genome bisulfite sequencing (WGBS) library, on the other hand, can create two DNA fragments from the same location that should not be considered duplicates. Currently, only one WGBS-aware duplicate marking tool exists. However, it only works with the output from a single tool, does not accept streaming input or output, and requires a substantial amount of memory relative to the input size. Dupsifter provides an aligner-agnostic duplicate marking tool that is lightweight, has streaming capabilities, and is memory efficient. AVAILABILITY AND IMPLEMENTATION: Source code and binaries are freely available at https://github.com/huishenlab/dupsifter under the MIT license. Dupsifter is implemented in C and is supported on macOS and Linux.


Assuntos
Metilação de DNA , Sulfitos , Sequenciamento Completo do Genoma/métodos , Análise de Sequência de DNA/métodos , Software , DNA/genética
9.
Eur J Nucl Med Mol Imaging ; 51(4): 978-990, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38049658

RESUMO

PURPOSE: A same-day PET imaging agent capable of measuring PD-L1 status in tumors is an important tool for optimizing PD-1 and PD-L1 treatments. Herein we describe the discovery and evaluation of a novel, fluorine-18 labeled macrocyclic peptide-based PET ligand for imaging PD-L1. METHODS: [18F]BMS-986229 was synthesized via copper mediated click-chemistry to yield a PD-L1 PET ligand with picomolar affinity and was tested as an in-vivo tool for assessing PD-L1 expression. RESULTS: Autoradiography showed an 8:1 binding ratio in L2987 (PD-L1 (+)) vs. HT-29 (PD-L1 (-)) tumor tissues, with >90% specific binding. Specific radioligand binding (>90%) was observed in human non-small-cell lung cancer (NSCLC) and cynomolgus monkey spleen tissues. Images of PD-L1 (+) tissues in primates were characterized by high signal-to-noise, with low background signal in non-expressing tissues. PET imaging enabled clear visualization of PD-L1 expression in a murine model in vivo, with 5-fold higher uptake in L2987 (PD-L1 (+)) than in control HT-29 (PD-L1 (-)) tumors. Moreover, this imaging agent was used to measure target engagement of PD-L1 inhibitors (peptide or mAb), in PD-L1 (+) tumors as high as 97%. CONCLUSION: A novel 18F-labeled macrocyclic peptide radioligand was developed for PET imaging of PD-L1 expressing tissues that demonstrated several advantages within a nonhuman primate model when compared directly to adnectin- or mAb-based ligands. Clinical studies are currently evaluating [18F]BMS-986229 to measure PD-L1 expression in tumors.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Domínio de Fibronectina Tipo III , Radioisótopos de Flúor , Neoplasias Pulmonares , Proteínas Recombinantes , Humanos , Camundongos , Animais , Antígeno B7-H1/metabolismo , Ligantes , Macaca fascicularis/metabolismo , Tomografia por Emissão de Pósitrons/métodos , Peptídeos/química
10.
Mol Cell Proteomics ; 21(7): 100256, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35688383

RESUMO

Identifying protein-protein and other proximal interactions is central to dissecting signaling and regulatory processes in cells. BioID is a proximity-dependent biotinylation method that uses an "abortive" biotin ligase to detect proximal interactions in cells in a highly reproducible manner. Recent advancements in proximity-dependent biotinylation tools have improved efficiency and timing of labeling, allowing for measurement of interactions on a cellular timescale. However, issues of size, stability, and background labeling of these constructs persist. Here we modified the structure of BioID2, derived from Aquifex aeolicus BirA, to create a smaller, highly active, biotin ligase that we named MicroID2. Truncation of the C terrminus of BioID2 and addition of mutations to alleviate blockage of biotin/ATP binding at the active site of BioID2 resulted in a smaller and highly active construct with lower background labeling. Several additional point mutations improved the function of our modified MicroID2 construct compared with BioID2 and other biotin ligases, including TurboID and miniTurbo. MicroID2 is the smallest biotin ligase reported so far (180 amino acids [AAs] for MicroID2 versus 257 AAs for miniTurbo and 338 AAs for TurboID), yet it demonstrates only slightly less labeling activity than TurboID and outperforms miniTurbo. MicroID2 also had lower background labeling than TurboID. For experiments where precise temporal control of labeling is essential, we in addition developed a MicroID2 mutant, termed lbMicroID2 (low background MicroID2), that has lower labeling efficiency but significantly reduced biotin scavenging compared with BioID2. Finally, we demonstrate utility of MicroID2 in mass spectrometry experiments by localizing MicroID2 constructs to subcellular organelles and measuring proximal interactions.


Assuntos
Biotina , Proteômica , Biotinilação , Ligases , Espectrometria de Massas , Mapeamento de Interação de Proteínas/métodos , Proteômica/métodos
11.
Am J Emerg Med ; 77: 154-157, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38150985

RESUMO

OBJECTIVE: Buprenorphine is an effective treatment for opioid use disorder (OUD). Patients in the emergency department (ED) can be initiated or continued on buprenorphine as a bridge to follow-up in the outpatient setting, but gaps in care may arise. The objective was to evaluate the impact of buprenorphine to-go packs as a continuing treatment option for patients presenting to the ED with OUD across a health system. METHODS: Adult patients discharged with a buprenorphine to-go pack from one of ten EDs within a major health system were included. The primary outcomes assessed within 30 days of ED discharge were: (1) return to a health system ED, and (2) fill history of buprenorphine in the state prescription drug monitoring program database. Data was analyzed using descriptive statistics in Microsoft Excel (Redmond, WA). RESULTS: A total of 124 patients received buprenorphine to-go packs. The sample was primarily male (79; 63.7%), white (89; 71.8%), on Medicaid (79; 63.7%), and had a mean age of 40.9 years. A total of 43 patients (34.7%) were initiated on buprenorphine for the first time, while 81 (65.3%) had received buprenorphine (prescription or to-go) previously. At 30 days post-visit, 76 (61.3%) had filled buprenorphine prescriptions, and 40 (32.3%) returned to an ED within the health system for opioid withdrawal (17; 42.5%), non-OUD-related reasons (22; 55%), or overdose (1; 2.5%). CONCLUSION: The implementation of a system-wide buprenorphine to-go supply at ED discharge is a feasible option to provide continuity of care to patients with OUD.


Assuntos
Buprenorfina , Transtornos Relacionados ao Uso de Opioides , Adulto , Estados Unidos , Humanos , Masculino , Buprenorfina/uso terapêutico , Antagonistas de Entorpecentes/uso terapêutico , Tratamento de Substituição de Opiáceos , Serviço Hospitalar de Emergência , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico
12.
BMC Nephrol ; 25(1): 200, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38890600

RESUMO

Malakoplakia is a rare inflammatory disorder believed to result from a defect in macrophage phagocytic function triggering a granulomatous reaction. It can present with genitourinary, gastrointestinal, or cutaneous manifestations in immunocompromised or, less commonly, immunocompetent hosts. We describe a case of renal malakoplakia in a young, otherwise healthy patient presenting with nephromegaly and sepsis following an E. coli urinary tract infection. We discuss diagnosis and management, including antibiotic selection and the decision to pursue nephrectomy. This case highlights the potential for kidney recovery with prolonged antibiotic therapy in conjunction with adjunct immunomodulatory therapies and source control.


Assuntos
Infecções por Escherichia coli , Malacoplasia , Infecções Urinárias , Humanos , Malacoplasia/complicações , Malacoplasia/etiologia , Infecções Urinárias/complicações , Infecções Urinárias/tratamento farmacológico , Infecções por Escherichia coli/complicações , Masculino , Antibacterianos/uso terapêutico , Adulto , Feminino , Escherichia coli/isolamento & purificação
13.
J Pediatr Orthop ; 44(3): 168-173, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38014718

RESUMO

BACKGROUND: Lower extremity valgus is a commonly described factor associated with patellofemoral instability (PFI) and, if identified before skeletal maturity, can be treated with guided growth. The prevalence of valgus alignment in the pediatric and adolescent PFI population is largely unknown. PURPOSE: The aim of this study was to report the prevalence of valgus alignment in adolescent patients presenting with PFI; with secondary assessment of high-grade valgus (zone II or III), coronal asymmetry, and associations of these findings with body mass index (BMI). STUDY DESIGN: A retrospective cohort study. METHODS: A total of 279 consecutive patients (349 knees) with a diagnosis of PFI presenting to a single orthopedic pediatric sport medicine surgeon were identified. A retrospective chart review was performed to collect demographic and clinical data, chronologic and bone age, sex, BMI, mechanism of injury, and the presence of osteochondral fracture. Full-length standing hip-to-ankle alignment radiographs were graded for knee alignment mechanical zone utilizing standard linear femoral head center to talar center assessment. In addition, mechanical axis deviation, mechanical lateral distal femoral angle and medial proximal tibial angle (MPTA) were also calculated. RESULTS: Mean patient age was 14.0±2.5 years. There were 162 (58.1%) females and mean BMI was 24.3±6.4. Seventy patients (25.1%) had bilateral PFI. Standing alignment radiographs were available for 81.4% of knees (n=284). Valgus alignment was present in 172 knees with PFI (60.6%). High-grade valgus, defined as zone 2 or greater, was present in 66 knees (23.3%). Overall, 48.9% had asymmetry of coronal alignment (n=139). The mean mechanical lateral distal femoral angle was 85.4±2.8 and the mean MPTA was 88.2±2.6. There was a greater MPTA in female patients (88.8±2.4 vs. 87.5±2.7, P <0.001). A higher BMI (24.87±6.95, P =0.03) was associated with valgus alignment. CONCLUSIONS: There is a high (60%) prevalence of lower extremity valgus in adolescent patients presenting with PFI, with nearly 1 in 4 presenting with high-grade valgus. The treatment team should be aware of this association as it may be an important consideration in the pediatric and adolescent PFI populations. LEVEL OF EVIDENCE: Level III.


Assuntos
Geno Valgo , Osteoartrite do Joelho , Adolescente , Humanos , Criança , Feminino , Masculino , Geno Valgo/cirurgia , Estudos Retrospectivos , Extremidade Inferior/cirurgia , Articulação do Joelho/cirurgia , Fêmur/cirurgia , Tíbia/cirurgia
14.
Ann Surg Oncol ; 30(2): 994-1005, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36344710

RESUMO

BACKGROUND: Laparoscopic surgery is considered a standard treatment for benign adrenal tumors; however, no consensus has been reached on the optimal resection technique for adrenocortical carcinomas. This study aims to evaluate the safety and efficacy of laparoscopic surgery and open surgery in the management of adrenocortical carcinoma. METHODS: The Cochrane, Embase, PubMed, Scopus, and Web of Science databases were searched for articles from inception to May 2022, by two independent reviewers using the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. The review was registered prospectively on the PROSPERO database (CRD42022316050). RESULTS: From 183 studies screened, 11 studies met the eligibility criteria, with a total of 1617 patients with adrenocortical carcinoma undergoing either laparoscopic surgery (n = 472) or open surgery (n = 1145). Open surgery demonstrated a lower rate of positive resection margin compared with laparoscopic surgery (odds ratio [OR] 1.52, 95% confidence interval [CI] 1.10-2.10; I2 = 0%). Additionally, open surgery had more favorable overall survival (OR 0.56, 95% CI 0.44-0.72; I2 = 0%) and recurrence-free rates (OR 0.60, 95% CI 0.42-0.85; I2 = 38%) than laparoscopic surgery at 3 years. Hospital stay was shorter for laparoscopic surgery than open surgery (mean difference - 2.49 days, 95% CI - 2.95 to - 2.04; I2 = 45%). CONCLUSIONS: Open surgery should still be considered the standard operative approach; however, laparoscopic surgery could be regarded as an effective and safe operation for selected adrenocortical carcinoma cases with appropriate laparoscopic expertise. Further randomized controlled studies with tumor stage- and resection margin-dependent survival analysis are necessary to ascertain the safety and efficacy of the treatment.


Assuntos
Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Laparoscopia , Humanos , Carcinoma Adrenocortical/cirurgia , Margens de Excisão , Laparoscopia/métodos , Neoplasias do Córtex Suprarrenal/cirurgia , Resultado do Tratamento
15.
Am J Otolaryngol ; 44(4): 103862, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37001394

RESUMO

Soft-tissue calcifications in the head and neck are relatively common and are the result of a wide variety of benign and malignant pathologies. They can present a diagnostic challenge given the broad range of underlying etiologies. Uremic tumoral calcinosis (UTC) is a rare complication of end-stage renal disease (ESRD) resulting from metastatic soft tissue calcification. Common sites include periarticular soft tissues of the shoulders, elbows, and hands (Pan and Chen, 2016). UTC can also affect the cervical spine and mimic osteosarcomas (Zhou et al., 2018). We present the case of a 71-year-old female with hypertension, left carotid artery stenosis, mitral valve prolapse, and ESRD secondary to diabetes mellitus type II (DMII) on peritoneal dialysis who was found to have large, heterogeneous, bilateral calcified neck masses. Given her clinical history, laboratory results, and imaging findings, she was diagnosed with UTC. In addition to this case, we provide an overview of tumoral calcinosis (TC) and a differential diagnosis for calcified lesions of the head and neck.


Assuntos
Calcinose , Falência Renal Crônica , Humanos , Feminino , Idoso , Calcinose/complicações , Calcinose/diagnóstico por imagem , Pescoço , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Vértebras Cervicais , Cabeça
16.
Am J Otolaryngol ; 44(6): 103987, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37579600

RESUMO

BACKGROUND: While the etiology of Bell's palsy (BP) is largely unknown, current evidence shows it may occur secondary to the immune response following a viral infection. Recently, BP has been reported as a clinical manifestation of coronavirus disease (COVID-19). OBJECTIVES: To investigate an association between COVID-19 infection and BP. Additionally, to evaluate the need for COVID-19 testing in patients who present with BP. METHODS: Hospital records of patients who presented to a single tertiary care center with BP in 2020 and 2021 were reviewed for presenting symptoms, demographics, COVID-19 infection and vaccination status. RESULTS: There was no statistically significant difference between patients with BP who had a positive or negative COVID test in terms of sex, BMI, age, race, smoking history or alcohol use. All 7 patients with BP and a positive COVID test were unvaccinated. Of the total cohort of 94 patients, 82 % were unvaccinated at the time of the study. None of the 17 patients who were vaccinated had a positive COVID test. A history of BP showed no statistical significance (10.3 % vs 14.3 %, p-value 0.73). CONCLUSION: We discovered a limited cohort of patients who underwent COVID-19 testing at the time of presentation for BP. Though there have been recent studies suggesting a COVID-19 and BP, we were unable to clearly identify a relationship between COVID-19 and BP. Interestingly, all patients with facial paralysis and COVID-19 were unvaccinated. To further study this relationship, we recommend consideration of a COVID-19 test for any patient that presents with facial paralysis.


Assuntos
Paralisia de Bell , COVID-19 , Paralisia Facial , Humanos , Paralisia de Bell/epidemiologia , Paralisia de Bell/etiologia , Paralisia de Bell/diagnóstico , Centros de Atenção Terciária , Teste para COVID-19 , COVID-19/complicações , COVID-19/epidemiologia
17.
Hum Genet ; 141(3-4): 759-783, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35320418

RESUMO

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive pigmentary retinopathy, and vestibular dysfunction. The degree and onset of hearing loss vary among subtypes I, II, and III, while blindness often occurs in the second to fourth decades of life. Usher type III (USH3), characterized by postlingual progressive sensorineural hearing loss, varying levels of vestibular dysfunction, and varying degrees of visual impairment, typically manifests in the first to second decades of life. While USH3 is rare, it is highly prevalent in certain populations. RP61, USH3, and USH3A symbolize the same disorder, with the latter symbol used more frequently in recent literature. This review focuses on the clinical features, epidemiology, molecular genetics, treatment, and research advances for sensory deficits in USH3A.


Assuntos
Perda Auditiva Neurossensorial , Retinose Pigmentar , Síndromes de Usher , Humanos , Síndromes de Usher/epidemiologia , Síndromes de Usher/genética , Síndromes de Usher/terapia
18.
Tob Control ; 2022 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-35667834

RESUMO

BACKGROUND: Multiple tobacco and e-cigarette product (MTEP) use, the concurrent use of two or more different types of tobacco and/or e-cigarettes products, is common among young people in the US. Changes in patterns of MTEP use among US youth between 2014 and 2020 were identified and the determinants of MTEP use were examined. METHODS: Four years of repeated cross-sectional data from the US National Youth Tobacco Survey of middle and high school students from grade 6 to 12 (Ntotal=77 402). Multigroup latent class analysis (LCA) was applied to the data series to allow for simultaneous identification of MTEP use patterns between 2014 and 2020. Logistic regression was used to predict class membership on demographic and tobacco-related variables. FINDINGS: Over the 7-year period, LCA identified three patterns: minimal/non-users (MNU: ~89.8%), mostly occasional e-cigarette and cigarette users (MOEC: ~9%) and polytobacco users (POLY: ~1.2%). From 2014 to 2020, MNU increased from 86.4% to 92% (p<0.05), while MOEC and POLY decreased from 11.2% to 7.9% and from 2.4% to 0.1%, respectively. The probability of regular e-cigarette use increased from 0 to 2.3% among MNU, 6% to 31.9% among MOEC and 29.6% to 67.6% among POLY (p<0.05). In binomial logistic regression, being male, in high school, non-heterosexual, living with someone who uses tobacco at home, having cognitive difficulties, having lower perceptions of tobacco's danger and exposure to tobacco marketing were associated with greater odds of MOEC and POLY than MNU. CONCLUSIONS: There was an increase in regular e-cigarette use in all three classes, but a corresponding decrease in the proportion of MTEP use. Public health interventions to discourage uptake of e-cigarettes, such as tighter restrictions on marketing to minors, are warranted and there is a need to consider disparities in the determinants of MTEP use.

19.
Curr Pain Headache Rep ; 26(6): 405-414, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35380406

RESUMO

PURPOSE OF REVIEW: Individuals with chronic pain are significantly more likely to have experienced overwhelming trauma early and often in key developmental years. There is increasing acknowledgment that childhood trauma disrupts how individuals process and cope with both physical and emotional pain. Emerging studies acknowledge elevated rates of non-suicidal self-injury (NSSI) in chronic pain populations. This review provides a theoretical framework to understand the relationship between NSSI behavior and pain experience in persons with chronic pain and childhood trauma histories. We discuss how NSSI may act to regulate neurobiological (e.g., endogenous opioid systems) and psychological (e.g., heightened negative affect and emotion dysregulation) systems affected by childhood trauma, leading to temporary pain relief and a cycle of negative reinforcement perpetuating NSSI. As these concepts are greatly understudied in pain populations, this review focuses on key areas relevant to chronic pain that may provide a testable, conceptual framework to support hypothesis generation, future empirical investigation, and intervention efforts. RECENT FINDINGS: See Fig. 1. See Fig. 1.


Assuntos
Dor Crônica , Comportamento Autodestrutivo , Adaptação Psicológica , Analgésicos Opioides , Emoções , Humanos , Comportamento Autodestrutivo/psicologia
20.
J Pers ; 90(4): 595-614, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34687045

RESUMO

OBJECTIVE: Research has consistently illustrated the impact of personality on marital quality. Given the inherent dyadic nature of relationships, recent investigations have integrated spouse-rated personality to account for both spouses' perspectives. Grounded in Contemporary Integrative Interpersonal Theory, we viewed personality through an interpersonal lens and conceptualized maladaptive interpersonal functioning as interpersonal problems. The present study examined the incremental validity of spouse-rated interpersonal problems beyond self-reported interpersonal problems to predict marital quality within an expanded actor-partner interdependence model (APIM). METHOD: Within a community sample of heterosexual, married couples (N = 110), we used expanded APIMs, integrating both self-report and spouse-rating, to test the incremental validity of spouse-perceived interpersonal problems over self-perceived interpersonal problems on marital quality through a model comparison approach. We tested for possible gender differences in effects. RESULTS: Spouse perception, notably spouse-rated partner effects, appears to be the most frequent predictor of marital quality, and self-perception had less impact. CONCLUSION: Given the implications marital quality has on health and well-being, intervention efforts capitalizing on acceptance of spouses' perspectives are likely to lead to greater improvements in quality and overall health.


Assuntos
Relações Interpessoais , Casamento , Humanos , Personalidade , Autoimagem , Cônjuges
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