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1.
Otol Neurotol ; 45(5): 572-579, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38728561

RESUMEN

INTRODUCTION: Studies on incidence and prevalence of vestibular disorders tend to focus on small pockets of patients recruited from specialized clinics and often exclude measures of vestibular function. The objectives of the study were to characterize patients with common vestibular disorders, estimate the prevalence of common vestibular disorders, and ascertain whether patients with vestibular disorders experience increased risks of falls and morbidity. MATERIALS AND METHODS: This retrospective cohort study includes both inpatient and outpatient routine clinical care data culled from a nationally representative, population-based sample. Patients were included if their record in the TriNetX Diamond Cohort comprised at least one vestibular function test or vestibular diagnosis. The main outcome measures were diagnosis with a vestibular disorder, a fall, or a common medical comorbidity (e.g., diabetes, cerebrovascular disease). RESULTS: The cohort includes n = 4,575,724 patients, of which 55% (n = 2,497,136) had a minimum of one vestibular diagnosis. Patients with vestibular diagnoses were 61.3 ± 16.6 years old (mean ± standard deviation), 67% women, 28% White race (69% unknown race), and 30% of non-Hispanic or Latino ethnicity (66% unknown ethnicity). The prevalence of vestibular disorders was estimated at 2.98% (95% confidence interval [CI]: 2.98-2.98%). Patients with vestibular diagnoses experienced a significantly greater odds of falls (odds ratio [OR] = 1.04; 95% CI: 1.02-1.05), cerebrovascular disease (OR = 1.42; 95% CI: 1.40-1.43), ischemic heart disease (OR = 1.17; 95% CI: 1.16-1.19), and diabetes (OR = 1.14; 95% CI: 1.13-1.15), among others. DISCUSSION: Vestibular disorders affect an estimated 3% of the U.S. population, after weighting. Patients with these disorders are at greater risk for many common, consequential medical conditions.


Asunto(s)
Accidentes por Caídas , Comorbilidad , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/epidemiología , Femenino , Persona de Mediana Edad , Masculino , Anciano , Estudios Retrospectivos , Prevalencia , Adulto , Accidentes por Caídas/estadística & datos numéricos , Trastornos Cerebrovasculares/epidemiología , Trastornos Cerebrovasculares/complicaciones , Estudios de Cohortes , Diabetes Mellitus/epidemiología , Anciano de 80 o más Años
2.
Front Physiol ; 15: 1369788, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38699143

RESUMEN

The perceptual and motor coordination problems experienced following return from spaceflight reflect the sensory adaptation to altered gravity. The purpose of this study was to develop a ground-based analog that replicates similar sensorimotor impairment using a standard measures test battery and subjective feedback from experienced crewmembers. This Sensorimotor Disorientation Analog (SDA) included varying levels of sensorimotor disorientation through combined vestibular, visual, and proprioceptive disruptions. The SDA was evaluated on five previously flown astronauts to compare with their postflight experience and functional motor performance immediately (Return (R)+0 days) and +24 h (R+1) after landing. The SDA consisted of galvanic vestibular stimulation (GVS), visual disruption goggles, and a weighted suit to alter proprioceptive feedback and replicate perceived heaviness postflight. Astronauts reported that GVS alone replicated ∼50-90% of their postflight performance with the weighted suit fine-tuning the experience to replicate an additional 10%-40% of their experience. Astronauts did not report feeling that the disruption goggles represented either the visual disruptions or illusory sensations that they experienced, nor did they impact motor performance in postflight tasks similarly. Based on these results, we recommend an SDA including the GVS and the weighted suit. These results provide a more realistic and portable SDA framework to provide transient spaceflight-relevant sensorimotor disruptions for use in countermeasure testing and as a pre-flight training tool.

3.
Am J Otolaryngol ; 45(4): 104321, 2024 Apr 21.
Artículo en Inglés | MEDLINE | ID: mdl-38696894

RESUMEN

INTRODUCTION: Persistent postural-perceptual dizziness (PPPD) and vestibular migraine (VM) share symptoms of visual vertigo and motion sickness that can be confusing for clinicians to distinguish. We compare the severity of these symptoms and dynamic subjective visual vertical (dSVV) in these two common vestibular conditions. METHOD: Twenty-nine patients with PPPD, 37 with VM, and 29 controls were surveyed for subjective symptoms using the visual vertigo analogue scale (VVAS) and motion sickness susceptibility questionnaire during childhood (MSA) and the past 10 years (MSB). dSVV is a measure of visual dependence measures perception of verticality against a rotating background (5 deg./s). RESULTS: VVAS revealed contextual differences for dizziness between those with PPPD and VM. Ratings of visual vertigo were most severe in PPPD, less in VM, and mild in controls (VVAS PPPD 27.1, VM 11.2, control 4.6, p < 0.001). MSA was more severe in VM than in PPPD or control (12.8 vs 7.6 vs 8.5, p = 0.01). MSB was more severe in VM than controls (MSB score 12.9 VS 8.1 p = 0.009) but was not different than PPPD (MSB score 10.0, p = 0.10). dSVV alignment was similar among the three groups (p = 0.83). Both VM and PPPD groups had greater simulator sickness than controls after completing the dSVV. CONCLUSIONS: Patients with PPPD report more visual vertigo than those with VM, but a history of motion sickness as a child is more common in VM. Additionally, the environmental context that induces visual vertigo is different between PPPD and VM.

4.
Front Rehabil Sci ; 5: 1384151, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38606004

RESUMEN

The clinical diagnosis of benign paroxysmal positional vertigo (BPPV) is confirmed from observing the direction, intensity, and duration of nystagmus from unique head positions that advantage gravity to overcome the inertia of otoconia displaced inside the semicircular canals. This case series highlights BPPV with atypical nystagmus presentations relative to the head position. Clinicians should carefully observe symptoms and nystagmus presentations regardless of the testing position and utilize technology and rules of vestibular physiology to enhance their diagnostic acumen.

5.
Commun Biol ; 7(1): 371, 2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38575811

RESUMEN

Cardiac function requires appropriate proteins in each chamber. Atria requires slow myosin to act as reservoirs, while ventricles demand fast myosin for swift pumping. Myosins are thus under chamber-biased cis-regulation, with myosin gene expression imbalances leading to congenital heart dysfunction. To identify regulatory inputs leading to cardiac chamber-biased expression, we computationally and molecularly dissected the quail Slow Myosin Heavy Chain III (SMyHC III) promoter that drives preferential expression to the atria. We show that SMyHC III gene states are orchestrated by a complex Nuclear Receptor Element (cNRE) of 32 base pairs. Using transgenesis in zebrafish and mice, we demonstrate that preferential atrial expression is achieved by a combinatorial regulatory input composed of atrial activation motifs and ventricular repression motifs. Using comparative genomics, we show that the cNRE might have emerged from an endogenous viral element through infection of an ancestral host germline, revealing an evolutionary pathway to cardiac chamber-specific expression.


Asunto(s)
Atrios Cardíacos , Pez Cebra , Ratones , Animales , Pez Cebra/genética , Atrios Cardíacos/metabolismo , Ventrículos Cardíacos , Miosinas/metabolismo , Receptores Citoplasmáticos y Nucleares/metabolismo
6.
Audiol Neurootol ; 2024 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-38493767

RESUMEN

INTRODUCTION: Spatial navigation, the ability to move through one's environment, is a complex skill utilized in everyday life. The effects of specific vestibular end-organ deficits and hearing impairments on spatial navigation have received little to no attention. We hypothesized that hearing impairment adversely affects spatial navigation and that bi-modal impairments (vestibular and hearing) further impair navigation ability. METHODS: Data from 182 participants in the Baltimore Longitudinal Study of Aging who had interpretable results for the video head impulse test (vHIT), cervical (cVEMP) and ocular (oVEMP) vestibular evoked myogenic potentials, audiometric testing, and the triangle completion test (TCT) were retrospectively analyzed. Multiple linear regression, controlling for age, sex, and cognition, was employed to identify predictors of TCT performance in terms of end-point error, angle deviation, and distance walked. RESULTS: oVEMP abnormalities were associated with larger end-point error (p=0.008) and larger angle deviation (p=0.002) but were not associated with distance walked (p=0.392). Abnormalities on cVEMP and vHIT were not associated with distance walked (p=0.835, p=0.300), end-point error (p=0.256, p=0.808), or angle deviation (p=0.192, p=0.966). Compared with normal hearing adults, hearing impaired adults walked a shorter distance during the TCT (p=0.049) but had similar end-point error (p=0.302) and angle deviation (p=0.466). There was no interaction between vestibular and hearing function for predicting spatial navigation ability. CONCLUSION: In this cohort analysis, utricular dysfunction and hearing impairment were associated with poorer spatial navigation performance. We postulate that hearing impairment negatively affects one's ability to use real-time, intrinsic auditory cues and/or prior experience to guide navigation.

7.
Philos Trans R Soc Lond B Biol Sci ; 379(1898): 20220500, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38310933

RESUMEN

Endocrine-disrupting chemicals (EDCs) represent a global threat to human health and the environment. In vertebrates, lipophilic EDCs primarily act by mimicking endogenous hormones, thus interfering with the transcriptional activity of nuclear receptors (NRs). The demonstration of the direct translation of these mechanisms into perturbation of NR-mediated physiological functions in invertebrates, however, has rarely proven successful, as the modes of action of EDCs in vertebrates and invertebrates seem to be distinct. In the present work, we investigated the members of the NR superfamily in a bivalve mollusk, the Mediterranean mussel Mytilus galloprovincialis. In addition to annotating the M. galloprovincialis NR complement, we assessed the potential developmental functions and susceptibility to EDC challenge during early development by gene expression analyses. Our results indicate that a majority of mussel NRs are dynamically expressed during early development, including receptors characterized by a potential susceptibility to EDCs. This study thus indicates that NRs are major regulators of early mussel development and that NR-mediated endocrine disruption in the mussel could be occurring at a larger scale and at earlier stages of the life cycle than previously anticipated. Altogether, these findings will have significant repercussions for our understanding of the stability of natural mussel populations. This article is part of the theme issue 'Endocrine responses to environmental variation: conceptual approaches and recent developments'.


Asunto(s)
Mytilus , Animales , Humanos , Mytilus/genética , Receptores Citoplasmáticos y Nucleares/metabolismo
8.
Sci Total Environ ; 920: 170800, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38342445

RESUMEN

Fundamental approaches to the study of groundwater rely on investigating the spatial and temporal distribution of stable and radioactive isotopes and other anthropogenic compounds in natural waterbodies. The most often used tracers for estimating groundwater flow paths and residence times, groundwater/surface water interaction as well as tracing chemical (contamination) sources include stable isotopes of water (δ 18O and δ 2H), radiocarbon (14C; t1/2 = 5730 a), tritium (3H; t1/2 = 12.43 a) as well as unreactive fluorine-containing gases (e.g., chlorofluorocarbons CCl3F or CFC-11; CCl2F3 or CFC-12; C2Cl3F3 or CFC-113; and SF6). While gas tracers are usually referred to as transient tracers and are appropriate for investigating modern flow systems, the isotopic tracers are often used to investigated paleo or regional flow systems. Stable isotopes of water can also be used to investigate groundwater/surface water interactions. Another, thus far been less frequently used group of groundwater tracers, are cosmo- and geo- genic short-lived radioisotopes. These isotopes are uniquely suited for studying a wide range of groundwater problems that have short time scales including high aquifer vulnerability to quantitative and qualitative impacts and groundwater discharge to surface waters. Here, we discuss and compare the applications of radio­sulphur (35S; half-life t1/2 = 87 d), radio­beryllium (7Be; t1/2 = 53 d), radio­phosphorus (32/33P; combined t1/2 = 33 d), natural tritium (3H; t1/2 = 12.43 a), radon (222Rn; t1/2 = 3.8 d) and short-lived radium (224/223Ra; combined t1/2 = 5.2 d). The paper discusses the principles of the individual tracer methods, focusing on the isotopes' input functions or values, on sampling techniques, and on methods of analyses. Case studies that applied a combined use of the tracers are referred to for readers who wish to learn more about the application of the so far underused cosmo- and geo- genic radioisotopes as aquatic tracers.

9.
Sci Rep ; 14(1): 3512, 2024 02 12.
Artículo en Inglés | MEDLINE | ID: mdl-38347021

RESUMEN

The vestibulo-collic reflex generates neck motor commands to produce head-on-trunk movements that are essential for stabilizing the head relative to space. Here we examined the effects of vestibular loss on head-on-trunk kinematics during voluntary behavior. Head and trunk movements were measured in individuals with vestibular schwannoma before and then 6 weeks after unilateral vestibular deafferentation via surgical resection of the tumor. Movements were recorded in 6 dimensions (i.e., 3 axes of rotation and 3 axes of translation) using small light-weight inertial measurement units while participants performed balance and gait tasks. Kinematic measures differed between individuals with vestibular schwannoma (at both time points) and healthy controls for the more challenging exercises, namely those performed in tandem position or on an unstable surface without visual input. Quantitative assessment of the vestibulo-ocular reflex (VOR) revealed a reduction in VOR gain for individuals with vestibular schwannoma compared to control subjects, that was further reduced following surgery. These findings indicated that the impairment caused by either the tumor or subsequent surgical tumor resection altered head-on-trunk kinematics in a manner that is not normalized by central compensation. In contrast, we further found that head-on-trunk kinematics in individuals with vestibular schwannoma were actually comparable before and after surgery. Thus, taken together, our results indicate that vestibular loss impacts head-on-trunk kinematics during voluntary balance and gait behaviors, and suggest that the neural mechanisms mediating adaptation alter the motion strategies even before surgery in a manner that may be maladaptive for long-term compensation.


Asunto(s)
Neuroma Acústico , Vestíbulo del Laberinto , Humanos , Neuroma Acústico/cirugía , Reflejo Vestibuloocular , Cuello , Marcha , Movimientos de la Cabeza
10.
Development ; 151(4)2024 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-38270401

RESUMEN

A model organism in developmental biology is defined by its experimental amenability and by resources created for the model system by the scientific community. For the most powerful invertebrate models, the combination of both has already yielded a thorough understanding of developmental processes. However, the number of developmental model systems is still limited, and their phylogenetic distribution heavily biased. Members of one of the largest animal lineages, the Spiralia, for example, have long been neglected. In order to remedy this shortcoming, we have produced a detailed developmental transcriptome for the bivalve mollusk Mytilus galloprovincialis, and have expanded the list of experimental protocols available for this species. Our high-quality transcriptome allowed us to identify transcriptomic signatures of developmental progression and to perform a first comparison with another bivalve mollusk: the Pacific oyster Crassostrea gigas. To allow co-labelling studies, we optimized and combined protocols for immunohistochemistry and hybridization chain reaction to create high-resolution co-expression maps of developmental genes. The resources and protocols described here represent an enormous boost for the establishment of Mytilus galloprovincialis as an alternative model system in developmental biology.


Asunto(s)
Crassostrea , Mytilus , Animales , Mytilus/genética , Filogenia , Crassostrea/genética , Transcriptoma/genética , Perfilación de la Expresión Génica
11.
JAMA Otolaryngol Head Neck Surg ; 150(2): 93-98, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38095893

RESUMEN

Importance: The dizziness associated with cervical spondylosis is a controversial topic given that many experts believe that cervical spondylosis is a common cause of dizziness, whereas others do not believe it exists. Objective: To compare the risk of dizziness between patients with cervical spondylosis and matched controls (ie, patients with lumbar spondylosis after propensity score matching [PSM]). Design, Setting, and Participants: This cohort study used medical claims data from the National Health Insurance Research Database of Taiwan for patients 60 years or older with cervical or lumbar spondylosis newly diagnosed in any outpatient department between January 1, 2010, and December 31, 2015. Patients diagnosed with cervical spondylosis were included as the study cohort, and those diagnosed with lumbar spondylosis who were matched to the study cohort via PSM were selected as the control cohort. Both cohorts were followed up for 1 year unless they were diagnosed with dizziness, censored by death, or withdrew from the health insurance program. Data analysis was performed from August 9 to September 20, 2022. Main Outcomes and Measures: The main outcome was the date of outpatient diagnosis of dizziness. The risks of dizziness were compared between groups. The relative risk and incidence rate difference were calculated. Results: A total of 3638 patients with cervical spondylosis (mean [SD] age, 67.9 [7.1] years; 2024 [55.6%] male) and 3638 patients with lumbar spondylosis (mean [SD] age, 68.0 [7.1] years; 2024 [55.6%] male) after PSM were selected as the study and control cohorts, respectively. The patients with cervical spondylosis had higher risk of dizziness than matched controls, with a 1-year relative risk of 1.20 (95% CI, 1.03-1.39). The 1-year incidence of dizziness was 10.2% (95% CI, 9.2%-11.2%) in patients with cervical spondylosis and 8.6% (95% CI, 7.7%-9.5%) in the matched group of lumbar spondylosis. The incidence rate difference between the groups was 1.6% (95% CI, 0.3%-3.0%). Conclusions and Relevance: These data support the association between dizziness and cervical spondylosis, but the small difference between groups reveals that dizziness associated with cervical spondylosis is uncommon. Clinicians should be wary of diagnosing a cervical cause for dizziness based on an actual history of cervical spondylosis.


Asunto(s)
Mareo , Espondilosis , Humanos , Masculino , Anciano , Femenino , Estudios de Cohortes , Mareo/etiología , Mareo/complicaciones , Espondilosis/complicaciones , Espondilosis/epidemiología , Vértigo , Riesgo , Vértebras Cervicales , Estudios Retrospectivos
12.
Sci Rep ; 13(1): 16213, 2023 09 27.
Artículo en Inglés | MEDLINE | ID: mdl-37758749

RESUMEN

Head kinematics are altered in individuals with vestibular schwannoma (VS) during short duration gait tasks [i.e., Functional Gait Assessment (FGA)], both before and after surgery, yet whether these differences extend to longer duration gait exercises is currently unknown. Here we examined the effects of vestibular loss and subsequent compensation on head kinematics in individuals with VS during gait exercises of relatively extended versus short duration (< 10 versus 30 s), compared to age-matched controls. Six-dimensional head movements were recorded during extended and short duration gait exercises before and then 6 weeks after sectioning of the involved vestibular nerve (vestibular neurectomy). Standard functional, physiological, and subjective clinical assessments were also performed at each time point. Kinematics were differentially altered in individuals with vestibular loss at both time points during extended versus short duration exercises. Range of motion was significantly reduced in extended tasks. In contrast, movement variability predominately differed for the short duration exercises. Overall, our results indicate that quantifying head kinematics during longer duration gait tasks can provide novel information about how VS individuals compensate for vestibular loss, and suggest that measurements of range of motion versus variability can provide information regarding the different strategies deployed to maintain functional locomotion.


Asunto(s)
Movimientos de la Cabeza , Neuroma Acústico , Humanos , Fenómenos Biomecánicos , Terapia por Ejercicio , Marcha , Locomoción
13.
Nat Commun ; 14(1): 5846, 2023 09 20.
Artículo en Inglés | MEDLINE | ID: mdl-37730813

RESUMEN

Single-cell open chromatin profiling via scATAC-seq has become a mainstream measurement of open chromatin in single-cells. Here we present epiAneufinder, an algorithm that exploits the read count information from scATAC-seq data to extract genome-wide copy number alterations (CNAs) for individual cells, allowing the study of CNA heterogeneity present in a sample at the single-cell level. Using different cancer scATAC-seq datasets, we show that epiAneufinder can identify intratumor clonal heterogeneity in populations of single cells based on their CNA profiles. We demonstrate that these profiles are concordant with the ones inferred from single-cell whole genome sequencing data for the same samples. EpiAneufinder allows the inference of single-cell CNA information from scATAC-seq data, without the need of additional experiments, unlocking a layer of genomic variation which is otherwise unexplored.


Asunto(s)
Secuenciación de Inmunoprecipitación de Cromatina , Variaciones en el Número de Copia de ADN , Variaciones en el Número de Copia de ADN/genética , Algoritmos , Cromatina/genética
14.
Isotopes Environ Health Stud ; 59(4-6): 529-538, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37565800

RESUMEN

Radium-226 detection in sediment samples is generally executed by means of gamma-ray spectrometry. Data evaluation relies (besides the 186.2 keV 226Ra gamma peak) on the combined analysis of major gamma peaks that are produced by the short-lived radon (222Rn) daughters 214Pb and 214Bi. Precondition for this detection approach is equilibrium decay of all members of the decay chain between 226Ra and 214Bi. In closed systems, this equilibrium is reached after about five half-lives of 222Rn (19 days). However, a closed system can only be guaranteed if the capsule which contains the sample prevents diffusive escape of radon. Such radon-tightness cannot be guaranteed for a wide range of plastic materials. Due to its polymer structure, plastic material generally tends to allow radon diffusion and hence radon loss from the sample resulting in a disturbance of the required decay equilibrium. The paper introduces an approach that allows quantifying radon loss from sample capsules by direct radon measurements using mobile radon detection equipment. The experimental findings are supported by theoretical considerations. An examined alternative approach based on the offset of the 186.2 keV data point from an efficiency function that is calculated exclusively from short-lived radon progeny peaks in the gamma-ray spectrum did not prove to be applicable due to a lack of supporting peaks in the low-energy section of the spectrum.


Asunto(s)
Contaminantes Radiactivos del Aire , Monitoreo de Radiación , Radio (Elemento) , Radón , Radón/análisis , Contaminantes Radiactivos del Aire/análisis , Hijas del Radón/análisis , Espectrometría gamma/métodos , Radio (Elemento)/análisis , Monitoreo de Radiación/métodos
15.
Laryngoscope Investig Otolaryngol ; 8(3): 758-762, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37342103

RESUMEN

Objectives: To develop a novel remote head impulse test (rHIT), and to provide preliminary data validating the rHIT vestibular-ocular reflex (VOR) gains against the in-clinic vHIT. Methods: A convenience sample of 10 patients referred for vestibular assessment at our institution was recruited. In-clinic vHIT was used to quantify lateral VOR gains. Patients subsequently underwent an rHIT protocol, whereby patients performed active, lateral head rotations while their eyes and heads were recorded using a laptop camera and video-conferencing software. The vHIT and rHIT VOR gains were compared using paired t-tests, and a Pearson correlation coefficient between the gains was calculated. Absolute accuracy, sensitivity, and specificity of the rHIT were additionally calculated. Results: Of the 10 patients recruited, 4 were male, and the average ± standard deviation (SD) age was 61.4 ± 15.3 years. As determined by the vHIT, 2 patients had normal bilateral VOR gains, 6 with unilateral vestibular hypofunction, and 2 with bilateral vestibular hypofunction. The correlation between the rHIT and vHIT gains was 0.73 (p < .001). The rHIT exhibited an absolute accuracy of 75.0%, sensitivity of 70.0%, and specificity of 80.0%. When ears had a vHIT VOR gain less than 0.40, the rHIT exhibited 100.0% accuracy. Conversely, 60.0% of deficient ears with vHIT VOR gains greater than 0.40 were incorrectly categorized by the rHIT. Conclusion: The rHIT may be better suited for detecting more severe vestibular deficiencies. Future iterations of the rHIT should aim to increase the video frame-rate capabilities to detect subtler VOR impairments. Level of Evidence: 4.

16.
Mol Oncol ; 17(7): 1192-1211, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37195379

RESUMEN

Faithful and timely repair of DNA double-strand breaks (DSBs) is fundamental for the maintenance of genomic integrity. Here, we demonstrate that the meiotic recombination co-factor MND1 facilitates the repair of DSBs in somatic cells. We show that MND1 localizes to DSBs, where it stimulates DNA repair through homologous recombination (HR). Importantly, MND1 is not involved in the response to replication-associated DSBs, implying that it is dispensable for HR-mediated repair of one-ended DSBs. Instead, we find that MND1 specifically plays a role in the response to two-ended DSBs that are induced by irradiation (IR) or various chemotherapeutic drugs. Surprisingly, we find that MND1 is specifically active in G2 phase, whereas it only marginally affects repair during S phase. MND1 localization to DSBs is dependent on resection of the DNA ends and seemingly occurs through direct binding of MND1 to RAD51-coated ssDNA. Importantly, the lack of MND1-driven HR repair directly potentiates the toxicity of IR-induced damage, which could open new possibilities for therapeutic intervention, specifically in HR-proficient tumors.


Asunto(s)
Reparación del ADN , Recombinación Homóloga , Humanos , Reparación del ADN/genética , Recombinación Homóloga/genética , Roturas del ADN de Doble Cadena , Reparación del ADN por Recombinación , Fase S , Proteínas de Ciclo Celular/metabolismo
17.
BMJ Case Rep ; 16(5)2023 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-37247949

RESUMEN

This case demonstrates the successful identification and treatment of atypical posterior semicircular canal benign paroxysmal positional vertigo (BPPV) based on a unique presentation of positional nystagmus, the resultant nystagmus from repositioning manoeuvers, and restored function of the affected semicircular canal. This case illustrates the importance of completing a comprehensive clinical examination and the value for incorporating the video head impulse test as well as adjusting treatment based on testing and patient response when managing variant cases of BPPV.


Asunto(s)
Vértigo Posicional Paroxístico Benigno , Nistagmo Patológico , Humanos , Vértigo Posicional Paroxístico Benigno/diagnóstico , Vértigo Posicional Paroxístico Benigno/terapia , Canales Semicirculares , Nistagmo Patológico/diagnóstico , Examen Físico , Posicionamiento del Paciente
18.
Environ Monit Assess ; 195(5): 601, 2023 Apr 21.
Artículo en Inglés | MEDLINE | ID: mdl-37081198

RESUMEN

In many cases, shallow coastal lagoons are, on the one hand, vulnerable habitats for birds and marine ecosystems and, on the other hand, threatened by discharging nutrient-laden surface waters and groundwater. In particular, the localization and quantification of submarine groundwater discharge (SGD) is of key concern in this regard. The presented study aimed at investigating SGD into a vulnerable coastal lagoon that is strongly impacted by evaporation applying a multi-tracer approach. The joint application of radionuclides (222Rn, 223Ra, 224Ra), stable water isotopes (δ18O, δ2H) and the water salinity as environmental water tracers allowed evaluating the suitability of the individual parameters in this specific type of environment. Whilst stable isotope and salinity data were difficult to construe in terms of SGD occurrence due to the intense impact of evaporation, a radon mass balance allowed localising SGD areas within the lagoon and quantifying the related SGD flux rates. In addition, a 224Ra/223Ra ratio analysis revealed information on the apparent age of the discharged groundwater, and hence on the flushing intensity of the lagoon. Besides these site-specific results, the study allowed the following general conclusions regarding the suitability of the applied tracers: (i) we verified the suitability of a radon mass balance approach for proving/disproving SGD occurrence and quantifying SGD fluxes in shallow coastal lagoons strongly impacted by evaporation; (ii) we showed that the impact of evaporation may impede the use of water stable isotope and salinity data as SGD indicators in such specific environments; (iii) we demonstrated that the tidal impact on a lagoon water body during a sampling campaign can be compensated by adapting sampling schedule and cruise track to the tidal cycle.


Asunto(s)
Agua Subterránea , Radón , Ecosistema , Monitoreo del Ambiente/métodos , Radioisótopos/análisis , Radón/análisis , Agua , Agua de Mar
19.
Otolaryngol Head Neck Surg ; 169(3): 669-678, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36861848

RESUMEN

OBJECTIVE: Assessment of recovery following vestibular loss has been limited by the lack of bedside measures in clinical settings. Here, we used the video ocular counter-roll (vOCR) test to study otolith-ocular function and compensatory effect of neck proprioception in patients at different stages of vestibular loss. STUDY DESIGN: Case-control study. SETTING: Tertiary care center. METHODS: Fifty-six subjects were recruited including patients with acute (9 ± 2 days [mean ± standard error of mean]), subacute (61 ± 11 days), and chronic (1009 ± 266 days) unilateral loss of vestibular function, as well as a group of healthy controls. We used a video-oculography method based on tracking the iris for vOCR measurement. To examine the effect of neck inputs, vOCR was recorded during two simple tilt maneuvers in all subjects while seated: 30° head-on-body tilt and 30° head-and-body tilt. RESULTS: The vOCR responses evolved at different stages following vestibular loss with improvement of the gains in the chronic stage. The deficit was more pronounced when the whole body was tilted (acute: 0.08 ± 0.01, subacute: 0.11 ± 0.01, chronic: 0.13 ± 0.02, healthy control: 0.18 ± 0.01), and the gain of vOCR improved when the head was tilted on the body (acute: 0.11 ± 0.01, subacute: 0.14 ± 0.01, chronic: 0.13 ± 0.02, healthy control: 0.17 ± 0.01). The time course of vOCR response was affected as well with reduced amplitude and slower response in the acute stage of vestibular loss. CONCLUSION: The vOCR test can be valuable as a clinical marker to measure vestibular recovery and compensatory effect of neck proprioception in patients at different stages following loss of vestibular function.


Asunto(s)
Membrana Otolítica , Vestíbulo del Laberinto , Humanos , Estudios de Casos y Controles , Cara , Cuello , Reflejo Vestibuloocular
20.
Cells ; 12(6)2023 03 10.
Artículo en Inglés | MEDLINE | ID: mdl-36980205

RESUMEN

One of the most fundamental discoveries in human biology was that of the existence of essential micronutrients that the body cannot synthesize but nonetheless requires for proper functioning [...].


Asunto(s)
Receptores de Ácido Retinoico , Tretinoina , Humanos , Tretinoina/farmacología , Receptores X Retinoide
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