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2.
Mar Environ Res ; 201: 106702, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39213892

RESUMEN

Bioturbation in coastal sediments plays a crucial role in biogeochemical cycling. However, a key knowledge gap is the extent to which bioturbation influences bacterial community diversity and ecosystem processes, such as nitrogen cycling. This study paired bacterial diversity, bioturbation activity and in situ flux measurements of oxygen and nitrogen from bioturbated sediments at six estuaries along the East coast of Australia. Bacterial community diversity, composition and predicted functional profiles were similar across burrow and surface sediments but were significantly influenced by bioturbator activity (measured as number of burrows) at sites with higher fine grain content. Sediment oxygen demand increased with bioturbator activity but changes in nitrogen cycling (as measured by fluxes and predicted bacterial functional gene analysis) were more spatially variable and were unrelated to bioturbator activity and bacterial community shifts. This study highlights how bioturbator activity influences bacterial community structure and functioning and what implications this has for biogeochemical cycles in estuarine sediments.


Asunto(s)
Bacterias , Sedimentos Geológicos , Sedimentos Geológicos/microbiología , Sedimentos Geológicos/química , Bacterias/clasificación , Bacterias/genética , Australia , Ecosistema , Monitoreo del Ambiente , Estuarios , Nitrógeno/análisis , Ciclo del Nitrógeno , Biodiversidad
3.
JAMA Netw Open ; 7(7): e2422634, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-39042408

RESUMEN

Importance: Advancements in assisted reproductive technology (ART) have led to an increase in gestational carrier (GC) pregnancies. However, the perinatal outcomes of GC pregnancies remain understudied, necessitating a deeper understanding of their associated risks. Objective: To assess maternal characteristics and obstetric outcomes associated with GC pregnancies. Data Sources: A comprehensive systematic search of publications published before October 31, 2023, using PubMed, Web of Science, Scopus, and Cochrane Library databases was conducted. Study Selection: Two authors selected studies examining obstetric characteristics and outcomes in GC pregnancies with 24 or more weeks' gestation. Studies with insufficient outcome information, unavailable data on gestational surrogacies, and non-English language studies were excluded. Data Extraction and Synthesis: Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, 2 investigators extracted and synthesized both quantitative and qualitative data. Both fixed-effect and random-effect analysis were used to pool data. Main Outcomes and Measures: The primary outcomes were obstetric characteristics and outcomes, including hypertensive disorders, preterm birth, and low birth weight. Secondary outcomes included severe maternal morbidity and mortality associated with GC pregnancies. Results: Six studies from 2011 to 2023 involving 28 300 GC pregnancies and 1 270 662 non-GC pregnancies were included. GCs accounted for 2.5% of in vitro fertilization cycles (59 502 of 2 374 154 cycles) and 3.8% of ART pregnancies (26 759 of 701 047 ART pregnancies). GC pregnancies were more likely to be conceived by frozen embryo transfer compared with non-GC ART pregnancies (odds ratio [OR], 2.84; 95% CI, 1.56-5.15), and rates of single embryo transfer were similar between the 2 groups (OR, 1.18; 95% CI, 0.94-1.48). GCs were rarely nulliparous (6 of 361 patients [1.7%]) and were more likely to have multifetal pregnancies compared with non-GC ART patients (OR, 1.18; 95% CI, 1.02-1.35). Comparator studies revealed lower odds of cesarean delivery (adjusted OR [aOR], 0.42; 95% CI, 0.27-0.65) and comparable rates of hypertensive disorders (aOR, 0.86; 95% CI, 0.45-1.64), preterm birth (aOR, 0.82; 95% CI, 0.68-1.00), and low birth weight (aOR, 0.79; 95% CI, 0.50-1.26) in GC pregnancies vs non-GC ART pregnancies. Comparatively, GC pregnancies had higher odds of hypertensive disorders (aOR, 1.44; 95% CI, 1.13-1.84) vs general (non-GC ART and non-ART) pregnancies with comparable cesarean delivery risk (aOR, 1.06; 95% CI, 0.90-1.25). Preterm birth and low birth weight data lacked a comparative group using multivariate analysis. Severe maternal morbidity and maternal mortality were rare among GCs. Conclusions and Relevance: In this systematic review and meta-analysis, although GC pregnancies had slightly improved outcomes compared with non-GC ART pregnancies, they posed higher risks than general pregnancies. Contributing factors may include ART procedures and increased rates of multiple gestations which influence adverse perinatal outcomes in GC pregnancies.


Asunto(s)
Resultado del Embarazo , Humanos , Embarazo , Femenino , Resultado del Embarazo/epidemiología , Nacimiento Prematuro/epidemiología , Técnicas Reproductivas Asistidas/estadística & datos numéricos , Madres Sustitutas , Adulto , Recién Nacido
4.
Ecol Appl ; 34(4): e2968, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38562000

RESUMEN

Understanding how habitat attributes (e.g., patch area and sizes, connectivity) control recruitment and how this is modified by processes operating at larger spatial scales is fundamental to understanding population sustainability and developing successful long-term restoration strategies for marine foundation species-including for globally threatened reef-forming oysters. In two experiments, we assessed the recruitment and energy reserves of oyster recruits onto remnant reefs of the oyster Saccostrea glomerata in estuaries spanning 550 km of coastline in southeastern Australia. In the first experiment, we determined whether recruitment of oysters to settlement plates in three estuaries was correlated with reef attributes within patches (distances to patch edges and surface elevation), whole-patch attributes (shape and size of patches), and landscape attributes (connectivity). We also determined whether environmental factors (e.g., sedimentation and water temperature) explained the differences among recruitment plates. We also tested whether differences in energy reserves of recruits could explain the differences between two of the estuaries (one high- and one low-sedimentation estuary). In the second experiment, across six estuaries (three with nominally high and three with nominally low sedimentation rates), we tested the hypothesis that, at the estuary scale, recruitment and survival were negatively correlated to sedimentation. Overall, total oyster recruitment varied mostly at the scale of estuaries rather than with reef attributes and was negatively correlated with sedimentation. Percentage recruit survival was, however, similar among estuaries, although energy reserves and condition of recruits were lower at a high- compared to a low-sediment estuary. Within each estuary, total oyster recruitment increased with patch area and decreased with increasing tidal height. Our results showed that differences among estuaries have the largest influence on oyster recruitment and recruit health and this may be explained by environmental processes operating at the same scale. While survival was high across all estuaries, growth and reproduction of oysters on remnant reefs may be affected by sublethal effects on the health of recruits in high-sediment estuaries. Thus, restoration programs should consider lethal and sublethal effects of whole-estuary environmental processes when selecting sites and include environmental mitigation actions to maximize recruitment success.


Asunto(s)
Ostreidae , Animales , Ostreidae/fisiología , Especies en Peligro de Extinción , Estuarios , Dinámica Poblacional , Australia
5.
Fertil Steril ; 122(2): 233-242, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38522502

RESUMEN

OBJECTIVE: To assess national-level trends, characteristics, and outcomes of pregnancies with Turner syndrome in the United States. DESIGN: Cross-sectional study. SETTING: The Healthcare Cost and Utilization Project's National Inpatient Sample. SUBJECTS: A total of 17,865,495 hospital deliveries from 2016-2020. EXPOSURE: A diagnosis of Turner syndrome, identified according to the World Health Organization's International Classification of Disease 10th revision code of Q96. MAIN OUTCOME MEASURES: Obstetrics outcomes related to Turner syndrome, assessed with inverse probability of treatment weighting cohort and multivariable binary logistic regression modeling. RESULTS: The prevalence of pregnant patients with Turner syndrome was 7.0 per 100,000 deliveries (one in 14,235). The number of hospital deliveries with patients who have a diagnosis of Turner syndrome increased from 5.0 to 11.7 per 100,000 deliveries during the study period (adjusted-odds ratio [aOR] for 2020 vs. 2016; 2.18, 95% confidence interval [CI] 1.83-2.60). Pregnant patients with Turner syndrome were more likely to have a diagnosis of pregestational hypertension (4.8% vs. 2.8%; aOR 1.65; 95% CI 1.26-2.15), uterine anomaly (1.6% vs. 0.4%; aOR, 3.01; 95% CI 1.93-4.69), and prior pregnancy losses (1.6% vs. 0.3%; aOR 4.70; 95% CI 3.01-7.32) compared with those without Turner syndrome. For the index obstetric characteristics, Turner syndrome was associated with an increased risk of intrauterine fetal demise (10.9% vs. 0.7%; aOR 8.40; 95% CI 5.30-13.30), intrauterine growth restriction (8.5% vs. 3.5%; aOR 2.11; 95% CI 1.48-2.99), and placenta accreta spectrum (aOR 3.63; 95% CI 1.20-10.97). For delivery outcome, pregnant patients with Turner syndrome were more likely to undergo cesarean delivery (41.6% vs. 32.3%; aOR 1.53; 95% CI 1.26-1.87). Moreover, the odds of periviable delivery (22-25 weeks: 6.1% vs. 0.4%; aOR 5.88; 95% CI 3.47-9.98) and previable delivery (<22 weeks: 3.3% vs. 0.3%; aOR 2.87; 95% CI 1.45-5.69) were increased compared with those without Turner syndrome. CONCLUSIONS: The results of contemporaneous, nationwide assessment in the United States suggest that although pregnancy with Turner syndrome is uncommon this may represent a high-risk group, particularly for intrauterine fetal demise and periviable delivery. Establishing a society-based approach for preconception counseling and antenatal follow-up would be clinically compelling.


Asunto(s)
Resultado del Embarazo , Síndrome de Turner , Humanos , Síndrome de Turner/epidemiología , Síndrome de Turner/diagnóstico , Síndrome de Turner/complicaciones , Embarazo , Femenino , Adulto , Estudios Transversales , Resultado del Embarazo/epidemiología , Estados Unidos/epidemiología , Adulto Joven , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/diagnóstico , Prevalencia , Factores de Riesgo , Parto Obstétrico/estadística & datos numéricos
6.
Dermatology ; 240(1): 26-31, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37879301

RESUMEN

INTRODUCTION: Pyoderma gangrenosum (PG) is a rare, inflammatory dermatologic disease that, as a diagnosis of exclusion with nonspecific histologic features, is difficult to diagnose. As pharmaceutical interest in potential treatments for PG increases, the need for standardized diagnostic criteria to ensure reproducibility, comparability, and external validity of PG research is required. In this study, we aim to characterize the inclusion and exclusion criteria used in the diagnosis of PG in clinical research studies as well as the eligibility of PG in clinical trials. METHODS: A systematic review was conducted to characterize the PG inclusion and exclusion criteria in research studies. An additional search of the USA and international clinical trials databases was conducted as well to capture eligibility criteria for PG trials. RESULTS: Our study revealed a broad range of inclusion and exclusion criteria used to establish the presence or absence of PG. Based on eight distinct categories used to characterize inclusion criteria for research studies, diagnosis by a dermatologist (n = 25, 31.6%), no inclusion criteria listed (n = 21, 26.6%), and clinical and histopathologic features consistent with PG (n = 20, 25.3%) were most common. For current clinical trials, six categories were used to characterize inclusion criteria, of which clinical and histopathologic features consistent with PG (n = 5, 31.3%), identification based on diagnosis of PG (n = 4, 25.0%), and clinical features consistent with PG (n = 3, 18.8%) were the most common. CONCLUSION: This systematic literature review highlights the range of heterogeneity in diagnostic and eligibility criteria used in PG-directed clinical research and current clinical trials and illustrates the need for the development of consensus guidelines and a rigorous framework to enable high-quality future trials for PG.


Asunto(s)
Piodermia Gangrenosa , Humanos , Piodermia Gangrenosa/diagnóstico , Piodermia Gangrenosa/tratamiento farmacológico , Reproducibilidad de los Resultados
7.
JAMA Dermatol ; 159(11): 1274-1275, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37728937

RESUMEN

This survey study investigates the minimal important difference in pain indicating that a patient with pyoderma gangrenosum may be responding to treatment.


Asunto(s)
Piodermia Gangrenosa , Humanos , Piodermia Gangrenosa/diagnóstico , Dolor , Medición de Resultados Informados por el Paciente
8.
Environ Res ; 237(Pt 1): 116947, 2023 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-37611788

RESUMEN

Oyster reefs play a crucial role in the removal of nitrogen (N) from aquatic systems by facilitating nutrient regeneration and denitrification, both in their tissues and shells and surrounding sediments. However, we still have a limited understanding about the contribution of each component of the reefs (e.g. oysters vs sediments) to N processes, and whether rates are dependent on site-specific characteristics. To address these knowledge gaps, we conducted an experiment across six oyster reefs along 1080 km of the Eastern Australian coast with different sediment characteristics. By using in-situ clear and dark incubation chambers, we assessed how benthic metabolism, nutrient and dinitrogen gas (N2) fluxes varied among the following treatments: 'oysters', 'sediments', and 'sediments + oysters' that were used to represent components of the whole reef habitat (i.e. reef matrix vs surrounding sediments vs the interaction among them, respectively), and sites. We found that during dark conditions and at siltier sites, N2 effluxes from oysters can be up to 23 times higher than sediments, while N2 effluxes from chambers with both sediments and oysters were similar to sediment treatments, and lower than oyster treatments. These results can be explained by sediment processes including nutrient assimilation by benthic microalgae and/or lower nutrient diffusion into interstitial space. Additionally, oyster treatments showed an uptake of nitrate (NO3-) that was likely converted into N2, whereas sediment treatments showed an overall release of NO3-. In dark conditions, ammonium (NH4+) fluxes remained consistent across treatments and sites, indicating that any exports from oyster excretion (in those treatments including oysters) were either counterbalanced by or comparable to exports from sediments. This study provides evidence that the crucial contribution of oyster reefs to N removal is dependent on interactions between reef components and environmental factors.

9.
PeerJ ; 11: e15426, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37250718

RESUMEN

Background: Assessing fish assemblages in subtidal and intertidal habitats is challenging due to the structural complexity of many of these systems. Trapping and collecting are regarded as optimal ways to sample these assemblages, but this method is costly and destructive, so researchers also use video techniques. Underwater visual census and baited remote underwater video stations are commonly used to characterise fish communities in these systems. More passive techniques such as remote underwater video (RUV) may be more appropriate for behavioural studies, or for comparing proximal habitats where the broad attraction caused by bait plumes could be an issue. However, data processing for RUVs can be time consuming and create processing bottlenecks. Methods: Here, we identified the optimal subsampling method to assess fish assemblages on intertidal oyster reefs using RUV footage and bootstrapping techniques. We quantified how video subsampling effort and method (systematic vs random) affect the accuracy and precision of three different fish assemblage metrics; species richness and two proxies for the total abundance of fish, MaxNT and MeanCountT, which have not been evaluated previously for complex intertidal habitats. Results: Results suggest that MaxNT and species richness should be recorded in real time, whereas optimal sampling for MeanCountT is every 60 s. Systematic sampling proved to be more accurate and precise than random sampling. This study provides valuable methodology recommendations which are relevant for the use of RUV to assess fish assemblages in a variety of shallow intertidal habitats.


Asunto(s)
Arrecifes de Coral , Peces , Animales , Ecosistema , Censos
12.
Front Genet ; 12: 751647, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34659367

RESUMEN

Background: The synthetic steroid mifepristone is reported to have anti-obesity and anti-diabetic effects in mammals on normal and high-fat diets (HFD). We previously reported that mifepristone blocks the negative effect on life span caused by mating in female Drosophila melanogaster. Methods: Here we asked if mifepristone could protect virgin females from the life span-shortening effect of HFD. Mifepristone was assayed for effects on life span in virgin females, in repeated assays, on regular media and on media supplemented with coconut oil (HFD). The excrement quantification (EX-Q) assay was used to measure food intake of the flies after 12 days mifepristone treatment. In addition, experiments were conducted to compare the effects of mifepristone in virgin and mated females, and to identify candidate mifepristone targets and mechanisms. Results: Mifepristone increased life span of virgin females on regular media, as well as on media supplemented with either 2.5 or 5% coconut oil. Food intake was not reduced in any assay, and was significantly increased by mifepristone in half of the assays. To ask if mifepristone might rescue virgin females from all life span-shortening stresses, the oxidative stressor paraquat was tested, and mifepristone produced little to no rescue. Analysis of extant metabolomics and transcriptomics data suggested similarities between effects of mifepristone in virgin and mated females, including reduced tryptophan breakdown and similarities to dietary restriction. Bioinformatics analysis identified candidate mifepristone targets, including transcription factors Paired and Extra-extra. In addition to shortening life span, mating also causes midgut hypertrophy and activation of the lipid metabolism regulatory factor SREBP. Mifepristone blocked the increase in midgut size caused by mating, but did not detectably affect midgut size in virgins. Finally, mating increased activity of a SREBP reporter in abdominal tissues, as expected, but reporter activity was not detectably reduced by mifepristone in either mated or virgin females. Conclusion: Mifepristone increases life span of virgin females on regular and HFD without reducing food intake. Metabolomics and transcriptomics analyses suggest some similar effects of mifepristone between virgin and mated females, however reduced midgut size was observed only in mated females. The results are discussed regarding possible mifepristone mechanisms and targets.

15.
Diagnosis (Berl) ; 8(4): 421-424, 2021 11 25.
Artículo en Inglés | MEDLINE | ID: mdl-33645932

RESUMEN

OBJECTIVES: Pyoderma gangrenosum (PG) is a chronic ulcerative neutrophilic dermatosis. It presents a diagnostic challenge due to the absence of disease-specific markers or histopathology, lack of universally accepted diagnostic criteria, and many mimicking diseases including necrotizing soft tissue infections (NSTI). PG cases often present first to specialties other than dermatology. We reviewed major educational resources in internal medicine, family medicine, and infectious disease for their coverage of PG. CONTENT: For each specialty, we reviewed five major textbooks, five prominent journals, and any commonly used online resources. Twelve of 15 textbooks mentioned PG, only three of which included a differential, with none including NSTI in the differential. Only two of 13 journals included review articles about PG, and none of these including NSTI in their differential. Interestingly, online resources tended to be the most complete; six of nine contained PG articles, nearly all including a differential and three listing NSTI within it. SUMMARY: We found an underrepresentation of PG among major textbooks and journals in clinical specialties, especially in differentiating PG from its mimickers. While online resources may help fill this gap in knowledge, texts and journals remain essential. Misdiagnosis and resultant mismanagement of PG can lead to disastrous outcomes. OUTLOOK: We recommend that PG be added to the differential diagnoses of chronic ulcers in educational resources. We also suggest the addition of identification and differentiation of PG to learning materials and lectures for providers in specialties who may encounter PG, NSTI, or similarly presenting diseases to address this gap.


Asunto(s)
Piodermia Gangrenosa , Diagnóstico Diferencial , Humanos , Piodermia Gangrenosa/diagnóstico
16.
J Gen Intern Med ; 32(Suppl 1): 56-64, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28271426

RESUMEN

BACKGROUND: Despite accumulating evidence of the important health benefits of bariatric surgery in morbidly obese patients in general, bariatric surgery outcomes are less clear in higher-risk, high-priority populations of patients with BMI ≥ 50 kg/m2. To help the Department of Veterans Affairs (VA) Health Services Research & Development Service (HSR&D) develop a research agenda, we conducted a rapid evidence review to better understand bariatric surgery outcomes in adults with BMI ≥ 50 kg/m2. METHODS: We searched MEDLINE®, the Cochrane Database of Systematic Reviews, the Cochrane Central Registry of Controlled Trials, and ClinicalTrials.gov through June 2016. We included trials and observational studies. We used pre-specified criteria to select studies, abstract data, and rate internal validity and strength of the evidence (PROSPERO registration number CRD42015025348). All decisions were completed by one reviewer and checked by another. RESULTS: Among 1892 citations, we included 23 studies in this rapid review. Compared with usual care, one large retrospective VA study provided limited evidence that bariatric surgery can lead to increased mortality in the first year, but decreased mortality long-term among super obese veterans. Studies that compared different bariatric surgical approaches suggested some differences in weight loss and complications. Laparoscopic gastric bypass generally resulted in greater short-term proportion of excess weight loss than did other procedures. Duodenal switch led to greater long-term weight loss than did gastric bypass, but with more complications. CONCLUSIONS: The published literature that separates the super obese is insufficient for determining the precise balance of benefits and harms of bariatric surgery in this high-risk subgroup. Future studies should evaluate a more complete set of key outcomes with longer follow-up in larger samples of more broadly representative adults.


Asunto(s)
Cirugía Bariátrica/métodos , Obesidad Mórbida/cirugía , Sesgo , Índice de Masa Corporal , Medicina Basada en la Evidencia/métodos , Humanos , Obesidad Mórbida/fisiopatología
17.
IEEE Trans Med Imaging ; 32(10): 1791-803, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23722463

RESUMEN

We present DevStaR, an automated computer vision and machine learning system that provides rapid, accurate, and quantitative measurements of C. elegans embryonic viability in high-throughput (HTP) applications. A leading genetic model organism for the study of animal development and behavior, C. elegans is particularly amenable to HTP functional genomic analysis due to its small size and ease of cultivation, but the lack of efficient and quantitative methods to score phenotypes has become a major bottleneck. DevStaR addresses this challenge using a novel hierarchical object recognition machine that rapidly segments, classifies, and counts animals at each developmental stage in images of mixed-stage populations of C. elegans. Here, we describe the algorithmic design of the DevStaR system and demonstrate its performance in scoring image data acquired in HTP screens.


Asunto(s)
Caenorhabditis elegans/anatomía & histología , Caenorhabditis elegans/crecimiento & desarrollo , Procesamiento de Imagen Asistido por Computador/métodos , Estadios del Ciclo de Vida/fisiología , Fenotipo , Algoritmos , Animales , Microscopía
18.
Diabetol Metab Syndr ; 4(1): 45, 2012 Nov 07.
Artículo en Inglés | MEDLINE | ID: mdl-23134616

RESUMEN

BACKGROUND: The worldwide prevalence of obesity has lead to increased efforts to find therapies to treat obesity-related pathologies. Ceramide is a well-established mediator of several health problems that arise from adipose tissue expansion. The purpose of this study was to determine whether AICAR, an AMPK-activating drug, selectively reduces skeletal muscle ceramide synthesis. METHODS: Murine myotubes and rats were challenged with palmitate and high-fat diet, respectively, to induce ceramide accrual, in the absence or presence of AICAR. Transcript levels of the rate-limiting enzyme in ceramide biosynthesis, serine palmitoyltransferase 2 (SPT2) were measured, in addition to lipid analysis. Student's t-test and ANOVA were used to assess the association between outcomes and groups. RESULTS: Palmitate alone induced an increase in serine palmitoyltransferase 2 (SPT2) expression and an elevation of ceramide levels in myotubes. Co-incubation with palmitate and AICAR prevented both effects. However, ceramide and SPT2 increased with the addition of compound C, an AMPK inhibitor. In rats fed a high-fat diet (HFD), soleus SPT2 expression increased compared with normal chow-fed littermates. Moreover, rats on HFD that received daily AICAR injections had lower SPT2 levels and reduced muscle ceramide content compared with those on HFD only. CONCLUSIONS: These results suggest that AICAR reduces ceramide synthesis by targeting SPT2 transcription, likely via AMPK activation as AMPK inhibition prevented the AICAR-induced improvements. Given the role of skeletal muscle ceramide in insulin resistance, it is tempting to speculate that interventions that activate AMPK may lead to long-term ceramide reduction and improved metabolic function.

19.
Ann Neurol ; 59(1): 21-6, 2006 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-16278862

RESUMEN

Several studies have reported evidence for linkage of late-onset Alzheimer's disease (LOAD) to chromosome 9. Recently, an intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1) was reported to be associated with LOAD. We attempted to replicate this observation by genotyping this polymorphism, rs12344615 (also known as UBQ-8i), in a large sample of 1,544 LOAD cases and 1,642 nondemented controls. We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD.


Asunto(s)
Enfermedad de Alzheimer/genética , Proteínas Portadoras/genética , Proteínas de Ciclo Celular/genética , Polimorfismo Genético , Proteínas Adaptadoras Transductoras de Señales , Enfermedad de Alzheimer/metabolismo , Proteínas Relacionadas con la Autofagia , Proteínas Portadoras/metabolismo , Proteínas de Ciclo Celular/metabolismo , Femenino , Genotipo , Haplotipos , Humanos , Desequilibrio de Ligamiento , Persona de Mediana Edad , Factores de Riesgo
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