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1.
Langmuir ; 40(20): 10825-10833, 2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38700247

RESUMEN

A key knowledge gap in the emerging field of nanofluidics concerns how the ionic composition and ion-transport properties of a nanoconfined solution differ from those of a contacting bulk solution. We and others have been using potentiometric concentration cells, where a nanopore or nanotube membrane separates salt solutions of differing concentrations to explore this issue. The membranes studied contained a fixed pore/tube wall anionic charge, which ideally would prohibit anions and salt from entering the pore/tube-confined solution. We have been investigating experimental conditions that allow for this ideally permselective cation state to be achieved. Results of potentiometric investigations of a polymeric nanopore membrane (10 ± 2 nm-diameter pores) with anionic charge due to carbonate are presented here. While studies of this type have been reported using alkaline metal and alkaline earth cations, there have been no analogous studies using organic cations. This paper uses a homologous series of tetraalkylammonium ions to address this knowledge gap. The key result is that, in contrast to the inorganic cations, the ideal cation-permselective state could not be obtained under any experimental conditions for the organic cations. We propose that this is because these hydrophobic cations adsorb onto the polymeric pore walls. This makes ideality impossible because each adsorbed alkylammonium must bring a charge-balancing anion, Cl-, with it into the nanopore solution. The alkylammonium adsorption that occurred was confirmed and quantified by using surface contact angle measurements.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38814530

RESUMEN

PURPOSE: Targeting accuracy determines outcomes for percutaneous needle interventions. Augmented reality (AR) in IR may improve procedural guidance and facilitate access to complex locations. This study aimed to evaluate percutaneous needle placement accuracy using a goggle-based AR system compared to an ultrasound (US)-based fusion navigation system. METHODS: Six interventional radiologists performed 24 independent needle placements in an anthropomorphic phantom (CIRS 057A) in four needle guidance cohorts (n = 6 each): (1) US-based fusion, (2) goggle-based AR with stereoscopically projected anatomy (AR-overlay), (3) goggle AR without the projection (AR-plain), and (4) CT-guided freehand. US-based fusion included US/CT registration with electromagnetic (EM) needle, transducer, and patient tracking. For AR-overlay, US, EM-tracked needle, stereoscopic anatomical structures and targets were superimposed over the phantom. Needle placement accuracy (distance from needle tip to target center), placement time (from skin puncture to final position), and procedure time (time to completion) were measured. RESULTS: Mean needle placement accuracy using US-based fusion, AR-overlay, AR-plain, and freehand was 4.5 ± 1.7 mm, 7.0 ± 4.7 mm, 4.7 ± 1.7 mm, and 9.2 ± 5.8 mm, respectively. AR-plain demonstrated comparable accuracy to US-based fusion (p = 0.7) and AR-overlay (p = 0.06). Excluding two outliers, AR-overlay accuracy became 5.9 ± 2.6 mm. US-based fusion had the highest mean placement time (44.3 ± 27.7 s) compared to all navigation cohorts (p < 0.001). Longest procedure times were recorded with AR-overlay (34 ± 10.2 min) compared to AR-plain (22.7 ± 8.6 min, p = 0.09), US-based fusion (19.5 ± 5.6 min, p = 0.02), and freehand (14.8 ± 1.6 min, p = 0.002). CONCLUSION: Goggle-based AR showed no difference in needle placement accuracy compared to the commercially available US-based fusion navigation platform. Differences in accuracy and procedure times were apparent with different display modes (with/without stereoscopic projections). The AR-based projection of the US and needle trajectory over the body may be a helpful tool to enhance visuospatial orientation. Thus, this study refines the potential role of AR for needle placements, which may serve as a catalyst for informed implementation of AR techniques in IR.

4.
Nat Commun ; 15(1): 2639, 2024 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-38531844

RESUMEN

Asymmetry between the left and right hemisphere is a key feature of brain organization. Hemispheric functional specialization underlies some of the most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection of facial cues. Yet, genetic investigations into brain asymmetry have mostly relied on common variants, which typically exert small effects on brain-related phenotypes. Here, we leverage rare genomic deletions and duplications to study how genetic alterations reverberate in human brain and behavior. We designed a pattern-learning approach to dissect the impact of eight high-effect-size copy number variations (CNVs) on brain asymmetry in a multi-site cohort of 552 CNV carriers and 290 non-carriers. Isolated multivariate brain asymmetry patterns spotlighted regions typically thought to subserve lateralized functions, including language, hearing, as well as visual, face and word recognition. Planum temporale asymmetry emerged as especially susceptible to deletions and duplications of specific gene sets. Targeted analysis of common variants through genome-wide association study (GWAS) consolidated partly diverging genetic influences on the right versus left planum temporale structure. In conclusion, our gene-brain-behavior data fusion highlights the consequences of genetically controlled brain lateralization on uniquely human cognitive capacities.


Asunto(s)
Variaciones en el Número de Copia de ADN , Estudio de Asociación del Genoma Completo , Humanos , Lateralidad Funcional , Mapeo Encefálico , Encéfalo , Imagen por Resonancia Magnética
5.
Front Microbiol ; 15: 1357797, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38463486

RESUMEN

Plant microbiomes are known to serve several important functions for their host, and it is therefore important to understand their composition as well as the factors that may influence these microbial communities. The microbiome of Thalassia testudinum has only recently been explored, and studies to-date have primarily focused on characterizing the microbiome of plants in a single region. Here, we present the first characterization of the composition of the microbial communities of T. testudinum across a wide geographical range spanning three distinct regions with varying physicochemical conditions. We collected samples of leaves, roots, sediment, and water from six sites throughout the Atlantic Ocean, Caribbean Sea, and the Gulf of Mexico. We then analyzed these samples using 16S rRNA amplicon sequencing. We found that site and region can influence the microbial communities of T. testudinum, while maintaining a plant-associated core microbiome. A comprehensive comparison of available microbial community data from T. testudinum studies determined a core microbiome composed of 14 ASVs that consisted mostly of the family Rhodobacteraceae. The most abundant genera in the microbial communities included organisms with possible plant-beneficial functions, like plant-growth promoting taxa, disease suppressing taxa, and nitrogen fixers.

6.
J Med Imaging (Bellingham) ; 11(6): 062602, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38370135

RESUMEN

Purpose: The objective of this study is to review the accuracy of an augmented reality navigational guidance system designed to facilitate improved visualization, guidance, and accuracy during percutaneous needle-based procedures including biopsies and ablations. Approach: Using the HoloLens 2, the system registers and projects 3D CT-based models of segmented anatomy along with live ultrasound, fused with electromagnetically tracked instruments including ultrasound probes and needles, giving the operator comprehensive stereoscopic visualization for intraoperative planning and navigation during procedures.Tracked needles were guided to targets implanted in a cadaveric model using the system. Image fusion registration error, the multimodality error measured as the post-registration distance between a corresponding point measured in the stereoscopic CT and tracked ultrasound coordinate systems, and target registration error, the Euclidean distance between needle tip and target after needle placement, were measured as registration and targeting accuracy metrics. A t-distribution was used for statistical analysis. Results: Three operators performed 36 total needle passes, 18 to measure image fusion registration error and 18 to measure target registration error on four targets. The average depth of each needle pass was 8.4 cm from skin to target center. Mean IFRE was 4.4 mm (H0: µ=5 mm, P<0.05). Mean TRE was 2.3 mm (H0: µ=5 mm, P<0.00001). Conclusions: The study demonstrated high registration and targeting accuracy of this AR navigational guidance system in percutaneous, needle-based procedures. This suggests the ability to facilitate improved clinical performance in percutaneous procedures such as ablations and biopsies.

7.
Nat Ecol Evol ; 8(4): 663-675, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38366132

RESUMEN

Climate change is altering the functioning of foundational ecosystems. While the direct effects of warming are expected to influence individual species, the indirect effects of warming on species interactions remain poorly understood. In marine systems, as tropical herbivores undergo poleward range expansion, they may change food web structure and alter the functioning of key habitats. While this process ('tropicalization') has been documented within declining kelp forests, we have a limited understanding of how this process might unfold across other systems. Here we use a network of sites spanning 23° of latitude to explore the effects of increased herbivory (simulated via leaf clipping) on the structure of a foundational marine plant (turtlegrass). By working across its geographic range, we also show how gradients in light, temperature and nutrients modified plant responses. We found that turtlegrass near its northern boundary was increasingly affected (reduced productivity) by herbivory and that this response was driven by latitudinal gradients in light (low insolation at high latitudes). By contrast, low-latitude meadows tolerated herbivory due to high insolation which enhanced plant carbohydrates. We show that as herbivores undergo range expansion, turtlegrass meadows at their northern limit display reduced resilience and may be under threat of ecological collapse.


Asunto(s)
Ecosistema , Herbivoria , Cadena Alimentaria , Bosques , Cambio Climático , Plantas
8.
J Trauma Nurs ; 31(1): 34-39, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38193490

RESUMEN

BACKGROUND: Hospital-acquired, perioperative venous thromboembolism is a recognized patient safety indicator in the adult trauma patient population. Mechanical prophylaxis has been identified as a standard intervention to reduce the incidence of venous thromboembolism when prescribed along with anticoagulation or if anticoagulation is contraindicated in the surgical population. Adherence to consistent mechanical prophylaxis remains a nursing issue impacted by numerous factors in patient care. OBJECTIVE: The purpose of this quality improvement project was to improve the compliance of sequential compression device utilization to decrease the hospital-acquired, perioperative venous thromboembolism rate in the adult hospitalized trauma patient population. METHODS: A pre- and postintervention quality improvement approach utilized a nurse-led strategy to engage multidisciplinary team members to increase the consistency of sequential compression device utilization on patients within trauma units. The patient safety indicator rate per 1,000 for hospital-acquired, perioperative venous thromboembolism was monitored for improvement. RESULTS: The patient safety indicator rate per 1,000 for hospital-acquired, perioperative venous thromboembolism demonstrated a decline from 10.60 to 4.95 rate per 1,000 over 12 months. In the trauma units, sequential compression device compliance increased from an initial direct observation audit of only 12% to an average of 65% compliance rate during the last 16-week audits. CONCLUSION: We found that a multidisciplinary, nurse-driven approach in the trauma units was effective in improving the compliance of sequential compression device utilization and impacted the hospital acquired, perioperative venous thromboembolism rate in the adult trauma patient population.


Asunto(s)
Mejoramiento de la Calidad , Tromboembolia Venosa , Adulto , Humanos , Tromboembolia Venosa/prevención & control , Cooperación del Paciente , Seguridad del Paciente , Anticoagulantes/uso terapéutico
9.
Ann Surg Oncol ; 31(3): 2133-2143, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38071719

RESUMEN

BACKGROUND: Nephron-sparing approaches are preferred for renal mass in a solitary kidney (RMSK), with partial nephrectomy (PN) generally prioritized. Thermal ablation (TA) also is an option for small renal masses in this setting; however, comparative functional/survival outcomes are not well-defined. METHODS: A retrospective study of 504 patients (1975-2022) with cT1 RMSK managed with PN (n = 409)/TA (n = 95) with necessary data for analysis was performed. Propensity score was used for matching patients, including age, preoperative glomerular filtration rate (GFR), tumor diameter, R.E.N.A.L. ((R)adius (tumor size as maximal diameter), (E)xophytic/endophytic properties of tumor, (N)earness of tumor deepest portion to collecting system or sinus, (A)nterior (a)/posterior (p) descriptor, and (L)ocation relative to polar lines), and comorbidities. Functional outcomes were compared, and Kaplan-Meier was used to analyze survival. RESULTS: The matched cohort included 132 patients (TA = 66/PN = 66), with median tumor diameter of 2.4 cm, R.E.N.A.L. of 6, and preoperative GFR of 52 ml/min/1.73 m2. Acute kidney injury occurred in 11%/61% in the TA/PN cohorts, respectively (p < 0.01). After recovery, median GFR preserved was 89%/83% for TA/PN, respectively (p = 0.02), and 5-year dialysis-free survival was 96% in both cohorts. Median follow-up was 53 months. Five-year recurrence-free survival (RFS) was 62%/86% in the TA/PN cohorts, respectively (p < 0.01). Five-year local recurrence (LR)-free survival was 74%/95% in the TA/PN cohorts, respectively (p < 0.01). Five-year cancer-specific survival (CSS) was 96%/98% in the TA/PN cohorts, respectively (p = 0.7). Local recurrence was observed in nine of 36 (25%) and five of 30 (17%) patients managed with laparoscopic versus percutaneous TA, respectively. For TA with LR (n = 14), nine patients presented with multifocality and/or cT1b tumors. Twelve LR were managed with salvage TA, and seven remained cancer-free, while five developed systemic recurrence, three with concomitant LR. CONCLUSIONS: Functional outcomes for TA for RMSK were improved compared with PN. Local recurrence was more common after TA and often was associated with the laparoscopic approach, multifocality, and large tumor size. Improved patient selection and greater experience with TA should improve outcomes. Salvage of LR was not always possible. Partial nephrectomy remains the reference standard for RMSK.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Riñón Único , Humanos , Neoplasias Renales/cirugía , Carcinoma de Células Renales/cirugía , Riñón Único/cirugía , Estudios Retrospectivos , Nefrectomía , Resultado del Tratamiento
10.
Int J Clin Pharm ; 46(1): 56-69, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37991663

RESUMEN

BACKGROUND: Guidelines for pharmacy practitioners regarding various clinical pharmacy activities have been published in a number of countries. There is a need to review the guidelines and identify the scope of activities covered as a prelude to developing internationally acceptable common guidelines. AIM: To review the scope of clinical pharmacy guidelines and assess the extent to which these guidelines conform to quality standards as per the AGREE II instrument. METHOD: Medline, Embase, Guideline Central, International Pharmaceutical Abstracts, Google Scholar and Google (for grey literature) were searched for the period 2010 to January 2023. Guidelines which focused on any health care setting and any clinical pharmacy activity were included. Data were extracted and quality assessed independently by two reviewers using the English version of the AGREE II instrument. RESULTS: Thirty-eight guidelines were included, mostly originating from Australia (n = 10), Ireland (n = 8), UK (n = 7) and USA (n = 5). Areas covered included medication reconciliation, medicines optimisation, medication management and transition of care. As per the AGREE II assessment, the highest score was obtained for the scope and purpose domain and the lowest score for rigour of development, mainly due to non-consideration of literature/evidence to inform guideline development. CONCLUSION: Clinical pharmacy guidelines development processes need to focus on all quality domains and should take a systematic approach to guideline development. Guidelines need to further emphasise person-centred care and clinical communication. There is a scope to harmonise the guidelines internationally considering the diverse practices, standards and legislations across different geographies.


Asunto(s)
Comunicación , Farmacia , Humanos , Irlanda , Australia
11.
Sci Data ; 10(1): 892, 2023 Dec 18.
Artículo en Inglés | MEDLINE | ID: mdl-38110417

RESUMEN

A working group from the Global Library of Underwater Biological Sounds effort collaborated with the World Register of Marine Species (WoRMS) to create an inventory of species confirmed or expected to produce sound underwater. We used several existing inventories and additional literature searches to compile a dataset categorizing scientific knowledge of sonifery for 33,462 species and subspecies across marine mammals, other tetrapods, fishes, and invertebrates. We found 729 species documented as producing active and/or passive sounds under natural conditions, with another 21,911 species deemed likely to produce sounds based on evaluated taxonomic relationships. The dataset is available on both figshare and WoRMS where it can be regularly updated as new information becomes available. The data can also be integrated with other databases (e.g., SeaLifeBase, Global Biodiversity Information Facility) to advance future research on the distribution, evolution, ecology, management, and conservation of underwater soniferous species worldwide.


Asunto(s)
Biodiversidad , Ecología , Animales , Cetáceos , Peces , Sonido
12.
J Acoust Soc Am ; 154(5): 3252-3258, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37975736

RESUMEN

Despite the importance of acoustic signaling in fishes, the prevalence of the behavioral contexts associated with their active (i.e., intentional) sound production remains unclear. A systematized review was conducted to explore documented acoustic behaviors in marine, subtropical fishes and potential influences affecting their relative pervasiveness. Data were collected on 186 actively soniferous fish species studied across 194 publications, identified based on existing FishSounds and FishBase datasets. Disturbance was the most common behavioral context associated with active sound production-reported for 140 species or 75% of the species studied-and then aggression (n = 46 species, 25%) and reproduction (n = 34 species, 18%). This trend, however, somewhat differed when examined by research effort, study environment, and fish family, such as reproductive sounds being more commonly reported by studies conducted in the wild. The synthesis of fish sound production behaviors was in some ways stymied by the fact that many species' sound production did not have discernible associated behavioral contexts and that some investigations did not clearly identify the study environments in which active sound production was observed. These findings emphasize the importance of context-behavioral or otherwise-when studying acoustic behaviors in fishes.


Asunto(s)
Acústica , Sonido , Animales , Peces , Agresión
13.
Am J Psychiatry ; 180(9): 685-698, 2023 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-37434504

RESUMEN

OBJECTIVE: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) and schizophrenia. Little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, the authors investigated gross volume, vertex-level thickness, and surface maps of subcortical structures in 11 CNVs and six NPDs. METHODS: Subcortical structures were characterized using harmonized ENIGMA protocols in 675 CNV carriers (CNVs at 1q21.1, TAR, 13q12.12, 15q11.2, 16p11.2, 16p13.11, and 22q11.2; age range, 6-80 years; 340 males) and 782 control subjects (age range, 6-80 years; 387 males) as well as ENIGMA summary statistics for ASD, schizophrenia, attention deficit hyperactivity disorder, obsessive-compulsive disorder, bipolar disorder, and major depression. RESULTS: All CNVs showed alterations in at least one subcortical measure. Each structure was affected by at least two CNVs, and the hippocampus and amygdala were affected by five. Shape analyses detected subregional alterations that were averaged out in volume analyses. A common latent dimension was identified, characterized by opposing effects on the hippocampus/amygdala and putamen/pallidum, across CNVs and across NPDs. Effect sizes of CNVs on subcortical volume, thickness, and local surface area were correlated with their previously reported effect sizes on cognition and risk for ASD and schizophrenia. CONCLUSIONS: The findings demonstrate that subcortical alterations associated with CNVs show varying levels of similarities with those associated with neuropsychiatric conditions, as well distinct effects, with some CNVs clustering with adult-onset conditions and others with ASD. These findings provide insight into the long-standing questions of why CNVs at different genomic loci increase the risk for the same NPD and why a single CNV increases the risk for a diverse set of NPDs.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Esquizofrenia , Masculino , Adulto , Humanos , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Variaciones en el Número de Copia de ADN/genética , Esquizofrenia/genética , Encéfalo/diagnóstico por imagen , Trastorno por Déficit de Atención con Hiperactividad/genética , Genómica
14.
BMJ Case Rep ; 16(6)2023 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-37321643

RESUMEN

Acinetobacter radioresistens is a rare cause of nosocomial infection and is believed to confer antibiotic resistance to aggressive bacterial species. We present the first reported case of polymicrobial endocarditis caused by A. radioresistens and Microbacterium paraoxydans co-infection, a case of a woman in her late 60s with bacteraemia and ultimate finding of endometrial carcinoma. Bacteraemia with either agent in a previously healthy patient should prompt providers to search for underlying malignancy or immunological problem.We support the use of matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry for identifying these organisms in cultures, as well as the development of faster isolation techniques through PCR. Furthermore, we advocate for providers to order early antibiotic susceptibility testing, since our patient's Microbacterium sp was not susceptible to meropenem unlike most Microbacterium reported in literature.


Asunto(s)
Bacteriemia , Carcinoma , Femenino , Humanos , Catéteres de Permanencia , Bacteriemia/microbiología , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodos
15.
J Invertebr Pathol ; 198: 107930, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-37148998

RESUMEN

Subtropical Florida blue crabs, Callinectes sapidus, exhibit differing life history traits compared to their temperate counterparts, likely influencing symbiont infection dynamics. Little information exists for Florida C. sapidus symbiont profiles, their distribution among various habitats, and influence on crab condition. Using histopathology, genomics, and transmission electron microscopy, we describe the first symbiont profiles for Florida C. sapidus occupying freshwater to marine habitats. Twelve symbiont groups were identified from 409 crabs including ciliophorans, digenean, microsporidian, Haplosporidia, Hematodinium sp., Nematoda, filamentous bacteria, gregarine, Callinectes sapidus nudivirus, Octolasmis sp., Cambarincola sp., and putative microcell. Overall, 78% of C. sapidus were documented with one or more symbiont groups demonstrating high infection rates in wild populations. Environmental variables water temperature and salinity explained 48% of the variation in symbiont groups among Florida habitats, and salinity was positively correlated with C. sapidus symbiont diversity. This suggests freshwater C. sapidus possess fewer symbionts and represent healthier individuals compared to saltwater populations. Crab condition was examined using the reflex action mortality predictor (RAMP) to determine if reflex impairment could be linked to symbiont prevalence. Symbionts were found positively correlated with crab condition, and impaired crabs were more likely to host symbionts, demonstrating symbiont inclusion may boost predictive ability of the RAMP application. The microsporidian symbiont group had a particularly strong effect on C. sapidus reflex response, and impairment was on average 1.57 times higher compared to all other symbiont groups. Our findings demonstrate the importance of considering full symbiont profiles and their associations with a spatially and temporally variable environment to fully assess C. sapidus population health.


Asunto(s)
Braquiuros , Dinoflagelados , Animales , Florida , Temperatura , Salinidad , Dinoflagelados/fisiología
16.
bioRxiv ; 2023 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-37131672

RESUMEN

Asymmetry between the left and right brain is a key feature of brain organization. Hemispheric functional specialization underlies some of the most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection of facial cues. Yet, genetic investigations into brain asymmetry have mostly relied on common variant studies, which typically exert small effects on brain phenotypes. Here, we leverage rare genomic deletions and duplications to study how genetic alterations reverberate in human brain and behavior. We quantitatively dissected the impact of eight high-effect-size copy number variations (CNVs) on brain asymmetry in a multi-site cohort of 552 CNV carriers and 290 non-carriers. Isolated multivariate brain asymmetry patterns spotlighted regions typically thought to subserve lateralized functions, including language, hearing, as well as visual, face and word recognition. Planum temporale asymmetry emerged as especially susceptible to deletions and duplications of specific gene sets. Targeted analysis of common variants through genome-wide association study (GWAS) consolidated partly diverging genetic influences on the right versus left planum temporale structure. In conclusion, our gene-brain-behavior mapping highlights the consequences of genetically controlled brain lateralization on human-defining cognitive traits.

17.
Nat Hum Behav ; 7(6): 1001-1017, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36864136

RESUMEN

Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.


Asunto(s)
Encéfalo , Variaciones en el Número de Copia de ADN , Humanos , Variaciones en el Número de Copia de ADN/genética , Encéfalo/diagnóstico por imagen
18.
medRxiv ; 2023 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-36865328

RESUMEN

Objectives: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism (ASD) and schizophrenia (SZ). Overall, little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, we investigated gross volume, and vertex level thickness and surface maps of subcortical structures in 11 different CNVs and 6 different NPDs. Methods: Subcortical structures were characterized using harmonized ENIGMA protocols in 675 CNV carriers (at the following loci: 1q21.1, TAR, 13q12.12, 15q11.2, 16p11.2, 16p13.11, and 22q11.2) and 782 controls (Male/Female: 727/730; age-range: 6-80 years) as well as ENIGMA summary-statistics for ASD, SZ, ADHD, Obsessive-Compulsive-Disorder, Bipolar-Disorder, and Major-Depression. Results: Nine of the 11 CNVs affected volume of at least one subcortical structure. The hippocampus and amygdala were affected by five CNVs. Effect sizes of CNVs on subcortical volume, thickness and local surface area were correlated with their previously reported effect sizes on cognition and risk for ASD and SZ. Shape analyses were able to identify subregional alterations that were averaged out in volume analyses. We identified a common latent dimension - characterized by opposing effects on basal ganglia and limbic structures - across CNVs and across NPDs. Conclusion: Our findings demonstrate that subcortical alterations associated with CNVs show varying levels of similarities with those associated with neuropsychiatric conditions. We also observed distinct effects with some CNVs clustering with adult conditions while others clustered with ASD. This large cross-CNV and NPDs analysis provide insight into the long-standing questions of why CNVs at different genomic loci increase the risk for the same NPD, as well as why a single CNV increases the risk for a diverse set of NPDs.

19.
PLoS One ; 18(3): e0283439, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36972282

RESUMEN

The alteration of environmental conditions has two major outcomes on the demographics of living organisms: population decline of the common species and extinction of the rarest ones. Halting the decline of abundant species as well as the erosion of biodiversity require solutions that may be mismatched, despite being rooted in similar causes. In this study, we demonstrate how rank abundance distribution (RAD) models are mathematical representations of a dominance-diversity dilemma. Across 4,375 animal communities from a range of taxonomic groups, we found that a reversed RAD model correctly predicts species richness, based solely on the relative dominance of the most abundant species in a community and the total number of individuals. Overall, predictions from this RAD model explained 69% of the variance in species richness, compared to 20% explained by simply regressing species richness on the relative dominance of the most abundant species. Using the reversed RAD model, we illustrate how species richness is co-limited by the total abundance of a community and the relative dominance of the most common species. Our results highlight an intrinsic trade-off between species richness and dominance that is present in the structure of RAD models and real-world animal community data. This dominance-diversity dilemma suggests that withdrawing individuals from abundant populations might contribute to the conservation of species richness. However, we posit that the positive effect of harvesting on biodiversity is often offset by exploitation practices with negative collateral consequences, such as habitat destruction or species bycatches.


Asunto(s)
Biodiversidad , Ecosistema , Animales , Biología
20.
Blood Purif ; 52(2): 157-165, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36473449

RESUMEN

INTRODUCTION: Organophosphate poisoning occurs frequently, and despite treatment, increased severity and intensive care unit (ICU) admissions have been observed. We hypothesized that early hemoperfusion/hemadsorption (HA) therapy would change the clinical course of the disease. METHODS: We performed a prospective, open, randomized controlled study at an academic ICU. Adult patients referred for an acute cholinergic toxidrome were screened. Patients meeting inclusion and exclusion criteria were randomized to standard of care (SoC) or HA therapy plus SoC, which included 2 6-h cycles of HA 12 h apart beginning within the first 24 h of ICU admission. The primary outcome was a comparison of ICU length of stay (LOS). RESULTS: There were no significant baseline differences between the groups. The median ICU LOS was 6.5 days (IQR 4.5-10) in the HA group compared to 8 days (IQR 3.5-17) for the control group, p = 0.58. Among patients with an excess ICU LOS ≥7 days, the median ICU LOS was significantly shorter for the HA group, 10 days (IQR 8-12) compared to 17 days (IQR 14-22) for the control group, p = 0.001, resulting in a cost saving of EUR 7308 per patient. Duration (8 days vs. 13.5 days) and cumulative dosage (316 mg vs. 887 mg) of atropine among patients with excess ICU LOS were significantly lower in the HA group compared to the SoC group, respectively. A similar reduction in the duration of mechanical ventilation (HA = 6 days vs. SoC = 15 days, p = 0.001) was found. The combination of day 28 mortality and severe complications was lower in the HA group (10%, n = 2/20) compared to the SoC group (42%, 14/33) p = 0.01. CONCLUSION: HA therapy resulted in significant cost savings driven by a reduced LOS among patients with excess ICU LOS ≥7 days. This therapy was also associated with a significant reduction in the combination of day 28 mortality and severe complications including cardiac arrest, organ dysfunction, reintubation, and tracheostomy.


Asunto(s)
Hemoperfusión , Adulto , Humanos , Estudios Prospectivos , Enfermedad Crítica/terapia , Organofosfatos , Unidades de Cuidados Intensivos , Carbamatos
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