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2.
Anim Reprod Sci ; 262: 107433, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38368654

RESUMO

Retrospective analyses were performed on a dataset of 1188 fall-calving, Brangus cow-calf pairs. Analyses 1 sorted cows according to their initial body condition score (BCS < 5 vs. ≥ 5) and whether they received (SUP) or not (NOSUP) prepartum supplementation of protein and energy. Analyses 2 sorted cows according to their calving BCS (BCS < 5 or ≥ 5) and BCS change from calving until the start of the breeding season (lost, maintained, or gained). Cows were not estrus synchronized and were assigned to natural breeding for 90 days. Prepartum supplementation increased (P = 0.04) pregnancy percentage in cows with initial BCS < 5 but not (P = 0.20) with initial BCS ≥ 5. Calf weaning weight was greatest (P ≤ 0.04) for calves born from SUP cows with an initial BCS ≥ 5 and did not differ (P ≥ 0.56) among all remaining groups. Among cows with calving BCS < 5, pregnancy percentage were less (P = 0.05) for cows that lost vs. maintained/gained BCS. Postpartum BCS change did not (P ≥ 0.16) impact pregnancy percentage of cows calving at BCS ≥ 5. Calf weaning weight increased (P < 0.01) for cows calving with BCS ≥ 5 vs. < 5 and was not impacted (P = 0.47) by postpartum BCS change. Therefore, precalving supplementation improved reproduction of cows with BCS below optimal and weaning weight of calves born from cows with BCS above optimal, whereas calving BCS was the major factor affecting postpartum BCS change and cow reproductive performance.


Assuntos
Dieta , Reprodução , Gravidez , Feminino , Bovinos , Animais , Dieta/veterinária , Estudos Retrospectivos , Parto , Ração Animal/análise , Suplementos Nutricionais , Peso Corporal
4.
Spat Spatiotemporal Epidemiol ; 42: 100521, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35934330

RESUMO

Severe acute respiratory syndrome - coronavirus 2 (SARS-CoV-2) continues to effect communities across the world. One way to combat these effects is to enhance our collective ability to remotely monitor community spread. Monitoring SARS-CoV-2 in wastewater is one approach that enables researchers to estimate the total number of infected people in a region; however, estimates are often made at the sewershed level which may mask the geographic nuance required for targeted interdiction efforts. In this work, we utilize an apportioning method to compare the spatial and temporal trends of daily case count with the temporal pattern of viral load in the wastewater at smaller units of analysis within Austin, TX. We find different lag-times between wastewater loading and case reports. Daily case reports for some locations follow the temporal trend of viral load more closely than others. These findings are then compared to socio-demographic characteristics across the study area.


Assuntos
COVID-19 , SARS-CoV-2 , COVID-19/epidemiologia , Humanos , Análise Espaço-Temporal , Águas Residuárias
5.
Mar Pollut Bull ; 173(Pt A): 112896, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34601248

RESUMO

Profiles of 33 PFAS analytes and 12 essential and non-essential trace elements were measured in livers of stranded common dolphins (Delphinus delphis) from New Zealand. PFAS concentrations reported were largely comparable to those measured in other marine mammal species globally and composed mostly of long-chain compounds including perfluorooctanesulfonic acid (PFOS), perfluorododecanoic acid (PFDoDA), perfluorotridecanoic acid (PFTrDA) and perfluorooctanesulfonamide (FOSA). PFAS profiles did not vary significantly by location, body condition, or life history. Notably, significant positive correlations were observed within respective PFAS and trace elements. However, only negative correlations were evident between these two contaminant types, suggesting different exposure and metabolic pathways. Age-associated concentrations were found for PFTrDA and four trace elements, i.e. silver, mercury, cadmium, selenium, indicating differences in the bioaccumulation biomagnification mechanisms. Overall, our results contribute to global understanding of accumulation of PFAS by offering first insights of PFAS exposure in cetaceans living within South Pacific Australasian waters.


Assuntos
Ácidos Alcanossulfônicos , Golfinhos Comuns , Fluorocarbonos , Oligoelementos , Animais , Monitoramento Ambiental , Fluorocarbonos/análise , Nova Zelândia , Oligoelementos/análise
6.
Trop Anim Health Prod ; 53(3): 341, 2021 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-34089388

RESUMO

Three experiments were conducted to evaluate the frequency of visits to a mineral feeder equipped with radio-frequency identification (RFID). In Exp. 1, twelve heifers (Braford, Brahman, and White Angus; n = 4/breed) were fitted with RFID ear tags and placed into a pasture with access to a RFID-equipped mineral feeder. Number of visits were greater (P ≤ 0.05) during daytime than the night period. Brahman and Braford heifers favored (P ≤ 0.05) daytime than night period. White Angus heifers did not display a specific period preference (P = 0.32). In Exp. 2, Black Angus and Brahman cows (n = 15 and 19, respectively) were placed into a pasture with access to a RFID-equipped mineral feeder. Brahman cows made more (P < 0.01) visits to the mineral feeder than Black Angus cows. There were no breed differences on the number of visits during the morning (P = 0.25) and night (P ≤ 0.25) periods, but Brahman cows made more (P ≤ 0.05) visits to the mineral feeder in the afternoon period than Black Angus cows. In Exp. 3, the location of the mineral feeder was tested using 3 groups of Bos indicus-influenced heifers (n = 12/group). The mineral feeder was moved weekly within pasture. The number of visits to the mineral feeder differed for each location (P < 0.001) with visits being greatest when mineral feeder was placed near supplement and water, followed by center of the pasture, and lastly in the shade.


Assuntos
Dispositivo de Identificação por Radiofrequência , Animais , Bovinos , Suplementos Nutricionais , Feminino , Minerais , Tecnologia
7.
Sci Adv ; 6(41)2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33033036

RESUMO

The gravity field of a small body provides insight into its internal mass distribution. We used two approaches to measure the gravity field of the rubble-pile asteroid (101955) Bennu: (i) tracking and modeling the spacecraft in orbit about the asteroid and (ii) tracking and modeling pebble-sized particles naturally ejected from Bennu's surface into sustained orbits. These approaches yield statistically consistent results up to degree and order 3, with the particle-based field being statistically significant up to degree and order 9. Comparisons with a constant-density shape model show that Bennu has a heterogeneous mass distribution. These deviations can be modeled with lower densities at Bennu's equatorial bulge and center. The lower-density equator is consistent with recent migration and redistribution of material. The lower-density center is consistent with a past period of rapid rotation, either from a previous Yarkovsky-O'Keefe-Radzievskii-Paddack cycle or arising during Bennu's accretion following the disruption of its parent body.

8.
Sci Adv ; 6(41)2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33033038

RESUMO

We investigate the shape of near-Earth asteroid (101955) Bennu by constructing a high-resolution (20 cm) global digital terrain model from laser altimeter data. By modeling the northern and southern hemispheres separately, we find that longitudinal ridges previously identified in the north extend into the south but are obscured there by surface material. In the south, more numerous large boulders effectively retain surface materials and imply a higher average strength at depth to support them. The north has fewer large boulders and more evidence of boulder dynamics (toppling and downslope movement) and surface flow. These factors result in Bennu's southern hemisphere being rounder and smoother, whereas its northern hemisphere has higher slopes and a less regular shape. We infer an originally asymmetric distribution of large boulders followed by a partial disruption, leading to wedge formation in Bennu's history.

9.
Anaesthesia ; 74(12): 1524-1533, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31538329

RESUMO

The recent development of electronic logbooks with secure off-device data storage provides a rich resource for research. We present the largest analysis of anaesthetic logbooks to date, with data from 494,235 cases logged by 964 anaesthetists over a 4-year period. Our analysis describes and compares the annual case-load and supervision levels of different grades of anaesthetists across the UK and Republic of Ireland. We calculated the number of cases undertaken per year by grade (median (IQR [range]) core trainees = 388 (252-512 [52-1204]); specialist trainees = 344 (228-480 [52-1144]); and consultants = 328 (204-500 [52-1316]). Overall, the proportion of cases undertaken with direct consultant supervision was 56.7% and 41.6% for core trainees and specialist trainees, respectively. The proportion of supervised cases reduced out-of-hours, for both core trainees (day 93.5%, evening 86.3%, night 78.6%) and specialist trainees (day 81.0%, evening 67.7%, night 56.4%).


Assuntos
Anestesiologistas/estatística & dados numéricos , Carga de Trabalho/estatística & dados numéricos , Anestesiologia , Competência Clínica , Bases de Dados Factuais , Humanos , Irlanda , Estudos Retrospectivos , Reino Unido
10.
Microbiol Resour Announc ; 8(20)2019 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-31097509

RESUMO

Beatrix, Carthage, Daegal, Dulcie, Fancypants, Fenn, Inca, Naira, and Robyn are newly isolated bacteriophages capable of infecting Mycolicibacterium smegmatis mc2 155. We discovered, sequenced, and annotated these New Zealand bacteriophages. These phages illustrate that New Zealand harbors a selection of the highly diverse and distributed mycobacteriophage clusters found globally.

11.
Nat Geosci ; 12(4): 247-252, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31080497

RESUMO

The shapes of asteroids reflect interplay between their interior properties and the processes responsible for their formation and evolution as they journey through the Solar System. Prior to the OSIRIS-REx (Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer) mission, Earth-based radar imaging gave an overview of (101955) Bennu's shape. Here, we construct a high-resolution shape model from OSIRIS-REx images. We find that Bennu's top-like shape, considerable macroporosity, and prominent surface boulders suggest that it is a rubble pile. High-standing, north-south ridges that extend from pole to pole, many long grooves, and surface mass wasting indicate some low levels of internal friction and/or cohesion. Our shape model indicates that, similar to other top-shaped asteroids, Bennu formed by reaccumulation and underwent past periods of fast spin leading to its current shape. Today, Bennu might follow a different evolutionary pathway, with interior stiffness permitting surface cracking and mass wasting.

12.
Science ; 364(6437): 268-272, 2019 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-30890588

RESUMO

The Hayabusa2 spacecraft arrived at the near-Earth carbonaceous asteroid 162173 Ryugu in 2018. We present Hayabusa2 observations of Ryugu's shape, mass, and geomorphology. Ryugu has an oblate "spinning top" shape, with a prominent circular equatorial ridge. Its bulk density, 1.19 ± 0.02 grams per cubic centimeter, indicates a high-porosity (>50%) interior. Large surface boulders suggest a rubble-pile structure. Surface slope analysis shows Ryugu's shape may have been produced from having once spun at twice the current rate. Coupled with the observed global material homogeneity, this suggests that Ryugu was reshaped by centrifugally induced deformation during a period of rapid rotation. From these remote-sensing investigations, we identified a suitable sample collection site on the equatorial ridge.

13.
BMC Vet Res ; 15(1): 27, 2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30646904

RESUMO

BACKGROUND: Producing graduates for a breadth of sectors is a priority for veterinary science programs. Undergraduate career intentions represent de-facto 'outcome' measures of admissions policy and curricula design, as intentions are strong predictors of eventual behaviour. Informed by Ajzen's Theory of Planned Behaviour, this study aimed to identify if contextually relevant attitudes and self-ratings affect student intentions for veterinary career sectors. RESULTS: Survey responses from 844 students enrolled in five Australian veterinary programs in 2014 were analysed. Intention was measured for biomedical research/academia, industry, laboratory animal medicine, public health/government/diagnostic laboratory services, mixed practice, intensive animal production, companion animal practice, not work in the veterinary profession, and business/entrepreneurship. Hierarchical multiple linear regression analysis enabled comparison of explanation of variance in intent by demographics, animal handling experience, species preference, and attitudes to aspects of veterinary work. Career sector intentions were highest for mixed or companion animal clinical practice, then business/entrepreneurship, then non-clinical sectors. Overall, intent was explained to a greater extent by species preferences than by animal experience, attitudes to aspects of veterinary work and demographics (with the exception of mixed practice intent) with gender having no significant effect. Several variables exerted negative effects on career intent for less popular career sectors. CONCLUSION: Ajzen's Theory of Planned Behaviour (TPB) provides a framework to increase understanding of and predict career sector intentions. Incorporation of attitude and self-efficacy measures in our study revealed preference for species types contributes greatly to career sector intentions for veterinary students, particularly for the more popular practice based sectors. Importantly, specific species preferences and other attitudes can have a negative effect on intent for non-aligned veterinary sectors. Further research is required to identify additional attitudes and/or beliefs to better explain variance in intent for less popular career sectors. Veterinary admissions processes may benefit from utilising the TPB framework. Identified effects revealed by this study may stimulate innovation in marketing, recruitment, admissions and curricular design, such as timing and role modelling, to utilise positive effects and mitigate against negative effects identified for sectors requiring greater representation of career intent in the student body.


Assuntos
Escolha da Profissão , Medicina Veterinária , Atitude , Austrália , Estudos Transversais , Demografia , Feminino , Humanos , Masculino , Medicina Veterinária/tendências , Recursos Humanos
14.
Nat Astron ; 3(4): 352-361, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32601603

RESUMO

The top-shape morphology of asteroid (101955) Bennu is commonly found among fast-spinning asteroids and binary asteroid primaries, and might have contributed significantly to binary asteroid formation. Yet a detailed geophysical analysis of this morphology for a fast-spinning asteroid has not been possible prior to the Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer (OSIRIS-REx) mission. Combining the measured Bennu mass and shape obtained during the Preliminary Survey phase of OSIRIS-REx, we find a significant transition in Bennu's surface slopes within its rotational Roche lobe, defined as the region where material is energetically trapped to the surface. As the intersection of the rotational Roche lobe with Bennu's surface has been most recently migrating towards its equator (given Bennu's increasing spin rate), we infer that Bennu's surface slopes have been changing across its surface within the last million years. We also find evidence for substantial density heterogeneity within this body, suggesting that its interior has a distribution of voids and boulders. The presence of such heterogeneity and Bennu's top-shape is consistent with spin-induced failure at some point in its past, although the manner of its failure cannot be determined yet. Future measurements by the OSIRIS-REx spacecraft will give additional insights and may resolve questions regarding the formation and evolution of Bennu's top-shape morphology and its link to the formation of binary asteroids.

15.
Nat Commun ; 9(1): 2618, 2018 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-29976994

RESUMO

The T-cell antigen receptor (TCR) is pre-organised in oligomers, known as nanoclusters. Nanoclusters could provide a framework for inter-TCR cooperativity upon peptide antigen-major histocompatibility complex (pMHC) binding. Here we have used soluble pMHC oligomers in search for cooperativity effects along the plasma membrane plane. We find that initial binding events favour subsequent pMHC binding to additional TCRs, during a narrow temporal window. This behaviour can be explained by a 3-state model of TCR transition from Resting to Active, to a final Inhibited state. By disrupting nanoclusters and hampering the Active conformation, we show that TCR cooperativity is consistent with TCR nanoclusters adopting the Active state in a coordinated manner. Preferential binding of pMHC to the Active TCR at the immunological synapse suggests that there is a transient time frame for signal amplification in the TCR, allowing the T cells to keep track of antigen quantity and binding time.


Assuntos
Antígenos de Histocompatibilidade/imunologia , Peptídeos/imunologia , Receptores de Antígenos de Linfócitos T/imunologia , Linfócitos T/imunologia , Animais , Sítios de Ligação , Antígenos de Histocompatibilidade/química , Antígenos de Histocompatibilidade/metabolismo , Humanos , Sinapses Imunológicas/imunologia , Sinapses Imunológicas/metabolismo , Camundongos Transgênicos , Modelos Moleculares , Peptídeos/química , Peptídeos/metabolismo , Ligação Proteica , Conformação Proteica , Multimerização Proteica , Receptores de Antígenos de Linfócitos T/química , Receptores de Antígenos de Linfócitos T/metabolismo , Transdução de Sinais/imunologia , Linfócitos T/metabolismo
16.
Anaesthesia ; 73(7): 825-831, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29633251

RESUMO

We conducted a 5-year retrospective cohort study on women undergoing caesarean section to investigate factors influencing the operating room-to-incision interval. Time-to-event analysis was performed for category-1 caesarean section using a Cox proportional hazards regression model. Covariates included: anaesthetic technique; body mass index; age; parity; time of delivery; and gestational age. Binary logistic regression was performed for 5-min Apgar score ≥ 7. There were 677 women who underwent category-1 caesarean section and who met the entry criteria. Unadjusted median (IQR [range]) operating room-to-incision intervals were: epidural top-up 11 (7-17 [0-87]) min; general anaesthesia 6 (4-11 [0-69]) min; spinal 13 (10-20 [0-83]) min; and combined spinal-epidural 24 (13-35 [0-75]) min. Cox regression showed general anaesthesia to be the most rapid method with a hazard ratio (95%CI) of 1.97 (1.60-2.44; p < 0.0001), followed by epidural top-up (reference group), spinal anaesthesia 0.79 (0.65-0.96; p = 0.02) and combined spinal-epidural 0.48 (0.35-0.67; p < 0.0001). Underweight and overweight body mass indexes were associated with longer operating room-to-incision intervals. General anaesthesia was associated with fewer 5-min Apgar scores ≥ 7 with an odds ratio (95%CI) of 0.28 (0.11-0.68; p < 0.01). There was no difference in neonatal outcomes between the first and fifth quintiles for operating room-to-incision intervals. General anaesthesia is associated with the most rapid operating room-to-incision interval for category-1 caesarean section, but is also associated with worse short term neonatal outcomes. Longer operating room-to-incision intervals were not associated with worse neonatal outcomes.


Assuntos
Anestesia Obstétrica/estatística & dados numéricos , Cesárea/estatística & dados numéricos , Serviços Médicos de Emergência/estatística & dados numéricos , Adulto , Fatores Etários , Anestesia Epidural , Anestesia Geral , Raquianestesia , Índice de Apgar , Índice de Massa Corporal , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Estimativa de Kaplan-Meier , Salas Cirúrgicas/estatística & dados numéricos , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
17.
Mol Psychiatry ; 23(2): 222-230, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-27550844

RESUMO

Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.


Assuntos
Canais de Cloreto/genética , Síndromes Epilépticas/genética , Deficiência Intelectual/genética , Adolescente , Adulto , Idoso , Animais , Criança , Pré-Escolar , Canais de Cloreto/metabolismo , Epilepsia/genética , Síndromes Epilépticas/fisiopatologia , Família , Feminino , Genes Ligados ao Cromossomo X , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação em Linhagem Germinativa , Humanos , Deficiência Intelectual/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação , Oócitos , Linhagem , Fenótipo , Síndrome , Substância Branca/fisiopatologia , Xenopus laevis
18.
Rapid Commun Mass Spectrom ; 31(22): 1947-1956, 2017 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-28857369

RESUMO

RATIONALE: The rapid screening of volatile organic compounds (VOCs) by direct analysis has potential applications in the areas of food and flavour science. Currently, the technique of choice for VOC analysis is gas chromatography/mass spectrometry (GC/MS). However, the long chromatographic run times and elaborate sample preparation associated with this technique have led a movement towards direct analysis techniques, such as selected ion flow tube mass spectrometry (SIFT-MS), proton transfer reaction mass spectrometry (PTR-MS) and electronic noses. The work presented here describes the design and construction of a Venturi jet-pump-based modification for a compact mass spectrometer which enables the direct introduction of volatiles for qualitative and quantitative analysis. METHODS: Volatile organic compounds were extracted from the headspace of heated vials into the atmospheric pressure chemical ionization source of a quadrupole mass spectrometer using a Venturi pump. Samples were analysed directly with no prior sample preparation. Principal component analysis (PCA) was used to differentiate between different classes of samples. RESULTS: The interface is shown to be able to routinely detect problem analytes such as fatty acids and biogenic amines without the requirement of a derivatisation step, and is shown to be able to discriminate between four different varieties of cheese with good intra and inter-day reproducibility using an unsupervised PCA model. Quantitative analysis is demonstrated using indole standards with limits of detection and quantification of 0.395 µg/mL and 1.316 µg/mL, respectively. CONCLUSIONS: The described methodology can routinely detect highly reactive analytes such as volatile fatty acids and diamines without the need for a derivatisation step or lengthy chromatographic separations. The capability of the system was demonstrated by discriminating between different varieties of cheese and monitoring the spoilage of meats.


Assuntos
Análise de Alimentos/métodos , Espectrometria de Massas/métodos , Compostos Orgânicos Voláteis/análise , Compostos Orgânicos Voláteis/isolamento & purificação , Animais , Pressão Atmosférica , Aminas Biogênicas/análise , Queijo/análise , Análise por Conglomerados , Desenho de Equipamento , Ácidos Graxos/análise , Espectrometria de Massas/instrumentação , Carne/análise , Análise Multivariada , Suínos , Compostos Orgânicos Voláteis/química
19.
J R Army Med Corps ; 163(2): 140-145, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27451422

RESUMO

INTRODUCTION: The aim of this paper was to examine levels of post-traumatic growth (PTG) in a sample of the UK veterans who had received treatment for post-traumatic stress disorder (PTSD). METHODS: The study followed-up 149 UK veterans after they had completed standardised treatment for PTSD provided by Combat Stress. Data had previously been collected on a range of mental health outcomes before treatment, and then repeated 6 months after the end of treatment. For the current study, participants completed the post-traumatic growth inventory (PTGI) measure. Analysis was conducted to explore levels of PTG and whether there were any relationships between pretreatment and post-treatment ratings of mental health and PTG. RESULTS: The mean score on the PTGI was 32.6. Evidence of a treatment effect on levels of PTG was observed. There appeared to be a relationship between improvements in symptoms of PTSD and depression and higher levels of PTG. CONCLUSIONS: This study observed the presence of PTG following exposure to traumatic events within a sample of the UK veterans following their treatment for PTSD. PTG scores were moderately low in comparison to similar studies in the USA.


Assuntos
Adaptação Psicológica , Transtornos de Estresse Pós-Traumáticos/psicologia , Veteranos/psicologia , Adulto , Ira , Ansiedade/psicologia , Depressão/psicologia , Feminino , Seguimentos , Humanos , Masculino , Saúde Mental , Pessoa de Meia-Idade , Tratamento Domiciliar , Transtornos de Estresse Pós-Traumáticos/terapia , Reino Unido
20.
Clin Genet ; 89(1): 120-7, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25807999

RESUMO

We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males had mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted and placid during clinical interview. The family disclosed episodic explosive aggression after a diagnosis was made. The second family had a missense variant in MAOA (p.R45W). Affected males had borderline-mild ID, attention deficit disorder and limited friendships. One had a history of explosive aggression in childhood and episodic symptoms of flushing, headaches and diarrhoea. Their carrier mother had normal intelligence but similar episodic symptoms. Characteristic biochemical abnormalities included high serum serotonin and urinary metanephrines and low urinary 5-hydroxyindoleacetic acid (5-HIAA) and vanillylmandelic acid (VMA). Symptomatic individuals in the second family had particularly high serotonin levels, and treatment with a serotonin reuptake inhibitor and dietary modification resulted in reversal of biochemical abnormalities, reduction of 'serotonergic' symptoms and behavioural improvement. Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms. It can be screened for with serum/urine metanephrine and serotonin measurement. Cautious treatment with a serotonin reuptake inhibitor, dietary modifications and avoidance of medications contraindicated in patients on monoamine oxidase inhibitors can improve symptoms.


Assuntos
Transtornos Disruptivos, de Controle do Impulso e da Conduta/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiência Intelectual/genética , Monoaminoxidase/deficiência , Agressão , Sequência de Aminoácidos , Transtornos Disruptivos, de Controle do Impulso e da Conduta/tratamento farmacológico , Exoma , Genes Ligados ao Cromossomo X , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Loci Gênicos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência Intelectual/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Dados de Sequência Molecular , Terapia de Alvo Molecular , Monoaminoxidase/química , Monoaminoxidase/genética , Linhagem , Fenótipo , Conformação Proteica , Alinhamento de Sequência
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