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1.
Nature ; 593(7860): 548-552, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33882562

RESUMO

Global peatlands store more carbon than is naturally present in the atmosphere1,2. However, many peatlands are under pressure from drainage-based agriculture, plantation development and fire, with the equivalent of around 3 per cent of all anthropogenic greenhouse gases emitted from drained peatland3-5. Efforts to curb such emissions are intensifying through the conservation of undrained peatlands and re-wetting of drained systems6. Here we report eddy covariance data for carbon dioxide from 16 locations and static chamber measurements for methane from 41 locations in the UK and Ireland. We combine these with published data from sites across all major peatland biomes. We find that the mean annual effective water table depth (WTDe; that is, the average depth of the aerated peat layer) overrides all other ecosystem- and management-related controls on greenhouse gas fluxes. We estimate that every 10 centimetres of reduction in WTDe could reduce the net warming impact of CO2 and CH4 emissions (100-year global warming potentials) by the equivalent of at least 3 tonnes of CO2 per hectare per year, until WTDe is less than 30 centimetres. Raising water levels further would continue to have a net cooling effect until WTDe is within 10 centimetres of the surface. Our results suggest that greenhouse gas emissions from peatlands drained for agriculture could be greatly reduced without necessarily halting their productive use. Halving WTDe in all drained agricultural peatlands, for example, could reduce emissions by the equivalent of over 1 per cent of global anthropogenic emissions.

2.
Curr Psychiatry Rep ; 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39352646

RESUMO

PURPOSE OF REVIEW: Challenging cognitive, somatic, and behavioral responses to climate change are often conceptualized as climate anxiety (CA). Due to the increased recognition of the impacts of climate change on mental health, a growing body of scientific literature is developing. The purpose of this manuscript is to review the current evidence base for CA and propose future research needs for this emerging construct. RECENT FINDINGS: Early evidence supports underlying psychological mechanisms in the development and maintenance of CA, which are similar to other anxiety-related conditions. However, the study of CA poses unique challenges to researchers. The psychological impacts that occur in the context of climate change may be adaptive depending on the imminent threat of natural disasters, forced migration, or other climate-related challenges. Due to the potentially adaptive nature of CA and limited current evidence, a coordinated research program of climate-related distress is necessary. A review of the extant literature identified current gaps in understanding the epidemiology and individual differences that promote CA. Current evidence supports the prominent role of neuroticism, intolerance of uncertainty, and rumination. The development of evidence-based models of climate-related distress may provide a more valid and comprehensive depiction of the impacts of climate change on mental health. Transdiagnostic treatment methods are likely the most appropriate intervention for climate-related distress. As models, measures, and treatments of climate-related distress are developed, it is crucial to incorporate studies of populations most at risk for climate change-related mental health effects.

3.
Am J Emerg Med ; 84: 81-86, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39096713

RESUMO

OBJECTIVE: To evaluate the characteristics and trends of pediatric water bead-related visits to US emergency departments (EDs) using a large national database. METHODS: Data from the National Electronic Injury Surveillance System regarding ED visits by individuals <20 years old associated with water beads from January 1, 2007, through December 31, 2022, were retrospectively analyzed. RESULTS: Based on 307 reported cases, there were an estimated 8159 visits (95% CI: 4447-11,870) to US EDs from 2007 through 2022 involving water beads among <20-year-olds, and more than half (55.0%) of the 307 ED cases involved <5-year-olds. Most cases were treated and released (92.2%), which was consistent across all age groups. The proportion of cases admitted was highest among children <5 years old (10.1%), and this age group accounted for 17 of the 19 admissions (89.5%) in this study. All admissions among children <5 years old involved ingestions. Ingestion was the most common mechanism of injury (45.9%), followed by ear canal insertion (32.6%), nasal insertion (11.7%), and eye injury (8.8%). Although ingestions occurred most frequently among children one (28.4%) and two (23.4%) years of age, children 3 and 4 years old accounted for one-fifth of ingestions. The number of ED cases increased rapidly by 130.9% from 55 cases in 2021 to 127 in 2022. CONCLUSIONS: The number of pediatric water bead-related ED visits is increasing rapidly. Children <5 years old are most commonly involved, usually via water bead ingestion. Increased prevention efforts are needed.


Assuntos
Serviço Hospitalar de Emergência , Humanos , Serviço Hospitalar de Emergência/estatística & dados numéricos , Pré-Escolar , Estados Unidos/epidemiologia , Criança , Lactente , Masculino , Feminino , Estudos Retrospectivos , Adolescente , Adulto Jovem , Corpos Estranhos/epidemiologia , Recém-Nascido
4.
J Org Chem ; 88(21): 15516-15522, 2023 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-37852231

RESUMO

Several phosphaquinolinone derivatives have been synthesized and characterized to explore their usefulness in the realm of cell imaging. Solution-state photophysical properties in both aqueous and organic solutions were collected for these derivatives. Additionally, CCK-8 cell viability assays and fluorescent imaging in HeLa cells incubated with the new heterocyclic derivatives show evidence of favorable cell permeability, cell viability, and moderate intracellular localization when appended with the well-known morpholine targeting motif.


Assuntos
Corantes Fluorescentes , Água , Humanos , Estrutura Molecular , Células HeLa , Ionóforos , Concentração de Íons de Hidrogênio
5.
Sex Health ; 17(4): 392-394, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32829744

RESUMO

Willingness to self-collect vaginal swabs at a pharmacy clinic is of interest as a venue to increase sexually transmissible infections (STIs) screening for chlamydia, gonorrhoea and trichomonas. Women self-collected vaginal swabs at the pharmacy, completed questionnaires and received STI results within 2 h. Women with STIs were offered free treatment. A total of 313 of 777 (40.3%) women consented and prevalence for any STI was 3.9%. Questionnaires demonstrated acceptability for self-collection at the pharmacy, with 63% (95% CI 57.3-68) and 32.3% (95% CI 27.4-37.8) indicating they 'strongly agreed' or 'agreed' that they felt comfortable with pharmacy collection, respectively. Self-collected vaginal swabs for STI testing for women who were at a pharmacy were feasible and acceptable to women.


Assuntos
Programas de Rastreamento/métodos , Aceitação pelo Paciente de Cuidados de Saúde , Farmácias , Infecções Sexualmente Transmissíveis/diagnóstico , Esfregaço Vaginal , Adulto , Estudos de Viabilidade , Feminino , Humanos , Pessoa de Meia-Idade , Manejo de Espécimes/métodos , Inquéritos e Questionários , Adulto Jovem
6.
Water Resour Res ; 53(7): 5209-5219, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28919651

RESUMO

Research gaps in understanding flood changes at the catchment scale caused by changes in forest management, agricultural practices, artificial drainage, and terracing are identified. Potential strategies in addressing these gaps are proposed, such as complex systems approaches to link processes across time scales, long-term experiments on physical-chemical-biological process interactions, and a focus on connectivity and patterns across spatial scales. It is suggested that these strategies will stimulate new research that coherently addresses the issues across hydrology, soil and agricultural sciences, forest engineering, forest ecology, and geomorphology.

7.
Int J Clin Pract ; 68(8): 950-62, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24754872

RESUMO

OBJECTIVE: To systematically review the evidence for health coaching for patients with low back pain and describe the diversity of health coach training and interventions. METHODS: Electronic databases Medline, CINAHL, EMBASE, PsycINFO, AMED and the Cochrane Central Register of Controlled Trials were searched to 24 June 2013 using individually devised strategies. Randomised or quasi randomised controlled trials (RCTs) of health coaching for adults with low back pain of any duration were considered. The overall quality of the body of evidence was assessed using the GRADE approach. Treatment effects were presented as the difference in mean scores with 95% confidence intervals and standardised mean difference at follow-up between health coaching and control groups. Health coaching interventions were compared narratively by their theoretical principles and the training and assessment of heath coaches. RESULTS: Five publications describing three RCTs and one cluster RCT met the criteria for review. A rating of very low was assigned to the body of evidence using the GRADE approach. One RCT found significant improvements in lifting capacity and exercise compliance in favour of the health coaching group at both follow-up points with a large and moderate standardised mean difference. All included studies based health coaching interventions on the transtheoretical model of change however, the content of counselling programmes varied between studies and measures of treatment fidelity were inconclusive. DISCUSSION: Variability in health coaching interventions and a lack of assessment of treatment fidelity in addition to the very low rating of the overall body of evidence identified in the current review renders any estimates of the effect of health coaching on low back pain uncertain. Well-designed RCTs of patients with sub-acute low back pain are required that incorporate clearly described protocols for health coaching interventions and include standardised measures of treatment fidelity.


Assuntos
Exercício Físico , Educação em Saúde/métodos , Dor Lombar/terapia , Cooperação do Paciente/psicologia , Humanos , Dor Lombar/psicologia
8.
Curr Top Behav Neurosci ; 67: 241-262, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39112812

RESUMO

Evidence indicating that exercise benefits mental health symptoms across a range of mental health diagnoses spans decades of scientific literature; however, fewer studies have examined the impact of exercise on posttraumatic stress disorder (PTSD). Exercise is an accessible, cost-effective, and scalable treatment option that has the potential to improve both physiological and psychological symptoms among individuals with PTSD. The purpose of this chapter is to review empirical literature on the role of exercise in the treatment of PTSD. Researchers have demonstrated that exercise improves PTSD symptoms as both a stand-alone treatment and as an adjunct to cognitive behavioral and trauma-focused therapies. Additional research is needed to clarify mechanisms that account for the impacts of exercise on PTSD and to identify which components of exercise (e.g., type of exercise, dose, intensity, frequency) are the most beneficial.


Assuntos
Terapia por Exercício , Exercício Físico , Transtornos de Estresse Pós-Traumáticos , Humanos , Transtornos de Estresse Pós-Traumáticos/terapia , Terapia por Exercício/métodos , Exercício Físico/fisiologia
9.
Clin Genet ; 83(2): 145-54, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22369279

RESUMO

Higher resolution whole-genome arrays facilitate the identification of smaller copy number variations (CNVs) and their integral genes contributing to autism and/or intellectual disability (ASD/ID). Our study describes the use of one of the highest resolution arrays, the Affymetrix(®) Cytogenetics 2.7M array, coupled with quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) for detection and validation of small CNVs. We studied 82 subjects with ASD and ID in total (30 in the validation and 52 in the application cohort) and detected putatively pathogenic CNVs in 6/52 cases from the application cohort. This included a 130-kb maternal duplication spanning exons 64-79 of the DMD gene which was found in a 3-year-old boy manifesting autism and mild neuromotor delays. Other pathogenic CNVs involved 4p14, 12q24.31, 14q32.31, 15q13.2-13.3, and 17p13.3. We established the optimal experimental conditions which, when applied to select small CNVs for QMPSF confirmation, reduced the false positive rate from 60% to 25%. Our work suggests that selection of small CNVs based on the function of integral genes, followed by review of array experimental parameters resulting in highest confirmation rate using multiplex PCR, may enhance the usefulness of higher resolution platforms for ASD and ID gene discovery.


Assuntos
Transtorno Autístico/genética , Análise Citogenética/métodos , Variações do Número de Cópias de DNA , Deficiência Intelectual/genética , Transtorno Autístico/diagnóstico , Estudos de Coortes , Genoma Humano , Humanos , Deficiência Intelectual/diagnóstico , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Reação em Cadeia da Polimerase/métodos
10.
Nat Genet ; 4(4): 421-5, 1993 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8401593

RESUMO

Recently, a mutation in the gene for the neural cell adhesion molecule L1CAM, located at chromosome Xq28, was found in a family with X-linked hydrocephalus (HSAS). However, as the L1CAM mutation could only be identified in one HSAS family, it remained unclear whether or not L1CAM was the gene responsible for HSAS. We have conducted a mutation analysis of L1CAM in 25 HSAS families. The mutation reported previously was not found in any of these families. In one family, however, a 1.3 kilobases (kb) genomic duplication was identified, cosegregating with HSAS and significantly changing the intracellular domain of the L1CAM protein. These results confirm that L1CAM is the HSAS gene.


Assuntos
Moléculas de Adesão Celular Neuronais/genética , Hidrocefalia/genética , Família Multigênica , Cromossomo X , Processamento Alternativo , Antígenos de Superfície/genética , Sequência de Bases , Southern Blotting , Encéfalo/metabolismo , Moléculas de Adesão Celular Neuronais/biossíntese , Mapeamento Cromossômico , DNA/genética , DNA/isolamento & purificação , Feminino , Humanos , Complexo Antígeno L1 Leucocitário , Masculino , Dados de Sequência Molecular , Oligodesoxirribonucleotídeos , Linhagem , Reação em Cadeia da Polimerase/métodos , RNA Mensageiro/metabolismo
11.
Nat Genet ; 8(1): 88-94, 1994 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7987398

RESUMO

Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3' end. Variation in the length of the repeat appears polar. Alleles containing between 34 and 55 repeats, with documented unstable transmissions, were shown to have lost one or both AGG interruptions. These comparisons define an instability threshold of 34-38 uninterrupted CGG repeats. Analysis of premutation alleles in Fragile X syndrome carriers reveals that 70% of these alleles contain a single AGG interruption. These data suggest that the loss of an AGG is an important mutational event in the generation of unstable alleles predisposed to the Fragile X syndrome.


Assuntos
Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA , Cromossomo X , Sequência de Bases , DNA , Proteína do X Frágil da Deficiência Intelectual , Humanos , Masculino , Modelos Genéticos , Dados de Sequência Molecular , Mutação , Sequências Repetitivas de Ácido Nucleico
12.
J Environ Manage ; 101: 92-103, 2012 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-22406849

RESUMO

Discolouration of natural surface waters due to the humic component of dissolved organic carbon (DOC) is a costly problem for water supply companies. This paper reviews what is known about the impacts of prescribed moorland vegetation burning on water colour. Relevant research has taken place at three scales: laboratory experiments on peat cores, plot scale sampling of soil waters and catchment scale sampling of stream waters. While laboratory studies suggest burning increases colour production, the evidence from catchment and plot studies is contradictory. Plot studies suggest colour production may decrease or remain unchanged following burning although there is evidence for some transient changes. Catchment studies suggest prescribed moorland burning causes stream water colour to increase, although in most cases the evidence is not clear cut since most studies could not clearly disentangle the effects of burning from those of vegetation cover. The differences in findings between plot and catchment studies may be explained by: i) the short-term nature of some studies which do not measure long-term response and recovery times to burning; ii) the lack of colour measurements from shallow soil depths which contribute more to streamflow than soil water from deeper in the peat; and iii) the possibility of hydrological interactions occurring between different experimental plots at some sites. Additionally, the increase in recent patch burning in some catchments that has been statistically attributed by some authors to increases in stream water colour cannot be reconciled with theoretical calculations. When dilution with waters derived from other parts of the catchment are taken into account, large values of colour have to be theoretically derived from those recently burnt areas that occupy a small proportion of the catchment area in order to balance the change in stream water colour observed in recent years. Therefore, much further process-based work is required to properly investigate whether prescribed vegetation burning is a direct driver of enhanced colour and DOC in upland streams, rivers and lakes.


Assuntos
Cor , Incêndios , Água Doce , Qualidade da Água , Carbono , Água Subterrânea , Lagos , Rios , Solo
13.
Clin Genet ; 79(4): 355-62, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20573161

RESUMO

Autism severity is associated with child and maternal MAOA genotypes. We replicated and extended a previously reported association between autism severity and a functional polymorphism in the monoamine oxidase A (MAOA) promoter region, MAOA-uVNTR, in a sample of 119 males, aged 2-13 years, with autism spectrum disorder from simplex families. We demonstrated that (i) boys with the low activity 3-repeat MAOA allele had more severe sensory behaviors, arousal regulation problems, and aggression, and worse social communication skills than males with the high activity allele; and (ii) problems with aggression, as well as with fears and rituals, were modified by the mothers' genotype. Boys with the 4-repeat high activity allele who had homozygous 4-repeat mothers showed increased severity of these behaviors relative to those born to heterozygous mothers. These findings indicate the importance of considering maternal genotype in examining associations of MAOA and other genes with behavior in male offspring.


Assuntos
Transtorno Autístico/psicologia , Monoaminoxidase/genética , Polimorfismo Genético , Adolescente , Análise de Variância , Transtorno Autístico/enzimologia , Transtorno Autístico/genética , Criança , Transtornos do Comportamento Infantil/enzimologia , Transtornos do Comportamento Infantil/genética , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Genótipo , Humanos , Masculino , Repetições Minissatélites/genética , Regiões Promotoras Genéticas/genética
14.
Sci Total Environ ; 766: 144496, 2021 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-33421775

RESUMO

Afforestation is a significant cause of global peatland degradation. In some regions, afforested bogs are now undergoing clear-felling and restoration, often known as forest-to-bog restoration. We studied differences in water-table depth (WTD) and porewater chemistry between intact, afforested, and restored bogs at a raised bog and blanket bog location. Solute concentrations and principal component analysis suggested that water-table drawdown and higher electrical conductivity (EC) and ammonium (NH4-N) concentrations were associated with afforestation. In contrast, higher dissolved organic carbon (DOC) and phosphate (PO4-P) concentrations were associated with deforestation. Drying-rewetting cycles influenced seasonal variability in solute concentrations, particularly in shallower porewater at the raised bog location. WTD was significantly deeper in the oldest raised bog restoration site (~9 years post-restoration) than the intact bog (mean difference = 6.2 cm). However, WTD in the oldest blanket bog restoration site (~17 years post-restoration), where furrows had been blocked, was comparable to the intact bog (mean difference = 1.2 cm). When averaged for all porewater depths, NH4-N concentrations were significantly higher in the afforested than the intact sites (mean difference = 0.77 mg L-1) whereas significant differences between the oldest restoration sites and the intact sites included higher PO4-P (mean difference = 70 µg L-1) in the raised bog and higher DOC (mean difference = 5.6 mg L-1), EC (mean difference = 19 µS cm-1) and lower SUVA254 (mean difference = 0.13 L mg-1 m-1) in the blanket bog. Results indicate felled waste (brash) may be a significant source of soluble C and PO4-P. Mean porewater PO4-P concentrations were between two and five times higher in furrows and drains in which brash had accumulated compared to other locations in the same sites where brash had not accumulated. Creating and maintaining brash-free buffer zones may therefore minimise freshwater impacts.

15.
Hum Genet ; 128(2): 179-94, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20512354

RESUMO

Array CGH enables the detection of pathogenic copy number variants (CNVs) in 5-15% of individuals with intellectual disability (ID), making it a promising tool for uncovering ID candidate genes. However, most CNVs encompass multiple genes, making it difficult to identify key disease gene(s) underlying ID etiology. Using array CGH we identified 47 previously unreported unique CNVs in 45/255 probands. We prioritized ID candidate genes using five bioinformatic gene prioritization web tools. Gene priority lists were created by comparing integral genes from each CNV from our ID cohort with sets of training genes specific either to ID or randomly selected. Our findings suggest that different training sets alter gene prioritization only moderately; however, only the ID gene training set resulted in significant enrichment of genes with nervous system function (19%) in prioritized versus non-prioritized genes from the same de novo CNVs (7%, p < 0.05). This enrichment further increased to 31% when the five web tools were used in concert and included genes within mitogen-activated protein kinase (MAPK) and neuroactive ligand-receptor interaction pathways. Gene prioritization web tools enrich for genes with relevant function in ID and more readily facilitate the selection of ID candidate genes for functional studies, particularly for large CNVs.


Assuntos
Hibridização Genômica Comparativa/métodos , Deficiência Intelectual/genética , Biologia Computacional , Genes , Humanos
16.
J Clin Microbiol ; 48(9): 3236-43, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20668135

RESUMO

A multicenter clinical study was conducted to evaluate the performance characteristics of the Abbott RealTime CT/NG assay, a multiplex real-time PCR assay, for simultaneous detection of Chlamydia trachomatis and Neisseria gonorrhoeae. The specimens were collected from a total of 3,832 male and female subjects at 16 geographically diverse sites. Specimens included male and female urine samples, male urethral swabs, female endocervical swabs, and self-collected and clinician-collected vaginal swabs. Specimens were tested with the automated Abbott RealTime CT/NG assay, Aptima Combo 2 assay (Gen-Probe), ProbeTec ET CT/GC assay (Becton Dickinson), and culture for N. gonorrhoeae. The Aptima Combo 2 assay, the ProbeTec assay, and the N. gonorrhoeae culture were used as the reference assays. For each subject, a patient infected status (PIS) was determined based on the combined results from the reference assays. The overall prevalence in female subjects was 8.9% for C. trachomatis and 3.8% for N. gonorrhoeae. The overall male prevalence was 18.2% for C. trachomatis and 16.7% for N. gonorrhoeae. The overall sensitivity and specificity of the Abbott RealTime CT/NG assay were 92.4% and 99.2% for C. trachomatis and 96.9% and 99.7% for N. gonorrhoeae, respectively. In comparison, the sensitivity and specificity, respectively, for the Aptima Combo 2 assay were 94.5% and 99.0% for C. trachomatis and 96.1% and 99.5% for N. gonorrhoeae, and those for the ProbeTec ET assay were 90.3% and 99.5% for C. trachomatis and 92.0% and 97.3% for N. gonorrhoeae in this study. The Abbott RealTime CT/NG assay offers C. trachomatis and N. gonorrhoeae dual detection with high sensitivity and specificity. The automated assay provides a useful alternative nucleic acid amplification assay for clinical laboratories and clinicians.


Assuntos
Técnicas Bacteriológicas/métodos , Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis/isolamento & purificação , Gonorreia/diagnóstico , Neisseria gonorrhoeae/isolamento & purificação , Reação em Cadeia da Polimerase/métodos , Adolescente , Adulto , Automação/métodos , Colo do Útero/microbiologia , Infecções por Chlamydia/epidemiologia , Feminino , Gonorreia/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Sensibilidade e Especificidade , Uretra/microbiologia , Urina/microbiologia , Vagina/microbiologia , Adulto Jovem
17.
J Med Genet ; 46(10): 680-8, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19625284

RESUMO

BACKGROUND: Autism spectrum disorders (ASDs) are common, heritable neurobiologic conditions of unknown aetiology confounded by significant clinical and genetic heterogeneity. METHODS: This study evaluated a broad categorisation of phenotypic traits (or phenome) for 100 subjects with Autism Diagnostic Interview-Revised/Autism Diagnostic Observation Schedule-Generic (ADI-R/ADOS-G) confirmed idiopathic ASD undergoing 1 Mb bacterial artificial chromosome (BAC) array comparative genomic hybridisation (CGH). RESULTS AND CONCLUSIONS: Array CGH uncovered nine different pathogenic copy number variants (pCNVs) in 9/100 ASD subjects having complex phenotypes (ASD+/- intellectual disability (ID; IQ<70)) and/or physical anomalies), normal karyotype, fragile X analysis, and comprehensive evaluation by a clinical geneticist. Unique pCNVs in our cohort included del(5)(p15.2p15.31) (2.4 Mb), del(3)(p24.3) (0.1 Mb) and dup(18)(p11.3)(0.9 Mb). Five pCNVs were recurrent in our cohort or were previously described in subjects with ASD+/-ID: (dup(7)(q11.23)(1.5 Mb); del(2)(p15p16.1) (6.1 Mb and 7.9 Mb); del(14)(q11.2) (0.7 Mb) and dup(15)(q11q13) (10 Mb), including del(X)(p11.22) (470 Kb) in two autistic brothers. Male: female distribution in subjects with pCNVs was reduced to 1.25:1 from 3.2:1 in the original cohort. The authors stratified the study population according to a broad spectrum of clinical features and correlated specific phenotypes with respect to CNV load and pathogenicity. The findings indicate increased prevalence of pCNVs in subjects with microcephaly (<2nd centile; n = 2 of 4 ASD subjects with microcephaly; p = 0.04), and ID (n = 9 of 64 subjects with ASD and ID; p = 0.02). Interestingly, in the absence of ID co-morbidity with an ASD, no pCNVs were found. The relationship between parental ages at delivery and CNV load and pathogenicity was also explored.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Variação Genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Dosagem de Genes , Genótipo , Humanos , Masculino , Fenótipo
18.
J Dairy Sci ; 93(11): 5082-90, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20965322

RESUMO

This study determined the vitamin D(3) content and variability of retail milk in the United States having a declared fortification level of 400 IU (10 µg) per quart (qt; 1 qt=946.4 mL), which is 25% daily value per 8 fluid ounce (236.6 mL) serving. In 2007, vitamin D(3) fortified milk (skim, 1%, 2%, whole, and 1% fat chocolate milk) was collected from 24 statistically selected supermarkets in the United States. Additionally, 2% milk samples from an earlier 2001 USDA nationwide collection were reanalyzed. Vitamin D(3) was determined using a specifically validated method involving HPLC with UV spectroscopic detection and vitamin D(2) as an internal standard. Quality control materials were analyzed with the samples. Of the 120 milk samples procured in 2007, 49% had vitamin D(3) within 100 to 125% of 400 IU (10 µg)/qt (label value), 28% had 501 to 600 IU (12.5-15 µg)/qt, 16% had a level below the label amount, and 7% had greater than 600 IU (15 µg)/qt (>150% of label). Even though the mean vitamin D(3) content did not differ statistically between milk types, a wide range in values was found among individual samples, from nondetectable [<20 IU (0.5 µg)/qt] for one sample to almost 800 IU (20 µg)/qt, with a trend toward more samples of whole milk having greater than 150% of the labeled content. On average, vitamin D(3) in 2% milk was higher in 2007 compared with in 2001 [473 vs. 426 IU (11.8 vs. 10.6 µg)/qt].


Assuntos
Colecalciferol/análise , Colecalciferol/normas , Alimentos Fortificados/normas , Leite/química , Animais , Bases de Dados Factuais , Alimentos Fortificados/análise , Leite/normas , Necessidades Nutricionais , Controle de Qualidade , Padrões de Referência , Estados Unidos , United States Department of Agriculture
19.
Neurobiol Dis ; 36(2): 303-11, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19660547

RESUMO

This study assessed the potential for functional and anatomical recovery of the diseased aged primate nigrostriatal system, in response to trophic factor gene transfer. Aged rhesus monkeys received a single intracarotid infusion of MPTP, followed one week later by MRI-guided stereotaxic intrastriatal and intranigral injections of lentiviral vectors encoding for glial derived neurotrophic factor (lenti-GDNF) or beta-galactosidase (lenti-LacZ). Functional analysis revealed that the lenti-GDNF, but not lenti-LacZ treated monkeys displayed behavioral improvements that were associated with increased fluorodopa uptake in the striatum ipsilateral to lenti-GDNF treatment. GDNF ELISA of striatal brain samples confirmed increased GDNF expression in lenti-GDNF treated aged animals that correlated with functional improvements and preserved nigrostriatal dopaminergic markers. Our results indicate that the aged primate brain challenged by MPTP administration has the potential to respond to trophic factor delivery and that the degree of neuroprotection depends on GDNF levels.


Assuntos
Envelhecimento , Modelos Animais de Doenças , Técnicas de Transferência de Genes , Fator Neurotrófico Derivado de Linhagem de Célula Glial/genética , Transtornos Parkinsonianos/genética , Fatores Etários , Envelhecimento/genética , Animais , Corpo Estriado/química , Corpo Estriado/metabolismo , Vetores Genéticos/administração & dosagem , Vetores Genéticos/uso terapêutico , Fator Neurotrófico Derivado de Linhagem de Célula Glial/administração & dosagem , Fator Neurotrófico Derivado de Linhagem de Célula Glial/biossíntese , Lentivirus/genética , Macaca mulatta , Masculino , Transtornos Parkinsonianos/fisiopatologia , Transtornos Parkinsonianos/prevenção & controle , Desempenho Psicomotor/efeitos dos fármacos , Desempenho Psicomotor/fisiologia , Recuperação de Função Fisiológica/efeitos dos fármacos , Recuperação de Função Fisiológica/genética
20.
Mol Psychiatry ; 13(6): 614-23, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18317467

RESUMO

The heterogeneity of autism spectrum disorders (ASDs) confounds attempts to identify causes and pathogenesis. Identifiable endophenotypes and reliable biomarkers within ASDs would help to focus molecular research and uncover genetic causes and developmental mechanisms. We used dense surface-modelling techniques to compare the facial morphology of 72 boys with ASD and 128 first-degree relatives to that of 254 unrelated controls. Pattern-matching algorithms were able to discriminate between the faces of ASD boys and those of matched controls (AUC=0.82) and also discriminate between the faces of unaffected mothers of ASD children and matched female controls (AUC=0.76). We detected significant facial asymmetry in boys with ASD (P<0.01), notably depth-wise in the supra- and periorbital regions anterior to the frontal pole of the right hemisphere of the brain. Unaffected mothers of children with ASD display similar significant facial asymmetry, more exaggerated than that in matched controls (P<0.03) and, in particular, show vertical asymmetry of the periorbital region. Unaffected fathers of children with ASD did not show facial asymmetry to a significant degree compared to controls. Two thirds of unaffected male siblings tested were classified unseen as more facially similar to unrelated boys with ASD than to unrelated controls. These unaffected male siblings and two small groups of girls with ASD and female siblings, all show overall directional asymmetry, but without achieving statistical significance in two-tailed t-tests of individual asymmetry of ASD family and matched control groups. We conclude that previously identified right dominant asymmetry of the frontal poles of boys with ASD could explain their facial asymmetry through the direct effect of brain growth. The atypical facial asymmetry of unaffected mothers of children with ASD requires further brain studies before the same explanation can be proposed. An alternative explanation, not mutually exclusive, is a simultaneous and parallel action on face and brain growth by genetic factors. Both possibilities suggest the need for coordinated face and brain studies on ASD probands and their first-degree relatives, especially on unaffected mothers, given that their unusual facial asymmetry suggests an ASD susceptibility arising from maternal genes.


Assuntos
Transtorno Autístico/genética , Encéfalo/anatomia & histologia , Face/anatomia & histologia , Assimetria Facial/genética , Expressão Facial , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , História do Século XVII , Humanos , Masculino , Mães , Irmãos
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