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1.
Environ Monit Assess ; 195(7): 852, 2023 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-37326797

RESUMO

Increasing reports of cyanobacteria or cyanotoxins around the world expose a major threat for the environment, animal, and human health. Current water treatment processes are ineffective at eliminating cyanotoxins; hence, risk management relies mostly on early detection and on the development of specific regulatory frameworks. In developed countries, well-documented monitoring activities offer a good assessment of the cyanobacterial and/or cyanotoxin status and are used to prevent intoxications. In developing countries such as Peru, despite their potential threat to the environment and public health, cyanobacteria and cyanotoxins are still poorly studied. We found that the regulatory measures regarding cyanobacteria and/or cyanotoxin are almost non-existent. We also present and discuss some examples of recent monitoring efforts underwent by isolated local authorities and scientific reports that, whereas limited, may provide some important insights to be considered nationally. A revision of the available information of planktonic cyanobacteria or cyanotoxins in Peruvian freshwater lentic water bodies revealed a total of 50 documented reports of 15 different genera across 19 water bodies, including the reported highly toxic Dolichospermum and Microcystis. A unique case of microcystin-LR has been documented. We propose some recommendations to be implemented to improve potential toxic cyanobacteria risk management that include incorporating a widespread monitoring of cyanobacterial communities in lakes and reservoirs used for human consumption via specific guidelines. Aligning Peruvian regulations on cyanobacteria and cyanotoxins to international standards may also support law enforcement and ensure compliance.


Assuntos
Cianobactérias , Plâncton , Humanos , Animais , Peru , Prevalência , Monitoramento Ambiental , Microcistinas/análise , Toxinas de Cianobactérias , Lagos , Formulação de Políticas
2.
J Perinat Med ; 50(5): 630-633, 2022 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-35166090

RESUMO

OBJECTIVES: To examine the relationship between postpartum depression (PPD), mode of delivery (MOD), and indication for unscheduled cesarean delivery (uCD). METHODS: Patients with antenatal and postpartum Edinburgh Postnatal Depression Scale (EPDS) scores were compared by MOD and indication for uCD if applicable. Patients with an antenatal EPDS>12 were excluded to ascertain the incidence of new depression. The primary outcome was EPDS≥13 by MOD. The secondary outcome was EPDS≥13 by indication for uCD. RESULTS: Seven hundred and thirty eight patients met inclusion criteria. There were statistically significant differences in MOD by age, race, BMI, and multi-gestation pregnancy. Patients delivered via uCD had a higher rate of peripartum complications and NICU admission. There were no differences in medical comorbidities or use of psychiatric medications by MOD. There was no difference in EPDS by MOD. The rate of PPD was higher in patients with uCD for non-reassuring fetal heart tones (NRFHT) compared to other indications for uCD (p=0.02). CONCLUSIONS: While there was no difference in the incidence of PPD by MOD, the incidence of PPD was higher among patients delivered via uCD for NRFHT. These findings may have implications for patient counseling, post-operative mental health surveillance, and support of postpartum patients.


Assuntos
Depressão Pós-Parto , Cesárea/efeitos adversos , Cesárea/psicologia , Depressão Pós-Parto/epidemiologia , Depressão Pós-Parto/etiologia , Depressão Pós-Parto/psicologia , Feminino , Humanos , Período Pós-Parto , Gravidez , Escalas de Graduação Psiquiátrica , Estudos Retrospectivos
4.
BMC Prim Care ; 25(1): 63, 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38383303

RESUMO

BACKGROUND: Patient-physician relationships in healthcare can influence healthcare provision, patient engagement, and health outcomes. Little is known about youth preferences on types and characteristics of their healthcare providers. The aim of this study was to assess youth perspectives on preferences for and interactions with their healthcare providers. METHODS: We posed 5 open-ended questions to 1,163 MyVoice participants, a nationwide text message cohort of United States youth aged 14-24, on April 10, 2020 related to youth preferences for healthcare providers. Content analysis was used to develop a codebook. Responses were independently coded by two reviewers with discrepancies discussed to reach consensus. Descriptive statistics were calculated for demographics and frequency of codes. RESULTS: 944 (81%) participants responded to at least one question. Respondents had a mean age of 18.9 years (SD: 2.8) and were a majority female (53.6%) and White (56.3%). Youth reported "kindness" or other personality traits (31%) and education (30%) as important in choosing their doctor. Patient-physician concordance was not important to many youths (44%) and among those who reported concordance as important (55%), having the same gender was the most noted (68%). Youth suggested respect, open conversation, and addressing issues directly to help alleviate uncomfortable situations, though some would simply switch providers. CONCLUSION: Personality and empathy are important provider characteristics valued by youth. Female respondents preferred gender concordant providers, particularly for sexual health-related issues, and non-white respondents were more likely to prefer racial concordance. Strengthening professional and interpersonal skills among youth-serving providers may improve healthcare engagement and satisfaction among youth.


Assuntos
Instalações de Saúde , Relações Médico-Paciente , Humanos , Adolescente , Feminino , Estados Unidos , Pesquisa Qualitativa , Pessoal de Saúde
5.
Cureus ; 15(12): e50586, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38222203

RESUMO

In the last couple of decades, much progress has been made in studying bacteria living in humans. However, there is much more to learn about bacteria immune cell interactions. Here, we show that anaerobic bacteria do not grow when cultured overnight with human cells under atmospheric air. Air contains about 18% oxygen, which inhibits the growth of these bacteria while supporting the cultivation of human cells. The bacteria cultured with human peripheral blood mononuclear cells (PBMCs) inflamed with phytohemagglutinin (PHA) greatly increased the production of proinflammatory cytokines like tumor necrosis factor-alpha (TNFα) while inhibiting the production of monocyte chemoattractant protein-1 (MCP-1), an important chemokine.

6.
AJOG Glob Rep ; 3(3): 100253, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37560009

RESUMO

BACKGROUND: Quarantining and isolation during previous pandemics have been associated with higher levels of depression symptomatology. Studies in other countries found elevated rates of anxiety and/or depression among pregnant people during the COVID-19 pandemic compared with prepandemic rates. New York City was the initial epicenter of the pandemic in the United States, and the effects of the pandemic on perinatal depression in this population are not well known. OBJECTIVE: This study aimed to evaluate the rates of perinatal depression before and during the COVID-19 pandemic. STUDY DESIGN: This is a single-center retrospective cohort study of patients screened for perinatal depression with the Edinburgh Postnatal Depression Scale at 2 private academic practices in New York City. This screen is done in these practices at the time of the glucose challenge test and at the postpartum visit. Patients aged ≥18 years who completed a screen at a postpartum visit and/or glucose challenge test from February 1, 2019 to July 31, 2019 and from February 1, 2020 to July 31, 2020 were identified, and the 2019 and 2020 groups were compared. The primary outcome was a positive screen, defined as ≥13 and ≥15 for postnatal and prenatal screens, respectively. Secondary outcomes included monthly changes in rates of positive screens and factors associated with perinatal depression. Data were analyzed using Mann-Whitney U test, chi-square, or Fisher exact test, and univariate and multivariate analyses with P<.05 defined as significant. RESULTS: A total of 1366 records met the inclusion criteria; 75% of the prepandemic (2019) records were included, as opposed to 65% of pandemic (2020) records due to a lower screen completion rate in the pandemic cohort. The 2020 cohort had a higher proportion of Hispanic patients (P=.003) and higher rates of diabetes mellitus (P=.007), preterm labor (P=.03), and current or former drug use (P<.001). The 2019 cohort had higher rates of hypertension (P=.002) and breastfeeding (P=.03); 4.6% of the 2020 cohort had a suspected or confirmed COVID-19 infection. There was no difference in perinatal depression between the 2019 and 2020 cohorts (2.8% vs 2.6%; P>.99). This finding persisted after adjusting for baseline differences (adjusted odds ratio, 0.89; 95% confidence interval, 0.38-1.86; P=.76). There were no differences in rates of positive Edinburgh Postnatal Depression Scale by month. Several risk factors were associated with a positive screen, including being unmarried (P<.001), pulmonary disease (P=.02), depression (P<.001), anxiety (P=.01), bipolar disorder (P=.009), and use of anxiolytics (P=.04). CONCLUSION: There were no differences in the rates of perinatal depression between the periods before and during the COVID-19 pandemic. The rate of perinatal depression in this cohort was below the reported averages in the literature. Fewer women were screened for perinatal depression in 2020, which likely underestimated the prevalence of depression in our cohort. These findings highlight potential gaps in care in a pandemic setting.

7.
Brain Behav Immun ; 26(7): 1122-7, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22884899

RESUMO

Killer-cell immunoglobulin-like receptor (KIR) proteins are expressed on natural killer (NK) cells and appear important in innate and adaptive immunity. There are about 14 KIR genes on chromosome 19q13.4, composed of those that inhibit and those that activate NK cell killing. Haplotypes have different combinations of these genes meaning that not all genes are present in a subject. There are two main classes of cognate human leukocyte antigen (HLA) ligands (HLA-Bw4 and HLA-C1/C2) that bind to the inhibitory/activating receptors. As a general rule, the inhibitory state is maintained except when virally infected or tumor cells are encountered; however, both increased activation and inhibition states have been associated with susceptibility and protection against numerous disease states including cancer, arthritis, and psoriasis. Utilizing DNA from 158 Caucasian subjects with autism and 176 KIR control subjects we show for the first time a highly significant increase in four activating KIR genes (2DS5, 3DS1, 2DS1 and 2DS4) as measured by chi square values and odds ratios. In addition, our data suggests a highly significant increase in the activating KIR gene 2DS1 and its cognate HLA-C2 ligand (2DS1+C2; p = 0.00003 [Odds ratio = 2.87]). This information ties together two major immune gene complexes, the human leukocyte complex and the leukocyte receptor complex, and may partially explain immune abnormalities observed in many subjects with autism.


Assuntos
Transtorno Autístico/imunologia , Antígenos HLA/imunologia , Receptores KIR/imunologia , Transtorno Autístico/genética , Estudos de Coortes , DNA/genética , Feminino , Frequência do Gene , Genótipo , Antígenos HLA/genética , Humanos , Células Matadoras Naturais/metabolismo , Masculino , Razão de Chances , Reação em Cadeia da Polimerase , Receptores KIR/genética
8.
Paediatr Perinat Epidemiol ; 26(3): 250-63, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22471684

RESUMO

Very preterm birth (VPTB) is a leading cause of infant mortality, morbidity and racial disparity in the US. The underlying causes of VPTB are multiple and poorly understood. The California Very Preterm Birth Study was conducted to discover maternal and infant genetic and environmental factors associated with VPTB. This paper describes the study design, population, data and specimen collection, laboratory methods and characteristics of the study population. Using a large, population-based cohort created through record linkage of livebirths delivered from 2000 to 2007 in five counties of southern California, and existing data and banked specimens from statewide prenatal and newborn screening, 1100 VPTB cases and 796 control mother-infant pairs were selected for study (385/200 White, 385/253 Hispanic and 330/343 Black cases/controls, respectively). Medical record abstraction of cases was conducted at over 50 hospitals to identify spontaneous VPTB, improve accuracy of gestational age, obtain relevant clinical data and exclude cases that did not meet eligibility criteria. VPTB was defined as birth at <32 weeks in Whites and Hispanics and <34 weeks in Blacks. Approximately 55% of all VPTBs were spontaneous and 45% had medical indications or other exclusions. Of the spontaneous VPTBs, approximately 41% were reported to have chorioamnionitis. While the current focus of the California Very Preterm Birth Study is to assess the role of candidate genetic markers on spontaneous VPTB, its design enables the pursuit of other research opportunities to identify social, clinical and biological determinants of different types of VPTB with the ultimate aim of reducing infant mortality, morbidity and racial disparities in these health outcomes in the US and elsewhere.


Assuntos
Nascimento Prematuro/epidemiologia , Projetos de Pesquisa , Negro ou Afro-Americano , California/epidemiologia , Estudos de Casos e Controles , Feminino , Idade Gestacional , Hispânico ou Latino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Gravidez , População Branca
9.
J Cannabis Res ; 4(1): 57, 2022 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-36324130

RESUMO

BACKGROUND: Cannabis sativa is a primarily dioecious angiosperm that exhibits sexual developmental plasticity. Developmental genes for staminate male flowers have yet to be elucidated; however, there are regions of male-associated DNA from Cannabis (MADC) that correlate with the formation of pollen producing staminate flowers. MADC2 is an example of a PCR-based genetic marker that has been shown to produce a 390-bp amplicon that correlates with the expression of male phenotypes. We demonstrate applications of a cost-effective high-throughput male genotyping assay and other genotyping applications of male identification in Cannabis sativa. METHODS: In this study, we assessed data from 8200 leaf samples analyzed for real-time quantitative polymerase chain reaction (qPCR) detection of MADC2 in a commercial testing application offered through Steep Hill Laboratories. Through validation, collaborative research projects, and follow-up retest analysis, we observed a > 98.5% accuracy of detection of MADC2 by qPCR. We also carried out assay development for high-resolution melting analysis (HRM), loop-mediated isothermal amplification (LAMP), and TwistDx recombinase amplification (RPA) assays using MADC2 for male identification. RESULTS: We demonstrate a robust high-throughput duplex TaqMan qPCR assay for identification of male-specific genomic signatures using a novel MADC2 qPCR probe. The qPCR cycle quotient (Cq) value representative of MADC2 detection in 3156 males and the detection of tissue control cannabinoid synthesis for 8200 samples and the absence of MADC2 detection in 5047 non-males demonstrate a robust high-throughput real-time genotyping assay for Cannabis. Furthermore, we also demonstrated the viability of using nearby regions to MADC2 with novel primers as alternative assays. Finally, we also show proof of concept of several additional commercially viable sex determination methodologies for Cannabis sativa. DISCUSSION: In industrial applications, males are desirable for their more rapid growth and higher quality fiber quality, as well as their ability to pollinate female plants and produce grain. In medicinal applications, female cultivars are more desirable for their ability to produce large amounts of secondary metabolites, specifically the cannabinoids, terpenes, and flavonoids that have various medicinal and recreational properties. In previous studies, traditional PCR and non-high-throughput methods have been reported for the detection of male cannabis, and in our study, we present multiple methodologies that can be carried out in high-throughput commercial cannabis testing. CONCLUSION: With these markers developed for high-throughput testing assays, the Cannabis industry will be able to easily screen and select for the desired sex of a given cultivar depending on the application.

10.
Pediatr Res ; 70(6): 642-6, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21857382

RESUMO

Studies suggest that genetic polymorphisms may increase an individual's susceptibility to CP. Most findings have yet to be corroborated in an independent cohort. This case-control study is nested within all 334,333 infants ≥36 wk gestation born at Kaiser Permanente Medical Care Program, 1991-2002. We included only non-Hispanic whites who had a neonatal blood sample available. Case patients (n = 138) were identified from medical records to have spastic or dyskinetic CP. Controls (n = 165) were randomly selected from the population. We genotyped polymorphisms previously associated with CP: inducible NOS (iNOS)-231, apolipoprotein E (apoE) ε2 and ε4 alleles, TNF-α-308, IL-8 -251, lymphotoxin 60, endothelial NOS -922, endothelial protein C receptor 219, mannose-binding lectin 54 and 52, factor V Leiden, methyltetrahydrofolate reductase 1298 and 667, prothrombin 20210, and platelet activator inhibitor 11053. Similar to previous reports, the iNOS-231 T allele (25.7 versus 18.9%, p = 0.04) and the apoE ε4 allele (19.3 versus 13.2%, p = 0.04) were more common in patients with CP than in controls. However, there was no statistically significant association between any genetic polymorphism and CP after correction for multiple comparisons.


Assuntos
Apolipoproteínas E/genética , Paralisia Cerebral/genética , Predisposição Genética para Doença/genética , Óxido Nítrico Sintase Tipo II/genética , Polimorfismo de Nucleotídeo Único/genética , California , Estudos de Casos e Controles , Fluorescência , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Modelos Logísticos , População Branca/genética
11.
Ann Neurol ; 66(5): 663-70, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19938160

RESUMO

OBJECTIVE: Chorioamnionitis is associated with increased risk for cerebral palsy (CP) in term infants. A functional polymorphism in the interleukin-6 (IL-6) gene has been implicated in newborn brain injury. We studied whether the IL-6 -174 G/C polymorphism confers increased risk for CP in term infants. METHODS: This population-based case-control study included 334,333 live-born infants born at >or=36 weeks gestation within Kaiser Permanente Medical Care Program from 1991 to 2002. Case patients (n = 250) were identified from electronic records and confirmed by chart review, and comprised all infants with spastic or dyskinetic CP not caused by developmental abnormalities who had a neonatal blood specimen available for study. Control patients (n = 305) were randomly selected from the study population. RESULTS: Compared with genotype GG, the less common CC genotype was associated with increased risk for overall CP (odds ratio [OR], 2.6; 95% confidence interval [CI], 1.5-4.6), quadriparetic CP (OR, 4.1; 95% CI, 1.8-9.3), and hemiparetic CP (OR, 2.7; 95% CI, 1.3-5.7), after controlling for race. The C allele conferred increased risk for CP in both recessive and additive genetic models. In multivariate analysis controlling for race, independent risk factors for CP included CC genotype compared with GG (OR, 2.4; 95% CI, 1.3-4.4), clinical chorioamnionitis (OR, 4.6; 95% CI, 2.1-10.4), maternal age >or= 35 (OR, 2.6; 95% CI, 1.6-4.1), and male sex (OR, 1.6; 95% CI, 1.1-2.4). INTERPRETATION: Our data suggest that a functional polymorphism in the IL-6 gene is a risk factor for CP among term and near-term infants.


Assuntos
Paralisia Cerebral/genética , Interleucina-6/genética , Adolescente , Adulto , Estudos de Casos e Controles , Paralisia Cerebral/diagnóstico , Estudos de Coortes , Feminino , Marcadores Genéticos/genética , Genótipo , Humanos , Recém-Nascido , Masculino , Polimorfismo Genético/genética , Fatores de Risco , Adulto Jovem
12.
J Clin Med Res ; 12(9): 543-559, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32849943

RESUMO

BACKGROUND: The use of ventricular assist devices (VADs) has become predominant in this era of medicine. It is commonly used as a bridge to transplant, recovery and as a destination therapy for patients with severe heart failure, who are not responsive to maximum optimal management or ineligible for transplant. However, several complications are known to occur with the use of these devices. In this research, we will compare gastrointestinal bleeding in patients who used centrifugal flow versus axial flow VADs. We hope that the result of this meta-analysis and the review presented provide adequate information to future researchers, physicians and other healthcare professionals who are interested in this topic. METHODS: Published articles evaluated for inclusion were obtained from MEDLINE (PubMed), Cochrane, EBSCO, clinicaltrials.gov, and international clinical trials registry. This research was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Procured articles were reviewed by two independent reviewers. Only randomized control trials and observational studies were used. Quality assessment was done with Cochrane Collaboration's tool (RoB.2 with visualization through robviz) and Newcastle-Ottawa Scale (NOS). Data analysis was carried out with the use of R data analysis tool (version 4.0.0; release date: April 24th, 2020). RESULTS: At the end of this meta-analysis, the occurrence of gastrointestinal bleeding was not significantly different between both groups; with odds ratio (OR): 0.81; 95% confidence interval (CI): 0.65 - 1.00; P value = 0.05. Between-study variance (Tau-squared) was zero (0), standard error (SE) = 0.06. The degree of heterogeneity measured with I-squared statistic was 0% (minimal). Egger's regression test was not statistically significant, P = 0.93. Symmetry of distribution was observed on the funnel plot. Trim and fill analysis showed no missing studies on the left; SE = 1.68. CONCLUSIONS: The result obtained from this research indicates that the occurrence of gastrointestinal bleeding is not significantly different in both groups of patients, irrespective of the type of continuous flow VAD used. Although, the study sample used in this meta-analysis was limited.

13.
PLoS One ; 14(9): e0222363, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31513654

RESUMO

Terpenes are responsible for most or all of the odor and flavor properties of Cannabis sativa, and may also impact effects users experience either directly or indirectly. We report the diversity of terpene profiles across samples bound for the Washington dispensary market. The remarkable degree of variation in terpene profiles ultimately results from action of a family of terpene synthase genes, only some of which have been described. Using a recently available genome assembly we describe 55 terpene synthases with genomic context, and tissue specific expression. The family is quite diverse from a protein similarity perspective, and subsets of the family are expressed in all tissues in the plant, including a set of root specific monoterpene synthases that could well have agronomic importance. Ultimately understanding and breeding for specific terpene profiles will require a good understanding of the gene family that underlies it. We intend for this work to serve as a foundation for that.


Assuntos
Alquil e Aril Transferases/genética , Cannabis/genética , Terpenos/metabolismo , Alquil e Aril Transferases/metabolismo , Cannabis/química , Clonagem Molecular/métodos , Evolução Molecular , Flores/genética , Genes de Plantas , Genoma de Planta/genética , Genômica , Filogenia , Terpenos/química
14.
J Autism Dev Disord ; 49(1): 410-414, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30047098

RESUMO

Previous research indicates that infection, especially from viruses in the family Herpesviridae, may play a role in the etiology of some cases of autism spectrum disorder (ASD). Using a case-control design and the polymerase chain reaction with site-specific primers, we screened newborn and childhood blood samples for the presence of eight human herpesviruses. Herpesvirus DNA was detected in 4 of 225 ASD individuals and 2 of 235 controls, with the most frequently detected virus being HHV-6B. Although this study does not detect a significant ASD-Herpesviridae association, it is limited by the use of site-specific primers. We suggest that new techniques using bioinformatics to search next-generation sequencing databases will be more revealing of possible ASD-virus associations.


Assuntos
Transtorno do Espectro Autista/virologia , Infecções por Herpesviridae/epidemiologia , Técnicas de Diagnóstico Molecular/estatística & dados numéricos , Transtorno do Espectro Autista/sangue , Transtorno do Espectro Autista/epidemiologia , Estudos de Casos e Controles , Criança , Feminino , Infecções por Herpesviridae/sangue , Humanos
15.
AoB Plants ; 11(6): plz074, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32010439

RESUMO

Gene copy number (CN) variation is known to be important in nearly every species where it has been examined. Alterations in gene CN may provide a fast way of acquiring diversity, allowing rapid adaptation under strong selective pressures, and may also be a key component of standing genetic variation within species. Cannabis sativa plants produce a distinguishing set of secondary metabolites, the cannabinoids, many of which have medicinal utility. Two major cannabinoids-THCA (delta-9-tetrahydrocannabinolic acid) and CBDA (cannabidiolic acid)-are products of a three-step biochemical pathway. Using whole-genome shotgun sequence data for 69 Cannabis cultivars from diverse lineages within the species, we found that genes encoding the synthases in this pathway vary in CN. Transcriptome sequence data show that the cannabinoid paralogs are differentially expressed among lineages within the species. We also found that CN partially explains variation in cannabinoid content levels among Cannabis plants. Our results demonstrate that biosynthetic genes found at multiple points in the pathway could be useful for breeding purposes, and suggest that natural and artificial selection have shaped CN variation. Truncations in specific paralogs are associated with lack of production of particular cannabinoids, showing how phytochemical diversity can evolve through a complex combination of processes.

16.
BMC Med Genet ; 9: 1, 2008 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-18179706

RESUMO

BACKGROUND: Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings. However, three studies indicate that the complement C4B gene null allele (i.e. the missing or nonfunctional C4B gene) is significantly more frequent in individuals with autism. Due to the close proximity of the CYP21A2 gene to the C4B locus (3 kb) it was decided to examine samples from autistic subjects, including many with known C4B null alleles for common CYP21A2 mutations. METHODS: Samples from subjects diagnosed with autism and non-autistic controls (controls) previously typed for C4B null alleles were studied. Allele specific polymerase chain reaction (PCR) methods were used to determine 8 of the most common CYP21A2 genetic mutations, known to completely or partially inhibit 21-hydroxylase, the enzyme encoded by the CYP21A2 gene. RESULTS: Although the combined autism and control study subjects had 50 C4B null alleles only 15 CYP21A2 mutations were detected in over 2250 genotypes. Eight mutations were detected in the autistic samples and 7 in the controls. The frequency of CYP21A2 mutations was similar between the autism and control samples. Only one individual (autistic) carried a chromosome containing both C4B null allele and CYP21A2 mutations.


Assuntos
Alelos , Transtorno Autístico/genética , Complemento C4b/genética , Predisposição Genética para Doença , Polimorfismo Genético , Esteroide 21-Hidroxilase/genética , Transtorno Autístico/diagnóstico , Transtorno Autístico/enzimologia , Estudos de Casos e Controles , Complemento C4b/deficiência , Feminino , Ligação Genética , Genótipo , Humanos , Masculino , Deleção de Sequência
17.
J Chromatogr B Analyt Technol Biomed Life Sci ; 1061-1062: 438-444, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28820982

RESUMO

Pre-analytical treatment of blood plasma is a time consuming and often rate limiting step in the workflow of LC/MS analysis. We present in this pilot study a new approach for quantitative LC/MS based on weak affinity chromatography (WAC) of crude plasma. The steroid hormone cortisol was selected as a clinically relevant biomarker, as it currently requires extensive pre-analytical preparation. A WAC unit with saturating, immobilized albumin as a prototypic weak binder was used in combination with an ion-funnel MS/MS detector to perform zonal affinity chromatography of cortisol directly from a plasma sample, followed by quantitative multiple reaction monitoring (MRM). This procedure also allowed us to determine the amount of bioavailable cortisol in the clinical plasma sample which is of significant therapeutic interest. This WAC-MS approach showed an excellent correlation (R2=0.86 (P<0.0001 (highly significant); n=60) with a state-of-the-art, clinical competitive immunoassay procedure for plasma cortisol analysis. With integration of WAC into LC/MS workflow, it may be possible to both accelerate and improve assay performance by eliminating the sample extraction step. Preliminary data with other steroid hormones indicate that WAC-MS can be applied to various biomolecules using a plasma transport protein such as albumin.


Assuntos
Cromatografia de Afinidade/métodos , Cromatografia Líquida/métodos , Hidrocortisona/sangue , Espectrometria de Massas em Tandem/métodos , Disponibilidade Biológica , Humanos , Hidrocortisona/metabolismo , Modelos Lineares , Projetos Piloto , Sensibilidade e Especificidade
18.
G3 (Bethesda) ; 7(4): 1287-1299, 2017 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-28235828

RESUMO

Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with differential genetic susceptibility. Organohalogen congeners measured in maternal midpregnancy blood samples have recently shown significant, but negative associations with offspring ASD outcome. We report the first large-scale maternal and fetal genetic study of the midpregnancy serum levels of a set of 21 organohalogens in a subset of 790 genotyped women and 764 children collected in California by the Early Markers for Autism (EMA) Project. Levels of PCB (polychlorinated biphenyl) and PBDE (polybrominated diphenyl ether) congeners showed high maternal and fetal estimated SNP-based heritability (h2g ) accounting for 39-99% of the total variance. Genome-wide association analyses identified significant maternal loci for p,p'-DDE (P = 7.8 × 10-11) in the CYP2B6 gene and for BDE-28 (P = 3.2 × 10-8) near the SH3GL2 gene, both involved in xenobiotic and lipid metabolism. Fetal genetic loci contributed to the levels of BDE-100 (P = 4.6 × 10-8) and PCB187 (P = 2.8 × 10-8), near the potential metabolic genes LOXHD1 and PTPRD, previously implicated in neurodevelopment. Negative associations were observed for BDE-100, BDE153, and the sum of PBDEs with ASD, partly explained by genome-wide additive genetic effects that predicted PBDE levels. Our results support genetic control of midgestational biomarkers for environmental exposures by nonoverlapping maternal and fetal genetic determinants, suggesting that future studies of environmental risk factors should take genetic variation into consideration. The independent influence of fetal genetics supports previous hypotheses that fetal genotypes expressed in placenta can influence maternal physiology and the transplacental transfer of organohalogens.


Assuntos
Poluentes Ambientais/sangue , Feto/metabolismo , Exposição Materna , Transtorno do Espectro Autista/sangue , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Humanos , Recém-Nascido , Padrões de Herança/genética , Modelos Lineares , Desequilíbrio de Ligação/genética , Polimorfismo de Nucleotídeo Único/genética , Gravidez
19.
Sci Rep ; 7: 46528, 2017 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-28422145

RESUMO

As the most widely used illicit drug worldwide, and as a source of numerous under-studied pharmacologically-active compounds, a precise understanding of variability in psychological and physiological effects of Cannabis varieties is essential. The National Institute on Drug Abuse (NIDA) is designated as the sole legal producer of Cannabis for use in US research studies. We sought to compare the chemical profiles of Cannabis varieties that are available to consumers in states that have state-legalized use versus what is available to researchers interested in studying the plant and its effects. Our results demonstrate that the federally-produced Cannabis has significantly less variety and lower concentrations of cannabinoids than are observed in state-legal U.S. dispensaries. Most dramatically, NIDA's varieties contain only 27% of the THC levels and as much as 11-23 times the Cannabinol (CBN) content compared to what is available in the state-legal markets. Research restricted to using the current range of federally-produced Cannabis thus may yield limited insights into the chemical, biological and pharmacological properties, and medical potential of material that is available in the state markets. Investigation is urgently needed on the full diversity of Cannabis chemotypes known to be available to the public.


Assuntos
Canabinoides/análise , Cannabis/química , Maconha Medicinal/química , Canabinoides/química , Cannabis/crescimento & desenvolvimento , Estados Unidos
20.
Rev. peru. biol. (Impr.) ; 29(4)oct. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1424297

RESUMO

La presente comunicación proporciona información de la presencia en Perú de dos especies invasoras del género Ceratium: C. hirundinella (O.F. Müller) Dujardin y C. furcoides (Levander) Langhans. Se brinda información sobre la distribución de ambas especies en cuerpos de agua peruanos, así como datos de sus abundancias.


This works provides information on the presence in Peru of two invasive species of the genus Ceratium: C. hirundinella (O.F. Müller) Dujardin and C. furcoides (Levander) Langhans. Information is provided on the distribution of both species in Peruvian water bodies, as well as data on their abundance.

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