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1.
J Nurs Manag ; 2022 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-36205220

RESUMEN

AIM: The aim was to evaluate the feasibility of protective measures for infants of low-income SARS-CoV-2 positive breastfeeding mothers. BACKGROUND: Breastfeeding mothers with SARS-CoV-2 positive should avoid exposing the infant through protective measures (PM), but it could be challenging in a low-income population. METHODS: A prospective, multicenter study was conducted between July and October 2020 (BRACOVID). The participants were recruited at birth and interviewed through a structured questionnaire at seven and 14 days in the home environment. The feasibility of PM during breastfeeding at home was defined by guidelines recommendations (mask using, handwashing, and distancing from newborn when not breastfeeding). Three groups according to the feasibility of guidelines: complete guidelines feasibility (CG): all PM; partial guidelines feasibility (PG): at least one PM feasible; no guidelines (NG): infeasibility to all of PM. Flu-like neonatal symptoms, mothers' breastfeeding practices. We evaluated the association between PM feasibility and socioeconomic factors. RESULTS: 117 infected mothers from 17 Brazilian hospitals were enrolled. 47 (40%) mothers followed all recommendations, 14 (11.9%) could not practice at least one recommendation, and 50 (42.7%) did not execute any of them. The breastfeeding rate was 98%. Factors associated with infeasibility were monthly family income < 92.7 dollars/person, high housing density (>1 inhabitant/room), teenage mothers, responsive feeding, and poor schooling. Regarding infants' flu-like symptoms, 5% presented symptoms at fourteen days (NG group). CONCLUSION: The guidelines were not applied to infants of SARs-CoV-positive mothers in 54.6% of the dyads since the recommendations were unviable in their environments. During pandemics, we should look for feasible and effective guidelines to protect neonates from low-income populations. IMPLICATIONS FOR NURSING MANAGEMENT: Poor socioeconomic conditions lead to the unfeasibility of protective measures for infants of low-income SARS-CoV-2 positive breastfeeding mothers during the isolation period in the pandemics. The orientations and the support provided to dyad should consider the socioeconomic factors to guide feasible measures in the home environment and promote adequate protections; only an individual approach will allow a safe environment for low-income infants.

2.
Hepatol Commun ; 6(2): 270-280, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34520633

RESUMEN

Liver test abnormalities are frequently observed in patients with coronavirus disease 2019 (COVID-19) and are associated with worse prognosis. However, information is limited about pathological changes in the liver in this infection, so the mechanism of liver injury is unclear. Here we describe liver histopathology and clinical correlates of 27 patients who died of COVID-19 in Manaus, Brazil. There was a high prevalence of liver injury (elevated alanine aminotransferase and aspartate aminotransferase in 44% and 48% of patients, respectively) in these patients. Histological analysis showed sinusoidal congestion and ischemic necrosis in more than 85% of the cases, but these appeared to be secondary to systemic rather than intrahepatic thrombotic events, as only 14% and 22% of samples were positive for CD61 (marker of platelet activation) and C4d (activated complement factor), respectively. Furthermore, the extent of these vascular findings did not correlate with the extent of transaminase elevations. Steatosis was present in 63% of patients, and portal inflammation was present in 52%. In most cases, hepatocytes expressed angiotensin-converting enzyme 2 (ACE2), which is responsible for binding and entry of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), even though this ectoenzyme was minimally expressed on hepatocytes in normal controls. However, SARS-CoV-2 staining was not observed. Most hepatocytes also expressed inositol 1,4,5-triphosphate receptor 3 (ITPR3), a calcium channel that becomes expressed in acute liver injury. Conclusion: The hepatocellular injury that commonly occurs in patients with severe COVID-19 is not due to the vascular events that contribute to pulmonary or cardiac damage. However, new expression of ACE2 and ITPR3 with concomitant inflammation and steatosis suggests that liver injury may result from inflammation, metabolic abnormalities, and perhaps direct viral injury.


Asunto(s)
COVID-19/complicaciones , Hepatopatías/patología , Hepatopatías/virología , Hígado/patología , Hígado/virología , Adulto , Anciano , Anciano de 80 o más Años , Brasil , COVID-19/mortalidad , COVID-19/patología , COVID-19/fisiopatología , Femenino , Humanos , Hígado/fisiopatología , Hepatopatías/diagnóstico , Hepatopatías/fisiopatología , Pruebas de Función Hepática , Masculino , Persona de Mediana Edad
3.
Front Physiol ; 13: 1080837, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36601349

RESUMEN

Patients infected by the SARS-CoV-2 virus are commonly diagnosed with threatening liver conditions associated with drug-induced therapies and systemic viral action. RNA-Seq data from cells in bronchoalveolar lavage fluid from COVID-19 patients have pointed out dysregulation of kallikrein-kinin and renin-angiotensin systems as a possible mechanism that triggers multi-organ damage away from the leading site of virus infection. Therefore, we measured the plasma concentration of biologically active peptides from the kallikrein-kinin system, bradykinin and des-Arg9-bradykinin, and liver expression of its proinflammatory axis, bradykinin 1 receptor (B1R). We measured the plasma concentration of bradykinin and des-Arg9-bradykinin of 20 virologically confirmed COVID-19 patients using a liquid chromatography-tandem mass spectrometry-based methodology. The expression of B1R was evaluated by immunohistochemistry from post-mortem liver specimens of 27 COVID-19 individuals. We found a significantly higher blood level of des-Arg9-bradykinin and a lower bradykinin concentration in patients with COVID-19 compared to a healthy, uninfected control group. We also observed increased B1R expression levels in hepatic tissues of patients with COVID-19 under all hepatic injuries analyzed (liver congestion, portal vein dilation, steatosis, and ischemic necrosis). Our data indicate that des-Arg9-bradykinin/B1R is associated with the acute hepatic dysfunction induced by the SARS-CoV-2 virus infection in the pathogenesis of COVID-19.

4.
PLoS One ; 16(9): e0255950, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34506501

RESUMEN

SARS-CoV-2 affects mainly the lungs, however, other manifestations, including neurological manifestations, have also been described during the disease. Some of the neurological findings have involved intracerebral or subarachnoid hemorrhage, strokes, and other thrombotic/hemorrhagic conditions. Nevertheless, the gross pathology of hemorrhagic lesions in the central nervous system has not been previously described in Brazilian autopsy cases. This study aimed to describe gross and microscopic central nervous system (CNS) pathology findings from the autopsies and correlate them with the clinical and laboratory characteristics of forty-five patients with COVID-19 from Manaus, Amazonas, Brazil. Forty-four patients were autopsied of which thirty-eight of these (86.36%) were positive by RT-PCR for COVID-19, and six (13.3%) were positive by the serological rapid test. Clinical and radiological findings were compatible with the infection. The patients were classified in two groups: presence (those who had hemorrhagic and/or thrombotic manifestations in the CNS) and absence (those who did not present hemorrhagic and/or thrombotic manifestations in the CNS). For risk assessment, relative risk and respective confidence intervals were estimated. Macroscopic or microscopic hemorrhages were found in twenty-three cases (52,27%). The postmortem gross examination of the brain revealed a broad spectrum of hemorrhages, from spots to large and confluent areas and, under microscopy, we observed mainly perivascular discharge. The association analyses showed that the use of corticosteroid, anticoagulant and antibiotic had no statistical significance with a risk of nervous system hemorrhagic manifestations. However, it is possible to infer a statistical tendency that indicates that individuals with diabetes had a higher risk for the same outcome (RR = 1.320, 95% CI = 0.7375 to 2.416, p = 0.3743), which was not observed in relation to other comorbidities. It is unknown whether the new variants of the virus can cause different clinical manifestations, such as those observed or indeed others. As a result, more studies are necessary to define clinical and radiologic monitoring protocols and strategic interventions for patients at risk of adverse and fatal events, such as the extensive hemorrhaging described here. It is imperative that clinicians must be aware of comorbidities and the drugs used to treat patients with COVID-19 to prevent CNS hemorrhagic and thrombotic events.


Asunto(s)
COVID-19/epidemiología , Sistema Nervioso Central/patología , Hemorragia/epidemiología , Trombosis/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Brasil/epidemiología , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
5.
Int Breastfeed J ; 16(1): 30, 2021 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-33789708

RESUMEN

BACKGROUND: The World Health Organization recognizes exclusive breastfeeding a safe source of nutrition available for children in most humanitarian emergencies, as in the current pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Despite the Brazilian national guideline protecting breastfeeding practices, there are many concerns about protecting infants from their infected mothers. This study aimed to analyze how the Brazilian hospitals and maternity services promote and support mothers suspected or diagnosed with coronavirus disease (COVID-19). METHODS: This is a descriptive cross-sectional and multicenter study which collected data from 24 Brazilian hospitals and maternity services between March and July 2020. Representatives of the institutions completed a questionnaire based on acts to promote and support breastfeeding, the Baby-Friendly Hospital Initiative, and Brazil's federal law recommendations. RESULTS: The results showed that in delivery rooms, 98.5% of the services prohibited immediate and uninterrupted skin-to-skin contact between mothers and their infants and did not support mothers to initiate breastfeeding in the first hour. On the postnatal ward, 98.5% of the services allowed breastfeeding while implementing respiratory hygiene practices to prevent transmission of COVID-19. Companions for mothers were forbidden in 83.3% of the hospitals. Hospital discharge was mostly between 24 and 28 h (79.1%); discharge guidelines were not individualized. Additionally, a lack of support was noticed from the home environment's health community network (83.3%). Hospital and home breast pumping were allowed (87.5%), but breast milk donation was not accepted (95.8%). There was a lack of guidance regarding the use of infant comforting strategies. Guidelines specific for vulnerable populations were not covered in the material evaluated. CONCLUSIONS: In Brazil, hospitals have not followed recommendations to protect, promote, and support breastfeeding during the COVID-19 outbreak. The disagreement between international guidelines has been a major issue. The absence of recommendations on breastfeeding support during the pandemic led to difficulties in developing standards among hospitals in different regions of Brazil and other countries worldwide. The scientific community needs to discuss how to improve maternal and infant care services to protect breastfeeding in the current pandemic.


Asunto(s)
Lactancia Materna , COVID-19/prevención & control , Adhesión a Directriz , Higiene , Brasil/epidemiología , Lactancia Materna/efectos adversos , COVID-19/epidemiología , COVID-19/etiología , Estudios Transversales , Brotes de Enfermedades/prevención & control , Femenino , Adhesión a Directriz/estadística & datos numéricos , Hospitales , Humanos , Servicios de Salud Materna , Pandemias , Embarazo , Encuestas y Cuestionarios
6.
Rev Soc Bras Med Trop ; 54: e0850, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33886821

RESUMEN

INTRODUCTION: Electron microscopy (EM) is a rapid and effective tool that can be used to create images of a whole spectrum of virus-host interactions and, as such, has long been used in the discovery and description of viral mechanisms. METHODS: Electron microscopy was used to evaluate the pulmonary pathologies of postmortem lung sections from three patients who died from infection with SARS-associated coronavirus 2 (SARS-CoV-2), a new member of the Coronaviridae family. RESULTS: Diffuse alveolar damage (DAD) was predominant in all three patients. The early exudative stage was characterized principally by edema and extravasation of red blood cells into the alveolar space with injury to the alveolar epithelial cells; this was followed by detachment, apoptosis, and necrosis of type I and II pneumocytes. The capillaries exhibited congestion, exposure of the basement membrane from denuded endothelial cells, platelet adhesion, fibrin thrombi, and rupture of the capillary walls. The proliferative stage was characterized by pronounced proliferation of type II alveolar pneumocytes and multinucleated giant cells. The cytopathic effect of SARS-CoV-2 was observed both in degenerated type II pneumocytes and freely circulating in the alveoli, with components from virions, macrophages, lymphocytes, and cellular debris. CONCLUSIONS: Viral particles consistent with the characteristics of SARS-CoV-2 were observed mainly in degenerated pneumocytes, in the endothelium, or freely circulating in the alveoli. In the final stage of illness, the alveolar spaces were replaced by fibrosis.


Asunto(s)
COVID-19 , SARS-CoV-2 , Brasil , Células Endoteliales , Humanos , Pulmón , Microscopía Electrónica de Transmisión
7.
Rev. Soc. Bras. Med. Trop ; 54: e08502021, 2021. graf
Artículo en Inglés | LILACS | ID: biblio-1288094

RESUMEN

Abstract INTRODUCTION: Electron microscopy (EM) is a rapid and effective tool that can be used to create images of a whole spectrum of virus-host interactions and, as such, has long been used in the discovery and description of viral mechanisms. METHODS: Electron microscopy was used to evaluate the pulmonary pathologies of postmortem lung sections from three patients who died from infection with SARS-associated coronavirus 2 (SARS-CoV-2), a new member of the Coronaviridae family. RESULTS: Diffuse alveolar damage (DAD) was predominant in all three patients. The early exudative stage was characterized principally by edema and extravasation of red blood cells into the alveolar space with injury to the alveolar epithelial cells; this was followed by detachment, apoptosis, and necrosis of type I and II pneumocytes. The capillaries exhibited congestion, exposure of the basement membrane from denuded endothelial cells, platelet adhesion, fibrin thrombi, and rupture of the capillary walls. The proliferative stage was characterized by pronounced proliferation of type II alveolar pneumocytes and multinucleated giant cells. The cytopathic effect of SARS-CoV-2 was observed both in degenerated type II pneumocytes and freely circulating in the alveoli, with components from virions, macrophages, lymphocytes, and cellular debris. CONCLUSIONS: Viral particles consistent with the characteristics of SARS-CoV-2 were observed mainly in degenerated pneumocytes, in the endothelium, or freely circulating in the alveoli. In the final stage of illness, the alveolar spaces were replaced by fibrosis.


Asunto(s)
Brasil , SARS-CoV-2 , Células Endoteliales , Microscopía Electrónica de Transmisión , COVID-19 , Pulmón
8.
J Neurol Neurosurg Psychiatry ; 91(5): 512-519, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32213570

RESUMEN

Visual hallucinations are common in older people and are especially associated with ophthalmological and neurological disorders, including dementia and Parkinson's disease. Uncertainties remain whether there is a single underlying mechanism for visual hallucinations or they have different disease-dependent causes. However, irrespective of mechanism, visual hallucinations are difficult to treat. The National Institute for Health Research (NIHR) funded a research programme to investigate visual hallucinations in the key and high burden areas of eye disease, dementia and Parkinson's disease, culminating in a workshop to develop a unified framework for their clinical management. Here we summarise the evidence base, current practice and consensus guidelines that emerged from the workshop.Irrespective of clinical condition, case ascertainment strategies are required to overcome reporting stigma. Once hallucinations are identified, physical, cognitive and ophthalmological health should be reviewed, with education and self-help techniques provided. Not all hallucinations require intervention but for those that are clinically significant, current evidence supports pharmacological modification of cholinergic, GABAergic, serotonergic or dopaminergic systems, or reduction of cortical excitability. A broad treatment perspective is needed, including carer support. Despite their frequency and clinical significance, there is a paucity of randomised, placebo-controlled clinical trial evidence where the primary outcome is an improvement in visual hallucinations. Key areas for future research include the development of valid and reliable assessment tools for use in mechanistic studies and clinical trials, transdiagnostic studies of shared and distinct mechanisms and when and how to treat visual hallucinations.


Asunto(s)
Oftalmopatías/complicaciones , Alucinaciones/etiología , Enfermedades del Sistema Nervioso/complicaciones , Demencia/complicaciones , Demencia/fisiopatología , Demencia/terapia , Oftalmopatías/fisiopatología , Oftalmopatías/terapia , Alucinaciones/fisiopatología , Alucinaciones/terapia , Humanos , Enfermedades del Sistema Nervioso/fisiopatología , Enfermedades del Sistema Nervioso/terapia , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/fisiopatología , Enfermedad de Parkinson/terapia
9.
Int J Geriatr Psychiatry ; 33(10): 1327-1334, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29953689

RESUMEN

OBJECTIVES: Visual hallucinations (VHs) can occur in several clinical conditions, of which the dementias, broadly defined, and Parkinson's disease rank among the most common. There is limited research on the lived experience of hallucinations among affected individuals and therefore a lack of evidence-based management strategies. This study used qualitative methods to explore the VH experience of individuals with dementia or Parkinson's disease and their informal caregivers. METHODS: In-depth interviews were conducted with 10 individuals with VHs and dementia and 11 informal caregivers, and 11 individuals with VHs and Parkinson's disease and 9 informal caregivers. Interviews were analysed using an inductive thematic approach. RESULTS: Three themes emerged from the data: "Insight and distress," "Caregiver approach: challenging v reassurance," and "Normality and stigma." Insight appeared to affect whether hallucinations were perceived as threatening and whether acceptance occurred over time. Emotional reactions and management strategies varied as insight changed with disease progression. Concerns around stigmatisation negatively influenced help-seeking and acceptance of the hallucinations. CONCLUSIONS: Degree of insight and cognitive ability appear fundamental to the lived experience of hallucinations. Irrespective of the clinical context, support in early stages should focus on raising awareness of VH, symptom disclosure, stigma reduction, and contact with others affected. In later stages, the focus shifts to informal caregiver needs and a flexible approach to reassuring those affected.


Asunto(s)
Cuidadores/psicología , Demencia/complicaciones , Alucinaciones/psicología , Enfermedad de Parkinson/complicaciones , Anciano , Anciano de 80 o más Años , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Investigación Cualitativa , Calidad de Vida , Estereotipo , Estrés Psicológico/etiología
10.
Mastology (Impr.) ; 27(3): 220-224, jul.-set.2017.
Artículo en Inglés | LILACS | ID: biblio-884225

RESUMEN

Objectives: To identify the association of alcohol consumption with the development of breast cancer in a patient population of Salvador, Bahia. Methods: Case-control study, conducted between December 2013 and May 2015, with 69 patients with breast ductal carcinoma and 71 controls. Sample calculation was made with 140 patients, with 5% presumed difference between groups and 10% acceptable difference. The χ2 test was used to evaluate the correlation between categorical variables, and Student's t-test was applied to compare continuous variables. Results: From all cases, medium alcohol intake was 3.66±8.60 g/day; among controls, the average was 3.71±7.40 g/day (p=0.890). When analyzing the association between alcohol intake and breast cancer, odds ratio was 0.99 (95% confidence interval 0.524­1.890), p=0.988. For alcohol consumption greater than 10 g/day and breast cancer, odds ratio was 1.579 (95%CI 0.624­3.995), p=0.332. Conclusions: Although published data suggest an association between alcohol consumption and breast cancer, in this study there was no statistical significance between the variables assessed and the onset of this pathology.


Objetivo: Identificar a associação do consumo alcoólico com o desenvolvimento de câncer de mama em uma população de pacientes de Salvador, Bahia. Métodos: Estudo de caso-controle realizado entre dezembro de 2013 e maio de 2015 com 69 pacientes com diagnóstico de carcinoma ductal da mama e 71 controles. Foi realizado cálculo amostral com 140 pacientes, esperando-se uma diferença presumida de 5% entre os grupos e com diferença aceitável de 10%. Realizou-se teste do χ2 para avaliação de correlação entre as variáveis categóricas e teste t de Student entre as variáveis contínuas. Resultados: Entre os casos, a ingesta alcoólica média foi de 3,66±8,60 g/dia; já entre os controles a média foi de 3,71±7,40 g/dia (p=0,890). Ao analisar-se a associação entre ingesta alcoólica e câncer de mama, obtivemos odds ratio de 0,99 (intervalo de confiança de 95% ­ IC95% 0,524­1,890), p=0,988. Em relação ao consumo de álcool maior do que 10 g/dia e câncer de mama, a odds ratio foi de 1,579 (IC95% 0,624­3,995), p=0,332. Conclusão: Apesar de dados publicados e hipóteses sugerirem associação entre ingesta alcoólica e câncer de mama, neste estudo não houve significância estatística entre as variáveis analisadas e a presença da patologia.

11.
Am J Med Genet B Neuropsychiatr Genet ; 171(7): 982-92, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27230021

RESUMEN

Family and twin studies have identified endophenotypes that capture familial and genetic risk in attention-deficit/hyperactivity disorder (ADHD), but it remains unclear if they lie on the causal pathway. Here, we illustrate a stepwise approach to identifying intermediate phenotypes. First, we use previous quantitative genetic findings to delineate the expected pattern of genetically correlated phenotypes. Second, we identify overlapping genetic associations with ADHD-related quantitative traits. Finally, we test for the mediating role of associated endophenotypes. We applied this approach to a sample of 1,312 twins aged 7-10. Based on previous twin model-fitting analyses, we selected hyperactivity-impulsivity, inattention, reading difficulties (RD), reaction time variability (RTV) and commission errors (CE), and tested for association with selected ADHD risk alleles. For nominally significant associations with both a symptom and a cognitive variable, matching the expected pattern based on previous genetic correlations, we performed mediation analysis to distinguish pleiotropic from mediating effects. The strongest association was observed for the rs7984966 SNP in the serotonin receptor gene (HTR2A), and RTV (P = 0.007; unadjusted for multiple testing). Mediation analysis suggested that CE (38%) and RTV (44%) substantially mediated the association between inattention and the T-allele of SNP rs3785157 in the norepinephrine transporter gene (SLC6A2) and the T-allele of SNP rs7984966 in HTR2A, respectively. The SNPs tag risk-haplotypes but are not thought to be functionally significant. While these exploratory findings are preliminary, requiring replication, this study demonstrates the value of this approach that can be adapted to the investigation of multiple genetic markers and polygenic risk scores. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Estudios de Asociación Genética/métodos , Estadística como Asunto/métodos , Alelos , Niño , Bases de Datos Factuales , Endofenotipos , Femenino , Marcadores Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Haplotipos , Humanos , Masculino , Proteínas de Transporte de Noradrenalina a través de la Membrana Plasmática/genética , Polimorfismo de Nucleótido Simple/genética , Gemelos/genética
12.
J Neural Transm (Vienna) ; 123(8): 991-1000, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27106905

RESUMEN

Attention-deficit/hyperactivity disorder (ADHD) has been linked to dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, indexed by salivary cortisol. The phenotypic and aetiological association of cortisol productivity with ADHD was investigated. A selected twin design using 68 male twin-pairs aged 12-15, concordant or discordant for high ADHD symptom scores, or control twin-pairs with low ADHD symptoms, based on developmentally stable parental ADHD ratings. A genetic growth curve model was applied to cortisol samples obtained across three points during a cognitive-electroencephalography assessment, to examine the aetiological overlap of ADHD affection status (high versus low ADHD symptom scores) with latent intercept and slope factors. A significant phenotypic correlation emerged between ADHD and the slope factor, with cortisol levels dropping faster for the group with high ADHD symptom scores. The analyses further suggested this overlap was mostly driven by correlated genetic effects. We identified change in cortisol activity over time as significantly associated with ADHD affection status, primarily explained by shared genetic effects, suggesting that blunted cortisol productivity can be a marker of genetic risk in ADHD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Trastornos del Conocimiento/etiología , Potenciales Evocados/genética , Hidrocortisona/metabolismo , Saliva/metabolismo , Adolescente , Factores de Edad , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/genética , Señales (Psicología) , Electroencefalografía , Potenciales Evocados/fisiología , Humanos , Masculino , Pruebas Neuropsicológicas , Estimulación Luminosa , Escalas de Valoración Psiquiátrica
13.
Am J Med Genet B Neuropsychiatr Genet ; 171(7): 938-47, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-26919823

RESUMEN

Chronic tic disorders (TD), attention-deficit/hyperactivity-disorder (ADHD), and obsessive-compulsive disorder (OCD) frequently co-occur in clinical and epidemiological samples. Family studies have found evidence of shared familial transmission between TD and OCD, whereas the familial association between these disorders and ADHD is less clear. This study aimed to investigate to what extent liability of tics, attention-deficit/hyperactivity, and obsessive-compulsive symptoms is caused by shared or distinct genetic or environmental influences, in a large population-representative sample of Swedish adult twins (n = 21,911). Tics, attention-deficit/hyperactivity, and obsessive-compulsive symptoms showed modest, but significant covariation. Model fitting suggested a latent liability factor underlying the three phenotypes. This common factor was relatively heritable, and explained significantly less of the variance of attention-deficit/hyperactivity symptom liability. The majority of genetic variance was specific rather than shared. The greatest proportion of total variance in liability of tics, attention-deficit/hyperactivity, and obsessive-compulsive symptoms was attributed to specific non-shared environmental influences. Our findings suggest that the co-occurrence of tics and obsessive-compulsive symptoms, and to a lesser extent attention-deficit/hyperactivity symptoms, can be partly explained by shared etiological influences. However, these phenotypes do not appear to be alternative expressions of the same underlying genetic liability. Further research examining sub-dimensions of these phenotypes may serve to further clarify the association between these disorders and identify more genetically homogenous symptom subtypes. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno Obsesivo Compulsivo/genética , Trastornos de Tic/genética , Adulto , Trastorno por Déficit de Atención con Hiperactividad/etiología , Comorbilidad , Femenino , Variación Genética/genética , Humanos , Masculino , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/etiología , Trastorno Obsesivo Compulsivo/psicología , Suecia , Trastornos de Tic/etiología , Trastornos de Tic/psicología , Tics/etiología , Tics/genética , Gemelos
14.
J Abnorm Child Psychol ; 44(2): 335-45, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26021462

RESUMEN

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs) frequently co-occur. However, due to previous exclusionary diagnostic criteria, little is known about the underlying causes of this covariation. Twin studies assessing ADHD symptoms and autistic-like traits (ALTs) suggest substantial genetic overlap, but have largely failed to take into account the genetic heterogeneity of symptom subscales. This study aimed to clarify the phenotypic and genetic relations between ADHD and ASD by distinguishing between symptom subscales that characterise the two disorders. Moreover, we aimed to investigate whether ADHD-related cognitive impairments show a relationship with ALT symptom subscales; and whether potential shared cognitive impairments underlie the genetic risk shared between the ADHD and ALT symptoms. Multivariate structural equation modelling was conducted on a population-based sample of 1312 twins aged 7-10. Social-communication ALTs correlated moderately with both ADHD symptom domains (phenotypic correlations around 0.30) and showed substantial genetic overlap with both inattention and hyperactivity-impulsivity (genetic correlation = 0.52 and 0.44, respectively). In addition to previously reported associations with ADHD traits, reaction time variability (RTV) showed significant phenotypic (0.18) and genetic (0.32) association with social-communication ALTs. RTV captured a significant proportion (24 %) of the genetic influences shared between inattention and social-communication ALTs. Our findings suggest that social-communication ALTs underlie the previously observed phenotypic and genetic covariation between ALTs and ADHD symptoms. RTV is not specific to ADHD symptoms, but is also associated with social-communication ALTs and can, in part, contribute to an explanation of the co-occurrence of ASD and ADHD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/genética , Disfunción Cognitiva/epidemiología , Disfunción Cognitiva/genética , Niño , Comorbilidad , Enfermedades en Gemelos , Femenino , Humanos , Londres/epidemiología , Masculino , Fenotipo
15.
Rev. bras. mastologia ; 25(1): 3-7, jan-mar 2015. tab
Artículo en Portugués | LILACS-Express | LILACS | ID: lil-782269

RESUMEN

Objetivo: Avaliar a acurácia do modelo de Gail em mulheres baianas. Métodos: Estudo de casocontrole, com 64 casos e 64 controles. Este estudo foi conduzido em duas clínicas de Salvador, Bahia, que atendem pacientes conveniados aos planos de saúde: o Núcleo de Oncologia da Bahia e o Núcleo da Mama. Foram calculados dois valores do índice de Gail para cada paciente, com etnia referida e com etnia desconhecida. Os valores encontrados foram comparados entre os grupos caso e controle, comanálise de significância pelo teste t de Student. Também foi calculado qual o percentual de pacientes do grupo caso que apresentavam alto (?1,67%) e baixo risco (<1,67%). Resultados: As  médias dos valores do índice de Gail do grupo controle foram superiores às médias dos valores nos casos,independente de qual risco foi avaliado (em cinco anos ou ?life-time?) e da etnia utilizada (autoreferida ou desconhecida). Quando utilizada a etnia auto-referida, apenas 26,7% das pacientes com câncer de mama teriam sido identificadas como alto risco pelo modelo, e, quando utilizada a etniadesconhecida, apenas 34,7%. Conclusão: Na presente amostra com mulheres baianas, o modelo de Gail não foi um bom preditor para o desenvolvimento de câncer de mama.


Purpose: To evaluate the accuracy of Gail model applied to women from Bahia. Methods: It is a casecontrol study, with 64 cases and 64 controls. This study was lead in two clinics in Salvador, Bahia, Brazil, that attend patients with health insurance: Núcleo de Oncologia da Bahia and Núcleo da Mama. Two values of Gail model were calculated for each patient, one using self-reported ethnicity and other using ethnicity as unknown. The values were compared between case and control groups, using significance analysis by Student t test. It was also calculated which percentage of patients in case group were at high-risk (?1.67%) or low risk (<1.67). Results: The mean values of the Gail model was higher in the control group than the mean values in the case group, regardless of which risk was assessed (in five years or life-time) and of ethnicity was used (self-reported or unknown). When used the self-reported ethnicity for calculation, only 26.7% of women with breast cancer would have been identified as high-risk by the Gail model, and when used unknown ethnicity, only 34.7% of these would have been identified. Conclusion: In the present sample, the Gail model was nota good predictor for the development of breast cancer in womens from Bahia.

16.
Rev. bras. mastologia ; 24(4): 98-102, out-dez 2014. graf
Artículo en Portugués | LILACS-Express | LILACS | ID: lil-782263

RESUMEN

Objetivo: Avaliar o perfil dos subtipos moleculares do câncer de mama em uma população de pacientes de duas clínicas privadas de Salvador, Bahia: o Núcleo da Mama e o Núcleo de Oncologia da Bahia. Metodologia: Estudo de corte transversal que incluiu pacientes do sexo feminino com diagnóstico aná- tomo-patológico de carcinoma invasivo sem tipo especial (ductal invasor). Foram excluídas as pacientes com história de câncer prévio, exceto câncer de pele não melanoma; com dados clínicos anteriores ao tratamento sistêmico indisponíveis e sem laudo de imuno-histoquímica. Foi realizada classificação do câncer de mama com base no subtipo molecular em quatro padrões principais: luminal A, luminal B, HER2+ e triplo-negativo. Frequências e proporções foram estabelecidas para cada um dos subtipos moleculares. Outros dados clínicos e laboratoriais também foram colhidos para estabelecer o perfil da população estudada. Resultados: Foram recrutadas 59 pacientes entre dezembro de 2012 e maio de 2014, com idade média de 56,9 anos. O subtipo molecular mais comum na amostra foi o luminal B, com 35 casos (59,3%), seguido do luminal A, (11 casos; 18,6%), triplo-negativo (6 casos, 10,2%) e HER2+ (7 casos; 11,9%). Conclusões: Corroborando outros estudos realizados em população brasileira, o subtipo luminal B é o mais comum encontrado nesta amostra de pacientes de Salvador, Bahia. O achado ajuda a confirmar o padrão atípico do país em relação ao descrito na literatura internacional, com importantes implicações terapêuticas e prognósticas.


Objective: The aim of this study is to evaluate breast cancer molecular subtype distribution in a female population of two private centers in Salvador, Bahia, Brazil: Núcleo da Mama e o Núcleo de Oncologia da Bahia. Methodology: This is a cross-sectional study involving female patients with pathological diagnosis of invasive ductal carcinoma not otherwise specified (NOS). Patients with history of previous cancer except non-melanoma skin câncer; clinical data prior to systemic treatment unavailable and those without immunohistochemical report were excluded from the study. Breast cancer classification was based on four main molecular subtype patterns: luminal A, luminal B, HER2 + and triple negative. Frequencies and proportions were established for each of the molecular subtypes. Other clinical and laboratory data were also collected to determine baseline characteristics of the population studied. Results: We recruited 59 patients between December 2012 and May 2014 with an average age of 56.9 years. The most common molecular subtype of the sample was luminal B subtype, with 35 cases (59.3%), followed by luminal A (11 cases; 18.6%), triple negative (6 cases, 10.2%) and HER2+ (7 cases; 11.9%). Conclusions: Similar to other studies with Brazilian population samples, luminal B subtype is the most common in this sample of patients in Salvador, Bahia. The finding helps confirm the atypical pattern of the country in relation to that described in international literature, with important therapeutic and prognostic implications.

17.
Rev. bras. mastologia ; 24(3): 76-81, jul-set 2014. tab
Artículo en Portugués | LILACS-Express | LILACS | ID: lil-782260

RESUMEN

Objetivo: Identificar a associação entre o índice de massa corpórea (IMC) e a ocorrência de câncer de mama em uma população de pacientes de duas clínicas de Salvador (BA). Métodos: Estudo caso-controle no qual foram recrutadas 190 pacientes entre 2012 e 2014, sendo 68 diagnosticadas com carcinoma ductal da mama e 122 controles. Foi realizado cálculo amostralcom n=140 pacientes por meio do programa Winpepi. Dados de peso e altura foram coletados para cálculo do IMC de cada paciente. Com base nos critérios da Organização Mundial de Saúde (OMS), foram classificadas como desnutridas pacientes com IMC <18,5, normais aquelas com IMC ?18,5 e <25,0 kg/m², sobrepeso com ?25 e <30 kg/m², e obesas com ?30 kg/m².Proporções de cada categoria de IMC foram determinadas para casos e controles. Análise estatística incluiu realização de teste do ?2 para avaliação de correlação entre as variáveis categóricas. Resultados: A idade média foi de 56,7±13 anos entre os casos e de 53,1±11,9 anos entre os controles. IMC médio foi de 27,5±4,6 kg/m² entre os casos e de 26,1±4,9 kg/m² entre os controles. A proporção de pacientes normais, sobrepeso e obesas foi de 33,8, 38,2 e 27,9% entre os casos e de 43,4, 43,4 e 13,1% entre os controles, respectivamente. Houve significativamente mais obesas entre os casos do que entre os controles (OR=2,57; IC95% 1,22?5,42; p=0,011),com mulheres na menacme e pós-menopausadas. Conclusão: Os resultados demonstram correlação entre a presença de câncer de mama e o IMC elevado na amostra estudada, o que está condizente com os resultados de outros estudos.


Objective: Identify the association between body mass index (BMI) and breast cancer in a population of patients from two clinics in Salvador (BA). Methods: A case-control study in which 190 patients were recruited between 2012 and 2014, 68 diagnosed with ductal breast carcinoma and 122 controls. Sample calculation was performed with n=140 patients, through Winpepi program. Weight and height data were collected to calculate the body mass index of each patient. Based on the World Health Organization (WHO) criteria were classified as malnourished patients with BMI <18.5, those with normal BMI ?18.5 and <25.0 kg/m², overweight ?25 and <30 kg/m² and obese ?30 kg/m². BMI proportions of each category were determined for cases and controls. Statistical analysis included performing chi-square test to evaluate the correlation between categorical variables. Results: Mean age was 56.7±13 years between cases and 53.1±11.9 years among controls. Mean BMI was 27.5±4.6 kg/m² among cases and 26.1±4.9 kg/m² among controls. The proportion of normal patients, overweight and obese was 33.8, 38.2 and 27.9% in the cases and 43.4, 43.4 and 13.1% among controls, respectively. There were significantly more obese among cases than among controls (OR=2.57, 95%CI 1.22?5.42; p=0.011), with women in premenopausal and post-menopausal. Conclusion: The resultsshow a correlation between the presence of breast cancer and high BMI in this sample, consistent with the results of other studies.

18.
J Abnorm Child Psychol ; 42(1): 127-36, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23839718

RESUMEN

Both shared and unique genetic risk factors underlie the two symptom domains of attention deficit hyperactivity disorder (ADHD): inattention and hyperactivity-impulsivity. The developmental course and relationship to co-occurring disorders differs across the two symptom domains, highlighting the importance of their partially distinct etiologies. Familial cognitive impairment factors have been identified in ADHD, but whether they show specificity in relation to the two ADHD symptom domains remains poorly understood. We aimed to investigate whether different cognitive impairments are genetically linked to the ADHD symptom domains of inattention versus hyperactivity-impulsivity. We conducted multivariate genetic model fitting analyses on ADHD symptom scores and cognitive data, from go/no-go and fast tasks, collected on a population twin sample of 1,312 children aged 7-10. Reaction time variability (RTV) showed substantial genetic overlap with inattention, as observed in an additive genetic correlation of 0.64, compared to an additive genetic correlation of 0.31 with hyperactivity-impulsivity. Commission errors (CE) showed low additive genetic correlations with both hyperactivity-impulsivity and inattention (genetic correlations of 0.17 and 0.11, respectively). The additive genetic correlation between RTV and CE was also low and non-significant at -0.10, consistent with the etiological separation between the two indices of cognitive impairments. Overall, two key cognitive impairments phenotypically associated with ADHD symptoms, captured by RTV and CE, showed different genetic relationships to the two ADHD symptom domains. The findings extend a previous model of two familial cognitive impairment factors in combined subtype ADHD by separating pathways underlying inattention and hyperactivity-impulsivity symptoms.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Atención , Trastornos del Conocimiento , Conducta Impulsiva/psicología , Atención/fisiología , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Niño , Trastornos del Conocimiento/genética , Trastornos del Conocimiento/fisiopatología , Trastornos del Conocimiento/psicología , Comorbilidad , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Análisis Multivariante , Escalas de Valoración Psiquiátrica , Tiempo de Reacción/fisiología , Factores de Riesgo , Gemelos
19.
Rev. bioét. (Impr.) ; 20(3)21.12.2012.
Artículo en Portugués, Inglés | LILACS | ID: lil-664971

RESUMEN

O presente artigo visa analisar os aspectos bioéticos relacionados às recentes práticas de genitoplastia em bebês do sexo feminino na Índia, levando em conta os principais aspectos que influenciam essa prática sob os pontos de vista psicológico, fisiológico, sociocultural e histórico. O método baseou-se na revisão bibliográfica de artigos publicados em base de dados como SciELO e Pubmed e na leitura de livros-texto referentes ao tema. Na discussão, foram analisados aspectos históricos e mitológicos que contribuíram para a construção da posição atual da mulher indiana na sociedade, reunindo conceitos de cultura e aspectos sociais associados ao tema. Entre os argumentos contrários à realização de genitoplastia se destacam os prejuízos à saúde da menina e, sobre tudo, o questionamento ético da atitude de pais e médicos. Mediante a análise de todos esses fatores, concluiu-se que o resultado dessa prática é nocivo à bebê e foram sugeridas medidas para a extinção do procedimento.


Este aroculo tiene como objetivo principal el análisis de los aspectos bioéticos relacionados a las recientes prácticas de Genitoplastia realizadas en bebés del sexo femenino en la India, teniendo en cuenta los princpales aspectos que influencian dicha práctica desde un punto de vista psicológico, fisiológico, sociocultural e histórico. El método utilizado se ha basado en el estudio bibliográfico de aroculos cienoficos sacados de páginas web, tal como SciELO y Pubmed, y en la lectura de libros de texto referentes al tema. En la discusión, se analizaron aspectos históricos y mitológicos que contribuyeron a la construcción de la posición de la mujer india en la sociedad, reuniendo conceptos acerca de la cultura y aspectos sociales relacionados al tema en cuestión. Entre los argumentos en contra de la realización de la Genitoplastia se destacan los daños causados a la salud de la niña y, sobre todo, el cuestionamiento ético de la actitud de los padres y de los médicos. Tras analizarse todos los factores concernientes, se llega a la conclusión de que el resultado de esta práctica es nocivo al bebé y fueron sugeridas algunas medidas para la extinción del procedimiento.


The objective of the present article is to discuss the bioethical aspects of recent genitoplasty practices in female babies in India, taking into consideration psychological, physiological, social, cultural and historical issues that influence such practice. The methodology was based on reviews of articles published in the databases of SciELO and Pubmed websites and on the reading of books which could validate our reasoning. In the discussion, historical and mythological aspects that have built the current position of the woman in the Indian society were addressed, by gathering culture concepts and social subjects related to the theme. Among arguments against the performance of genitoplasty, harms to the girl’s health were highlighted, and mainly the ethical questioning of parents and doctors attitude. Through the analysis of all these factors, it was concluded that the result is harmful to the infant and some measures for the extinction of the procedure were suggested.


Asunto(s)
Humanos , Femenino , Niño , Bioética , Niño , Características Culturales , Cultura , Identidad de Género , Revisión , Procedimientos de Reasignación de Sexo , Mujeres , Factores Culturales , Impacto Psicosocial
20.
Fam Pract ; 27(4): 439-46, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20308245

RESUMEN

BACKGROUND: Ethnicity is an important dimension in many aspects of psychosis. OBJECTIVE: To investigate ethnic differences in the primary care management of patients with psychosis. METHODS: Data were obtained from Lambeth DataNet, a database of computerized general practice case records derived from practices in an inner city London borough. We undertook a cross-sectional survey of patients with psychosis. OUTCOME MEASURES: health screening, chronic disease management and prescribing data and differences between ethnic groups were expressed as odds ratios (ORs). RESULTS: One thousand six hundred and ninety-four of 165,911 (1.02%) registered patients had a diagnosis of psychosis; 1090 (64%) had ethnicity recorded; 501 were White and 403 were Black or Black British. There were no significant ethnic differences for blood pressure, cholesterol or HbA1c monitoring or control; cervical or mammography screening; treatment with hypotensives, statins, antidepressants, lithium, antipsychotics or atypical antipsychotics. Depot injectable antipsychotics were more likely to be prescribed to Black patients than other delivery modes: OR 2.10 (95% CI: 1.20-3.67). CONCLUSIONS: Measurable aspects of physical health care of patients with psychosis were similar, regardless of ethnicity. Increased use of the depot antipsychotic medication in black patients needs further exploration.


Asunto(s)
Población Negra/estadística & datos numéricos , Pruebas Diagnósticas de Rutina/estadística & datos numéricos , Atención Primaria de Salud/estadística & datos numéricos , Trastornos Psicóticos/etnología , Población Blanca/estadística & datos numéricos , Adolescente , Adulto , Anciano , Antipsicóticos/uso terapéutico , Enfermedad Crónica/epidemiología , Comorbilidad , Estudios Transversales , Bases de Datos Factuales , Femenino , Disparidades en Atención de Salud/etnología , Humanos , Londres/epidemiología , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Pautas de la Práctica en Medicina , Trastornos Psicóticos/complicaciones , Trastornos Psicóticos/tratamiento farmacológico , Adulto Joven
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