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1.
Mol Psychiatry ; 28(2): 553-563, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35701598

RESUMO

People recovered from COVID-19 may still present complications including respiratory and neurological sequelae. In other viral infections, cognitive impairment occurs due to brain damage or dysfunction caused by vascular lesions and inflammatory processes. Persistent cognitive impairment compromises daily activities and psychosocial adaptation. Some level of neurological and psychiatric consequences were expected and described in severe cases of COVID-19. However, it is debatable whether neuropsychiatric complications are related to COVID-19 or to unfoldings from a severe infection. Nevertheless, the majority of cases recorded worldwide were mild to moderate self-limited illness in non-hospitalized people. Thus, it is important to understand what are the implications of mild COVID-19, which is the largest and understudied pool of COVID-19 cases. We aimed to investigate adults at least four months after recovering from mild COVID-19, which were assessed by neuropsychological, ocular and neurological tests, immune markers assay, and by structural MRI and 18FDG-PET neuroimaging to shed light on putative brain changes and clinical correlations. In approximately one-quarter of mild-COVID-19 individuals, we detected a specific visuoconstructive deficit, which was associated with changes in molecular and structural brain imaging, and correlated with upregulation of peripheral immune markers. Our findings provide evidence of neuroinflammatory burden causing cognitive deficit, in an already large and growing fraction of the world population. While living with a multitude of mild COVID-19 cases, action is required for a more comprehensive assessment and follow-up of the cognitive impairment, allowing to better understand symptom persistence and the necessity of rehabilitation of the affected individuals.


Assuntos
COVID-19 , Disfunção Cognitiva , Adulto , Humanos , COVID-19/complicações , Neuroimagem , Encéfalo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico , Imageamento por Ressonância Magnética
2.
BMC Psychiatry ; 24(1): 267, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38594701

RESUMO

BACKGROUND: Yoga can be used as a complementary intervention to conventional treatments, whether pharmacological or non-pharmacological. Sustained practice of yoga can generate a series of benefits for individuals' quality of life and improve their physical fitness. OBJECTIVE: To investigate the potential effects of yoga as an adjunct intervention in conditions involving impulse control issues, such as attention deficit hyperactivity disorder (ADHD), borderline personality disorder, bipolar affective disorder, and substance use disorders. METHODS: We performed a systematic review of placebo-controlled, randomized trials of yoga in patients with impulsivity. PubMed, Web of Science, and Science Direct databases were searched for trials published up to January, 2023. Data were extracted from published reports and quality assessment was performed per Cochrane recommendations. RESULTS: Out of 277 database results, 6 RCT were included in this systematic review. To assess the level of attention and impulsiveness, the following scales were analyzed: Barratt Impulsiveness, UPPS-P Impulsive Behavior scale, Conners' Continuous Performance Test IIª and Conners' Parent Rating Scale-Revised: Long. CONCLUSIONS: Yoga didn't have a significant improvement in impulsivity when compared to placebo. There are many tools to assess impulsivity, but they mean different concepts and domains consisting in a weakness on comparison of yoga effects. PROSPERO REGISTRATION: CRD42023389088.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno Bipolar , Yoga , Humanos , Qualidade de Vida , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Comportamento Impulsivo
3.
J Appl Res Intellect Disabil ; 36(3): 413-428, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36760221

RESUMO

BACKGROUND: Intellectual disability (ID) affects 1%-3% of the paediatric population. Currently, there is no consensus as to the most effective strategies for improving the learning skills of children and adolescents with ID. This review aims to systematically gather information regarding interventions to promote and improve learning skills in children/adolescents with ID from previously published systematic reviews and meta-analyses. METHODS: Systematic search strategies, including appropriate descriptors, were employed on Medline, Cochrane, Scopus, Web of Science, Lilacs, SciELO, ERIC, and PsycINFO databases. Quality assessment was conducted via the AMSTAR-2. RESULTS: Fifty-nine studies were selected, subdivided by outcome domains and by the type of intervention. Interventions were related to caregiving, education, pharmaco-dietary, physical, and technology approaches. The overall low quality of the studies limited our recommendations.


Assuntos
Deficiência Intelectual , Criança , Adolescente , Humanos , Aprendizagem , Escolaridade
4.
Eur Child Adolesc Psychiatry ; 31(4): 649-661, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33415470

RESUMO

The aim of the present study was to examine parental experiences of homeschooling during the COVID-19 pandemic in families with or without a child with a mental health condition across Europe. The study included 6720 parents recruited through schools, patient organizations and social media platforms (2002 parents with a child with a mental health condition and 4718 without) from seven European countries: the UK (n = 508), Sweden (n = 1436), Spain (n = 1491), Belgium (n = 508), the Netherlands (n = 324), Germany (n = 1662) and Italy (n = 794). Many parents reported negative effects of homeschooling for themselves and their child, and many found homeschooling to be of poor quality, with insufficient support from schools. In most countries, contact with teachers was limited, leaving parents with primary responsibility for managing homeschooling. Parents also reported increased levels of stress, worry, social isolation, and domestic conflict. A small number of parents reported increased parental alcohol/drug use. Some differences were found between countries and some negative experiences were more common in families with a child with a mental health condition. However, differences between countries and between families with and without a mental health condition were generally small, indicating that many parents across countries reported negative experiences. Some parents also reported positive experiences of homeschooling. The adverse effects of homeschooling will likely have a long-term impact and contribute to increased inequalities. Given that school closures may be less effective than other interventions, policymakers need to carefully consider the negative consequences of homeschooling during additional waves of the COVID-19 pandemic and future pandemics.


Assuntos
COVID-19 , Transtornos Mentais , Criança , Humanos , Transtornos Mentais/epidemiologia , Saúde Mental , Pandemias , Pais/psicologia
5.
J Neurovirol ; 27(6): 849-856, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-32955704

RESUMO

Human T cell leukemia virus type-I (HTLV-1) infection courses with a myelopathy, the tropical spastic paraparesis (HAM/TSP). In a case-control study, we compared the neuropsychological profile and functional characteristics in two case HTLV-1-infected groups (asymptomatic and with HAM/TSP) with a control group negative for HTLV-1. Subjects were paired for age, sex, and educational features. The case group differed from control group in neuropsychological measures such as in episodic memory recall, executive functions, and fine motor dexterity measure. Individuals with HAM/TSP have more depressive symptoms and worst performance in activities of daily living (ADL) presenting a less functionality. In multivariate models, the fine motor performance, the executive functioning, the recognition memory, and the depressive symptoms explained part of the variance in functionality. Those findings may contribute to understand of everyday life impairments and limitations of HTLV-1-infected population and to organize the rehabilitation. Once more, based in neuropsychological and functional data, we can reaffirm that HTLV-1 is never a benign condition, but sometimes it is only in a stage coursing with less symptoms.


Assuntos
Disfunção Cognitiva , Infecções por HTLV-I , Vírus Linfotrópico T Tipo 1 Humano , Paraparesia Espástica Tropical , Atividades Cotidianas , Estudos de Casos e Controles , Disfunção Cognitiva/complicações , Infecções por HTLV-I/complicações , Infecções por HTLV-I/diagnóstico , Humanos , Desempenho Físico Funcional
6.
Pediatr Nephrol ; 36(11): 3547-3559, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34009466

RESUMO

BACKGROUND: Attention deficit and hyperactivity/impulsivity disorder (ADHD) and enuresis are common behavioral disorders in childhood, impacting adolescence and adult life. Enuresis (NE) is an incontinence disorder frequently observed in children with ADHD. The relationship between ADHD and NE has been a matter of debate. OBJECTIVES: We aimed to verify the relationship between ADHD and enuresis and how these conditions can modify each other during development. Using PRISMA guidelines, under the PROSPERO registration number CRD42020208299, we systematically searched the literature and conducted a meta-analysis to answer the following question: how frequent is ADHD and enuresis comorbidity? Twenty-five studies were fully read, and data from seven less heterogeneous case-control studies were pooled to estimate enuresis prevalence comparing ADHD and control samples, whereas six studies were combined to evaluate ADHD frequencies in children with and without enuresis. RESULTS: We found the ADHD rates in children with enuresis are similar to the enuresis rates in the group of children with ADHD. The presence of ADHD and enuresis comorbidity does not seem to play a role in gender distribution and the presence of other comorbidities in comparison to controls. However, enuresis seems to persist for more time in children with ADHD. LIMITATIONS: The selected papers differed in study type, research question, samples, and controls utilized. CONCLUSIONS: Our systematic review with meta-analysis supports the reciprocal association between enuresis and ADHD. Further studies are necessary to build more robust evidence.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Enurese Noturna , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Comorbidade , Humanos , Enurese Noturna/epidemiologia
7.
Curr Psychol ; : 1-8, 2021 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-34776716

RESUMO

The COVID-19 pandemic has created an unusually stressful situation for many people around the world. Due to the restrictions, many have been isolated in their homes, and having a responsive partner may have become even more important. The present study aimed to investigate (1) whether there were any differences in social and work-related stressors and changes in negative mood during the COVID-19 pandemic as a function of marital status, and (2) whether perceived partner responsiveness can attenuate the associations between COVID-19-related stressors and changes in negative mood. The participants were 2,400 Brazilian adults recruited via the Internet, using a virtual sampling strategy. They were assigned to three distinct groups based on their relationship status. The results showed that a relatively large proportion of the sample reported increased levels of negative mood, and that married/cohabitating couples reported low levels of negative change in mood compared to single participants. We also found that partner responsiveness attenuated the association between stress and mental health, but only for people who were dating. Our study contributes new insights by showing that effects on mental health during the COVID-19 pandemic are dependent on relationship type and perceived partner responsiveness.

8.
J Neurosci ; 39(17): 3234-3248, 2019 04 24.
Artigo em Inglês | MEDLINE | ID: mdl-30782975

RESUMO

Neuromodulation of deep brain structures (deep brain stimulation) is the current surgical procedure for treatment of Parkinson's disease (PD). Less studied is the stimulation of cortical motor areas to treat PD symptoms, although also known to alleviate motor disturbances in PD. We were able to show that optogenetic activation of secondary (M2) motor cortex improves motor functions in dopamine-depleted male mice. The stimulated M2 cortex harbors glutamatergic pyramidal neurons that project to subcortical structures, critically involved in motor control, and makes synaptic contacts with dopaminergic neurons. Strikingly, optogenetic activation of M2 neurons or axons into the dorsomedial striatum increases striatal levels of dopamine and evokes locomotor activity. We found that dopamine neurotransmission sensitizes the locomotor behavior elicited by activation of M2 neurons. Furthermore, combination of intranigral infusion of glutamatergic antagonists and circuit specific optogenetic stimulation revealed that behavioral response depended on the activity of M2 neurons projecting to SNc. Interestingly, repeated M2 stimulation combined with l-DOPA treatment produced an unanticipated improvement in working memory performance, which was absent in control mice under l-DOPA treatment only. Therefore, the M2-basal ganglia circuit is critical for the assembly of the motor and cognitive function, and this study demonstrates a therapeutic mechanism for cortical stimulation in PD that involves recruitment of long-range glutamatergic projection neurons.SIGNIFICANCE STATEMENT Some patients with Parkinson's disease are offered treatment through surgery, which consists of delivering electrical current to regions deep within the brain. This study shows that stimulation of an area located on the brain surface, known as the secondary motor cortex, can also reverse movement disorders in mice. Authors have used a brain stimulation technique called optogenetics, which allowed targeting a specific type of surface neuron that communicates with the deep part of the brain involved in movement control. The study also shows that a combination of this stimulation with drug treatment might be useful to treat memory impairment, a kind of cognitive problem in Parkinson's disease.


Assuntos
Córtex Motor/fisiopatologia , Destreza Motora/fisiologia , Doença de Parkinson Secundária/fisiopatologia , Células Piramidais/fisiologia , Animais , Modelos Animais de Doenças , Masculino , Camundongos , Optogenética , Oxidopamina , Doença de Parkinson Secundária/induzido quimicamente , Doença de Parkinson Secundária/terapia , Resultado do Tratamento
9.
Neurobiol Learn Mem ; 168: 107157, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31927084

RESUMO

Differences in motor learning can be partially explained by differences in genotype. The catechol-O-methyltransferase (COMT) Val158Met polymorphism regulates the dopamine (DA) availability in the prefrontal cortex modulating motor learning and performance. Given the differences in tonic and phasic DA transmission, this study aimed to investigate whether the greater cognitive flexibility associated with the Val allele would favor the learning of movement parametrization, while the greater cognitive stability associated with the Met allele favors the acquisition of the movement pattern. Furthermore, we investigated if the genotypic characteristics impact visual scanning of information related to parametrization and to the movement pattern, and the level of cortical connectivity associated with motor planning and control. Performance and learning of a sequential motor task were compared among three genotypes (Val/Val, Val/Met, and Met/Met), as well as their oculomotor behavior and level of cortical coherence. The findings show that the cognitive flexibility promoted by the Val allele is associated with a better parametrization. The search for information through visual scanning was specific to each genotype. Also, a greater cortical connectivity associated with the Val allele was found. The combined study of behavioral, electrophysiological and molecular levels of analysis showed that the cognitive stability and flexibility associated with the COMT alleles, influence specific aspects of motor learning.


Assuntos
Encéfalo/fisiologia , Catecol O-Metiltransferase/fisiologia , Movimentos Oculares/fisiologia , Aprendizagem/fisiologia , Atividade Motora/fisiologia , Adulto , Catecol O-Metiltransferase/genética , Eletroencefalografia , Feminino , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Adulto Jovem
10.
Graefes Arch Clin Exp Ophthalmol ; 257(7): 1453-1458, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31089872

RESUMO

PURPOSE: To evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed. METHODS: Eye examination was performed in eight NF2 patients, and it included the measurement of the visual acuity, biomicroscopy, dilated fundus examination, color fundus photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis was performed with whole-exome sequencing using DNA derived from peripheral blood mononuclear cells from each individual. RESULTS: Ophthalmological features were present in all patients, ranging from subtle retinal alterations identified only using SD-OCT to severe ocular damage present at birth. Six mutations were observed: two patients with stop codon mutation as shown on table 1 and result section, three patients with frameshift mutation as shown on table 1 and result section. Three novel mutations were found among them. CONCLUSIONS: It is a descriptive study of a rare disease, with poor previous literature. Clinical and genetic data are shown, reviving the need to further studies to clarify the genotype-phenotype correlations in NF2.


Assuntos
DNA/genética , Oftalmopatias/etiologia , Genes da Neurofibromatose 2/fisiologia , Mutação , Neurofibromatose 2/diagnóstico , Retina/patologia , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Análise Mutacional de DNA , Oftalmopatias/diagnóstico , Oftalmopatias/metabolismo , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 2/complicações , Neurofibromatose 2/genética , Fenótipo , Retina/metabolismo , Acuidade Visual , Adulto Jovem
11.
J Neurovirol ; 24(4): 432-438, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29589290

RESUMO

An elevated human T cell leukemia virus type 1 (HTLV-1) proviral load (PVL) is an important risk factor for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), although there is a considerable frequency of asymptomatic carriers (AC) with high PVL in blood. Our objective was to evaluate whether PVL quantified in cerebrospinal fluid (CSF) is helpful to distinguish AC from HAM when AC have high PVL in blood (ACH). ACH (n = 7) were characterized to have high PVL in blood by quantification of samples collected over time (mean 7 years). HAM patients (n = 14) also had analyzed blood samples collected at different times (mean 9 years). Comparing paired CSF and blood samples of each individual, CSF PVL mean was 4.7-fold higher than blood PVL in the ACH group and 10.8-fold in the HAM group. CSF PVL was significantly greater than blood PVL in the HAM group (p = 0.004), but not in the ACH group. Important to highlight, CSF PVL was not significantly different between the ACH and the HAM groups. These results suggested that significantly higher PVL in CSF than in blood is a hallmark of HAM/TSP patients, but this is also true for asymptomatic carriers with high PVL in blood, thus reducing its usefulness as a marker for HAM/TSP. A greater number of ACH should be analyzed, but whether they will eventually develop HAM/TSP or why they have not developed the disease are still questions to be clarified. Longitudinal studies are necessary to answer these questions.


Assuntos
Portador Sadio/líquido cefalorraquidiano , Portador Sadio/diagnóstico , Paraparesia Espástica Tropical/líquido cefalorraquidiano , Paraparesia Espástica Tropical/diagnóstico , Idoso , Feminino , Vírus Linfotrópico T Tipo 1 Humano , Humanos , Masculino , Pessoa de Meia-Idade , Paraparesia Espástica Tropical/sangue , Provírus , Carga Viral/métodos
12.
J Neural Transm (Vienna) ; 124(9): 1151-1158, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28550509

RESUMO

Alcoholism is a psychiatric disorder that composes one of the principal causes of health disabilities in the world population. Furthermore, the available pharmacotherapy is limited. Therefore, this research was carried out to better understand the basis of the underlying neurobiological processes of this disorder and to discover potential therapeutic targets. Real-time PCR analysis was performed in the amygdala nuclei region of the brain of mice exposed to a chronic three-bottle free-choice model (water, 5 and 10% v/v ethanol). Based on individual ethanol intake, the mice were classified into three groups: "compulsive-like" (i.e., ethanol intake not affected by quinine adulteration), "ethanol-preferring" and "ethanol non-preferring". A fourth group had access only to tap water (control group). The candidate gene ACSS2 was genotyped in human alcoholics by real-time polymerase chain reaction using the markers rs6088638 and rs7266550. Seven genes were picked out (Acss2, Acss3, Acat1, Acsl1, Acaa2, Hadh, and Hadhb) and the mRNA level of the Acss2 gene was increased only in the "compulsive-like" group (p = 0.004). The allele frequency of rs6088638 for the gene ACSS2 was higher in the Alcoholic human group (p = 0.03), although sample size was very small. The gene ACSS2 is associated with alcoholism, suggesting that biochemical pathways where it participates may have a role in the biological mechanisms susceptible to the ethanol effects.


Assuntos
Acetato-CoA Ligase/genética , Acetato-CoA Ligase/metabolismo , Alcoolismo/enzimologia , Alcoolismo/genética , Adulto , Animais , Depressores do Sistema Nervoso Central/administração & dosagem , Comportamento de Escolha/fisiologia , Comportamento Compulsivo/enzimologia , Comportamento Compulsivo/genética , Modelos Animais de Doenças , Etanol/administração & dosagem , Feminino , Frequência do Gene , Humanos , Masculino , Camundongos , Polimorfismo de Nucleotídeo Único , RNA Mensageiro/metabolismo
13.
Mediators Inflamm ; 2017: 8201423, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28553016

RESUMO

Objectives. To evaluate the association between inflammatory biomarkers, neurotrophic factors, birth conditions, and the presence of motor development abnormalities in preterm neonates. Methods. Plasma and urinary levels of cytokines (IL-1ß, IL-6, IL-10, TNF, and IL-12p70), chemokines (CXCL8/IL-8, CCL2/MCP-1, CCL5/RANTES, CXCL10/IP-10, and CXCL9/MIG), and neurotrophic factors (BDNF and GDNF) were evaluated in 40 preterm neonates born between 28 and 32 incomplete weeks of gestation, at four distinct time points: at birth (umbilical cord blood) (T0), at 48 (T1), at 72 hours (T2), and at 3 weeks after birth (T3). Biomarkers levels were compared between different time points and then associated with Test of Infant Motor Performance (TIMP) percentiles. Results. Maternal age, plasma, and urinary concentrations of inflammatory molecules and neurotrophic factors were significantly different between groups with normal versus lower than expected motor development. Higher levels of GDNF were found in the group with lower than expected motor development, while IL-1ß and CXCL8/IL-8 values were higher in the group with typical motor development. Conclusion. Measurements of cytokines and neurotrophic factors in spot urine may be useful in the follow-up of motor development in preterm neonates.


Assuntos
Biomarcadores/urina , Fator Neurotrófico Derivado de Linhagem de Célula Glial/urina , Recém-Nascido Prematuro , Interleucina-1beta/urina , Adolescente , Adulto , Biomarcadores/sangue , Quimiocinas/sangue , Quimiocinas/urina , Citocinas/sangue , Citocinas/urina , Feminino , Idade Gestacional , Fator Neurotrófico Derivado de Linhagem de Célula Glial/sangue , Humanos , Recém-Nascido , Inflamação , Interleucina-1beta/sangue , Interleucina-8/sangue , Interleucina-8/urina , Masculino , Idade Materna , Fatores de Crescimento Neural/sangue , Fatores de Crescimento Neural/urina , Gravidez , Estudos Prospectivos , Fatores de Tempo , Adulto Jovem
14.
Int J Geriatr Psychiatry ; 31(12): 1337-1344, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-26876984

RESUMO

OBJECTIVES: In 2012, Kamboh and colleagues published a genome-wide association study that identified the DCHS2 gene (rs1466662 T/A) influencing the age at onset of Alzheimer's disease (AD). We aimed to investigate if there is association between the DCHS2 gene and amnestic mild cognitive impairment (aMCI) and AD in a sample of the Brazilian population. METHODS: 143 controls, 79 aMCI and 299 AD patients were selected and submitted to the same protocol of tests. Genotyping was performed using the Real Time PCR RESULTS: Amnestic MCI patients showed a higher prevalence of AA than controls and a lower frequency of TT when compared with controls. We also stratified the sample according to the APOE ε4 status. No difference in DCHS2 genotype or allelic frequency occurred in the APOE ε4 allele carrier subgroup. Amnestic MCI patients showed a higher frequency of AA genotype and a lower frequency of TA and TT when compared with controls in APOE ε4 allele non-carrier subgroup. The allelic distribution followed the same pattern. In AD group, we observed a significant difference with a higher A allelic frequency in AD in this subgroup. A multiple logistic regression demonstrated that in APOE ε4 non-carriers, allele rs1466662 was associated to aMCI group. Different variables were associated with aMCI and AD according to APOE ε4 status in our sample. Low level of education was associated with AD, while diabetes mellitus type 2 was associated with aMCI. Copyright © 2016 John Wiley & Sons, Ltd. CONCLUSIONS: Our findings suggest a possible role for DCHS2 gene in aMCI and AD.


Assuntos
Doença de Alzheimer/genética , Caderinas/genética , Disfunção Cognitiva/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/etiologia , Brasil/epidemiologia , Estudos de Casos e Controles , Escolaridade , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Modelos Logísticos , Masculino , Fatores de Risco
15.
Int Psychogeriatr ; 27(10): 1687-92, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25853819

RESUMO

BACKGROUND: Evidences suggest that GAB2 and BDNF genes may be associated with Alzheimer's disease (AD). We aimed to investigate the GAB2 rs2373115 and BDNF rs6265 polymorphisms and the risk of AD in a Brazilian sample. METHODS: 269 AD patients and 114 controls were genotyped with Real-time PCR. Multifactor dimensionality reduction (MDR) was employed to explore the effects of gene-gene interactions. RESULTS: GAB2 and BDNF were not associated with AD in our sample. Nevertheless BDNF Val allele (rs6265) presented a synergic association with the APOE ε4 allele. A multiple logistic regression demonstrated that the APOE ε4 allele and years of education were the best predictors for AD. In ε4 non-carriers sex, education and hypertension were independently correlated with AD, while in ε4 carriers we did not observe any association. The findings were further confirmed by bootstrapping method. CONCLUSIONS: Our data suggest that the interaction of BDNF and APOE has significant effect on AD. Moreover in absence of ε4, female sex, low level of education and hypertension are independently associated with AD. Interventions aimed to prevent AD should focus on these factors and also taking into account the APOE alleles.


Assuntos
Doença de Alzheimer/genética , Apolipoproteína E4/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Brasil , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fatores de Risco
16.
BMC Pediatr ; 15: 108, 2015 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-26337867

RESUMO

BACKGROUND: Sometimes, in pediatric oncology, it is difficult to differentiate the relapse of primary tumor from other diagnoses such as post-ischemic lesions or fungal abscess, without performing an organ biopsy. In addition, patients frequently are not under clinical conditions to be biopsied, mainly due to febrile neutropenia. A growing number of studies has focused on the use of Positron emission tomography/computed tomography with 18 Fluorodeoxyglucose ([(18)F]FDG-PET/CT) to distinguish tumor relapse from infectious lesions in patients with febrile neutropenia. CASE PRESENTATION: This case report describes a 6 years-old girl with febrile neutropenia during the treatment of neuroblastoma. Blood culture showed Candida sp. Abdominal ultrasonography revealed multiple unspecific hypoechoic areas of variable sizes in spleen, which might be either tumor or Candida-induced abscesses. [(18)F]FDG-PET/CT was performed to help the diagnosis and revealed small splenic lesions highly suggestive of disseminated candidiasis. Patient was then treated with systemic antifungal agent. After the recovery from febrile neutropenia, a spleen biopsy was performed, confirming the diagnosis of fungal abscess. Due to the small size of lesions, modalities such as ultrasonography, CT and magnetic nuclear resonance were not able in distinguishing tumor relapse from infectious lesions. CONCLUSION: This case provides an excellent example in which the use of [(18)F]FDG-PET/CT is valuable in helping to localize potential sites of disseminated fungal infection to be diagnosed within clinical context. [(18)F]FDG-PET /CT seems to have a role in the evaluation of pediatric patients with febrile neutropenia.


Assuntos
Abscesso/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Candidíase/diagnóstico por imagem , Neuroblastoma/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Esplenopatias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Abscesso/tratamento farmacológico , Candidíase/tratamento farmacológico , Criança , Diagnóstico Diferencial , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Imagem Multimodal , Neutropenia/complicações , Compostos Radiofarmacêuticos , Esplenopatias/tratamento farmacológico
17.
Birth Defects Res C Embryo Today ; 102(4): 374-81, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25420794

RESUMO

Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of disorders that result from abnormalities of the urinary collecting system, abnormal embryonic migration of the kidneys, or abnormal renal parenchyma development. These disorders are commonly found in humans, accounting for 20-30% of all genetic malformations diagnosed during the prenatal period. It has been estimated that CAKUT are responsible for 30-50% of all children with chronic renal disease worldwide and that some anomalies can predispose to adult-onset diseases, such as hypertension. Currently, there is much speculation regarding the pathogenesis of CAKUT. Common genetic background with variable penetrance plays a role in the development of the wide spectrum of CAKUT phenotypes. This review aims to summarize the possible mechanisms by which genes responsible for kidney and urinary tract morphogenesis might be implicated in the pathogenesis of CAKUT.


Assuntos
Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/patologia , Adulto , Humanos , Rim/embriologia , Sistema Urinário/embriologia , Anormalidades Urogenitais/embriologia
18.
Int J Geriatr Psychiatry ; 29(4): 399-405, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24022875

RESUMO

OBJECTIVES: Examine the association between polymorphisms in the AKT1 and AKTIP genes and late-onset depression (LOD). Major depressive disorder is one of the most prevalent neuropsychiatric diseases. LOD is a disorder that starts after 65 years old. AKT1 is a downstream enzyme that has been implicated in the pathogenesis of neurotransmitter-related disorders, such as depression. The identification of a novel AKT1-binding protein (AKTIP) was pointed as an important new target. AKTIP binds directly to AKT1, enhancing the phosphorylation of regulatory sites, and this modulation are affected by AKT1 activation. The association of AKT1 and AKTIP polymorphisms with depressive symptoms was not investigated in LOD. DESIGN: Genotype tagSNPs in the AKT1 and AKTIP in LOD patients and controls. SETTINGS: An academic medical center. PARTICIPANTS: Sample composed by 190 outpatients with LOD and 77 healthy individuals. MEASURES: The participants were evaluated using Diagnostic and Statistical Manual IV criteria, MINI-PLUS and the Geriatric Depression Scale. RESULTS: Our findings suggested an association between the tagSNP rs3730358 homozygous A/A (p = 0.006) and LOD. A strong association of allele A and increased association for LOD was demonstrated with tagSNP rs3730358 (p-value = 0.003). LIMITATIONS: Limitation include composition of our control group, where the exclusion criteria generated a kind of super-healthy older group what might have produced a hidden stratification when compared with the LOD. CONCLUSION: This study is the first one to establish the association of the AKT1/AKTIP genes and LOD, and further studies are necessary to clarify the functional role of these proteins.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Transtorno Depressivo Maior/genética , Polimorfismo Genético , Proteínas Proto-Oncogênicas c-akt/genética , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Alelos , Brasil , Estudos de Casos e Controles , Feminino , Frequência do Gene , Variação Genética , Humanos , Masculino
19.
J Neuroimmunol ; 389: 578327, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38489978

RESUMO

Individuals who experience mild COVID-19 can suffer from long-lasting cognitive symptoms. Notably, 26% of these individuals experience difficulties with visuospatial abilities six months after infection. However, among those who initially exhibited visuoconstructive impairments, 66% showed improvement or complete reversal over time. Additionally, changes in cytokine levels, particularly CCL11, HGF, and CXCL10, were observed. These results suggest a potential link between ongoing cognitive issues and elevated levels of pro-inflammatory cytokines, which merits further investigation.


Assuntos
COVID-19 , Disfunção Cognitiva , Humanos , Seguimentos , COVID-19/complicações , Disfunção Cognitiva/etiologia , Citocinas
20.
J Pediatr (Rio J) ; 100(2): 218-225, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38012954

RESUMO

OBJECTIVE: Enuresis is associated with attentional and emotional comorbidities in 20 to 30 % of cases. The Short Screening Instrument for Psychological Problems in Enuresis (SSIPPE) is a questionnaire that allows the initial screening of these comorbidities. This study aimed to translate, culturally adapt, and validate the SSIPPE for Brazilian children and adolescents (SSIPPE-Br). METHODS: Six steps were performed for translation and cross-cultural adaptation: translation, synthesis of translations, back-translation, preparation of the pre-final version of the translated instrument, test of comprehensibility of the pre-final version of the tool, and elaboration of the instrument cross-culturally adapted for Brazil, named 13-itens version SSIPPE-Br. To validate the SSIPPE-Br, a cross-sectional study was carried out, in which the validated Brazilian version of the Child and Adolescent Behavior Inventory (CABI) was used. RESULTS: Validation was performed on 127 children and adolescents with a mean age of 9.7 ± 2.8 years, 48 % male. The reliability was estimated using Cronbach's alpha, ranging from 0.86 to 0.89, indicating good internal consistency. The factorial analysis had a good agreement adjustment (KMO 0.755, Bartlett's test < 0.001) and explained 70.5 % of the data variability. In the reproducibility analysis, the Kappa coefficient ranged from 0.94 to 1, which can be considered almost perfect. A highly significant (p-value < 0.001) and direct correlation existed between the three SSIPPE-Br domains and all evaluated CABI domains. CONCLUSION: The SSIPPE-Br is a valid and reliable tool for emotional problems screening and ADHD symptoms in children and adolescents with enuresis whose first language is Brazilian Portuguese.


Assuntos
Comparação Transcultural , Enurese Noturna , Criança , Adolescente , Humanos , Masculino , Feminino , Brasil , Reprodutibilidade dos Testes , Estudos Transversais , Inquéritos e Questionários , Traduções , Psicometria
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