Jaqueline Bohrer Schuch

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Verified

Jaqueline verified their affiliation via an institutional email.

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• PhD
• Researcher at Hospital Moinhos de Vento

s nesses of ADHD Symptoms and Normal Behavior Rating Scale (SWAN). We estimated PRS using a principal component extension to PRSice-2 in genotyped European ancestry individuals (n = 3197) using SNP effect sizes from the largest available ADHD genome wide association study. Environmental exposures (NO2, PM2.5, greenness) were obtained from linking g...

Objective: We aimed to assess the effect of N-acetylcysteine (NAC), as an adjuvant treatment, on treatment adherence (primary outcome), in peripheral biomarkers and clinical improvement (secondary outcomes) in alcohol use disorders (AUD) patients. Methods: A 9-week randomized, double-blind, placebo-controlled trial (RCT) was conducted on 53 (n=2...

Introduction Approximately 10% of breast cancer (BC) cases result from hereditary causes. Genetic testing has been widely implemented in BC care to determine hereditary cancer syndromes and personalized medicine. Thus, identification of individuals carrying germline pathogenic variants could be useful to provide appropriate prophylactic or screenin...

Background: Substance use is strongly associated with suicide attempts throughout life. We aimed to investigate the prevalence of suicide attempts (SA) and associated factors in life in patients with Alcohol Use Disorder (AUD). Methods: The sample consisted of 424 men with AUD who underwent treatment at the Addiction Psychiatry Unit of the Hospi...

Background: Breast and prostate cancers are the most common malignancies diagnosed in women and men respectively, and present with great clinical heterogeneity, even in tumors with the same phenotypic characteristics. Somatic and germline molecular alterations in DNA may have prognostic and predictive impact, influencing response to therapies and o...

Background Breast and prostate cancers are the most common malignancies diagnosed in women and men respectively, and present with great clinical heterogeneity, even in tumors with the same histology and same site of origin. Somatic and germline molecular alterations in DNA may have prognostic and predictive impact, influencing response to therapies...

Objective: To investigate the relationship between impulsivity and early trauma through a network analysis in individuals diagnosed with different substance use disorders (SUD). Methods: This cross-sectional study includes a sample of 556 men with SUD (195 with alcohol use, 157 with crack cocaine use and 214 with multiple substance use). The Chi...

Background: Neutrophil-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), and platelets-lymphocyte ratio (PLR) are biomarkers easy-to-obtain and could be used in clinical practice to verify an inflammatory status and are associated with alcohol use disorder (AUD) and cocaine use disorder (CUD). Our aim was to compare NLR, MLR and PLR amon...

Introduction: The HIV prevalence is higher in Porto Alegre compared to other capitals in Brazil. Alcohol abuse affects critical judgment, being associated with risky behaviors that can lead to HIV infection. Aim: To analyze factors associated with exposure to HIV in alcohol users, comparing those with risky sexual practices and those who use preven...

Consumption of substances has been associated with cognitive impairment. The Mini Mental State Examination (MMSE) is an easy-to-apply screening tool used to assess cognitive functions. Objectives To evaluate the cognitive performance of individuals with alcohol (AUD) and/or crack cocaine use disorder (CUD) and polysubstance use using the MMSE and...

Background Psychoactive substance use among pregnant women has reached alarmingly high rates. Our aim was to characterize the psychiatric and clinical profiles of pregnant crack users in Brazil. Methods This was a cross-sectional study of 24 pregnant crack users admitted to a referral hospital for psychiatric disorders in pregnant women, in Porto...

Several theories have been proposed to explain the complex diagnostic aspects related to addiction disorders and their development. Recent frameworks tend to focus on dimensional perspectives of symptoms rather than categorical systems, since substance use disorders are frequently comorbid with other psychiatric and especially personality disorders...

Altered immune response during pregnancy has been associated with ASD susceptibility. HLA-G is expressed by the trophoblast at the maternal/fetal interface and induces allogenic tolerance toward the fetus. A 14-bp insertion in the HLA-G 3'UTR (rs371194629) was associated with reduced levels of HLA-G. We aimed to assess the influence of the HLA-G*14...

Introduction: Alcohol use disorder (AUD) is associated with changes in metabolism and in the nutritional profile. Food-seeking behaviors and psychoactive substances share common biological pathways that activate the reward system and leptin is a modulator of this system. Objective: To measure serum leptin levels and nutritional status of individual...

Autism Spectrum Disorder (ASD) is a set of neurodevelopmental disorders mainly characterized by repetitive, restrictive and stereotypical behaviors, and impaired communication skills. Several lines of evidence indicate that alterations of the immune system account for ASD development, including the presence of brain-reactive antibodies, abnormal T...

Brain derived neurotrophic factor (BDNF) is involved in several drug-induced brain neuroadaptations. The impact of withdrawal from substances that have different neurological mechanisms on BDNF levels is unclear. Our goal was to compare serum BDNF levels in inpatients with alcohol or crack cocaine use disorders during the early withdrawal period, a...

Autism Spectrum Disorder (ASD) is a set of neurodevelopmental disorders usually observed in early life, with impacts on behavioral and social skills. Incidence of ASD has been dramatically increasing worldwide, possibly due to increase in awareness/diagnosis as well as to genetic and environmental triggers. Currently, it is estimated that ∼1% of th...

Introduction: The consumption of substances has been associated with cognitive impairment. The Mini Mental State Examination (MMSE) is an easy-to-apply screening used to assess cognitive functions. Our aim was to evaluate the cognitive performance of individuals with alcohol and/or crack cocaine use disorder (AUD, CUD, and polysubstance use) using...

Background: Cocaine use disorder (CUD) has been associated with early life adversity and activated cellular immune responses. Women are most vulnerable to complications from chronic substance disorders, generally presenting an intense feeling of abstinence and consuming significant drug amounts. Here, we investigated neutrophil functional activiti...

A prevalência de HIV é maior em Porto Alegre comparada ao restante do país. O abuso de álcool afeta o juízo crítico, sendo associado a comportamentos de risco que podem levar à contaminação pelo HIV. Objetiva-se analisar fatores associados à exposição ao HIV em alcoolistas com práticas sexuais de risco comparando com aqueles que se previnem.

Alcohol Use Disorder (AUD) is a highly prevalent condition worldwide that produces a wide range of pathophysiological consequences, with a critical impact on health and social issues. Alcohol influences gene expression through epigenetic changes mainly through DNA methylation. In this sense, levels of 5-methylcytosine (5-mC), namely Global DNA meth...

Objective: This study aimed to evaluate whether progression from first drug use to crack-cocaine use differs according to gender, and whether the report of sexual or physical violence impacts the time of progression. Methods: We interviewed 896 crack-cocaine users (548 men; 348 women) from addiction treatment units. Cox regression models evaluat...

Aim: To compare the suicide rates observed in Brazil after the onset of the COVID-19 pandemic with the estimated number based on suicide deaths between 2010 and 2020, and to identify sociodemographic variables associated with this outcome. Methods: An ecological time-series study. Data were obtained from DATASUS, with the structural break of the...

Introduction: High rates of early hospital discharge are often observed in crack cocaine users, being related to adverse outcomes, and increased public spending. This study evaluated clinic and sociodemographic factors associated with early treatment discharge among crack users. Methods: The sample included 308 men diagnosed with crack cocaine u...

Objective: This study reviewed and analyzed the prevalence of suicidal behaviors among cocaine users who sought health services. Methods: This is a systematic review and meta-analysis of studies published until January 2021. PubMed/MEDLINE, Scopus, Embase, PsycINFO, and LILACS were searched. The inclusion criteria were observational (retrospecti...

Aim Parental caregivers of children with Down Syndrome (DS) have a greater burden of daily activities that may affect their health. The aim of this exploratory study was to evaluate the impact of caregiving of children with Down syndrome on parenting quality of life, stress, mental and oral health. Methods Fifty-four parental caregivers of childre...

The Synaptotagmin-1 encoding gene ( SYT1 ) is a key regulator of neurotransmitter release and is associated with cognitive and psychiatric phenotypes in GWAS, and with ADHD in single-gene studies, raising the need for dissecting possible cross-trait effects on clinical and brain phenotypes. Inferences about white matter microstructure can be made b...

Background: Studies have reported the worsening of psychiatric symptoms during the COVID-19 pandemic. However, few studies have evaluated the impact on the access to mental health services during COVID-19. Our aim was to analyze temporal trends and prediction of appointments held in Brazil's public health system, to compare the observed and expecte...

Objectives: to calculate the prevalence and rate per 1,000 live births of sexually transmitted infections (STI) in pregnant women at a public maternity hospital in Salvador. Methods: this descriptive, cross-sectional study retrospectively collected data from compulsory notifications and medical records of pregnant women with STI seen at a maternity...

Background Prenatal cocaine exposure (PCE) is associated with behavioral, cognitive, and social consequences in children that might persist into later development. However, there are still few data concerning epigenetic mechanisms associated with the effects of gestational cocaine exposure, particularly in human newborns. Aims We investigated the...

Background: Changes in the brain-derived neurotrophic factor (BDNF) has been linked to the neuroadaptative consequences of chronic alcohol use and associated with disease severity and prognosis. Few studies have evaluated the influence of drug withdrawal and clinical and sociodemographic data on BDNF levels in severe alcohol users. Aims: Our goa...

Objective: To identify factors associated with mental health of older adults during the pandemic and to provide strategies to mitigate their psychosocial impact in the elderly. Method: An integrative text mining analysis in Medline was performed to identify studies on the mental health of older adults during the pandemic. Subsequently, statistical...

The COVID-19 pandemic is a public health emergency. Individuals with substance use disorder have a higher risk of infection and may suffer from more severe forms of the disease. Our goal is to investigate the prevalence of risk factors for COVID-19 severity in individuals with different substance use and explore whether specific types of substance...

Genome-wide studies provide increasing evidence of association of genetic variants with different behaviors. However, there is a growing need for replication and subsequent characterization of specific findings. In this sense, the CHRNA5 gene has been associated with nicotine (with genome-wide significance), alcohol and cocaine addictions. So far,...

Introduction Brazil is one of the countries with the highest rates of alcohol-related traffic infractions, but little is known about the profile of the drivers who commit them. Identifying the characteristics of impaired drivers is essential for planning preventive actions. Objective To compare drug use and driving behavior profiles of drivers wit...

Background Point-of-collection testing (POCT) devices for psychoactive substance detection through oral fluid samples are used in several countries for traffic enforcement. However, the reported reliability of such devices is quite heterogeneous among studies, and evaluating and comparing their analytical performance is of paramount importance to g...

Introduction The dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis has a key role in drug addiction susceptibility. In addition to the well-known relationship between cortisol and the HPA axis, other molecules are involved with stress response and could modify the HPA activation, such as the neuropeptide Y (NPY), which has anxiolytic p...

Background Suicide is a severe health problem, with high rates in individuals with addiction. Considering the lack of studies exploring suicide predictors in this population, we aimed to investigate factors associated with attempted suicide in inpatients diagnosed with cocaine use disorder using two analytical approaches. Methods This is a cross-s...

Após o ataque de 11 de setembro nos Estados Unidos e o incêndio da boate Kiss no Brasil, forças-tarefa de assistência psicológica para vítimas e suas famílias foram rapidamente organizadas. No entanto, durante as pandemias, é comum que os profissionais de saúde, cientistas e gestores se concentrarem predominantemente no patógeno e no risco biológic...

Background: Dysregulation of the hypothalamic-pituitaryadrenal (HPA) axis has been associated with craving and early relapse among individuals with substance use disorders. However, no association has been postulated regarding treatment retention and prognosis in crack cocaine users. Objective: Our aim was to investigate the association between...

Background: Cocaine is a psychostimulant drug with high addictive proprieties. Evidence suggests that cocaine use leads to critical changes in the immune system, with significant effects on T, B, and natural killer (NK) cells and influencing peripheral levels of cytokines. The presence of abstinence-related symptoms during detoxification treatment...

The SNP rs2251214 of the SYT1 gene was recently associated with externalizing phenotypes, including ADHD and cocaine use disorder (CUD). Here, we investigated whether SYT1-rs2251214 could also be implicated with cognitive performance variations among women with CUD. Results showed that G homozygous (n = 146) have lower cognitive performance in the...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, with strong genetic influences as evidenced by its high heritability. Submicroscopic variations (ranging from one kilobase to several megabases) in DNA, called copy number variations (CNVs), have been associated with psychiatric diseases, including ASD. We aimed to identify CNVs in ch...

Crack cocaine use disorder (CUD) has been related to sex differences. This work aimed to compare the severity of drug use and the severity of other negative related outcomes in males and females with CUD. A total of 1344 inpatients (798 males and 546 females) with crack cocaine use disorder (CUD) were evaluated by a detailed multidimensional clinic...

Rheumatoid arthritis (RA) has been associated with early senescent features. However, the effects of disease progression on senescence markers are largely unknown. Here, we evaluated key senescence markers in RA, including telomere length and T cell differentiation stages as well as cytomegalovirus (CMV) serology, previously associated with prematu...

Synaptotagmin-1 is an essential regulator of synaptic vesicle exocytosis, and its encoding gene (SYT1) is a genome and transcriptome-wide association hit in cognitive performance, personality and cocaine use disorder (CUD) studies. Additionally, in candidate gene studies the specific variant rs2251214 has been associated with attention-deficit/hype...

Neurodevelopmental disorders are prevalent, frequently occur in comorbidity and share substantial genetic correlation. Previous evidence has suggested a role for the ADGRL3 gene in Attention-Deficit/Hyperactivity Disorder (ADHD) susceptibility in several samples. Considering ADGRL3 functionality in central nervous system development and its previou...

Objective: Traffic fatalities in Brazil still rank among the highest worldwide, with an overall rate of 23.4 deaths/100,000 inhabitants/year. Although alcohol and drug use play an important role in traffic accidents, national data about their relative influence are scarce. Drug screening is not routinely performed by traffic agents because alcohol...

There is evidence that dopamine receptors D2 (DRD2) and D4 (DRD4) polymorphisms may influence substance use disorders (SUD) susceptibility both individually and through their influence in the formation of DRD2–DRD4 heteromers. The dopaminergic role on the vulnerability to addiction appears to be influenced by sex. A cross-sectional study with 307 c...

The recent outbreak of the Zika virus (ZIKV) and the discovery that perinatal Zika exposure can lead to the Congenital Zika Syndrome has promoted a call for prevention measures. Due to the increased number of babies born with microcephaly, structural brain abnormalities, and neurological alterations in regions affected by ZIKV, investigations were...

Background Synaptotagmin 1 is expressed in synaptic vesicles and plays an important role on neuroexocytosis. A variant in its encoding gene (SYT1-rs2251214) has been associated with ADHD susceptibility and with other externalizing behaviors and comorbidities. Recently, it was also shown to influence response variability to Methylphenidate (MPH) in...

Background Attention-Deficit Hyperactivity Disorder (ADHD) is highly heritable and has been associated with several genes in different reports. The serotonergic genes are among the most consistently associated with ADHD and related phenotypes, according to meta-analyses. Therefore, the aim of this study was to investigate associations between serot...

Background Crack cocaine is a highly addictive substance and this dependence has a significant prevalence worldwide, especially in Brazil. Several factors are involved on crack cocaine dependence, and heritability estimates have highlighted the influence of genetic variants in the dependence susceptibility. Previous studies have shown that genetic...

Background Substantial interindividual variability is observed in treatment response to Methylphenidate (MPH), which is considered the first-line pharmacological treatment for adults with ADHD. In addition to its main known mechanism of action involving the blockade of the dopamine transporter, experimental studies have also indicated an ability of...

Adults exposed to childhood maltreatment have increased stress reactivity. This profile is associated with dysregulation of the immune system, including enhanced inflammatory reactions and accelerated senescence. Subjects exposed to ear stress have increased risk for several age-related diseases, including cardiovascular disease, type II diabetes,...

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder characterized by impairments in social behaviors and communication. Oxytocin and its signaling pathway are related to a range of human behaviors, from facial expression recognition to aggressive behaviors, and have been suggested as involved in the etiology of ASD. Our aim...

The circadian clock system drives daily rhythms in physiology, metabolism, and behavior in mammals. Molecular mechanisms of this system consist of multiple clock genes, with Circadian Locomotor Output Cycles Kaput (CLOCK) as a core member that plays an important role in a wide range of behaviors. Alterations in the CLOCK gene are associated with co...

Attention-deficit/hyperactivity disorder (ADHD) is a very common psychiatric disorder across the life cycle and frequently presents comorbidities. Since ADHD is highly heritable, several studies have focused in the underlying genetic factors involved in its etiology. One of the major challenges in this search is the phenotypic heterogeneity, which...

Attention-deficit/hyperactivity disorder (ADHD) is highly heritable and has been associated with multiple variants within serotonergic genes. Therefore, the aim of this study was to investigate associations between serotonergic pathway genes and ADHD, through both gene-based and gene-set approaches. The sample comprised 417 subjects with ADHD and 4...

Attention-Deficit/Hyperactivity Disorder (ADHD) is a common and highly heritable neuropsychiatric disorder. Despite the high heritability, the unraveling of specific genetic factors related to ADHD is hampered by its considerable genetic complexity. Recent evidence suggests that gene-gene interactions can explain part of this complexity. We examine...

Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biol...

Experimental studies have demonstrated that methylphenidate (MPH) modulates the synaptic vesicle trafficking and synaptotagmin-1 (SytI) mRNA levels. SytI is a regulatory protein of the SNARE complex, a neurotransmitter exocytosis mediator. Despite this evidence, most SNARE complex-related genes have never been evaluated in attention-deficit/hyperac...

This study examined the effects of glucocorticoid receptor (NR3C1), corticotropin-releasing hormone receptor 1 (CRHR1), and brain-derived neurotrophic factor (BDNF) genes on susceptibility to crack cocaine addiction and BDNF levels. Crack addicted patients who sought treatment (n = 280) and non-addicted individuals (n = 241) were assessed. Three SN...

Attention-Deficit/Hyperactivity Disorder (ADHD) is a common psychiatric disorder, affecting both children and adults. The Soluble N-ethylmaleimide sensitive factor Attachment REceptors (SNARE) complex has been implicated in ADHD pathophysiology since it is a key component of neurotransmitter release events and neurodevelopment processes, and SNPs i...

Background: This study aims to compare allele and genotype frequencies of a 30-bp variable number of tandem repeats (VNTR) polymorphism of the DAT1 gene, located at intron 8, between adult crack cocaine users and nonaddicted individuals. Due to its involvement in drug addiction, this gene is a good candidate for molecular studies. Methods: A cro...

The serotonin system is associated with mood disorders and impulsivity. The serotonin transporter is encoded by SLC6A4 gene and may influence alcohol intake. Along this gene, STin2 is described as a functional VNTR polymorphism of 17bp, in intron 2, with three main alleles (9, 10 and 12 repeats); 9 repeats is the less frequent among these (<1%). Th...

Multiple biological processes throughout development require intracellular vesicular trafficking, where the SNARE (soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein (SNAP) receptors) complex plays a major role. The core proteins forming the SNARE complex are SNAP-25 (synaptosomal-associated protein 25), VAMP (vesicle-associated mem...

Background: The corticotropin-releasing hormone receptor 1 (CRHR1) gene has been repeatedly implicated in Major Depressive Disorder (MDD) in humans and animal models; however, the findings are not absolutely convergent. Since recent evidence from genome-wide association studies suggests that narrowing the phenotypic heterogeneity may be crucial in...

Crack cocaine addicted inpatients that present more severe withdrawal symptoms also exhibit higher rates of depressive symptoms. There is strong evidence that the identification of genetic variants in depression is potentialized when reducing phenotypic heterogeneity by studying selected groups. Since depression has been associated to dysregulation...

Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction and repetitive and stereotyped behaviors. Serotoninergic transmission has been suggested as an important neuronal pathway in ASD. In this study, we analyzed four polymorphisms (5HTTLPR, rs2066713, STin2,...

Although new candidate genes for Autism Spectrum Disorder (ASD), Schizophrenia (SCZ), Attention-Deficit/Hyperactivity Disorder (ADHD), and Bipolar Disorder (BD) emerged from genome-wide association studies (GWAS), their underlying molecular mechanisms remain poorly understood. Evidences of the involvement of intrinsically disordered proteins in dis...

Several autism spectrum disorders (ASD) exome studies suggest that coding single nucleotide variants (SNVs) play an important role on ASD etiology. Usually, the pathogenic effect of missense mutations is estimated through predictors that lose accuracy for those SNVs placed in intrinsically disordered regions of protein. Here, we used bioinformatics...

Pesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo - TEA em pais e irmãos destes indivíduos, que são definidas como Fenótipo Ampliado do Autismo (FAA). Este estudo investigou o perfil de personalidade de 20 genitores de crianças com o diagnóstico de TEA, utilizando a Bateria Fatorial de Personalidade...

Autism spectrum disorder (ASD) is multifactorial and complex condition, with a marked genetic influence, as evidenced by the high heritability (around 80—90%). Additionally, both common and rare genetic variants have an influence on the etiology and development. Several genetic syndromes are described in ASD, and they are present in approximately 1...

Autism Spectrum Disorders (ASDs) represent a group of very complex early-onset neurodevelopmental diseases. In this study, we analyzed 5 SNPs (rs2317385, rs5918, rs15908, rs12603582, rs3809865) at the β3 integrin locus (ITGB3), which has been suggested as a possible susceptibility gene, both as single markers and as part of haplotypes in 209 ASD ch...

Due to their numerous roles in several biological processes, zinc and selenium are the most commonly studied micronutrients in the elderly Therefore, we hypothesized that the polymorphisms in the genes that are responsible for the transport of zinc and selenium may have a genotype-dependent effect on the serum concentration of these micronutrients....

Memory is an important cognition function, being fundamental to the development and independence of individuals. Our aim was to investigate the influence apolipoprotein E (APOE) and angiotensin I-converting enzyme (ACE) polymorphism and ACE inhibitors use, besides their interaction on memory performance of healthy subjects over 50 years. The sample...

INTRODUÇÃO A memória pode ser caracterizada como a aquisição, o armazenamento e a evocação de informações. Cada um destes processos é importante para a formação da memória, independente da classificação utilizada para avaliá-la. O princípio da investigação sobre os meca-nismos da memória data de mais de um século atrás, com Ebbinghaus (Izquierdo &...

Nutrigenetics is a new field with few studies in Latin America. Our aim is to investigate the way in which different genes related to the lipid profile influence the response to specific dietary habits. Eight polymorphisms on seven genes were investigated in a sample (n = 567) from Porto Alegre, RS, Brazil. All the volunteers completed a food diary...

Hypertriglyceridemia is an important independent risk factor for coronary artery diseases and is determined by a wide range of factors, both genetic and exogenous. The A5 apolipoprotein, which is associated with the synthesis and removal of triglycerides (TG), is encoded by the APOA5 gene. One of the polymorphisms of this gene that has been the foc...