Artigos e Materiais de Revistas Científicas - LIM/15

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https://observatorio.fm.usp.br/handle/OPI/3655

A coleção de Artigos e Materiais de Revistas Científicas engloba artigos originais, artigos de revisão, artigos de atualização, artigos técnicos, relatos de experiências, resenhas, ensaios, editoriais, cartas ao editor, debates, notas científicas e técnicas, depoimentos, entrevistas e pontos de vista. Consideram-se como artigos científicos originais os trabalhos redigidos para divulgação de informações e resultados sobre determinada pesquisa científica, publicados em periódico científico após avaliação por outros pesquisadores.

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Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia in middle-income countries
(2023) MUNCKHOF, Anita van de; BORHANI-HAGHIGHI, Afshin; AARON, Sanjith; KRZYWICKA, Katarzyna; KAMMEN, Mayte Sanchez van; CORDONNIER, Charlotte; KLEINIG, Timothy J.; FIELD, Thalia S.; POLI, Sven; LEMMENS, Robin; SCUTELNIC, Adrian; LINDGREN, Erik; DUAN, Jiangang; ARSLAN, Yildiz; GORP, Eric C. M. van; HOVINGA, Johanna A. Kremer; GUENTHER, Albrecht; JOOD, Katarina; TATLISUMAK, Turgut; PUTAALA, Jukka; HELDNER, Mirjam R.; ARNOLD, Marcel; SOUSA, Diana Aguiar de; WASAY, Mohammad; ARAUZ, Antonio; CONFORTO, Adriana Bastos; FERRO, Jose M.; COUTINHO, Jonathan M.
Background: Adenovirus-based COVID-19 vaccines are extensively used in low- and middle-income countries (LMICs). Remarkably, cases of cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) have rarely been reported from LMICs. Aims: We studied the frequency, manifestations, treatment, and outcomes of CVST-VITT in LMICs. Methods: We report data from an international registry on CVST after COVID-19 vaccination. VITT was classified according to the Pavord criteria. We compared CVST-VITT cases from LMICs to cases from high-income countries (HICs). Results: Until August 2022, 228 CVST cases were reported, of which 63 were from LMICs (all middle-income countries [MICs]: Brazil, China, India, Iran, Mexico, Pakistan, Turkey). Of these 63, 32 (51%) met the VITT criteria, compared to 103 of 165 (62%) from HICs. Only 5 of the 32 (16%) CVST-VITT cases from MICs had definite VITT, mostly because anti-platelet factor 4 antibodies were often not tested. The median age was 26 (interquartile range [IQR] 20-37) versus 47 (IQR 32-58) years, and the proportion of women was 25 of 32 (78%) versus 77 of 103 (75%) in MICs versus HICs, respectively. Patients from MICs were diagnosed later than patients from HICs (1/32 [3%] vs. 65/103 [63%] diagnosed before May 2021). Clinical manifestations, including intracranial hemorrhage, were largely similar as was intravenous immunoglobulin use. In-hospital mortality was lower in MICs (7/31 [23%, 95% confidence interval (CI) 11-40]) than in HICs (44/102 [43%, 95% CI 34-53], p = 0.039). Conclusions: The number of CVST-VITT cases reported from LMICs was small despite the widespread use of adenoviral vaccines. Clinical manifestations and treatment of CVST-VITT cases were largely similar in MICs and HICs, while mortality was lower in patients from MICs.
Association between APOE-ε4 allele and cognitive function is mediated by Alzheimer's disease pathology: a population-based autopsy study in an admixed sample
(2023) PARADELA, Regina Silva; JUSTO, Alberto Fernando Oliveira; PAES, Vitor Ribeiro; LEITE, Renata E. P.; PASQUALUCCI, Carlos A.; GRINBERG, Lea T.; NASLAVSKY, Michel Satya; ZATZ, Mayana; NITRINI, Ricardo; JACOB-FILHO, Wilson; SUEMOTO, Claudia Kimie
Background: Apolipoprotein E epsilon 4 allele (APOE-epsilon 4) is the main genetic risk factor for late-onset Alzheimer's disease (AD) and may impact cognitive function also via other neuropathological lesions. However, there is limited evidence available from diverse populations, as APOE associations with dementia seem to differ by race. Therefore, we aimed to evaluate the pathways linking APOE-epsilon 4 to cognitive abilities through AD and non-AD neuropathology in an autopsy study with an admixed sample.Methods: Neuropathological lesions were evaluated following international criteria using immunohistochemistry. Participants were classified into APOE-epsilon 4 carriers (at least one epsilon 4 allele) and non-carriers. Cognitive abilities were evaluated by the Clinical Dementia Rating Scale sum of boxes. Mediation analyses were conducted to assess the indirect association of APOE-epsilon 4 with cognition through AD-pathology, lacunar infarcts, hyaline arteriosclerosis, cerebral amyloid angiopathy (CAA), Lewy body disease (LBD), and TAR DNA-binding protein 43 (TDP-43).Results: We included 648 participants (mean age 75 +/- 12 years old, mean education 4.4 +/- 3.7 years, 52% women, 69% White, and 28% APOE-epsilon 4 carriers). The association between APOE-epsilon 4 and cognitive abilities was mediated by neurofibrillary tangles (beta = 0.88, 95% CI = 0.45; 1.38, p < 0.001) and neuritic plaques (beta = 1.36, 95% CI = 0.86; 1.96, p < 0.001). Lacunar infarcts, hyaline arteriosclerosis, CAA, LBD, and TDP-43 were not mediators in the pathway from APOE-epsilon 4 to cognition.Conclusion: The association between APOE-epsilon 4 and cognitive abilities was partially mediated by AD-pathology. On the other hand, cerebrovascular lesions and other neurodegenerative diseases did not mediate the association between APOE-epsilon 4 and cognition.
Biomarkers for dementia in Latin American countries: Gaps and opportunities
(2023) PARRA, Mario A.; ORELLANA, Paulina; LEON, Tomas; VICTORIA, Cabello G.; HENRIQUEZ, Fernando; GOMEZ, Rodrigo; AVALOS, Constanza; DAMIAN, Andres; SLACHEVSKY, Andrea; IBANEZ, Agustin; ZETTERBERG, Henrik; TIJMS, Betty M.; YOKOYAMA, Jennifer S.; PINA-ESCUDERO, Stefanie D.; COCHRAN, J. Nicholas; MATALLANA, Diana L.; ACOSTA, Daisy; ALLEGRI, Ricardo; ARIAS-SUAREZ, Bianca P.; BARRA, Bernardo; BEHRENS, Maria Isabel; BRUCKI, SoniaM. D.; BUSATTO, Geraldo; CARAMELLI, Paulo; CASTRO-SUAREZ, Sheila; CONTRERAS, Valeria; CUSTODIO, Nilton; DANSILIO, Sergio; CRUZ-PUEBLA, Myriam De la; SOUZA, Leonardo Cruz de; DIAZ, Monica M.; DUQUE, Lissette; FARIAS, Gonzalo A.; FERREIRA, Sergio T.; GUIMET, Nahuel Magrath; KMAID, Ana; LIRA, David; LOPERA, Francisco; MEZA, Beatriz Mar; MIOTTO, Eliane C.; NITRINI, Ricardo; NUNEZ, Alberto; O'NEILL, Santiago; OCHOA, John; PINTADO-CAIPA, Maritza; RESENDE, Elisa de Paula Franca; RISACHER, Shannon; ROJAS, Luz Angela; SABAJ, Valentina; SCHILLING, Lucas; SELLEK, Allis F.; SOSA, Ana; TAKADA, Leonel T.; TEIXEIRA, Antonio L.; UNAUCHO-PILALUMBO, Martha; DURAN-ANIOTZ, Claudia
Limited knowledge on dementia biomarkers in Latin American and Caribbean (LAC) countries remains a serious barrier. Here, we reported a survey to explore the ongoing work, needs, interests, potential barriers, and opportunities for future studies related to biomarkers. The results show that neuroimaging is the most used biomarker (73%), followed by genetic studies (40%), peripheral fluids biomarkers (31%), and cerebrospinal fluid biomarkers (29%). Regarding barriers in LAC, lack of funding appears to undermine the implementation of biomarkers in clinical or research settings, followed by insufficient infrastructure and training. The survey revealed that despite the above barriers, the region holds a great potential to advance dementia biomarkers research. Considering the unique contributions that LAC could make to this growing field, we highlight the urgent need to expand biomarker research. These insights allowed us to propose an action plan that addresses the recommendations for a biomarker framework recently proposed by regional experts.
The past, present and future of Alzheimer's disease - part 1: the past
(2023) NITRINI, Ricardo
Background Alzheimer's disease (AD) was described in 1907, and since then it changed from a relatively rare condition to one of the most prevalent diseases.Objective To describe the evolution of the notions of dementias and AD, and to investigate the reasons for the increase in scientific interest in AD.Methods A historical analysis was carried out on knowledge about dementia, the site of mental activity, the relationships between brain diseases and mental activity, and on the advances in research about AD, since its discovery until the publication of the amyloid cascade hypothesis in 1992. A search was carried out in the National Library of Medicine (PubMed) for scientific articles that included the terms dementia or AD over 50 years, from 1972 to 2021.Results The scientific research on AD increased from 615 papers with the term AD in the first decade (1972-1981), to 100,028 papers in the last decade (2012-2021): an increase of 162.6 times whereas publications with the term dementia increased 28.6 times in the same period. In the 1960s and 1970s, a consensus was reached that AD is responsible for the majority of cases of dementia previously known as senile dementia. In the 1980s, beta-amyloid peptide was identified in the core of the senile plaque, hyperphosphorylated tau protein was found in neurofibrillary tangles, and a mutation was discovered in a hereditary form of AD.Conclusion The expansion of the concept of AD to include senile dementia, and the discoveries that occurred in the 1980s greatly expanded research in AD.
Measurement of resistance-area product by transcranial Doppler: An alternative tool for cognitive screening in hypertensive on drug treatment?
(2023) MACHADO, Michel Ferreira; MUELA, Henrique Cotchi Simbo; COSTA-HONG, Valeria Aparecida; PANERAI, Ronney B.; YASSUDA, Monica S.; MORAES, Natalia Cristina; MEMORIA, Claudia Maia; BOR-SENG-SHU, Edson; NITRINI, Ricardo; BORTOLOTTO, Luiz Aparecido; NOGUEIRA, Ricardo de Carvalho
Introduction: Arterial hypertrophy and remodeling are adaptive responses present in systemic arterial hyper-tension that can result in silent ischemia and neurodegeneration, compromising brain connections and cognitive performance (CP). However, CP is affected differently over time, so traditional screening methods may become less sensitive in assessing certain cognitive domains. The study aimed to evaluate whether cerebrovascular he-modynamic parameters can serve as a tool for cognitive screening in hypertensive without clinically manifest cognitive decline.Methods: Participants were allocated into groups: non-hypertensive (n = 30) [group 1], hypertensive with sys-tolic blood pressure (SBP) < 140 and diastolic blood pressure (DBP) < 90 mmHg (n = 54) [group 2] and hy-pertensive with SBP >= 140 or DBP >= 90 (n = 31) [group 3]. Measurements of blood pressure and middle cerebral artery blood flow velocity were obtained from digital plethysmography and transcranial Doppler. For the cognitive assessment, the Mini Mental State Examination (MMSE), the Montreal Cognitive Assessment (MoCA) and a broad neuropsychological battery were applied.Results: Patients in groups 2 and 3 show no significant differences in most of the clinical-epidemiological vari-ables or pulsatility index (p = 0.361), however compared to group 1 and 2, patients in group 3 had greater resistance-area product [RAP] (1.7 [+/- 0.7] vs. 1.2 [+/- 0.2], p < 0.001). There was a negative correlation between RAP, episodic memory (r =-0.277, p = 0.004) and cognitive processing speed (r =-0.319, p = 0.001).Conclusion: RAP reflects the real cerebrovascular resistance, regardless of the direct action of antihypertensive on the microcirculation, and seems to be a potential alternative tool for cognitive screening in hypertensive.
A novel program of infiltrative control in astrocytomas: ADAM23 depletion promotes cell invasion by activating γ-secretase complex
(2023) JANDREY, Elisa Helena Farias; BARNABE, Gabriela Filoso; MALDAUN, Marcos; ASPRINO, Paula Fontes; SANTOS, Natalia Cristina dos; INOUE, Lilian Tiemi; ROZANSKI, Andrei; GALANTE, Pedro Alexandre Favoretto; MARIE, Suely Kazue Nagahashi; OBA-SHINJO, Sueli Mieko; SANTOS, Tiago Goss dos; CHAMMAS, Roger; LANCELLOTTI, Carmen Lucia Penteado; FURNARI, Frank B.; CAMARGO, Anamaria Aranha; COSTA, Erico Tosoni
Background. Infiltration is a life-threatening growth pattern in malignant astrocytomas and a significant cause of therapy resistance. It results in the tumor cell spreading deeply into the surrounding brain tissue, fostering tumor recurrence and making complete surgical resection impossible. We need to thoroughly understand the mechanisms underlying diffuse infiltration to develop effective therapies.Methods We integrated in vitro and in vivo functional assays, RNA sequencing, clinical, and expression information from public data sets to investigate the role of ADAM23 expression coupling astrocytoma's growth and motility.Results. ADAM23 downregulation resulted in increased infiltration, reduced tumor growth, and improved overall survival in astrocytomas. Additionally, we show that ADAM23 deficiency induces gamma-secretase (GS) complex activity, contributing to the production and deposition of the Amyloid-beta and release of NICD. Finally, GS ablation in ADAM23-low astrocytomas induced a significant inhibitory effect on the invasive programs.Conclusions. Our findings reveal a role for ADAM23 in regulating the balance between cell proliferation and invasiveness in astrocytoma cells, proposing GS inhibition as a therapeutic option in ADAM23 low-expressing astrocytomas.
Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon
(2023) SILVA, Thiago Yoshinaga Tonholo; MARQUES, Marcos Vinicius Oliveira; ZANOTELI, Edmar; PEDROSO, Jose Luiz; BARSOTTINI, Orlando Graziani Povoas
Clinical Prognostic Implications of Wnt Hub Genes Expression in Medulloblastoma
(2023) MARTINS-DA-SILVA, Andrea; BARONI, Mirella; SALOMAO, Karina Bezerra; CHAGAS, Pablo Ferreira das; BONFIM-SILVA, Ricardo; GERON, Lenisa; CRUZEIRO, Gustavo Alencastro Veiga; JR, Wilson Araujo da Silva; CORREA, Carolina Alves Pereira; JR, Carlos Gilberto Carlotti; QUEIROZ, Rosane Gomes de Paula; MARIE, Suely Kazue Nagahashi; BRANDALISE, Silvia Regina; YUNES, Jose Andres; SCRIDELI, Carlos Alberto; VALERA, Elvis Terci; TONE, Luiz Gonzaga
Medulloblastoma is the most common type of pediatric malignant primary brain tumor, and about one-third of patients die due to disease recurrence and most survivors suffer from long-term side effects. MB is clinically, genetically, and epigenetically heterogeneous and subdivided into at least four molecular subgroups: WNT, SHH, Group 3, and Group 4. We evaluated common differentially expressed genes between a Brazilian RNA-seq GSE181293 dataset and microarray GSE85217 dataset cohort of pediatric MB samples using bioinformatics methodology in order to identify hub genes of the molecular subgroups based on PPI network construction, survival and functional analysis. The main finding was the identification of five hub genes from the WNT subgroup that are tumor suppressors, and whose lower expression is related to a worse prognosis for MB patients. Furthermore, the common genes correlated with the five tumor suppressors participate in important pathways and processes for tumor initiation and progression, as well as development and differentiation, and some of them control cell stemness and pluripotency. These genes have not yet been studied within the context of MB, representing new important elements for investigation in the search for therapeutic targets, prognostic markers or for understanding of MB biology.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
(2023) PAIVA, Anderson Rodrigues Brandao de; PESSOA, Andre Luiz Santos; NOBREGA, Paulo Ribeiro; MORENO, Cristiane Araujo Martins; LYNCH, David S.; TANIGUTI, Lucas Mitsuo; KITAJIMA, Joao Paulo; FREUA, Fernando; DELLA-RIPA, Bruno; CUNHA, Paulina; BARCELOS, Isabella Peixoto de; MACEDO-SOUZA, Lucia Ines; TAKEUCHI, Carlos Augusto; GARCIA, Antonio Milton Silva; NARDES, Flavia; FONTAO, Ramiro; ANTONIUK, Sergio Antonio; TRONCOSO, Monica; SPECOLA, Norma; DURAND, Consuelo; MADEIRO, Bianca de Aguiar Coelho Silva; DORIQUI, Maria Juliana Rodovalho; VERGARA, Diane; HOULDEN, Henry; KOK, Fernando
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
(2023) NOBREGA, Paulo R.; PAIVA, Anderson R. B. de; SOUZA, Katiane S.; SOUZA, Jorge Luiz B. de; LIMA, Pedro Lucas G. S. B.; SILVA, Delson Jose da; PITOMBEIRA, Milena Sales; BORGES, Viviennee K.; DIAS, Daniel A.; BISPO, Luciana M.; SANTOS, Carolina F.; FREUA, Fernando; SILVA, Paulo Diego S.; ALVES, Isabela S.; PORTELLA, Leonardo B.; CUNHA, Paulina R.; SALOMAO, Rubens Paulo A.; PEDROSO, Jose Luiz; MIYAJIMA, Veridiana P.; MIYAJIMA, Fabio; CALI, Elisa; WADE, Charles; SUDARSANAM, Annapurna; O'DRISCOLL, Mary; HAYTON, Tom; BARSOTTINI, Orlando G. P.; KLEBE, Stephan; KOK, Fernando; LUCATO, Leandro Tavares; HOULDEN, Henry; DEPIENNE, Christel; LYNCH, David S.; BRAGA-NETO, Pedro
Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia, headache, spasticity, seizures and other symptoms with a broad range of age of onset. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures, severe spastic paraplegia and developmental delay. Nobrega et al. describe 12 additional CLCN2 leucoencephalopathy patients expanding the phenotypic spectrum by adding prominent seizures, severe spastic paraplegia and developmental delay. All patients demonstrated typical MRI changes. They found three novel missense variants. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy. Graphical abstract
Encephalopathy Caused by Human Parvovirus B19 Genotype 1 Associated with Haemophilus influenzae Meningitis in a Newborn
(2023) FERREIRA, Noely Evangelista; COSTA, Antonio C. da; KALLAS, Esper G.; SILVEIRA, Cassia G. T.; OLIVEIRA, Ana Carolina S. de; HONORATO, Layla; PAIAO, Heuder G. O.; LIMA, Silvia H.; VASCONCELOS, Dewton de M.; CORTES, Marina F.; COSTA, Silvia F.; MENDOZA, Tania R. T.; GOMES, Helio R.; WITKIN, Steven S.; MENDES-CORREA, Maria C.
Parvovirus B19 infection is associated with a wide range of clinical manifestations, from asymptomatic to severe neurological disorders. Its major clinical symptoms, fever and rash, are common to multiple viruses, and laboratory tests to detect B19 are frequently not available. Thus, the impact of B19 on public health remains unclear. We report the case of a 38-day old girl admitted to Sao Paulo Clinical Hospital, Brazil, with an initial diagnosis of bacterial meningitis, seizures, and acute hydrocephalus. Antibiotic therapy was maintained for one week after admission and discontinued after negative laboratory results were obtained. Nine days after symptoms onset, a cerebral spinal fluid (CSF) sample revealed persistent pleocytosis. The complete B19 complete genome was subsequently identified in her CSF by a metagenomic next-generation sequencing approach. This report highlights the possible involvement of B19 in the occurrence of acute neurological manifestations and emphasizes that its possible involvement might be better revealed by the use of metagenomic technology to detect viral agents in clinical situations of unknown or uncertain etiology.
Risk factors for dementia in Brazil: Differences by region and race
(2023) SUEMOTO, Claudia K.; MUKADAM, Naaheed; BRUCKI, Sonia M. D.; CARAMELLI, Paulo; NITRINI, Ricardo; LAKS, Jerson; LIVINGSTON, Gill; FERRI, Cleusa P.
Introduction Twelve risk factors (RFs) account for 40% of dementia cases worldwide. However, most data for population attributable fractions (PAFs) are from high-income countries (HIC). We estimated how much these RFs account for dementia cases in Brazil, stratifying estimates by race and socioeconomic level. Methods We calculated the prevalence and communalities of 12 RFs using 9412 Brazilian Longitudinal Study of Aging participants, then stratified according to self-reported race and country macro-regions. Results The overall weighted PAF was 48.2%. Less education had the largest PAF (7.7%), followed by hypertension (7.6%), and hearing loss (6.8%). PAF was 49.0% and 54.0% in the richest and poorest regions, respectively. PAFs were similar among White and Black individuals (47.8% and 47.2%, respectively) but the importance of the main RF varied by race. Discussion Brazil's potential for dementia prevention is higher than in HIC. Education, hypertension, and hearing loss should be priority targets.
Direct oral anticoagulants for the treatment of cerebral venous thrombosis - a protocol of an international phase IV study
(2023) MUNCKHOF, Anita van de; KAMMEN, Mayte Sanchez van; KRZYWICKA, Katarzyna; AARON, Sanjith; SOUSA, Diana Aguiar de; ANTOCHI, Florina; ARAUZ, Antonio; BARBOZA, Miguel A.; CONFORTO, Adriana B.; DENTALI, Francesco; CONTRERAS, Daniel Galdames; JI, Xunming; JOOD, Katarina; HELDNER, Mirjam R.; HERNANDEZ-PEREZ, Maria; KAM, Wayneho; KLEINIG, Timothy J.; KRISTOFFERSEN, Espen S.; LEKER, Ronen R.; LEMMENS, Robin; POLI, Sven; YESILOT, Niluefer; WASAY, Mohammad; WU, Teddy Y.; ARNOLD, Marcel; LUCAS-NETO, Lia; MIDDELDORP, Saskia; PUTAALA, Jukka; TATLISUMAK, Turgut; FERRO, Jose M.; COUTINHO, Jonathan M.; DOAC-CVT Study Grp
Introduction: Current guidelines recommend that patients with cerebral venous thrombosis (CVT) should be treated with vitamin K antagonists (VKAs) for 3-12 months. Direct oral anticoagulants (DOACs), however, are increasingly used in clinical practice. An exploratory randomized controlled trial including 120 patients with CVT suggested that the efficacy and safety profile of dabigatran (a DOAC) is similar to VKAs for the treatment of CVT, but large-scale prospective studies from a real-world setting are lacking.Methods: DOAC-CVT is an international, prospective, observational cohort study comparing DOACs to VKAs for the prevention of recurrent venous thrombotic events after acute CVT. Patients are eligible if they are 18 years or older, have a radiologically confirmed CVT, and have started oral anticoagulant treatment (DOAC or VKA) within 30 days of CVT diagnosis. Patients with an absolute contra-indication for DOACs, such as pregnancy or severe renal insufficiency, are excluded from the study. We aim to recruit at least 500 patients within a three-year recruitment period. The primary endpoint is a composite of recurrent venous thrombosis and major bleeding at 6 months of follow-up. We will calculate an adjusted odds ratio for the primary endpoint using propensity score inverse probability treatment weighting.Discussion: DOAC-CVT will provide real-world data on the comparative efficacy and safety of DOACs versus VKAs for the treatment of CVT.
White Matter Integrity and Chronic Poststroke Upper Limb Function: An ENIGMA Stroke Recovery Analysis
(2023) DOMIN, Martin; HORDACRE, Brenton; HOK, Pavel; BOYD, Lara A.; CONFORTO, Adriana B.; ANDRUSHKO, Justin W.; BORICH, Michael R.; CRADDOCK, Richard C.; DONNELLY, Miranda R.; DULA, Adrienne N.; WARACH, Steven J.; KAUTZ, Steven A.; LO, Bethany P.; SCHRANZ, Christian; SEO, Na Jin; SRIVASTAVA, Shraddha; WONG, Kristin A.; ZAVALIANGOS-PETROPULU, Artemis; THOMPSON, Paul M.; LIEW, Sook-Lei; LOTZE, Martin
BACKGROUND:Integrity of the corticospinal tract (CST) is an important biomarker for upper limb motor function following stroke. However, when structurally compromised, other tracts may become relevant for compensation or recovery of function.METHODS:We used the ENIGMA Stroke Recovery data set, a multicenter, retrospective, and cross-sectional collection of patients with upper limb impairment during the chronic phase of stroke to test the relevance of tracts in individuals with less and more severe (laterality index of CST fractional anisotropy & GE;0.25) CST damage in an observational study design. White matter integrity was quantified using fractional anisotropy for the CST, the superior longitudinal fascicle, and the callosal fibers interconnecting the primary motor cortices between hemispheres. Optic radiations served as a control tract as they have no a priori relevance for the motor system. Pearson correlation was used for testing correlation with upper limb motor function (Fugl-Meyer upper extremity).RESULTS:From 1235 available data sets, 166 were selected (by imaging, Fugl-Meyer upper extremity, covariates, stroke location, and stage) for analyses. Only individuals with severe CST damage showed a positive association of fractional anisotropy in both callosal fibers interconnecting the primary motor cortices (r[21]=0.49; P=0.025) and superior longitudinal fascicle (r[21]=0.51; P=0.018) with Fugl-Meyer upper extremity.CONCLUSIONS:Our data support the notion that individuals with more severe damage of the CST depend on residual pathways for achieving better upper limb outcome than those with less affected CST.
The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States
(2023) SIMON, Sharon Sanz; BRUCKI, Sonia Maria Dozzi; FONSECA, Luciana Mascarenhas; BECKER, Jacqueline; CAPPI, Carolina; MARQUES, Andrea Horvath; HEYN, Patricia C.; GONCALVES, Priscila Dib; MARTINS, Silvia S.; BUSATTO, Geraldo; SUEMOTO, Claudia Kimie; NITRINI, Ricardo; CARAMELLI, Paulo; YASSUDA, Monica Sanches; MIOTTO, Eliane Correa; GRINBERG, Lea Tenenholz; RENTERIA, Miguel Arce; ALEGRIA, Margarita; STERN, Yaakov; RIVERA-MINDT, Monica; BERTOLA, Laiss
Introduction: The Brazilian population in the United States (U.S.), a Latinx subgroup, is rapidly growing and aging but remains underrepresented in U.S. health research. In addition to group-specific genetic and environmental risks, Brazilian immigrants and their offspring in the U.S. likely have cumulative risks for health inequities. It is estimated that 71% of Brazilian immigrants in the U.S. are undocumented, which may limit healthcare access/utilization. Furthermore, mental health is reported as a health priority by Brazilian immigrants in the U.S., and there is a lack of research on Alzheimer's disease and related dementia (AD/ADRD) in this population.Methods: We reviewed the scientific literature using traditional (e.g., PubMed) sources and databases generated by U.S. and Brazilian governments, as well as international organizations, and press articles.Results: This perspective review lists recommendations for researchers, health providers, and policymakers to promote greater inclusion of U.S. Brazilian populations in health research and care. The review identifies research areas in need of attention to address health inequities and promote mental/brain health in Brazilian immigrants and their offspring living in the U.S. These research areas are: 1) epidemiological studies to map the prevalence and incidence of mental/brain health conditions; 2) research on aging and AD/ADRD risk factors among Brazilian populations in the U.S.; and 3) the need for greater representation of U.S-residing Brazilian population in other relevant research areas involving genetics, neuropathology, and clinical trials.Conclusions: The recommendation and research efforts proposed should help to pave the way for the development of community-engagement research and to promote mental/brain health education, improvement of mental/brain health and AD/ADRD services, and the development of culturally-informed intervention to the U.S.-residing Brazilian communities.
The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States ( vol 9, e12425, 2023)
(2023) SIMON, Sharon Sanz; BRUCKI, Sonia Maria Dozzi; FONSECA, Luciana Mascarenhas; BECKER, Jacqueline; CAPPI, Carolina; MARQUES, Andrea Horvath; HEYN, Patricia C.; GONCALVES, Priscila Dib; MARTINS, Silvia S.; BUSATTO, Geraldo; BERTOLA, Laiss; SUEMOTO, Claudia Kimie; NITRINI, Ricardo; CARAMELLI, Paulo; YASSUDA, Monica Sanches; MIOTTO, Eliane Correa; GRINBERG, Lea Tenenholz; RENTERIA, Miguel Arce; ALEGRIA, Margarita; STERN, Yaakov; RIVERA-MINDT, Monica
Stroke in vascular Ehlers-Danlos syndrome
(2023) MARTINS, Rebecca Ranzani; PAIVA, Mauricio Leonardo da Silva; TEIXEIRA, Weverton Carlos da Silva; KAWAHIRA, Rachel Sayuri Honjo; FREUA, Fernando; CASTRO, Matheus Augusto Araujo; KIM, Chong Ae; KOK, Fernando
Predicting Dementia Due to Alzheimer's Disease and Behavioral Variant Frontotemporal Dementia Using Algorithms with the Addenbrooke's Cognitive Examination-Revised Subscores Combined with Sociodemographic Factors
(2023) AMARAL-CARVALHO, Viviane; LIMA-SILVA, Thais Bento; MARIANO, Luciano Inacio; SOUZA, Leonardo Cruz de; GUIMARAES, Henrique Cerqueira; BAHIA, Valeria Santoro; NITRINI, Ricardo; BARBOSA, Maira Tonidandel; YASSUDA, Monica Sanches; CARAMELLI, Paulo
Background: Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD) are important causes of dementia with challenging differential diagnoses in many cases. Addenbrooke's Cognitive Examination-Revised (ACE-R) is a cognitive battery that may be useful to differentiate the two disorders.Objective: The objectibe of this study is to investigate the value of the ACE-R combined with sociodemographic factors in the differential diagnosis between AD and bvFTD.Methods The ACE-R was administered to 102 patients with mild dementia due to probable AD, 37 with mild bvFTD, and 135 controls. Performances of patients and controls were analyzed by logistic regression and by ROC curves to refine the diagnostic accuracy of the ACE-R in AD and bvFTD.Results: The ACE-R subscores Attention and Orientation, Fluency, and Memory, in combination with schooling differentiated AD from controls with an area under the ROC curve (AUC) of 0.936 (86% sensitivity and 87% specificity). The ACE-R subscores Attention and Orientation, Fluency, and Language, in combination with sex (male), age, and schooling, discriminated bvFTD from controls with an AUC of 0.908 (81% sensitivity and 95% specificity). In the differentiation between AD and bvFTD, the ACE-R subscores Attention and Orientation, Fluency, and Language, together with age, displayed an AUC of 0.865 (78% sensitivity and 85% specificity).Conclusion: The combination of ACE-R scores with sociodemographic data allowed good differentiation between AD and bvFTD in the study sample.
Musashi-1 regulates cell cycle and confers resistance to cisplatin treatment in Group 3/4 medulloblastomas cells
(2023) CHAGAS, Pablo Shimaoka; VERONEZ, Luciana Chain; SOUSA, Graziella Ribeiro de; CRUZEIRO, Gustavo Alencastro Veiga; CORREA, Carolina Alves Pereira; SAGGIORO, Fabiano Pinto; QUEIROZ, Rosane Gomes de Paula; MARIE, Suely Kazue Nagahashi; BRANDALISE, Silvia Regina; CARDINALLI, Izilda Aparecida; YUNES, Jose Andres; CARLOTTI, Carlos Gilberto; MACHADO, Helio Rubens; SANTOS, Marcelo Volpon; SCRIDELI, Carlos Alberto; TONE, Luiz Gonzaga; VALERA, Elvis Terci
Groups (Grp) 3 and 4 are aggressive molecular subgroups of medulloblastoma (MB), with high rates of leptomeningeal dissemination. To date, there is still a paucity of biomarkers for these subtypes of MBs. In this study, we investigated the clinical significance and biological functions of Musashi-1 (MSI1) in Grp3 and Grp4-MBs. First, we assessed the expression profile of MSI1 in 59 primary MB samples (15-WNT, 18-SHH, 9-Grp3, and 17-Grp4 subgroups) by qRT-PCR. MSI1 mRNA expression levels were also validated in an additional public dataset of MBs (GSE85217). The ROC curve was used to validate the diagnostic standards of MSI1 expression. Next, the potential correlated cell-cycle genes were measured by RNA-Seq. Cell cycle, cell viability, and apoptosis were evaluated in a Grp3/Grp4 MB cell line after knockdown of MSI1 and cisplatin treatment. We identified an overexpression of MSI1 with a high accuracy to discriminate Grp3/Grp4-MBs from non-Grp3/Grp4-MBs. We identified that MSI1 knockdown not only triggered transcriptional changes in the cell-cycle pathway, but also affected G2/M phase in vitro, supporting the role of knockdown of MSI1 in cell-cycle arrest. Finally, MSI1 knockdown decreased cell viability and sensitized D283-Med cells to cisplatin treatment by enhancing cell apoptosis. Based on these findings, we suggest that MSI1 modulates cell-cycle progression and may play a role as biomarker for Grp3/Grp4-MBs. In addition, MSI1 knockdown combined with cisplatin may offer a potential strategy to be further explored in Grp3/Grp4-MBs.
A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype
(2023) ROCHA, Emanuelle Bianchi da Silva; RODRIGUES, Ketteny de Lima; MONTOURO, Laura Alonso Matheus; COELHO, erica Nogueira; KOUYOUMDJIAN, Joao Aris; KOK, Fernando; NOBREGA, Paulo Ribeiro; GRACA, Carla Renata; MORITA, Maria da Penha Ananias; ESTEPHAN, Eduardo de Paula
Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and weakness of arm abduction and neck flexion. Investigation evidenced mild serum creatine kinase increase and glucose intolerance; second-degree atrioventricular block; mild mixed type respiratory disorder and atrophy and granular appearance of the retinal pigment epithelium. Brain magnetic resonance showed cerebellar atrophy. Muscle biopsy was compatible with mitochondrial myopathy. Genetic panel revealed a homozygous pathogenic variant in the MGME1 gene, consistent with MTDPS11 (c.862C > T; p.Gln288 *). This case of MTDPS11 can contribute to the phenotypic characterization of this ultra-rare mitochondrial disorder, presenting milder respiratory and nutritional involvement than the previously reported cases, with possible additional features.(c) 2023 Elsevier B.V. All rights reserved.

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