Arquivos de neuro-psiquiatria最新文献

{"title":"Performance of a cost-effective olfactory test to evaluate hyposmia in Parkinson's disease patients.","authors":"Josevânia Fulgêncio de Lima Arruda, Liene Duarte Silva, Rodrigo Tavares Brisson, Gabriel de Castro Micheli, Marco Antônio Sales Dantas de Lima, Ana Lucia Zuma de Rosso, Rita de Cássia Leite Fernandes","doi":"10.1055/s-0044-1787139","DOIUrl":"https://doi.org/10.1055/s-0044-1787139","url":null,"abstract":"<p><strong>Background: </strong> Parkinson's disease (PD) causes motor and non-motor symptoms such as hyposmia, which is evaluated through olfactory tests in the clinical practice.</p><p><strong>Objective: </strong> To assess the feasibility of using the modified Connecticut Chemosensory Clinical Research Center (mCCCRC) olfactory test and to compare its performance with the Sniffin' Sticks-12 (SS-12, Burghart Messtechnik GmbH, Wedel, Germany) test.</p><p><strong>Methods: </strong> A transversal case-control study in which the patients were divided into the PD group (PDG) and the control group (CG). The cost and difficulty in handling substances to produce the mCCCRC test kits were evaluated. Sociodemographic characteristics, smoking habits, past coronavirus disease 2019 (COVID-19) infections, self-perception of odor sense, and cognition through the Montreal Cognitive Assessment (MoCA) were also evaluated. The PDG was scored by part III of the Unified Parkinson's Disease Rating Scale (UPDRS-III) and the Hoehn and Yahr Scale (H&Y) scale. Correlations were assessed through the Spearman rank correlation coefficient test (ρ, or rho).</p><p><strong>Results: </strong> The mCCCRC test was easily manufactured and handled at a cost ten times lower compared with the SS-12. The groups (PDG: <i>n</i> = 34; CG: <i>n</i> = 38) were similar in terms of age, sex, level of schooling, smoking habits, and history of COVID-19. The tests results showed moderate correlation (rho = 0.65; <i>p</i> < 0.0001). The CG presented better cognitive performance and scored better in both tests (<i>p</i> < 0.0001). There was a tendency for a negative correlation with age, but good correlation with the MoCA (<i>p</i> = 0.0029). The results of the PDG group showed no correlation with olfactory results and motor performance or disease duration. The self-perception of hyposmia was low in both groups.</p><p><strong>Conclusion: </strong> The mCCCRC is an easy-to-apply and inexpensive method that demonstrated a similar performance to that of the SS-12 in evaluating olfaction in PD patients and healthy controls.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-6"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141173724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases.","authors":"Marta Mitiko Deguti, Fabiana Cordeiro Araujo, Débora Raquel Benedita Terrabuio, Thiago Ferreira Araujo, Egberto Reis Barbosa, Gilda Porta, Eduardo Luiz Rachid Cançado","doi":"10.1055/s-0044-1786855","DOIUrl":"https://doi.org/10.1055/s-0044-1786855","url":null,"abstract":"<p><strong>Background: </strong> Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.</p><p><strong>Objective: </strong> To describe the diagnostic features and response to treatment in our cohort of WD patients.</p><p><strong>Methods: </strong> This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, <i>ATP7B</i> genotyping, and response to treatment.</p><p><strong>Results: </strong> Symptoms occurred at an average age of 17.4 (7-49) years, and patients were followed up for an average of 9.6 (0-45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the <i>ATP7B</i> gene were detected in 84.4% of alleles. Brain magnetic resonance imaging showed abnormalities in the basal ganglia in 77.7% of patients. D-penicillamine was the first choice in 93.6% of the 245 patients, and 21.1% of these patients were switched due to adverse effects. The second-line therapies were zinc and trientine. The therapeutic response did not differ significantly between the drugs (<i>p</i> = 0.2). Nine patients underwent liver transplantation and 82 died.</p><p><strong>Conclusion: </strong> Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include <i>ATP7B</i> genotyping and therapeutic alternatives in clinical practice.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-9"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141173757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunohistochemical and histopathological analyses of cutaneous innervation to improve the diagnostic efficacy in hansen disease skin lesion.","authors":"Eduardo Alves Freire da Costa, Thaís Porto Amadeu, Ximena Illarramendi, Bernardo Pascarelli, José Augusto da Costa Nery, Anna Maria Sales, Sérgio Luiz Gomes Antunes","doi":"10.1055/s-0044-1787136","DOIUrl":"https://doi.org/10.1055/s-0044-1787136","url":null,"abstract":"<p><strong>Background: </strong> The diagnosis of Hansen disease (HD) can be difficult when acid-fast bacilli are not detected in the patient's skin sample.</p><p><strong>Objective: </strong> To demonstrate that detailed morphological analysis of nonspecific inflammatory and/or noninflammatory alterations in dermal nerves as well as skin adnexa in leprosy-suspected biopsy samples could improve the efficacy of histopathological diagnosis.</p><p><strong>Methods: </strong> Patients with one to five skin lesions were enrolled in the study and classified into three groups by skin histopathology findings: Hansen disease (HD, <i>n</i> = 13), other diseases (OD, <i>n</i> = 11), and inconclusive cases (INC, <i>n</i> = 11). We quantified dermal nerve damage via the nerve lesion index (NLI) and PGP9.5-immunoreactive axon quantitative index in dermal nerves (AQI). We also measured inflammatory involvement of adnexa in cutaneous samples as indirect evidence of HD.</p><p><strong>Results: </strong> We observed a higher median endoneurial inflammatory infiltrate NLI (HD = 0.5; INC = 0; OD = 0; <i>p</i> < 0.001) and more frequent inflammatory involvement of skin adnexa in samples of the HD group compared with those of the INC and OD groups (HD = 7; INC = 1; OD = 0). However, samples from the INC and OD groups also showed inflammatory and noninflammatory damage of dermal nerves, with 2 or more kinds of alterations in nerves in the same sample (respectively: INC = in 1 and 2 samples; OD = in 3 and 5 respectively). The quantification of PGP9.5-immunoreactive axons in dermal nerves revealed no difference between the groups.</p><p><strong>Conclusion: </strong> A detailed morphological analysis of cutaneous nerves in lesions with a suspicion of HD enabled us to select patients with nonspecific inflammatory or non-inflammatory lesions in the dermal nerves in the INC and OD groups, so they may be clinically monitored aiming at a possible future diagnosis of the disease. These INC and OD patients cannot have the HD diagnosis definitely excluded, and HD may coexist with another disease as a comorbidity.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-10"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141282839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum.","authors":"","doi":"10.1055/s-0044-1786527","DOIUrl":"10.1055/s-0044-1786527","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141282838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammatory biomarkers are correlated with thrombus burden in cerebral venous sinus thrombosis.","authors":"Aslı Yaman Kula, Ahmet Volkan Kurtoğlu, Vildan Güzel, Serdar Balsak, Ayşegül Yabacı Tak, Talip Asil","doi":"10.1055/s-0044-1787137","DOIUrl":"https://doi.org/10.1055/s-0044-1787137","url":null,"abstract":"<p><strong>Background: </strong> Increasing evidence suggests that inflammatory biomarkers play a significant role in cerebral venous sinus thrombosis (CVST). The neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR) are related to thrombotic conditions and indicators of systemic inflammation.</p><p><strong>Objective: </strong> To analyze the correlation between inflammatory biomarkers and the extent of thrombus, determined by the CVST-Score.</p><p><strong>Methods: </strong> A total of 40 patients with CVST (24 female subjects; 60%) and 40 age- and sex-matched healthy controls were retrospectively evaluated. Inflammatory biomarkers, including C-reactive protein (CRP), PLR, NLR, MLR, and the CVST-Score, were recorded to assess the relationship between biomarkers and thrombus burden. The patients were grouped according to symptom duration (group 1: 0-3 days; group 2: 4-7 days; and group 3: 8-30 days) to compare biomarker levels.</p><p><strong>Results: </strong> The CRP, NLR, and PLR were significantly higher in the CVST group (<i>p</i> < 0.001; <i>p</i> = 0.003; <i>p</i> = 0.014 respectively). The NLR and PLR presented a significant positive correlation with the CVST-Score (<i>p</i> = 0.003, r = 0.464; <i>p</i> = 0.040, r = 0.326 respectively). The NLR was significantly higher in group 1 compared with groups 2 and 3 (<i>p</i> = 0.016 and <i>p</i> = 0.014 respectively). In group 1, there was a stronger positive correlation between the CVST-Score and the NLR (<i>p</i> = 0.026, r = 0.591) and the PLR (<i>p</i> = 0.012, r = 0.648). The multiple linear regression analysis revealed that the NLR is a key factor in predicting the CVST-Score (<i>p</i> = 0.019).</p><p><strong>Conclusion: </strong> The NLR and PLR are associated with thrombus burden in CVST, especially in patients admitted to the hospital in the early stages. The NLR is an independent factor to predict the thrombus burden in CVST.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-8"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141173721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Desenvolvimento de kinky hair na doença de Menkes.","authors":"Hannah A Oppenheim, Maria A Montenegro","doi":"10.1055/s-0044-1786761","DOIUrl":"10.1055/s-0044-1786761","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11090648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140915909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.","authors":"Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira","doi":"10.1055/s-0044-1786854","DOIUrl":"10.1055/s-0044-1786854","url":null,"abstract":"<p><strong>Background: </strong> Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the <i>TPP1</i> gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2. Epilepsy is a common and clinically-identifiable feature among NCLs, and seizure onset is the main driver for families to seek medical care.</p><p><strong>Objective: </strong> To evaluate the results of the Latin America Epilepsy and Genetics Program, an epilepsy gene panel, as a comprehensive tool for the investigation of CLN2 among other genetic causes of epilepsy.</p><p><strong>Methods: </strong> A total of 1,284 patients with epilepsy without a specific cause who had at least 1 symptom associated with CLN2 were screened for variants in 160 genes associated with epilepsy or metabolic disorders presenting with epilepsy through an epilepsy gene panel.</p><p><strong>Results: </strong> Variants of the <i>TPP1</i> gene were identified in 25 individuals (1.9%), 21 of them with 2 variants. The 2 most frequently reported variants were p.Arg208* and p.Asp276Val, and 2 novel variants were detected in the present study: p.Leu308Pro and c.89 + 3G > C Intron 2.</p><p><strong>Conclusion: </strong> The results suggest that these genetic panels can be very useful tools to confirm or exclude CLN2 diagnosis and, if confirmed, provide disease-specific treatment for the patients.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-8"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurogenesis and pesticides: news of no new neurons.","authors":"Fulvio A Scorza, Antonio-Carlos G de Almeida, Ana C Fiorini, Feres Chaddad-Neto, Josef Finsterer","doi":"10.1055/s-0044-1786853","DOIUrl":"10.1055/s-0044-1786853","url":null,"abstract":"<p><p>New hippocampal neurons are continuously generated in the adult human brain. Several studies have demonstrated that the proliferation of hippocampal cells is strongly influenced by a variety of stimuli, including pesticides exposure. These effects are particularly important because neurogenesis dysregulation could be associated with the decline of neuronal and cognitive functions and the possible development of neuropsychiatric disorders.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 5","pages":"1-5"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply.","authors":"Leonardo Furtado Freitas, Eduardo Carvalho Miranda, Thelma Ribeiro Noce, Aline Pimentel Amaro, Márcio Luís Duarte","doi":"10.1055/s-0044-1786025","DOIUrl":"https://doi.org/10.1055/s-0044-1786025","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 4","pages":"1"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11014754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tailoring and personalizing deep brain stimulation for Parkinson's disease.","authors":"Rubens Gisbert Cury, Carina França","doi":"10.1055/s-0044-1786823","DOIUrl":"10.1055/s-0044-1786823","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 4","pages":"1-2"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}