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1.
Schizophr Res ; 270: 44-56, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38851167

RESUMO

INTRODUCTION: The etiology of schizophrenia (SCZ), an incredibly complex disorder, remains multifaceted. Literature suggests the involvement of oxidative stress (OS) in the pathophysiology of SCZ. OBJECTIVES: Determination of selected OS markers and brain-derived neurotrophic factor (BDNF) in patients with chronic SCZ and those in states predisposing to SCZ-first episode psychosis (FP) and ultra-high risk (UHR). MATERIALS AND METHODS: Determination of OS markers and BDNF levels by spectrophotometric methods and ELISA in 150 individuals (116 patients diagnosed with SCZ or in a predisposed state, divided into four subgroups according to the type of disorder: deficit schizophrenia, non-deficit schizophrenia, FP, UHR). The control group included 34 healthy volunteers. RESULTS: Lower activities of analyzed antioxidant enzymes and GSH and TAC concentrations were found in all individuals in the study group compared to controls (p < 0.001). BDNF concentration was also lower in all groups compared to controls except in the UHR subgroup (p = 0.01). Correlations were observed between BDNF, R-GSSG, GST, GPx activity, and disease duration (p < 0.02). A small effect of smoking on selected OS markers was also noted (rho<0.06, p < 0.03). CONCLUSIONS: OS may play an important role in the pathophysiology of SCZ before developing the complete clinical pattern of the disorder. The redox imbalance manifests itself with such severity in individuals with SCZ and in a state predisposing to the development of this psychiatric disease that natural antioxidant systems become insufficient to compensate against it completely. The discussed OS biomarkers may support the SCZ diagnosis and predict its progression.

2.
BMC Psychiatry ; 24(1): 473, 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38937731

RESUMO

BACKGROUND: There is conflicting evidence on impulsivity and its potential relationship with inhibitory control in schizophrenia. This study therefore aimed to identify differences in impulsivity and cognitive and motor inhibition between patients with deficit (DS) and non-deficit (NDS) schizophrenia and healthy controls (HC). We also explored the relationships between impulsivity and different dimensions of inhibitory control in all studied groups. METHODS: The sample comprised 28 DS patients, 45 NDS patients, and 39 age-matched HC. A neuropsychological battery was used. RESULTS: DS patients scored lower in venturesomeness, while those with NDS scored higher in impulsiveness compared to HC. In addition, both groups of patients scored higher on measures of cognitive and motor inhibition, including those relatively independent of information processing speed (although the results were slightly different after adjusting for IQ and/or years of education). Correlations between impulsivity and cognitive inhibition emerged in DS patients, while links between impulsivity and motor inhibition were observed in HC. CONCLUSIONS: Our results suggest the presence of deficits in experimentally assessed inhibitory control in schizophrenia patients, with predominant impulsivity in the NDS population. In addition, impulsivity may affect the cognitive control of inhibition in deficit schizophrenia. Nevertheless, due to the preliminary nature of these findings, they require further empirical verification in future research.


Assuntos
Comportamento Impulsivo , Inibição Psicológica , Esquizofrenia , Psicologia do Esquizofrênico , Humanos , Comportamento Impulsivo/fisiologia , Masculino , Feminino , Adulto , Esquizofrenia/fisiopatologia , Esquizofrenia/complicações , Testes Neuropsicológicos , Pessoa de Meia-Idade , Estudos de Casos e Controles
3.
J Psychiatr Res ; 175: 108-117, 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38728913

RESUMO

BACKGROUND: Schizophrenia is associated with chronic subclinical inflammation and decreased integrity of the corpus callosum (CC). Our previous study showed associations between peripheral IL-6 levels and the integrity of the CC. Epigenetic studies show associations between methylation of the genes related to immunological processes and integrity of the CC. AIM: To investigate correlations between methylation status of IL-6 promotor and peripheral IL-6 levels and the integrity of the CC in schizophrenia. MATERIAL AND METHODS: The participants were 29 chronic schizophrenia patients (SCH) and 29 controls. Decreased integrity of the CC was understood as increased mean diffusivity (MD) and/or decreased fractional anisotropy (FA) in diffusion tensor imaging. Peripheral IL-6 concentrations were measured in serum samples and IL-6 promoter methylation status of 6 CpG sites was analyzed in peripheral leukocytes by pyrosequencing. RESULTS: Moderate positive correlations were found between CpG1 methylation and the MD of proximal regions of the CC (CCR1-CCR3) and between CpGmean and MD of CCR1 in SCH. Weaker positive correlations were found for CpGmean with CCR2 and CCR3 and negative correlations were found for CpG1 and FA of CCR3 in SCH. Multivariate regression showed that methylation of CpG1, type of antipsychotic treatment, and their interaction were significant independent predictors of MD of CCR1 in SCH. Methylation of CpG2 was negatively correlated with serum IL-6 in SCH. CONCLUSIONS: The methylation level of the IL-6 promotor region in peripheral leukocytes is associated with the integrity of the CC in schizophrenia and this association may depend on the type of antipsychotic treatment. Further studies are necessary to explain the mechanisms of the observed associations.

4.
Neurosurg Rev ; 47(1): 144, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38594575

RESUMO

Recent studies suggest that differential DNA methylation could play a role in the mechanism of cerebral vasospasm (CVS) and delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage (aSAH). Considering the significance of this matter and a lack of effective prophylaxis against DCI, we aim to summarize the current state of knowledge regarding their associations with DNA methylation and identify the gaps for a future trial. PubMed MEDLINE, Scopus, and Web of Science were searched by two authors in three waves for relevant DNA methylation association studies in DCI after aSAH. PRISMA checklist was followed for a systematic structure. STROBE statement was used to assess the quality and risk of bias within studies. This research was funded by the National Science Centre, Poland (grant number 2021/41/N/NZ2/00844). Of 70 records, 7 peer-reviewed articles met the eligibility criteria. Five studies used a candidate gene approach, three were epigenome-wide association studies (EWAS), one utilized bioinformatics of the previous EWAS, with two studies using more than one approach. Methylation status of four cytosine-guanine dinucleotides (CpGs) related to four distinct genes (ITPR3, HAMP, INSR, CDHR5) have been found significantly or suggestively associated with DCI after aSAH. Analysis of epigenetic clocks yielded significant association of lower age acceleration with radiological CVS but not with DCI. Hub genes for hypermethylation (VHL, KIF3A, KIFAP3, RACGAP1, OPRM1) and hypomethylation (ALB, IL5) in DCI have been indicated through bioinformatics analysis. As none of the CpGs overlapped across the studies, meta-analysis was not applicable. The identified methylation sites might potentially serve as a biomarker for early diagnosis of DCI after aSAH in future. However, a lack of overlapping results prompts the need for large-scale multicenter studies. Challenges and prospects are discussed.


Assuntos
Isquemia Encefálica , Hemorragia Subaracnóidea , Vasoespasmo Intracraniano , Humanos , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/genética , Metilação de DNA , Infarto Cerebral/complicações , Isquemia Encefálica/genética , Isquemia Encefálica/complicações , Biomarcadores , Vasoespasmo Intracraniano/genética , Vasoespasmo Intracraniano/complicações , Proteínas Relacionadas a Caderinas
5.
Neurol Neurochir Pol ; 58(1): 120-126, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38305479

RESUMO

INTRODUCTION: Change in the sagittal balance after anterior cervical discectomy with fusion (ACDF) is a phenomenon that has not yet been sufficiently studied. The aim of this study was to assess such changes. MATERIAL AND METHODS: 28 patients who underwent ACDF for cervical spondylosis were examined. The study was divided into three stages: preoperative, early postoperative, and late postoperative. Sagittal alignments were analysed based on X-ray AP and lateral images: angles C1-C7, C2-C7, C1-C2, C1-C4, C4-C7 and cervical sagittal vertical axis (cSVA). RESULTS: The cervical lordosis C2-C7 decreased by 13% in early monitoring, after which it increased by 60% in the late postoperative phase. Post hoc analysis showed that the measured values between early and late postoperative monitoring differed significantly. Cervical sagittal vertical axis (cSVA) increased by 23% in early control and then decreased by 18% in the late postoperative phase. Post hoc analysis showed that the measured values significantly differed between preoperative and early postoperative monitoring, and between early and late postoperative monitoring. CONCLUSIONS: We have shown that the long-term effect of ACDF is correction of the sagittal balance of the cervical spine. Immediately after the procedure, a disturbance in the cervical spine curvature to the morphology of the entire spine is observed.


Assuntos
Lordose , Fusão Vertebral , Humanos , Estudos Retrospectivos , Discotomia/métodos , Fusão Vertebral/métodos , Lordose/diagnóstico por imagem , Lordose/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia
6.
Front Neurosci ; 17: 1247151, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37928732

RESUMO

Intracranial aneurysms (IA) are the most common cerebral vascular pathologies. Their rupture leads to the most dangerous subtype of stroke-aneurysmal subarachnoid hemorrhage (aSAH), which may be followed by cerebral vasospasm and ischemic sequelae. Recently, an imbalance within the intestinal microbiota, referred to as dysbiosis, was suggested to play a role in the formation, progression, and rupture of IA. As no systematic review on this topic exists, considering the significance of this matter and a lack of effective prophylaxis against IA or cerebral vasospasm, we aim to sum up the current knowledge regarding their associations with intestinal microbiome, identify the gaps, and determine future prospects. Scientific databases were systematically and independently searched by two authors from inception to 1st May 2023 for original articles regarding the role of intestinal microbiota in intracranial aneurysmal growth, aSAH occurrence, as well as in cerebral vasospasm following aSAH. The PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) checklist was followed in an abstraction process. The STROBE tool was applied to assess the risk of bias. This research was funded by the National Science Centre, Poland (grant number 2021/41/N/NZ2/00844). Of 302 records, four studies were included that fully met eligibility criteria. Studies reported (1) that the relative abundance of Hungatella hathewayi is a protective factor against aneurysm growth and rupture, resulting from the reduced inflammation and extracellular matrix remodeling in the cerebral arterial wall and from reduced metalloproteinase-mediated degradation of smooth muscle cells in cerebral vessels. (2) Relative abundance of Campylobacter ureolyticus is associated with aSAH. (3) No article has evaluated microbiota in relation to cerebral vasospasm following aSAH although there is an ongoing study. We concluded that intestinal microbiota might be a potential target for diagnostic and therapeutic tools to improve the management of cerebral aneurysms. However, more studies of prospective design are needed.

7.
Surg Neurol Int ; 14: 124, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37151430

RESUMO

Background: Tumors of the fourth ventricle are exceedingly rare; however, such lesions are formidable due to the severe postoperative neurological complications (pNCs) which often occur. The adoption of the telovelar approach over the transvermian was created to supposedly mitigate the pNCs; however, there is a lack of sufficient data supporting this theory. Methods: Records from six hospitals were reviewed for patients surgically treated for a single tumor within the 4th ventricle from 2016 to 2022. The pNCs which had 10 or more occurrences among the patients were individually assessed as the dependent variable in a binary logistic regression model against covariates which included the surgical approach. Results: This study of 67 patients confirms no significant differences in risk for pNCs between the transvermian and telovelar approach. Rather, multivariate analysis identified neurophysiological monitoring (IONM) as a protective factor for postoperative speech and swallowing defects (odds ratio [OR]: 0.076, 95% confidence interval [CI] 0.011-0.525). Furthermore, intraoperative external ventricular drainage (EVD) was a protective factor for postoperative gait and focal motor defects (OR: 0.075, 95% CI 0.009-0.648) and for postoperative hydrocephalus (OR: 0.020, 95% CI 0.002-0.233). A univariate meta-analysis pooling the present study's patients and an additional 304 patients from the three additional studies in the literature confirms no significant differences in risk between the transvermian and telovelar approach for pNCs. Conclusion: Intraoperative adjuncts including IONM and EVD may play a significant role in the postoperative outcome. Despite the present study's sample size being a major limitation, the findings may provide great value to neurosurgeons given the scarcity of the current literature.

8.
J Clin Med ; 12(6)2023 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-36983258

RESUMO

This study compared cognitive domains between deficit schizophrenia (DS) and non-deficit schizophrenia (NDS) patients and healthy controls (HC), analyzing relationships between psychopathological dimensions and cognitive domains. A total of 29 DS patients, 45 NDS patients, and 39 HC subjects participated. Cognitive domains were measured using the Measurement and Treatment Research to Improve Cognition in Schizophrenia Battery. Psychopathological symptoms were evaluated with the Positive and Negative Syndrome Scale. Clinical groups performed poorer than HC groups in regards to speed of processing, attention/vigilance, working memory, verbal and visual learning and memory, reasoning and problem solving, and social cognition. DS patients scored poorer than NDS patients in terms of all cognitive domains and the overall score, except for reasoning and problem solving. Positive, negative, disorganization, and resistance symptoms were related to cognitive functions only in NDS patients. Our findings suggest that the MCCB battery is sensitive to detecting cognitive dysfunctions in both deficit and non-deficit schizophrenia.

9.
Neurosurg Focus ; 54(3): E3, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36857789

RESUMO

OBJECTIVE: The Chicago Chiari Outcome Scale (CCOS) serves as a standardized clinical outcome evaluation tool among patients with Chiari malformation type I (CM-I). While the reliability of this scale has been proven for pediatric patients, the literature lacks CCOS validation when used solely in adults. Therefore, this study aimed to determine the validity of the CCOS in an external cohort of adult patients. METHODS: The authors retrospectively analyzed the medical records of symptomatic patients with CM-I who underwent posterior fossa decompression between 2010 and 2018 in six neurosurgical departments. Each patient was clinically assessed at the latest available follow-up. Gestalt outcome was determined as improved, unchanged, or worsened compared with the preoperative clinical state. Additionally, the CCOS score was calculated for each patient based on the detailed clinical data. To verify the ability of the CCOS to determine clinical improvement, the area under the receiver operating characteristic (AUROC) curve was evaluated. A logistic regression analysis using all four components of the CCOS (pain symptoms, nonpain symptoms, functionality, and complications) was performed to establish predictors of the improved outcome. RESULTS: Seventy-five individuals with a mean age of 42 ± 15.32 years were included in the study. The mean follow-up duration was 52 ± 33.83 months. Considering gestalt outcome evaluation, 41 patients (54.7%) were classified as improved, 24 (32%) as unchanged, and 10 (13.3%) as worsened. All patients with a CCOS score of 14 or higher improved, while all those with a CCOS score of 8 or lower worsened. The AUROC was 0.986, suggesting almost perfect accuracy of the CCOS in delineating clinical improvement. A CCOS score of 13 showed high sensitivity (0.93) and specificity (0.97) for identifying patients with clinical improvement. Additionally, a meaningful correlation was found between higher CCOS scores in each component and better outcomes. Patient stratification by total CCOS score showed that those categorized as improved, unchanged, and worsened scored prevalently between 13 and 16 points, 10 and 12 points, and 4 and 9 points, respectively. CONCLUSIONS: In this adult cohort, the CCOS was found to be almost perfectly accurate in reflecting postoperative clinical improvement. Moreover, all four CCOS components (pain symptoms, nonpain symptoms, functionality, and complications) significantly correlated with patient clinical outcomes.


Assuntos
Malformação de Arnold-Chiari , Humanos , Adulto , Criança , Pessoa de Meia-Idade , Chicago , Reprodutibilidade dos Testes , Estudos Retrospectivos , Dor
10.
J Clin Med ; 12(5)2023 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-36902784

RESUMO

This study: (a) compared executive functions between deficit (DS) and non-deficit schizophrenia (NDS) patients and healthy controls (HC), controlling premorbid IQ and level of education; (b) compared executive functions in DS and NDS patients, controlling premorbid IQ and psychopathological symptoms; and (c) estimated relationships between clinical factors, psychopathological symptoms, and executive functions using structural equation modelling. Participants were 29 DS patients, 44 NDS patients, and 39 HC. Executive functions were measured with the Mazes Subtest, Spatial Span Subtest, Letter Number Span Test, Color Trail Test, and Berg Card Sorting Test. Psychopathological symptoms were evaluated with the Positive and Negative Syndrome Scale, Brief Negative Symptom Scale, and Self-evaluation of Negative Symptoms. Compared to HC, both clinical groups performed poorer on cognitive flexibility, DS patients on verbal working memory, and NDS patients on planning. DS and NDS patients did not differ in executive functions, except planning, after controlling premorbid IQ and negative psychopathological symptoms. In DS patients, exacerbation had an effect on verbal working memory and cognitive planning; in NDS patients, positive symptoms had an effect on cognitive flexibility. Both DS and NDS patients presented deficits, affecting the former to a greater extent. Nonetheless, clinical variables appeared to significantly affect these deficits.

11.
J Clin Med ; 12(4)2023 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-36836111

RESUMO

Evidence suggests a role of the immune system in the pathogenesis of a number of mental conditions, including schizophrenia (SCH). In terms of physiology, aside from its crucial protective function, the complement cascade (CC) is a critical element of the regeneration processes, including neurogenesis. Few studies have attempted to define the function of the CC components in SCH. To shed more light on this topic, we compared the levels of complement activation products (CAP) (C3a, C5a and C5b-9) in the peripheral blood of 62 patients with chronic SCH and disease duration of ≥ 10 years with 25 healthy controls matched for age, sex, BMI and smoking status. Concentrations of all the investigated CAP were elevated in SCH patients. However, after controlling for potential confounding factors, significant correlations were observed between SCH and C3a (M = 724.98 ng/mL) and C5a (M = 6.06 ng/mL) levels. In addition, multivariate logistic regression showed that C3a and C5b-9 were significant predictors of SCH. There were no significant correlations between any CAP and SCH symptom severity or general psychopathology in SCH patients. However, two significant links emerged between C3a and C5b-9 and global functioning. Increased levels of both complement activation products in the patient group as compared to healthy controls raise questions concerning the role of the CC in the etiology of SCH and further demonstrate dysregulation of the immune system in SCH patients.

12.
J Clin Med ; 12(2)2023 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-36675612

RESUMO

Chronic subclinical inflammation is believed to be an important factor in the pathogenesis of schizophrenia. Meta-analyses confirm the presence of increased levels of peripheral inflammatory markers (IM) in schizophrenia and its prodromal stages. Peripheral cytokines may affect the brain microstructure through chronic activation of microglia. Disruptions in the integrity of the superior longitudinal fasciculus (SLF) and inferior longitudinal fasciculus (ILF) are commonly seen in patients with schizophrenia spectrum disorders. We therefore attempted to verify in a cross-sectional study whether there is a correlation between levels of peripheral IM and the integrity of these brain regions in healthy controls, from prodromal states and first episode psychosis to long-term schizophrenia. The integrity of white matter was measured using diffusion tensor imaging. Despite a broad analysis of six IM (CRP, IL-6, IL-8, IL-10, TNF-α, and IFN-γ), we did not find any correlations with the integrity of the SLF or ILF in any of the analyzed groups (after correction for multiple comparisons). In conclusion, our study does not support the existence of a link between disrupted levels of peripheral IM and reduced integrity of ILF and SLF in schizophrenia spectrum disorders. However, prospective studies are needed to verify this over a long period of time.

13.
Arch Sex Behav ; 52(2): 669-677, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36602657

RESUMO

Contradictory results have been reported regarding effects of the SARS-CoV-2 upon human semen. A timely and up-to-date systematic review with meta-analysis appears necessary. This study aimed to deliver pooled prevalence (PP) of SARS-CoV-2 in semen and pooled semen parameters as compared with the uninfected. The relevant databases were scanned by two authors for observational studies reporting analysis of semen in COVID-19 patients. The SARS-CoV-2-infected were assigned to group A (exposed arm), whereas the uninfected to group B (unexposed arm). Newcastle-Ottawa Scale was used to address the risk of bias. PRISMA guidelines were adopted. In case of homogenous studies, fixed-effects model was followed, whereas for heterogenous studies random-effects model was used. Of 990 studies, 24 were eligible involving 1589 subjects (947 in group A and 642 in group B). The "comparability" domain was biased the most. SARS-CoV-2 RNA was detected in three studies among 8 individuals producing the PP of 1.76% (95% CI 0.72-3.21). Sperm concentration was reduced significantly (WMD = -16.23 [95% CI -25.56 to -6.89], as well as total sperm in ejaculate (WMD = -34.84 [95% CI - 43.51 to -26.17]) and sperm volume (WMD = - 0.48 [95% CI - 0.59 to - 0.36] in group A as compared with controls. There was a non-significant effect upon progressive motility and leukocyte presence in semen. SARS-CoV-2 RNA in semen among the infected individuals is detected infrequently. By this token, sexual transmission through semen is of low probability and little concern for public health. However, significant decrease in sperm volume, sperm concentration, and total sperm in ejaculate has been noted. The current data, though, are limited, and more studies with longer follow-up are needed to evaluate the further impact.


Assuntos
COVID-19 , Sêmen , Humanos , Masculino , SARS-CoV-2 , RNA Viral , Espermatozoides
14.
Acta Neurochir (Wien) ; 165(4): 975-981, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36473981

RESUMO

PURPOSE: While Ruptured Arteriovenous Malformation Grading Scale (RAGS) has recently been validated in children, the literature lacks validation on adults exclusively. Therefore, we aimed to determine the validity of RAGS on the external multicenter adult cohort and compare its accuracy with other scales. METHODS: A retrospective analysis was performed in five neurosurgical departments to extract patients who presented with the first episode of acute brain arteriovenous malformation (bAVM) rupture between 2012 and 2019. Standard logistic regression and area under the receiver operating curve (AUROC) calculations were performed to determine the value of the following scales: intracerebral hemorrhage (ICH), AVM-associated ICH (AVICH), Spetzler-Martin (SM), Supplemented SM (Supp-SM), Hunt and Hess (HH), Glasgow Coma Scale (GCS), World Federation of Neurological Surgeons (WFNS), and RAGS to predict change in categorical and dichotomized modified Rankin Scale (mRS) across three follow-up periods: within the 6 months, 6 months to 1 year, and above 1 year. RESULTS: Sixty-one individuals with a mean age of 43.6 years were included. The RAGS outperformed other grading scales during all follow-up time frames. It showed AUROC of 0.78, 0.74, and 0.71 at the first 6 months, between 6 and 12 months, and after 12 months of follow-up, respectively, when categorized mRS was applied, while corresponding values were 0.79, 0.76, and 0.73 for dichotomized mRS, respectively. CONCLUSION: The RAGS constitutes a reliable scale predicting clinical outcomes following bAVM rupture among adults. Furthermore, the RAGS proved its generalizability across medical centers with varying treatment preferences.


Assuntos
Malformações Arteriovenosas Intracranianas , Criança , Adulto , Humanos , Resultado do Tratamento , Estudos Retrospectivos , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/cirurgia , Hemorragia Cerebral/cirurgia , Escala de Coma de Glasgow
15.
Neuro Endocrinol Lett ; 43(4): 199-207, 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36528881

RESUMO

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder characterized by tumors in various endocrine glands. It is caused by a mutation in the MEN1 gene. This gene encodes menin, a protein that regulates cell proliferation. The clinical manifestation of the syndrome most commonly involves hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. Although the first symptoms of the disease usually occur in patients under the age of 20, the data on MEN1 in children is scarce. Here, we report a case study of a familial MEN1 syndrome with a central nervous system ganglioglioma, a manifestation that has not been characterized so far. CASE REPORT: The diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis were reported in his father, and his asymptomatic sister was initially diagnosed with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed primary hyperparathyroidism in both children and their father, which is typical of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of the central nervous system. Surgical treatment was successfully conducted in both children. CONCLUSIONS: The reported family case provides evidence of the diagnostic and therapeutic difficulties related to the MEN1 syndrome. In children, the benefits of an early surgery should be considered in relation to the risks of possible surgical complications and consequences of a loss of endocrine gland function.


Assuntos
Neoplasias Encefálicas , Ganglioglioma , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas , Pancreatite , Masculino , Feminino , Criança , Humanos , Adolescente , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Doença Aguda , Ganglioglioma/complicações , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/complicações , Neoplasias Encefálicas/complicações
16.
J Clin Med ; 11(21)2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36362580

RESUMO

Peripheral cytokines may affect the brain through chronic activation of microglia and, as a result, can potentially lead to decreased integrity of white matter of cingulum bundle (CB). Therefore, the aim of the study was to analyze the relationships between peripheral inflammatory markers and the integrity of the CB in various states: from healthy controls, through prodromal states and first-episode psychosis, to long-term schizophrenia. The integrity of the CB was measured using diffusion tensor imaging. We analyzed six parameters: CRP, IL-6, IL-8, IL-10, TNF-α, and IFN-γ. We found that levels of IL-6 and IFN-γ differed significantly between groups. Initial analysis showed some correlations between the inflammatory markers and CB integrity, in particular a correlation with IL-6 that was present in several groups. However, none of the analyzed parameters were associated with the integrity of the CB after correction for multiple comparisons. Conclusions: Our results supported our hypothesis that there are increased levels of inflammatory markers in psychotic disorders, but did not allow to confirm our hypothesis that there is a link between increased peripheral inflammatory markers and decreased integrity of the CB. However, we found some interesting trend levels that need to be verified in larger studies.

17.
J Clin Med ; 11(9)2022 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-35566742

RESUMO

Impairments in cognitive functions are one of the main features of schizophrenia. A variety of factors can influence the extent of cognitive deficits. In our study, we examined the severity of cognitive deficits at different stages of the disease and the relationship between psychopathological symptoms and cognitive functions. We recruited 32 patients with first-episode psychosis (FEP), 70 with chronic schizophrenia (CS), and 39 healthy controls (HC). Psychopathological symptoms were evaluated with the Positive and Negative Syndrome Scale (PANSS) and cognitive functions were measured with the MATRICS Cognitive Consensus Battery (MCCB). Cognitive deficits were present in both FEP and CS participants. CS individuals had lower overall scores and poorer working memory; however, clinical variables appeared to play a significant role in these scores. In FEP, disorganization correlated negatively with verbal and visual learning and memory, social cognition, and overall score; negative symptoms negatively correlated with social cognition. In CS participants, disorganization correlated negatively with speed of processing, reasoning, problem solving, and overall score; negative symptoms were negatively correlated with speed of processing, visual learning, memory, and overall score; positive symptoms were negatively correlated with reasoning and problem solving. Our findings indicate that psychopathological symptoms have a significant impact on cognitive functions in FEP and CS patients.

18.
J Craniovertebr Junction Spine ; 13(1): 72-79, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35386241

RESUMO

Objective: Health-related quality of life (HRQoL) in craniocervical instability (CCI) before and after posterior fixation is yet to be determined. This study aimed to deliver novel and clinically relevant data about HRQoL (baseline, at follow-up, predictors, and correlates) in subjects with CCI treated with posterior fixation with or without occipital plating, and to compare it with matched datasets. Methods: EuroQol-5 dimensions (EQ-5D) questionnaires were collected to evaluate HRQoL before surgery and at follow-up. Study sample size was estimated at 58. Comparison with representative datasets was done by matching on a many-to-many basis. Classic CCI parameters were measured. Strengthening the Reporting of Observational Studies in Epidemiology was followed. Results: Sixty subjects were included. The mean age was 37.2 years. The median follow-up for EQ-5D was 26.3 months with interquartile range (IQR) 10.8 to 47.3 months. The median preoperative score of the 3-level version of EQ-5D (EQ-5D-3L) was 0.254 (IQR = -0.025 to 0.504), whereas at follow-up, it increased to 0.779 (IQR = 0.387-0.864) which is still worse than the 25th percentile (0.894) of the age-matched population. Occipital plating (n = 35; 58.3%) did not influence HRQoL trajectory (P = 0.692). In multiple linear regression, HRQoL at follow-up was affected by the age (ß = -0.004; P = 0.049) and length of hospitalization (ß = -0.134; P = 0.010). Of radiologic measurements, preoperative Wackenheim line correlated with HRQoL at follow-up (rho = -0.432; P = 0 - 028). Conclusions: HRQoL is significantly reduced in CCI. Although this can be improved with posterior fixation, it is still worse than the age-matched population. Occipital plating may not influence HRQoL. HRQoL of the elderly might not increase as much as of the younger subjects. The longer hospitalization, the worse HRQoL could be expected. Preoperative Wackenheim parameter could correlate with HRQoL at follow-up.

19.
Brain Sci ; 12(3)2022 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-35326310

RESUMO

Some symptoms of schizophrenia might be present before full-blown psychosis, so white matter changes must be studied both in individuals with emerging psychosis and chronic schizophrenia. A total of 86 patients­12 ultra-high risk of psychosis (UHR), 20 first episode psychosis (FEP), 54 chronic schizophrenia (CS), and 33 healthy controls (HC)­underwent psychiatric examination and diffusion tensor imaging (DTI) in a 3-Tesla MRI scanner. We assessed fractional anisotropy (FA) and mean diffusivity (MD) of the superior longitudinal fasciculus (SLF) and inferior longitudinal fasciculus (ILS). We found that CS patients had lower FA than FEP patients (p = 0.025) and HC (p = 0.088), and higher MD than HC (p = 0.037) in the right SLF. In the CS group, we found positive correlations of MD in both right ILF (rho = 0.39, p < 0.05) and SLF (rho = 0.43, p < 0.01) with disorganization symptoms, as well as negative correlation of FA in the right ILF with disorganization symptoms (rho = −0.43, p < 0.05). Among UHR individuals, we found significant negative correlations between MD in the left ILF and negative (r = −0.74, p < 0.05) and general symptoms (r = −0.77, p < 0.05). However promising, these findings should be treated as preliminary, and further research must verify whether they can be treated as potential biomarkers of psychosis.

20.
Brain Sci ; 12(2)2022 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-35204030

RESUMO

The superior longitudinal fasciculus (SLF) is a white matter bundle that connects the frontal areas with the parietal areas. As part of the visuospatial attentional network, it may be involved in the development of schizophrenia. Deficit syndrome (DS) is characterized by primary and enduring negative symptoms. The present study assessed SLF integrity in DS and nondeficit schizophrenia (NDS) patients and examined possible relationships between it and psychopathology. Twenty-six DS patients, 42 NDS patients, and 36 healthy controls (HC) underwent psychiatric evaluation and diffusion tensor imaging (DTI). After post-processing, fractional anisotropy (FA) values within the SLF were analyzed. Psychopathology was assessed with the Positive and Negative Syndrome Scale, Brief Negative Symptom Scale, and Self-evaluation of Negative Symptoms. The PANSS proxy for the deficit syndrome was used to diagnose DS. NDS patients had lower FA values than HC. DS patients had greater negative symptoms than NDS patients. After differentiating clinical groups and HC, we found no significant correlations between DTI measures and psychopathological dimensions. These results suggest that changes in SLF integrity are related to schizophrenia, and frontoparietal dysconnection plays a role in its etiopathogenesis. We confirmed that DS patients have greater negative psychopathology than NDS patients. These results are preliminary; further studies are needed.

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