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1.
Brain Sci ; 14(4)2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38672046

RESUMO

Fatigue is a common non-motor symptom in Parkinson's disease (PD), but even so, it may still be underdiagnosed or misdiagnosed in current practice due to its non-specific manifestations. The aims of this study were to investigate the prevalence of fatigue in PD patients compared to healthy controls and to identify the main characteristics and associations of fatigue with other non-motor symptoms and the impact of fatigue on sleep disturbances in Parkinson's disease. MATERIALS AND METHODS: case-control study in which 131 PD patients and 131 age- and sex-matched controls were enrolled. Main characteristics of fatigue, sleep, and other non-motor symptoms were assessed using specific validated questionnaires. RESULTS: According to the Chalder fatigue scale, fatigue is more prevalent in PD patients (38.16%) compared to healthy controls (26.71%). Fatigue was identified in 46.54% of the PD patients using the Parkinson's Fatigue Scale (PFS-16). PD patients with fatigue presented a worse motor status, more sleep disturbances (insomnia, daytime sleepiness), a broader spectrum of non-motor symptoms (pain, anxiety, urinary disturbances), worse cognitive performances, a lower level of happiness, and worse quality of life compared to PD patients without fatigue. CONCLUSION: Fatigue is a common symptom of PD and needs to be assessed, considering its consequences on quality of life. Sleep disturbances have a great influence over fatigue in PD patients.

2.
Biomolecules ; 14(4)2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38672515

RESUMO

Cerebrovascular disease accounts for major neurologic disabilities in patients with type 2 diabetes mellitus (DM). A potential association of mitochondrial DNA (mtDNA) and inflammation with cerebral vessel remodeling in patients with type 2 DM was evaluated. A cohort of 150 patients and 30 healthy controls were assessed concerning urinary albumin/creatinine ratio (UACR), synaptopodin, podocalyxin, kidney injury molecule-1 (KIM-1), N-acetyl-ß-(D)-glucosaminidase (NAG), interleukins IL-17A, IL-18, IL-10, tumor necrosis factor-alpha (TNFα), intercellular adhesion molecule-1 (ICAM-1). MtDNA-CN and nuclear DNA (nDNA) were quantified in peripheral blood and urine by qRT-PCR. Cytochrome b (CYTB) gene, subunit 2 of NADH dehydrogenase (ND2), and beta 2 microglobulin nuclear gene (B2M) were assessed by TaqMan assays. mtDNA-CN was defined as the ratio of the number of mtDNA/nDNA copies, through analysis of the CYTB/B2M and ND2/B2M ratio; cerebral Doppler ultrasound: intima-media thickness (IMT)-the common carotid arteries (CCAs), the pulsatility index (PI) and resistivity index (RI)- the internal carotid arteries (ICAs) and middle cerebral arteries (MCAs), the breath-holding index (BHI). The results showed direct correlations of CCAs-IMT, PI-ICAs, PI-MCAs, RI-ICAs, RI-MCAs with urinary mtDNA, IL-17A, IL-18, TNFα, ICAM-1, UACR, synaptopodin, podocalyxin, KIM-1, NAG, and indirect correlations with serum mtDNA, IL-10. BHI correlated directly with serum IL-10, and serum mtDNA, and negatively with serum IL-17A, serum ICAM-1, and NAG. In neurologically asymptomatic patients with type 2 DM cerebrovascular remodeling and impaired cerebrovascular reactivity may be associated with mtDNA variations and inflammation from the early stages of diabetic kidney disease.


Assuntos
DNA Mitocondrial , Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Inflamação , Humanos , DNA Mitocondrial/genética , Masculino , Feminino , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Pessoa de Meia-Idade , Inflamação/genética , Nefropatias Diabéticas/genética , Nefropatias Diabéticas/patologia , Idoso , Remodelação Vascular/genética , Estudos de Casos e Controles
3.
J Multidiscip Healthc ; 17: 881-888, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38445066

RESUMO

Purpose: The objective of this research was to determine if there is any correlation between the severity of neurocognitive disorder and hearing impairment in the elderly. Patients and Methods: This is a population-based observational study that included subjects aged ≥ 65 years. They were evaluated for the existence of cardiovascular risk factors, diabetes, stroke, alcohol abuse, and smoking. Hearing impairment was diagnosed by an audiologist, using behavioral audiometric examination. These evaluations might have been performed in response to concerns about hearing loss, or they could have been a routine component of yearly comprehensive health screenings that included a Mini-Mental State Examination 2nd Edition (MMSE-2) test. According to the results of the MMSE-2 scale, we divided the individuals into two groups, Group I for those who had cognitive impairment and severe neurocognitive disorder, and Group II for those who did not have cognitive impairment. Results: The study enrolled 203 patients with a mean age of 77 ± 7.5 years (range 65-98), 99 (48%) were males. When comparing the two groups, group I patients presented more often cardiovascular risk factors, stroke, diabetes, and impaired hearing. The univariable logistic regression found that cognitive impairment was significantly more frequent in the elderly with cardiovascular disease, diabetes, and stroke (p<0.0001). The multivariate regression analysis found that stroke (p<0.0001) diabetes (p=0.0008), cardiovascular disease (p=0.0004), and impaired hearing (p=0.0011) were significantly linked to cognitive impairment. The occurrence of hearing impairment in the elderly was related to having an MMSE-2 score of 14 or below. Conclusion: According to the findings of this research, the elderly who have trouble hearing in addition to other conditions might have an increased risk for severe neurocognitive disorder.

4.
Am J Ther ; 31(3): e209-e218, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38460175

RESUMO

BACKGROUND: For Parkinson disease (PD) patients who have been diagnosed with advanced disease that can no longer be effectively controlled with optimized oral or transdermal medications, a range of device-aided therapies (DAT) are available, comprising either deep brain stimulation or infusion therapies providing continuous dopaminergic stimulation. Levodopa-entacapone-carbidopa intestinal gel (LECIG) infusion is the latest DAT for advanced PD (APD) that was approved in Romania in 2021. STUDY QUESTION: What is the experience to date in real-world clinical practice in Romania regarding the efficacy and tolerability of LECIG in APD? STUDY DESIGN: A retrospective evaluation of 74 APD patients treated with LECIG at 12 specialized APD centers in Romania. MEASURES AND OUTCOMES: Demographic data and various clinical parameters were recorded, including Mini Mental State Evaluation score or Montreal Cognitive Assessment Test score. Levodopa-equivalent daily dose and the administered doses of levodopa and other PD medications were evaluated at baseline and after starting LECIG treatment. The efficacy of LECIG in reducing daily hours of off time, motor fluctuations, and dyskinesias were assessed. Any percutaneous endoscopic gastrojejunostomy system or device complications after starting LECIG treatment were noted. RESULTS: At baseline, patients were taking oral levodopa for a mean of 5.3 times per day, with a high proportion also taking concomitant add-on therapies (dopamine agonists, 86%, monoamine oxidase type-B inhibitors, 53%; catechol-O-methyltransferase inhibitors, 64%). LECIG treatment significantly reduced daily off time versus baseline from 5.7 h/d to 1.7 hours per day ( P < 0.01). Duration and severity of dyskinesias was also significantly reduced versus baseline, and improvements were observed in Hoehn and Yahr Scale scores. LECIG treatment also allowed a significant reduction in the use of concomitant oral medications. CONCLUSIONS: These findings suggest that LECIG treatment is an effective DAT option in APD that can simplify the treatment regimen.


Assuntos
Antiparkinsonianos , Carbidopa , Catecóis , Combinação de Medicamentos , Géis , Levodopa , Nitrilas , Doença de Parkinson , Humanos , Doença de Parkinson/tratamento farmacológico , Levodopa/administração & dosagem , Levodopa/uso terapêutico , Levodopa/efeitos adversos , Carbidopa/administração & dosagem , Carbidopa/uso terapêutico , Carbidopa/efeitos adversos , Masculino , Feminino , Estudos Retrospectivos , Idoso , Catecóis/administração & dosagem , Catecóis/uso terapêutico , Catecóis/efeitos adversos , Pessoa de Meia-Idade , Antiparkinsonianos/administração & dosagem , Antiparkinsonianos/uso terapêutico , Antiparkinsonianos/efeitos adversos , Nitrilas/administração & dosagem , Nitrilas/uso terapêutico , Nitrilas/efeitos adversos , Resultado do Tratamento , Romênia
5.
Exp Ther Med ; 27(1): 13, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38125345

RESUMO

The present study focused on examining the association between the SARS-CoV-2 virus, responsible for the COVID-19 pandemic, and cerebral venous thrombosis (CVT), a specific form of stroke that affects the brain's vessels and sinuses. While COVID-19 is primarily recognized for its respiratory impact, it may also affect other organs, including the brain. One notable aspect of COVID-19 is its association with coagulopathy, an abnormal condition of blood clotting. Coagulopathy may result in various complications, including neurological ones such as stroke. The study analyzed data obtained from patients admitted to a neurology department who had confirmed neurological pathologies along with COVID-19. It specifically examined the cases of three patients with neurological conditions and COVID-19, discussing their risk factors and how their conditions progressed clinically. The study concluded that COVID-19 infection increases the likelihood of stroke, particularly within the initial 10 days after infection. CVT in particular is strongly linked to COVID-19 and its underlying mechanisms involve immune systemic processes, cytokine storms, increased blood thickness, thrombogenesis, hypercoagulability and inflammation. The presence of SARS-CoV-2 infection may worsen the procoagulant cascade, thereby affecting the clinical condition of patients with CVT. The study underscores the importance of recognizing this uncommon but treatable consequence of COVID-19 infection. Furthermore, it highlights the uniqueness of the study in evaluating COVID-19 infection in patients with CVT from Romania and South-East Europe. The findings support the existence of neurological disorders, including clotting complications in the brain's sinuses and vessels, in individuals infected with SARS-CoV-2. Several risk factors contribute to the development of CVT, such as infections, oral contraceptives, pregnancy, hematological disorders, trauma, autoimmune disorders and malignancies.

6.
Metabolites ; 13(8)2023 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-37623837

RESUMO

Complications due to type 2 diabetes mellitus (T2DM) such as diabetic kidney disease (DKD) and cerebral small vessel disease (CSVD) have a powerful impact on mortality and morbidity. Our current diagnostic markers have become outdated as T2DM-related complications continue to develop. The aim of the investigation was to point out the relationship between previously selected metabolites which are potentially derived from gut microbiota and indicators of endothelial, proximal tubule (PT), and podocyte dysfunction, and neurosonological indices. The study participants were 20 healthy controls and 90 T2DM patients divided into three stages: normoalbuminuria, microalbuminuria, and macroalbuminuria. Serum and urine metabolites were determined by untargeted and targeted metabolomic techniques. The markers of endothelial, PT and podocyte dysfunction were assessed by ELISA technique, and the neurosonological indices were provided by an ultrasound device with high resolution (MYLAB 8-ESAOTE Italy). The descriptive statistical analysis was followed by univariable and multivariable linear regression analyses. In conclusion, in serum, arginine (sArg), butenoylcarnitine (sBCA), and indoxyl sulfate (sIS) expressed a biomarker potential in terms of renal endothelial dysfunction and carotid atherosclerosis, whereas sorbitol (sSorb) may be a potential biomarker of blood-brain barrier (BBB) dysfunction. In urine, BCA and IS were associated with markers of podocyte damage, whereas PCS correlated with markers of PT dysfunction.

7.
Biomolecules ; 13(7)2023 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-37509122

RESUMO

Diabetic kidney disease (DKD) is one of the most debilitating complications of type 2 diabetes mellitus (T2DM), as it progresses silently to end-stage renal disease (ESRD). The discovery of novel biomarkers of early DKD becomes acute, as its incidence is reaching catastrophic proportions. Our study aimed to quantify previously identified metabolites from serum and urine through untargeted ultra-high-performance liquid chromatography coupled with electrospray ionization-quadrupole-time of flight-mass spectrometry (UHPLC-QTOF-ESI+-MS) techniques, such as the following: arginine, dimethylarginine, hippuric acid, indoxyl sulfate, p-cresyl sulfate, L-acetylcarnitine, butenoylcarnitine and sorbitol. The study concept was based on the targeted analysis of selected metabolites, using the serum and urine of 20 healthy subjects and 90 T2DM patients with DKD in different stages (normoalbuminuria-uACR < 30 mg/g; microalbuminuria-uACR 30-300 mg/g; macroalbuminuria-uACR > 300 mg/g). The quantitative evaluation of metabolites was performed with pure standards, followed by the validation methods such as the limit of detection (LOD) and the limit of quantification (LOQ). The following metabolites from this study resulted as possible biomarkers of early DKD: in serum-arginine, dimethylarginine, hippuric acid, indoxyl sulfate, butenoylcarnitine and sorbitol and in urine-p-cresyl sulfate.


Assuntos
Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Microbioma Gastrointestinal , Humanos , Nefropatias Diabéticas/diagnóstico , Nefropatias Diabéticas/metabolismo , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/metabolismo , Indicã , Metabolômica/métodos , Biomarcadores , Arginina , Sulfatos
8.
Biomedicines ; 11(6)2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-37371622

RESUMO

Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease; however, few biomarkers of its early identification are available. The aim of the study was to assess new biomarkers in the early stages of DKD in type 2 diabetes mellitus (DM) patients. This cross-sectional pilot study performed an integrated metabolomic profiling of blood and urine in 90 patients with type 2 DM, classified into three subgroups according to albuminuria stage from P1 to P3 (30 normo-, 30 micro-, and 30 macroalbuminuric) and 20 healthy controls using high-performance liquid chromatography and mass spectrometry (UPLC-QTOF-ESI* MS). From a large cohort of separated and identified molecules, 33 and 39 amino acids and derivatives from serum and urine, respectively, were selected for statistical analysis using Metaboanalyst 5.0. online software. The multivariate and univariate algorithms confirmed the relevance of some amino acids and derivatives as biomarkers that are responsible for the discrimination between healthy controls and DKD patients. Serum molecules such as tiglylglycine, methoxytryptophan, serotonin sulfate, 5-hydroxy lysine, taurine, kynurenic acid, and tyrosine were found to be more significant in the discrimination between group C and subgroups P1-P2-P3. In urine, o-phosphothreonine, aspartic acid, 5-hydroxy lysine, uric acid, methoxytryptophan, were among the most relevant metabolites in the discrimination between group C and DKD group, as well between subgroups P1-P2-P3. The identification of these potential biomarkers may indicate their involvement in the early DKD and 2DM progression, reflecting kidney injury at specific sites along the nephron, even in the early stages of DKD.

9.
Int J Mol Sci ; 24(12)2023 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-37372951

RESUMO

Mitochondrial dysfunction is an important mechanism contributing to the development and progression of diabetic kidney disease (DKD). Mitochondrial DNA (mtDNA) levels in blood and urine were evaluated in relation to podocyte injury and proximal tubule (PT) dysfunction, as well as to a specific inflammatory response in normoalbuminuric DKD. A total of 150 type 2 diabetes mellitus (DM) patients (52 normoalbuminuric, 48 microalbuminuric, and 50 macroalbuminuric ones, respectively) and 30 healthy controls were assessed concerning the urinary albumin/creatinine ratio (UACR), biomarkers of podocyte damage (synaptopodin and podocalyxin), PT dysfunction (kidney injury molecule-1 (KIM-1) and N-acetyl-ß-(D)-glucosaminidase (NAG)), and inflammation (serum and urinary interleukins (IL-17A, IL-18, and IL-10)). MtDNA-CN and nuclear DNA (nDNA) were quantified in peripheral blood and urine via qRT-PCR. MtDNA-CN was defined as the ratio of the number of mtDNA/nDNA copies via analysis of the CYTB/B2M and ND2/B2M ratio. Multivariable regression analysis provided models in which serum mtDNA directly correlated with IL-10 and indirectly correlated with UACR, IL-17A, and KIM-1 (R2 = 0.626; p < 0.0001). Urinary mtDNA directly correlated with UACR, podocalyxin, IL-18, and NAG, and negatively correlated with eGFR and IL-10 (R2 = 0.631; p < 0.0001). Mitochondrial DNA changes in serum and urine display a specific signature in relation to inflammation both at the podocyte and tubular levels in normoalbuminuric type 2 DM patients.


Assuntos
Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Humanos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Interleucina-10 , Interleucina-17 , Interleucina-18/genética , DNA Mitocondrial/genética , Albuminúria/urina , Inflamação/genética , Mitocôndrias/genética , Biomarcadores/urina
10.
Biomedicines ; 11(4)2023 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-37189675

RESUMO

Chronic kidney disease (CKD) has emerged as one of the most progressive diseases with increased mortality and morbidity. Metabolomics offers new insights into CKD pathogenesis and the discovery of new biomarkers for the early diagnosis of CKD. The aim of this cross-sectional study was to assess metabolomic profiling of serum and urine samples obtained from CKD patients. Untargeted metabolomics followed by multivariate and univariate analysis of blood and urine samples from 88 patients with CKD, staged by estimated glomerular filtration rate (eGFR), and 20 healthy control subjects was performed using ultra-high-performance liquid chromatography coupled with electrospray ionization-quadrupole-time of flight-mass spectrometry. Serum levels of Oleoyl glycine, alpha-lipoic acid, Propylthiouracil, and L-cysteine correlated directly with eGFR. Negative correlations were observed between serum 5-Hydroxyindoleacetic acid, Phenylalanine, Pyridoxamine, Cysteinyl glycine, Propenoylcarnitine, Uridine, and All-trans retinoic acid levels and eGFR. In urine samples, the majority of molecules were increased in patients with advanced CKD as compared with early CKD patients and controls. Amino acids, antioxidants, uremic toxins, acylcarnitines, and tryptophane metabolites were found in all CKD stages. Their dual variations in serum and urine may explain their impact on both glomerular and tubular structures, even in the early stages of CKD. Patients with CKD display a specific metabolomic profile. Since this paper represents a pilot study, future research is needed to confirm our findings that metabolites can serve as indicators of early CKD.

11.
Life (Basel) ; 13(5)2023 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-37240720

RESUMO

(1) Background: Cerebral venous and dural sinus thrombosis (CVT) rarely appears in the adult population. It is difficult to diagnosis because of its variable clinical presentation and the overlapping signal intensities of thrombosis and venous flow on conventional MR images and MR venograms. (2) Case presentation: A 41-year-old male patient presented with an acute isolated intracranial hypertension syndrome. The diagnosis of acute thrombosis of the left lateral sinus (both transverse and sigmoid portions), the torcular Herophili, and the bulb of the left internal jugular vein was established by neuroimaging data from head-computed tomography, magnetic resonance imaging (including Contrast-enhanced 3D T1-MPRAGE sequence), and magnetic resonance venography (2D-TOF MR venography). We detected different risk factors (polycythemia vera-PV with JAK2 V617F mutation and inherited low-risk thrombophilia). He was successfully treated with low-molecular-weight heparin, followed by oral anticoagulation. (3) Conclusions: In the case of our patient, polycythemia vera represented a predisposing risk factor for CVT, and the identification of JAK2 V617F mutation was mandatory for the etiology of the disease. Contrast-enhanced 3D T1-MPRAGE sequence proved superior to 2D-TOF MR venography and to conventional SE MR imaging in the diagnosis of acute intracranial dural sinus thrombosis.

12.
Int J Mol Sci ; 24(7)2023 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-37047187

RESUMO

Type 2 diabetes mellitus (T2DM) represents an important microvascular disease concerning the kidney and the brain. Gut dysbiosis and microbiota-derived metabolites may be in relation with early pathophysiological changes in diabetic kidney disease (DKD). The aim of the study was to find new potential gut-derived biomarkers involved in the pathogenesis of early DKD, with a focus on the complex interconnection of these biomarkers with podocyte injury, proximal tubule dysfunction, renal and cerebrovascular endothelial dysfunction. The study design consisted of metabolite profiling of serum and urine of 90 T2DM patients (subgroups P1-normoalbuminuria, P2-microalbuminuria, P3-macroalbuminuria) and 20 healthy controls (group C), based on ultra-high-performance liquid chromatography coupled with electrospray ionization-quadrupole-time of flight-mass spectrometry analysis (UHPLC-QTOF-ESI+-MS). By multivariate and univariate analyses of serum and urine, which included Partial Least Squares Discriminant Analysis (PLSDA), Variable Importance Plots (VIP), Random Forest scores, One Way ANOVA and Biomarker analysis, there were discovered metabolites belonging to nitrogen metabolic pathway and retinoic acid signaling pathway which differentiate P1 group from P2, P3, C groups. Tyrosine, phenylalanine, indoxyl sulfate, serotonin sulfate, and all-trans retinoic acid express the metabolic fingerprint of P1 group vs. P2, P3, C groups, revealing a particular pattern in early DKD in T2DM patients.


Assuntos
Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Humanos , Diabetes Mellitus Tipo 2/metabolismo , Nefropatias Diabéticas/metabolismo , Rim/metabolismo , Cromatografia Líquida de Alta Pressão/métodos , Albuminúria/metabolismo , Biomarcadores
13.
J Pers Med ; 13(3)2023 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-36983602

RESUMO

BACKGROUND AND AIMS: Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment. With this paper, we aim to present some of the orphan neurological diseases for which new drugs have been developed lately. METHODS: We have conducted a literature review of the papers concerning rare diseases and their treatment, and we have analyzed the existing studies for each orphan drug. For this purpose, we have used the Google Scholar search engine and the Orphanet. We have selected the studies published in the last 15 years. RESULTS: Since the formation of the National Organization for Rare Diseases, the Orphan Drug Act, and the National Institutes of Health Office of Rare Diseases, pharmacological companies have made a lot of progress concerning the development of new drugs. Therefore, diseases that until recently were without therapeutic solutions benefit today from personalized treatment. We have detailed in our study over 15 neurological and systemic diseases with neurological implications, for which the last 10-15 years have brought important innovations regarding their treatment. CONCLUSIONS: Many steps have been taken towards the treatment of these patients, and the humanity and professionalism of the pharmaceutical companies, along with the constant support of the patient's associations for rare diseases, have led to the discovery of new treatments and useful future findings.

14.
Front Neurol ; 14: 1320757, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38249739

RESUMO

Background: Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G. Case presentation: This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS. The patient came back 4 weeks after the diagnosis to the emergency department with massive bilateral pulmonary embolism with syncope at onset, acute cardiorespiratory failure, deep left femoral-popliteal vein thrombophlebitis, and altered neurological status. In the intensive care unit, he received mechanical ventilation through intubation. Significant improvement was seen after 2 weeks. The patient tested positive for inherited thrombophilia and was discharged in stable conditions on a new treatment with Rivaroxaban 20 mg/day. At 6 months of follow-up, ECG-Holter monitoring and MRI brain images remained unchanged. However, after 3 months, the patient died suddenly while sleeping at home. Conclusion: The genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death.

15.
Diagnostics (Basel) ; 12(11)2022 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-36428839

RESUMO

It has been almost a decade since the multinodular and vacuolating neuronal tumor (MVNT) was first described. In 2021, WHO classified it as a defined entity, and it is considered one of the glioneuronal and neuronal tumors. Due to its similarities with dysembryoplastic neuroepithelial tumors (DNET), some authors consider it a variant of these, ranking in the category of malformations, but genetic alterations favor a neoplastic origin. We present a 29-year-old male with a generalized onset tonic-clonic seizure after a nightclub party. Imaging studies revealed a right temporal multinodular and vacuolating neuronal tumor confirmed by biopsy. It is considered a nonaggressive, "leave me alone" brain lesion, which does not require biopsy because of well-defined MRI characteristics. Surgery is indicated only in symptomatic cases. We consider that this lesion was revealed by his seizure, most probably provoked (with normal video EEG recording) by the consumption of a lot of alcohol, illicit drugs, and sleep loss after a club party. We recommended close monitoring, but our patient preferred the surgery. Our case added more imaging details corroborated with the histopathology features of MVNT. FLAIR images revealed hypointense nodules surrounded by hyperintense peripheral rings and areas of high signal intensity between the nodules, which correspond to the histopathological architecture. To our knowledge, this is the first case of MVNT with diffusion tensor imaging and fiber tractography imaging studies.

16.
Life (Basel) ; 12(11)2022 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-36362839

RESUMO

Aphasia is an acquired central disorder of language that affects a person's ability to understand and/or produce spoken and written language, caused by lesions situated usually in the dominant (left) cerebral hemisphere. On one hand aphasia has a prevalence of 25-30% in acute ischemic stroke, especially in arterial infarcts. On the other hand, cerebral venous and dural sinuses thrombosis (CVT) remains a less common and underdiagnosed cause of ischemic stroke (0.5-1% of all strokes). Aphasia has been observed in almost 20% of patients who suffered CVT. The presence of aphasia is considered a negative predictive factor in patients with stroke, severe language disorders corresponding to arduous recovery. Taking into consideration data from the literature, aphasia is also considered a predictive factor for patients with CVT; its absences, together with the absence of worsening after admission, are determinants of complete recovery after CVT. This review has as the principal role of gathering current information from the literature (PubMed database 2012-2022) regarding the clinical features of aphasic syndromes and its incidence in patients with CVT. The main conclusion of this review was that aphasic syndromes are not usually the consequence of isolated thrombosis of dural sinuses or cerebral veins thrombosis. The most frequent form of CVT that determines aphasia is represented by the left transverse sinus thrombosis associated with a posterior left temporal lesion (due to left temporal cortical veins thrombosis), followed by the superior sagittal sinus thrombosis associated with a left frontal lesion (due to left frontal cortical veins thrombosis). Only a few cases are presenting isolated cortical veins thrombosis and left thalamus lesions due to deep cerebral vein thrombosis. We also concluded that the most important demographic factor was the gender of the patients, women being more affected than men, due to their postpartum condition.

17.
Medicina (Kaunas) ; 58(11)2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36363511

RESUMO

Background and Objectives: The purpose of this paper was to perform a literature review on the effects of the COVID-19 pandemic on cardiothoracic and vascular surgery care and departments. Materials and Methods: To conduct this evaluation, an electronic search of many databases was conducted, and the resulting papers were chosen and evaluated. Results: Firstly, we have addressed the impact of COVID-19 infection on the cardiovascular system from the pathophysiological and treatment points of view. Afterwards, we analyzed every cardiovascular disease that seemed to appear after a COVID-19 infection, emphasizing the treatment. In addition, we have analyzed the impact of the pandemic on the cardiothoracic and vascular departments in different countries and the transitions that appeared. Finally, we discussed the implications of the cardiothoracic and vascular specialists' and residents' work and studies on the pandemic. Conclusions: The global pandemic caused by SARS-CoV-2 compelled the vascular profession to review the treatment of certain vascular illnesses and find solutions to address the vascular consequences of COVID-19 infection. The collaboration between vascular surgeons, public health specialists, and epidemiologists must continue to investigate the impact of the pandemic and the response to the public health issue.


Assuntos
COVID-19 , Cirurgiões , Humanos , Pandemias , SARS-CoV-2
18.
Life (Basel) ; 12(8)2022 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-36013394

RESUMO

Cerebral venous thrombosis is a rare cause of stroke. Imaging is essential for diagnosis. Although digital subtraction angiography is still considered by many to be the gold standard, it no longer plays a significant role in the diagnosis of cerebral venous thrombosis. MRI, which allows for imaging the parenchyma, vessels and clots, and CT are the reference techniques. CT is useful in case of contraindication to MRI. After presenting the radio-anatomy for MRI, we present the different MRI and CT acquisitions, their pitfalls and their limitations in the diagnosis of cerebral venous thrombosis.

19.
Brain Sci ; 12(7)2022 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-35884709

RESUMO

The presence of neurological symptoms within the clinical range of COVID-19 disease infection has increased. This paper presents the situation of a 45-year-old man having the medical antecedent diabetes mellitus, who presented to the emergency department with fever, headache, and respiratory symptoms, nine days following vaccination with the Ad26.COV2-S COVID-19 vaccine. The patient tested positive for SARS-CoV-2 based on nasal polymerase chain reaction (RT-PCR). Two weeks after the presentation, he developed Tolosa-Hunt Syndrome, an autoimmune phenomenon, with painful left ophthalmoplegia. Significant improvement was seen in terms of his discomfort; however, ptosis and ocular mobility improved only moderately after treatment with intravenous methylprednisolone, and the patient was discharged on a new insulin regimen. The patient returned after four weeks and the neurological exam results showed significant signs of right hemiparesis, mixed aphasia, incomplete left ophthalmoplegia, severe headache, and agitation; after a few days, the patient experienced a depressed level of consciousness and coma. The patient's clinical condition worsened and, unfortunately, he died. MRI brain images revealed multiple ischemic strokes, meningitis, infectious vasculitis, and hemorrhagic encephalitis, which are all serious complications of COVID-19.

20.
Med Sci Monit ; 28: e936365, 2022 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-35729858

RESUMO

Stroke is a major source of morbidity and mortality worldwide, accounting for the second largest cause of mortality and the third greatest cause of disability. Stroke is frequently preceded by a transient ischemic attack (TIA). The etiologies of 20-30% of ischemic strokes are unknown, and thus are termed "cryptogenic strokes". About 25% of ischemic strokes are cardioembolic. Strokes occur at a rate of around 2% per year in individuals with heart failure with reduced ejection fraction (HFrEF), with a strong correlation between stroke risk and the degree of ventricular impairment. Furthermore, stroke risk is augmented in the absence of anticoagulation therapy. Cardioembolic strokes, when treated inadequately, have a greater predilection for recurrences than atherothrombotic strokes, both early and late in life. The role of a patent foramen ovale in strokes, specifically in "cryptogenic strokes", is a matter of concern that deserves due attention. The use of tissue-engineered heart valves and aspirin for minimizing the risk of stroke is recommended. Transthoracic echocardiography (TTE) is advantageous for assessing heart function in the acute phase of ischemic stroke. Transesophageal echocardiography (TEE) is considered the criterion standard procedure for detecting LAA thrombi. Computed tomography (CT) scans are good imaging modalities for identifying and excluding bleeding. Magnetic resonance imaging (MRI) images are by far the most effective imaging technique available for assessing the brain parenchymal state. We conducted a thorough review of the literature on the use of imaging modalities, highlighting the important contribution of TTE, TEE, CT, and MRI in the evaluation of cardioembolic stroke.


Assuntos
AVC Embólico , Insuficiência Cardíaca , Acidente Vascular Cerebral , Ecocardiografia Transesofagiana/efeitos adversos , Insuficiência Cardíaca/complicações , Humanos , Imageamento por Ressonância Magnética , Acidente Vascular Cerebral/etiologia , Volume Sistólico , Tomografia Computadorizada por Raios X/efeitos adversos
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