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1.
Healthcare (Basel) ; 12(7)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38610192

RESUMO

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting upper and lower motor neurons. Some ALS patients exhibit concomitant nonmotor signs; thus, ALS is considered a multisystemic disorder. Pain is an important nonmotor symptom. Observational and case-control studies report high frequency of pain in ALS patients and it has been correlated with depression and quality of life. There are no specific scales for the assessment of pain and no randomized controlled trials (RCTs) regarding the drug management of pain in ALS. AIM: To systematically review the evidence for the nonpharmacological interventions (NPIs) in relieving pain in ALS, on March 2024, we searched the following databases: Pubmed, Scopus, Web of Science, and Cochrane. We also checked the bibliographies of trials identified to include further published or unpublished trials. MAIN RESULTS: A total of 1003 records were identified. Finally, five RCTs including 131 patients (64 in the intervention group and 67 in the control group) were included for meta-analysis. The interventions of the included RCTs consisted of muscle exercise, combined aerobics-strength intervention, and osteopathic manual treatment. The meta-analysis did not find a statistically significant difference in favor of NPIs for alleviating pain in ALS patients. CONCLUSIONS: ALS has a fulminant course and irreversibly leads to death. Pain in ALS patients, although a common nonmotor symptom, is often unrecognized and undertreated, and this is underlined by the lack of any RCTs on drug therapy for pain. Albeit NPIs are considered safe, as adverse effects are rarely reported, this systematic review did not provide sufficient evidence for a beneficial effect on pain. The scarceness of relevant literature highlights the need for future studies, with larger samples, more homogeneous in terms of interventions and population characteristics (stage of disease), and better choice of measurement scales to further investigate the efficacy, if any, of various pain interventions in ALS patients.

2.
JBRA Assist Reprod ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38546119

RESUMO

OBJECTIVE: To evaluate the impact of double embryo vitrification on clinical outcomes. METHODS: This retrospective cohort study included data from January 2013 to March 2021. The study group included women aged 33.3±5.7 years with double-vitrified embryos (n=381), while the control group included women aged 32.1±6.7 years with embryos vitrified once (n=780), all transferred at the blastocyst stage. The primary endpoint was live birth rate (LBR), and secondary endpoints included percent positive ßHCG test, clinical/ongoing pregnancy rates, miscarriage/biochemical pregnancy rates and birthweight. RESULTS: LBR was significantly lower in double-vitrified embryos (30.2%) than in embryos vitrified once (45.6%, p<.05). Similarly, double-vitrified embryos were associated with significantly lower positive ßHCG tests (46% vs. 63.3%, p<.05) and clinical (34.9% vs. 52.2%, p<.05) and ongoing pregnancy (31.3% vs. 47.3%, p<.05) rates compared to embryos vitrified once. However, biochemical pregnancy (double vitrified: 24.1% vs. vitrified once: 17.9%, p>.05) and miscarriage rates (double vitrified: 10.2% vs. vitrified once: 9.4%, p>.05), as well as mean birthweight (double-vitrified embryos: 2950g vs. embryos vitrified once: 2837g, p>.05) did not differ significantly between two groups. On a secondary comparison, amongst double-vitrified embryos, the subgroup that was cultured for more than 24 hours between warming and second vitrification achieved significantly higher positive ßHCG tests (49%) and clinical pregnancy (38%) rates, compared to embryos re-vitrified on the same day of warming (31.8% and 20.5%, respectively, p<.05). Nevertheless, LBR did not differ significantly amongst these study-group embryos (embryos that remained in culture for more than 24 hours: 32.2% vs. embryos that were re-vitrified on warming day: 20.5%, p>.05). CONCLUSIONS: Double vitrification of embryos adversely affects clinical outcomes. However, it represents a valuable option concerning embryo wastage, with acceptable success rates.

3.
J Neuroimaging ; 34(1): 108-119, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37822030

RESUMO

BACKGROUND AND PURPOSE: Transorbital sonography (TOS) provides a noninvasive tool to detect intracranial pressure by assessing optic nerve sheath diameter (ONSD) and optic disc elevation (ODE). The utility of TOS in the diagnosis of idiopathic intracranial hypertension (IIH) has been increasingly recognized. METHODS: A single-center case-control study sought to compare TOS-acquired ONSD and ODE among IIH-cases versus patients with other neurological diseases (controls). Furthermore, a systematic review and meta-analysis was conducted to present pooled mean differences and diagnostic measures of ONSD and ODE between IIH-cases and controls. RESULTS: In the single-center study, consisting of 31 IIH-cases and 34 sex- and age-matched controls, ONSD values were higher among IIH-cases than controls (p<.001), while ODE was more prevalent in cases (65% vs. 15%; p<.001). The receiver-operating characteristic (ROC)-curve analysis revealed that the optimal cutoff value of ONSD for predicting IIH was 5.15 mm, with an area under the curve (AUC) of 0.914 (95% confidence interval [CI]: 0.861-0.967) and sensitivity and specificity values of 85% and 90%, respectively. In a meta-analysis of 14 included studies with 415 IIH-cases, ONSD and ODE values were higher in IIH-cases than controls (mean difference in ONSD 1.20 mm; 95% CI: 0.96-1.44 mm and in ODE 0.3 mm; 95% CI: 0.33-0.67 mm). With regard to ONSD, pooled sensitivity, specificity, and diagnostic odds ratio were calculated at 85.5% (95% CI: 77.9-90.8%), 90.7% (95% CI: 84.6-94.5%), and 57.394 (95% CI: 24.597-133.924), respectively. The AUC in summary ROC-curve analysis was 0.878 (95% CI: 0.858-0.899) with an optimal cutoff point of 5.0 mm. CONCLUSIONS: TOS has a high diagnostic utility for the noninvasive diagnosis of IIH and may deserve wider implementation in everyday clinical practice.


Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Humanos , Pseudotumor Cerebral/diagnóstico por imagem , Estudos de Casos e Controles , Nervo Óptico/diagnóstico por imagem , Ultrassonografia/métodos , Pressão Intracraniana
4.
J Neurosci Res ; 101(12): 1773-1780, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37621200

RESUMO

Multiple Sclerosis (MS) is a chronic inflammatory, autoimmune disease of the Central Nervous System with a vast spectrum of clinical phenotypes. A major aspect of its clinical presentation is cerebellar ataxia where physiotherapy and treatment modalities play a significant role on its management. This systematic review aims to investigate the physiotherapeutic rehabilitation techniques regarding the management of cerebellar ataxia due to MS and secondary to stratify each protocol as part of a multi structural personalized rehabilitation approach based on the gravity of the symptoms. A Pubmed Medline, Scopus and Web of Science research was performed using the corresponding databases. The results were screened by the authors in pairs. In our study, six (6) non-pharmacological interventional protocols, 3 Randomized Controlled Trials and 3 pilot studies, were included with a total of 145 MS patients. Physiotherapeutic techniques, such as NDT-Bobath, robotic and visual biofeedback re-education protocols and functional rehabilitation techniques were included. In most cases cerebellar ataxic symptoms were decreased post-treatment. The overall quality of the studies included was of moderate level (level B). Rehabilitation in cerebellar ataxia due to MS should be based on multicentric studies with the scope of adjusting different types of treatments and physiotherapeutic techniques based on the severity of the symptom.

5.
Front Immunol ; 14: 1212757, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37564637

RESUMO

Muscle-specific kinase (MuSK) Myasthenia Gravis (MG) represents a prototypical antibody-mediated disease characterized by predominantly focal muscle weakness (neck, facial, and bulbar muscles) and fatigability. The pathogenic antibodies mostly belong to the immunoglobulin subclass (Ig)G4, a feature which attributes them their specific properties and pathogenic profile. On the other hand, acetylcholine receptor (AChR) MG, the most prevalent form of MG, is characterized by immunoglobulin (Ig)G1 and IgG3 antibodies to the AChR. IgG4 class autoantibodies are impotent to fix complement and only weakly bind Fc-receptors expressed on immune cells and exert their pathogenicity via interfering with the interaction between their targets and binding partners (e.g. between MuSK and LRP4). Cardinal differences between AChR and MuSK-MG are the thymus involvement (not prominent in MuSK-MG), the distinct HLA alleles, and core immunopathological patterns of pathology in neuromuscular junction, structure, and function. In MuSK-MG, classical treatment options are usually less effective (e.g. IVIG) with the need for prolonged and high doses of steroids difficult to be tapered to control symptoms. Exceptional clinical response to plasmapheresis and rituximab has been particularly observed in these patients. Reduction of antibody titers follows the clinical efficacy of anti-CD20 therapies, a feature implying the role of short-lived plasma cells (SLPB) in autoantibody production. Novel therapeutic monoclonal against B cells at different stages of their maturation (like plasmablasts), or against molecules involved in B cell activation, represent promising therapeutic targets. A revolution in autoantibody-mediated diseases is pharmacological interference with the neonatal Fc receptor, leading to a rapid reduction of circulating IgGs (including autoantibodies), an approach already suitable for AChR-MG and promising for MuSK-MG. New precision medicine approaches involve Chimeric autoantibody receptor T (CAAR-T) cells that are engineered to target antigen-specific B cells in MuSK-MG and represent a milestone in the development of targeted immunotherapies. This review aims to provide a detailed update on the pathomechanisms involved in MuSK-MG (cellular and humoral aberrations), fostering the understanding of the latest indications regarding the efficacy of different treatment strategies.


Assuntos
Imunoglobulina G , Miastenia Gravis , Humanos , Autoanticorpos , Imunoterapia , Receptores Proteína Tirosina Quinases , Receptores Colinérgicos
6.
Brain Sci ; 13(7)2023 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-37509042

RESUMO

This randomized controlled trial aims to investigate the effect of 12 weeks of therapeutic exercise on cognitive function and daily activities in patients with mild Alzheimer's disease (AD). A total of 171 patients with mild AD from the Amarousion Day Care Center of the Alzheimer Society of Athens and the Athens General Hospital "G. Gennimatas" were randomly divided into three groups. Group A (aerobic and resistance exercise, n = 57), group B (resistance exercise, n = 57), and group C (control group, n = 57). Group A followed a weekly program consisting of 5 days with 30 min walking and 3 days with resistance exercises for about 45 min. Group B followed only a resistance exercise program, the same as group A. Group C did not participate in any exercise program. After the intervention, cognitive function was assessed with the Cognitive Examination-Revised (ACE-R), Trail Making Test A-B (TMT A-B), and Digit Span Test Forward and Backward (DST F-B) and daily activities with the instrumental activities of daily living scale (IADLs). A significant intervention effect was observed for all outcome measures (global cognitive function and instrumental activities of daily living). ANCOVA Bonferroni corrected post hoc tests revealed that the aerobic and resistance group improved compared to the control group on all measurement scales. The resistance group also showed an improvement compared to the control group. No significant effects were found between the aerobic and resistance group and the resistance group in any of the outcome measures.

7.
Neurohospitalist ; 13(3): 303-307, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37435091

RESUMO

Acute exacerbations of Myasthenia Gravis (MG) may be triggered by infections and certain drugs. No consensus has been reached on vaccines and the risk for developing myasthenic crisis. During the COVID-19 pandemic, MG patients are considered at high risk for severe illness, and vaccination is strongly recommended. We report the case of a 70-year-old woman with MG, diagnosed 2 years earlier, that developed myasthenic crisis 10 days after the second dose of the BNT162b2 mRNA COVID-19 vaccine (Pfizer-BioNTech). The patient had no previous MG exacerbations in her history. Following increase of oral pyridostigmine and prednisone treatment, the patient underwent immunoglobulin and plasma exchange therapy. Due to persisting symptoms, immunotherapy was switched to rituximab, under which a clinical remission was achieved. MG patients infected with SARS-CoV-2 may develop severe acute respiratory distress syndrome and have a higher mortality compared to the general population. In addition, reports of new-onset MG following COVID-19 infection accumulate. By contrast, since the beginning of the vaccination program, only 3 cases of new-onset MG after COVID-19 vaccinations have been published and 2 cases of severe MG exacerbation. Vaccinations in MG patients have always been debated, but most studies confirm their safety. In the era of COVID-19 pandemic, vaccination protects against infection and severe illness, especially in vulnerable populations. The rare occurrence of side effects should not discourage clinicians from recommending COVID-19 vaccination, but close follow-up of MG patients is recommended during the post-vaccination period.

9.
BMJ Case Rep ; 16(5)2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37202111

RESUMO

Patients with inflammatory bowel disease (IBD) may present with extraintestinal manifestations. Neurological symptoms associated with IBD are infrequent. Thus, any unexplained neurological symptom that occurs in patients with IBD should raise the suspicion of a link between the two disorders. We report a case of a man in his 60s, who was diagnosed with Crohn's disease and developed ptosis and diplopia. Neurological examination revealed oculomotor nerve palsy, sparing the pupil. MRI and magnetic resonance angiography of the brain were insignificant and no other cause was determined. He was treated with oral corticosteroids and symptoms gradually subsided. Cranial nerve palsies associated with IBD have been rarely reported. They usually involve the optic and acoustic nerve and are attributed to a common dysimmune base. This is the first reported case of oculomotor nerve palsy (III cranial nerve) associated with IBD. Clinicians treating patients with IBD should be alert for unusual neurological complications and treat them appropriately.


Assuntos
Doenças dos Nervos Cranianos , Doença de Crohn , Doenças Inflamatórias Intestinais , Doenças do Nervo Oculomotor , Masculino , Humanos , Doença de Crohn/complicações , Doenças do Nervo Oculomotor/diagnóstico , Doenças dos Nervos Cranianos/complicações , Imageamento por Ressonância Magnética , Doenças Inflamatórias Intestinais/complicações , Nervo Oculomotor
10.
J Neuroimaging ; 33(4): 582-589, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37147184

RESUMO

BACKGROUND AND PURPOSE: Cerebral small vessel disease is a common manifestation among patients with Fabry disease (FD). As a biomarker of cerebral small vessel disease, the prevalence of impaired cerebral autoregulation as assessed by transcranial Doppler (TCD) ultrasonography was evaluated in FD patients and healthy controls. METHODS: TCD was performed to assess pulsatility index (PI) and vasomotor reactivity expressed by breath-holding index (BHI) for the middle cerebral arteries of included FD patients and healthy controls. Prevalence of increased PI (>1.2) and decreased BHI (<0.69) and ultrasound indices of cerebral autoregulation were compared in FD patients and controls. The potential association of ultrasound indices of impaired cerebral autoregulation with white matter lesions and leukoencephalopathy on brain MRI in FD patients was also evaluated. RESULTS: Demographics and vascular risk factors were similar in 23 FD patients (43% women, mean age: 51 ± 13 years) and 46 healthy controls (43% women, mean age: 51 ± 13 years). The prevalence of increased PI (39%; 95% confidence interval [CI]: 20%-61%), decreased BHI (39%; 95% CI: 20%-61%), and the combination of increased PI and/or decreased BHI (61%; 95% CI: 39%-80%) was significantly (p < .001) higher in FD patients compared to healthy controls (2% [95% CI: 0.1%-12%], 2% [95% CI: 0.1%-12%], and 4% [95% CI: 0.1%-15%], respectively). However, indices of abnormal cerebral autoregulation were not associated independently with white matter hyperintensities and presented a low-to-moderate predictive ability for the discrimination of FD patients with and without white matter hyperintensities. CONCLUSIONS: Impaired cerebral autoregulation as assessed by TCD appears to be highly more prevalent among FD patients compared to healthy controls.


Assuntos
Doenças de Pequenos Vasos Cerebrais , Doença de Fabry , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Masculino , Estudos de Casos e Controles , Doença de Fabry/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana/métodos , Artéria Cerebral Média/diagnóstico por imagem , Homeostase/fisiologia , Circulação Cerebrovascular/fisiologia
11.
Clin Neurophysiol ; 149: 61-69, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36907099

RESUMO

OBJECTIVE: To study the ability of image analysis measures to quantify echotexture changes of median nerve in order to provide a complementary diagnostic tool in CTS. METHODS: Image analysis measures (gray level co-occurrence matrix (GLCM), brightness, hypoechoic area percentage using max entropy and mean threshold) were calculated in normalized images of 39 (19 younger and 20 older than 65y) healthy controls and 95 CTS patients (37 younger and 58 older than 65y). RESULTS: Image analysis measures were equivalent or superior (older patients) to subjective visual analysis. In younger patients, GLCM measures showed equivalent diagnostic accuracy with cross sectional area (CSA) (Area Under Curve (AUC for inverse different moment = 0.97). In older patients all image analysis measures showed similar diagnostic accuracy to CSA (AUC for brightness = 0.88). Moreover, they had abnormal values in many older patients with normal CSA values. CONCLUSIONS: Image analysis reliably quantifies median nerve echotexture alterations in CTS and offers similar diagnostic accuracy to CSA measurement. SIGNIFICANCE: Image analysis may offer added value to existing measures in the evaluation of CTS, especially in older patients. Its clinical implementation would require incorporation of mathematically simple software code for online nerve image analysis in ultrasound machines.


Assuntos
Síndrome do Túnel Carpal , Nervo Mediano , Humanos , Idoso , Nervo Mediano/diagnóstico por imagem , Síndrome do Túnel Carpal/diagnóstico por imagem , Sensibilidade e Especificidade , Ultrassonografia/métodos , Processamento de Imagem Assistida por Computador
12.
Healthcare (Basel) ; 11(5)2023 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-36900682

RESUMO

Dementia causes deterioration in cognitive and physical functions. The scope of this study is to investigate the effect of different exercise programs on cognitive functions and functionality of persons suffering from mild Alzheimer's disease (AD) by generating information on the exercise types and their parameters. A randomized controlled trial (RCT) will be performed involving aerobic and resistance exercise interventions, taking place both at the sample collection center and at home. Participants will be randomly divided into two different intervention groups and a control group. All groups will be assessed twice; once at baseline and once after 12 weeks. The primary outcome shall comprise the effect of exercise programs on cognitive functions using cognitive testing, such as Addenbrooke's Cognitive Examination-Revisited (ACE-R), Mini Mental State Examination (MMSE), Trail Making Test A-Β (TMT A-B), and Digit Span Test (DST): Digit Span Forward (DSF) and Digit Span Backward (DSB). The effect on functionality will be assessed using the Senior Fitness Test (SFT), Berg Balance Scale (BBS), and Instrumental Activities of Daily Living Scale (IADL) questionnaire. Secondary outcomes include the effect of exercise on depression using the Geriatric Depression Scale-15 (GDS-15), on physical activity using the International Physical Activity Questionnaire (IPAQ), as well as the participants' compliance with the intervention. This study will investigate the possible effect of intervention of different exercise types and the comparison between them. Exercise forms a low-cost and reduced-risk intervention.

13.
In Vivo ; 37(1): 47-56, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36593011

RESUMO

BACKGROUND/AIM: Chemotherapy-induced peripheral neuropathy (CIPN) is a common side effect of cancer treatment, resulting in pain, numbness, instability, and thus affecting quality of life (QoL), occasionally leading to discontinuation of chemotherapy. Pharmacological treatments are not sufficient. Non-pharmacological interventions (NPIs) have also been tried. This study aimed to systematically review the efficacy of NPIs on pain and QoL in patients suffering from CIPN. MATERIALS AND METHODS: The databases searched were Pubmed, Cohrane, and Scopus for randomized controlled trials (RCTs) published in the last 5 years (2017-2022). Studies were considered eligible, if they assessed adult patients suffering from CIPN because of any chemotherapeutic drug for any type and any stage of cancer and if study protocols included non-pharmacological intervention with a structured protocol. RESULTS: A total of 1,496 records were identified. Finally, 10 RCTs including 495 patients (253 in the intervention group and 242 in the control group) were included for meta-analysis. Intervention protocols included acupuncture (n=6), exercise (n=3), and yoga (n=1). NPIs significantly reduced neuropathic pain. However, the effect on QoL was not significant. CONCLUSION: NPIs are beneficial in the treatment of pain in patients with CIPN but their impact on QoL is not statistically supported. Larger sample sizes, more homogenous in outcome measures and interventions are needed to further explore NPIs' efficacy on CIPN symptoms.


Assuntos
Antineoplásicos , Neoplasias , Neuralgia , Polineuropatias , Adulto , Humanos , Antineoplásicos/uso terapêutico , Neoplasias/complicações , Neoplasias/tratamento farmacológico , Polineuropatias/terapia , Polineuropatias/tratamento farmacológico , Neuralgia/induzido quimicamente , Neuralgia/terapia , Qualidade de Vida
14.
Curr Neuropharmacol ; 21(3): 440-456, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35652398

RESUMO

BACKGROUND: Fabry disease (FD) is an inherited lysosomal storage disorder, leading to multisystemic manifestations and causing significant morbidity and mortality. OBJECTIVE: The aim of this narrative review is to present the current and novel therapeutic strategies in FD, including symptomatic and specific treatment options. METHODS: A systematic literature search was conducted to identify relevant studies, including completed and ongoing randomized-controlled clinical trials (RCTs), prospective or retrospective cohort studies, case series and case reports that provided clinical data regarding FD treatment. RESULTS: A multidisciplinary symptomatic treatment is recommended for FD patients, personalized according to disease manifestations and their severity. During the last two decades, FD-specific treatments, including two enzyme-replacement-therapies (agalsidase alfa and agalsidase beta) and chaperone treatment with migalastat have been approved for use and allowed for symptoms' stabilization or even disease burden reduction. More therapeutic agents are currently under investigation. Substrate reduction therapies, including lucerastat and venglustat, have shown promising results in RCTs and may be used either as monotherapy or as complementary therapy to established enzymereplacement- therapies. More stable enzyme-replacement-therapy molecules that are associated with less adverse events and lower likelihood of neutralizing antibodies formation have also been developed. Ex-vivo and in-vivo gene therapy is being tested in animal models and pilot human clinical trials, with preliminary results showing a favorable safety and efficacy profile. CONCLUSION: The therapeutic landscape in FD appears to be actively expanding with more treatment options expected to become available in the near future, allowing for a more personalized approach in FD patients.


Assuntos
Doença de Fabry , Animais , Humanos , Doença de Fabry/tratamento farmacológico , Doença de Fabry/etiologia , 1-Desoxinojirimicina/uso terapêutico , Terapia de Reposição de Enzimas/efeitos adversos , Terapia de Reposição de Enzimas/métodos
15.
Eur J Neurol ; 30(1): 255-265, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36086910

RESUMO

BACKGROUND AND PURPOSE: Primary Sjögren syndrome (pSS) is a chronic, systemic, autoimmune disorder characterized by lymphocytic infiltrates of the exocrine organs, leading to sicca symptoms and parotid enlargement. pSS has been linked to various neurological manifestations, including peripheral neuropathy (PN). We aimed to provide a comprehensive analysis of the currently available evidence regarding pSS-related PN. METHODS: A literature search in the PubMed database was performed, and 49 papers were eligible to be included in this systematic review and meta-analysis. RESULTS: The pooled prevalence of PN in pSS is estimated to be 15.0% (95% confidence interval = 10.7%-20.7%). The mean age of pSS patients at PN diagnosis is 59 years. Among the patients with pSS and PN, 83% are females. Neuropathic symptoms usually precede or lead to the pSS diagnosis at a 2:1 ratio in patients with pSS-related PN. The commonest type of pSS-related PN is distal axonal polyneuropathy (80% of patients with pSS-related PN), followed by sensory ganglionopathy. Peripheral and cranial mononeuropathies-particularly trigeminal-are also frequent. Risk factors for developing PN include increasing age and presence of vasculitis. Immune-mediated pathogenetic mechanisms are discussed. Glucocorticoids are the most commonly used treatment option for managing pSS-related PN, when associated with vasculitis, followed by the use of intravenous immunoglobulin. CONCLUSIONS: PN is very common in pSS patients. Evidence on long-term prognosis of PN in pSS is limited, and further research is needed. Research into the use of immunosuppressive medication in nonvasculitic neuropathies in the context of pSS merits further consideration.


Assuntos
Doenças do Sistema Nervoso Periférico , Síndrome de Sjogren , Vasculite , Feminino , Humanos , Pessoa de Meia-Idade , Masculino , Síndrome de Sjogren/complicações , Síndrome de Sjogren/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/complicações , Vasculite/complicações , Imunoglobulinas Intravenosas
16.
Neurology ; 99(19): e2188-e2200, 2022 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-36344272

RESUMO

BACKGROUND AND OBJECTIVES: There is accumulating evidence in the literature indicating a strong correlation between Fabry disease (FD) phenotypes and specific sequence variations in the Galactosidase Alpha (GLA) gene. Among them, the potential pathogenicity and clinical relevance of D313Y variation in patients with FD remain debated. METHODS: We performed a systematic review and meta-analysis of studies reporting D313Y as single occurring variant in the GLA gene and sought to evaluate (1) the prevalence of D313Y variation in different populations with or without clinical manifestations of FD, (2) the clinical FD phenotype in D313Y-positive patients, and (3) the proportion of D313Y-positive patients presenting abnormal laboratory findings (alpha-galactosidase-A deficiency or globotriaosylceramide accumulation). RESULTS: Forty cohorts comprising 211 individuals with D313Y variation among 42,723 participants with available GLA gene-sequencing data were included. Patients highly suspected for FD had a higher prevalence of D313Y variation (4.9%, 95% CI 1.6%-9.9%; I2 = 95.5%) compared with the general population (0%, 95% CI 0%-0.1%; I2 = 1.9%; p = 0.004). The prevalence of D313Y variation was 0.6% (95% CI 0.3%-1%; I2 = 74.1%), 0.4% (95% CI 0.2%-0.7%; I2 = 0%), and 0.3% (95% CI 0.2%-0.4%; I2 = 0%) in patients presenting with neurologic, cardiac, or renal manifestations, respectively. D313Y was associated with a milder, late-onset FD phenotype, as indicated by the mean patient age of 51 years (95% CI 44-59; I2 = 94%) and the evidence of alpha-galactosidase A deficiency and globotriaosylceramide accumulation in 26.7% (95% CI 15.3%-40%; I2 = 34%) and 16.2% (95% CI 8%-26.4%; I2 = 35%) of cases, respectively. D313Y-positive patients displayed predominantly neurologic FD manifestations (58.1%, 95% CI 37.7%-77.1%; I2 = 78%), with central and peripheral nervous system (CNS/PNS) involvement noted in 28.2% (95% CI 15.4%-43.2%; I2 = 51%) and 28.5% (95% CI 17.8%-40.5%; I2 = 61%) of cases, respectively. DISCUSSION: D313Y variation seems to correlate with an atypical, mild late-onset phenotype with predominantly neurologic FD manifestations. Monitoring for CNS/PNS involvement is thus paramount to identify D313Y-positive patients with latent or early-FD pathology, which may qualify for enzyme-replacement therapy or chaperone treatment.


Assuntos
Doença de Fabry , Humanos , Doença de Fabry/epidemiologia , Doença de Fabry/genética , alfa-Galactosidase/genética , Mutação/genética , Triexosilceramidas
17.
BMJ Case Rep ; 15(7)2022 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-35878966

RESUMO

Local anaesthesia in dental procedures is considered safe. Few cases of neurological complication have been reported, most of which involve the lingual or inferior alveolar nerve. We report a case of a woman in her late 40s who 30 min after administration of local anaesthetic in the right pterygomandibular space (articaine and mepivacaine) developed nasal speech and numbness in the area around external auditory meatus. Uvula was deviated to the left. No facial palsy or diplopia were observed. The symptoms subsided gradually after 3 hours. Clinical symptoms were attributed to glossopharyngeal nerve palsy. Glossopharyngeal nerve palsy after mandibular nerve block has never been reported before. Reporting cases of neurological complications of a very common and generally safe procedure help in increasing the awareness of potential risks considering the anatomical complexity and variability of the orofacial area.


Assuntos
Paralisia Facial , Doenças do Nervo Glossofaríngeo , Bloqueio Nervoso , Anestésicos Locais/efeitos adversos , Carticaína , Feminino , Nervo Glossofaríngeo , Humanos , Nervo Mandibular , Bloqueio Nervoso/efeitos adversos , Bloqueio Nervoso/métodos
18.
Asian J Psychiatr ; 73: 103175, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35644079

RESUMO

This longitudinal study aimed to examine the within-person changes in suicidal ideation, depression, and anxiety between the first wave of COVID-19 pandemic and the third wave (i.e., one year later), while nationwide lockdowns were in effect. Among 720 respondents, 4.72% presented suicidal ideation, which appeared unaltered one-year post-pandemic onset, while both depression (21.25% versus 28.06%) and anxiety (12.08% versus 18.47%) increased significantly, adjusting for gender, age, and mental health history. Suicidal ideation, depression, and anxiety during the third pandemic wave were independently associated with crucial socio-demographic, clinical, psychological and psychopathological variables, in the stepwise regression analyses performed.


Assuntos
COVID-19 , Ansiedade/epidemiologia , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Depressão/epidemiologia , Depressão/psicologia , Humanos , Estudos Longitudinais , Pandemias , SARS-CoV-2 , Ideação Suicida
19.
J Clin Med ; 11(9)2022 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-35566416

RESUMO

Lateral elbow tendinopathy (LET) seems to be the most appropriate term to use in clinical practice because previous terms such as lateral epicondylitis, tennis elbow, lateral epicondylalgia, epicondylosis, enthesopathy, Father of the Bride's Elbow, lateral elbow or extensor tendonitis, lateral elbow or extensor tendinosis, and extensor tendinopathy make reference to inappropriate aetiological, anatomical, and pathophysiological terms [...].

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