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BACKGROUND AND PURPOSE: Primary lateral sclerosis (PLS) is a neurodegenerative disorder that primarily affects the central motor system. In rare cases, clinical features of PLS may overlap with those of progressive supranuclear palsy (PSP). We investigate neuroimaging features that can help distinguish PLS with overlapping features of PSP (PLS-PSP) from PSP. METHODS: Six patients with PLS-PSP were enrolled between 2019 and 2023. We compared their clinical and neuroimaging characteristics with 18 PSP-Richardson syndrome (PSP-RS) patients and 20 healthy controls. Magnetic resonance imaging, 18F-flortaucipir positron emission tomography (PET), quantitative susceptibility mapping, and diffusion tensor imaging tractography (DTI) were performed to evaluate eight brain regions of interest. Area under the receiver operating characteristic curve (AUROC) was calculated. RESULTS: Five of the six PLS-PSP patients (83.3%) were male. Median age at symptom onset was 61.5 (52.5-63) years, and all had mixed features of PLS and PSP. Volumes of the pallidum, caudate, midbrain, and cerebellar dentate were smaller in PSP-RS than PLS-PSP, providing good discrimination (AUROC = 0.75 for all). The susceptibilities in pallidum, midbrain, and cerebellar dentate were greater in PSP-RS compared to PLS-PSP, providing excellent discrimination (AUROC ≥ 0.90 for all). On DTI, fractional anisotropy (FA) in the posterior limb of the internal capsule from the corticospinal tract was lower in PLS-PSP compared to PSP-RS (AUROC = 0.86), but FA in the superior cerebellar peduncle was lower in PSP-RS (AUROC = 0.95). Pallidum flortaucipir PET uptake was greater in PSP-RS compared to PLS-PSP (AUROC = 0.74). CONCLUSIONS: Regional brain volume, tractography, and magnetic susceptibility, but not tau-PET, are useful in distinguishing PLS-PSP from PSP.
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Imagem de Tensor de Difusão , Tomografia por Emissão de Pósitrons , Paralisia Supranuclear Progressiva , Humanos , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Paralisia Supranuclear Progressiva/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Imagem de Tensor de Difusão/métodos , Idoso , Neuroimagem/métodos , Imageamento por Ressonância Magnética , Diagnóstico Diferencial , Encéfalo/diagnóstico por imagem , Encéfalo/patologiaRESUMO
INTRODUCTION: Psychological interventions are shown to be effective in migraine, but not utilized routinely yet. We aimed to evaluate the efficacy of transdiagnostic cognitive behavioral therapy (TCBT) on people with migraine (PwM). METHOD: This study was conducted on 40 PwM aged 20-50 years. We randomly assigned participants to two groups of intervention, receiving 10 sessions of TCBT, and control, attending one session on relaxation and stress-management techniques. Days with headache, headache severity, migraine-related disability and effects on daily life, number of pain-relivers taken for headache, depression, and anxiety were assessed pre-intervention, post-intervention (three-month follow-up), and one-month after TCBT termination (four-month follow-up). RESULTS: Thirty-five participants suffering moderate to severe migraine completed the study (16 and 19 in TCBT and control groups, respectively). TCBT improved all measured items between study time-points (p < 0.05) in the intervention group, while such an improvement was not observed in the control group. Between group comparisons revealed superiority of TCBT group compared to the control group in most measured items at three- and four-month follow-ups (p < 0.05). CONCLUSION: Ten sessions of TCBT improved migraine severity, associated disability, anxiety, and depression in PwM, with persistent effects after one month of therapy termination. However, the generalizability of these findings is limited due to the placebo effect in the intervention arm, given the more time each participant has spent with the therapist. TCBT could be an affordable, practical, and feasible intervention to be utilized for PwM and larger studies with equal number of sham therapy sessions are needed to further explore this. TRIAL REGISTRATION NUMBER: The study protocol was registered in clinicaltrial.gov ( NCT03701477 ) prior to enrollment.
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Terapia Cognitivo-Comportamental , Transtornos de Enxaqueca , Adulto , Transtornos de Ansiedade , Terapia Cognitivo-Comportamental/métodos , Estudos de Viabilidade , Cefaleia/terapia , Humanos , Pessoa de Meia-Idade , Transtornos de Enxaqueca/terapia , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVES: Ischemic stroke is the most common presentation of cervical artery dissection (CAD). Information regarding CAD-induced stroke is scarce, especially in the Middle East. Here we investigated the incidence of CAD-induced stroke, its characteristics, and the clinical course in central Iran. METHODS: This is an observational study conducted in the city of Isfahan, Iran. We recruited patients with ischemic stroke during 2017-2019. We analyzed characteristics of the CAD-induced stroke patients with regards to the involved vessel (internal carotid artery dissection (ICAD) or vertebral artery dissection (VAD)). We assessed functional outcome (modified Rankin Scale [mRS]) and recanalization status after 1 year of follow-up. RESULTS: Among 3630 ischemic stroke patients, 51(1.4%) had CAD-induced stroke (mean age: 41.8 ± 12.6; 40.4% female; 28 and 19 ICAD and VAD cases, respectively). The crude incidence rate of CAD-induced stroke was 1.20/100,000/year (0.66/100,000/year and 0.45/100,000/year for strokes due to ICAD and VAD, respectively). mRS ≤ 2 was present in 63.8% of the patients after 1 year of follow-up. History of exercise during the last days before stroke occurrence was associated with a better follow-up mRS (ß = -3.1, p-value: 0.037). Administration of anticoagulant or double-antiplatelets was related neither to mRS nor recanalization results. Trauma (27.7%), smoking (21.3%), and headache disorders/migraine (21.3%) were the most common reported factors. CONCLUSION: We found a crude incidence rate of 1.20/100,000/year for CAD-induced stroke. Trauma, smoking, and headache disorders were the most common reported factors among our patients. CAD-induced stroke had a favorable long-term prognosis regardless of the type of the involved vessel or the used medication.
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Dissecação da Artéria Carótida Interna , Transtornos Cerebrovasculares , AVC Isquêmico , Transtornos de Enxaqueca , Acidente Vascular Cerebral , Dissecação da Artéria Vertebral , Adulto , Artérias , Dissecação da Artéria Carótida Interna/complicações , Dissecação da Artéria Carótida Interna/epidemiologia , Transtornos Cerebrovasculares/complicações , Feminino , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/complicações , Prognóstico , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia , Dissecação da Artéria Vertebral/complicações , Dissecação da Artéria Vertebral/epidemiologiaRESUMO
BACKGROUND: Several studies showed that parenting intervention programs play a core component in early child development. Considering the limited healthcare resources in developing countries, group-session intervention based on care for child development (CCD) guideline might be cost-effective. METHODS: This randomized controlled trial was conducted at an outpatient public Pediatrics clinic in Isfahan, Iran. We included 210 pregnant women aged 18-45 years in their third trimester and followed their children for 18 months. The intervention group underwent 5 educational group sessions, each lasting for almost 45 minutes. The main outcomes were the children's development and socio-emotional behavior problems based on Bayley Scales of Infant and Toddler Development-III (BSID-III) at 12 months and the Children Behavior Checklist (CBCL) at 18 months. RESULTS: Overall, data of 181 children were included in the current study, including 80 in the intervention group and 101 controls. The adjusted median/mean differences between intervention and control groups using median/linear regression were not significant for all BSID-III domains except for median differences for cognitive score based on BSID-III (ß (SE): - 4.98(2.31), p:0.032) and mean differences for anxiety/depression score based on CBCL (ß (SE): - 2.54(1.27), p:0.046). CONCLUSION: In this study, parenting interventions through CCD group sessions were significantly effective on just one subscale of children's socio-emotional behavior domains based on CBCL and one domain of children's development based on BSID-III. There might be a ceiling or floor effects for the BSID-III and CBCL assessment, respectively, leaving little room for improvement as almost all children have achieved their full developmental potential in our study. TRIAL REGISTRATION: IRCT20190128042533N2, Date of registration: 16/01/2020, www.irct.ir.
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Poder Familiar , Comportamento Problema , Gravidez , Lactente , Feminino , Humanos , Criança , Desenvolvimento Infantil , Emoções , AnsiedadeRESUMO
Background: Survival and prognostic factors following stroke occurrence differ between world regions. Studies investigating stroke features in the Middle-east region are scarce. We aimed to investigate 1-year survival and related prognostic factors of stroke patients in Central Iran. Materials and Methods: It is an observational analytical study conducted on patients registered in the Persian Registry of Cardiovascular Disease-Stroke (PROVE-Stroke) database. Records of 1703 patients admitted during 2015-2016 with the primary diagnosis of stroke in all hospitals of Isfahan, Iran were reviewed. Information regarding sociodemographic characteristics, clinical presentations, medications, and comorbidities were recorded. The living status of patients after 1 year from stroke was considered as 1-year survival. Results: Among 1345 patients with the final diagnosis of stroke, 970 (72.1%) were alive at the 1 year follow-up and the mean survival time based on Kaplan-Meier procedure was estimated 277.33 days. The hemorrhagic and ischemic types of stroke were reported in 201 (15.0%) and 1141 (84.8%) patients, respectively. Age (hazard ratio [HR] = 1.07, 95% confidence interval [CI] = 1.05-1.09), diabetes (HR = 1.49, 95% CI = 1.07-2.06), history of stroke or transient ischemic attack (HR = 1.81, 95% CI = 1.30-2.52), history of warfarin usage (HR = 1.73, 95% CI = 1.11-2.71), hospital complications of hemorrhage (HR = 3.89, 95% CI = 2.07-7.31), sepsis (HR = 1.78, 95% CI = 1.18-2.68), and hydrocephalus (HR = 3.43, 95% CI = 1.34-8.79), and modified Rankin Scale (mRS) ≥3 at the time of hospital dicharge (HR = 1.98, 95% CI = 1.27-3.07), were predictors of 1-year survival. Conclusion: Predictors of 1-year survival can be categorized into unchangeable ones, such as age, diabetes, previous stroke, and mRS. The changeable factors, such as hospital complications of infection and hemorrhage, guide physicians to pay greater attention to reduce the risk of mortality following stroke.
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BACKGROUND: Treatment options for secondary progressive multiple sclerosis (SPMS) are limitedly investigated. We aimed to compare the efficacy of rituximab (RTX) and glatiramer acetate (GA) in SPMS patients. METHOD: This open, randomized clinical trial was conducted on 84 SPMS patients, assigned to receive RTX or GA for 12 months. In RTX group, patients received 1 g intravenous RTX primarily and then every 6-months. In GA group, patients received 40 mg of GA 3-times/week subcutaneously. We measured EDSS as the primary outcome and neuroimaging findings, relapse rate (RR), and side effects as the secondary outcomes. RESULTS: Seventy-three patients completed the study (37 and 36 in RTX and GA groups, respectively). The mean EDSS increased from 3.05 ± 1.01 to 4.14 ± 0.91 in RTX group (p < 0.001) and from 3.22 ± 1.20 to 4.60 ± 0.67 in GA group (p < 0.001). No statistically significant difference was observed in EDSS between two groups (F(1, 67) = 3.377; p = 0.071). The number of active lesions in brain and cervical spine decreased with no difference between groups (p > 0.05). Also, RR decreased in both groups without significant difference between them (F(1, 67) = 0.390; p = 0.534). Non-serious complications were observed in both groups. CONCLUSION: Neither RTX nor GA affects EDSS in SPMS patients. They are equally effective in the relapse control of these patients.
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Acetato de Glatiramer/uso terapêutico , Imunossupressores/uso terapêutico , Esclerose Múltipla Crônica Progressiva/tratamento farmacológico , Rituximab/uso terapêutico , Adulto , Feminino , Acetato de Glatiramer/administração & dosagem , Acetato de Glatiramer/efeitos adversos , Humanos , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Rituximab/administração & dosagem , Rituximab/efeitos adversosRESUMO
The disease 2019 (COVID-19) made a public health emergency in early 2020. Despite attempts for the development of therapeutic modalities, there is no effective treatment yet. Therefore, preventive measures in various settings could help reduce the burden of disease. In this chapter, the transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causing COVID-19, non-pharmaceutical approaches at individual and population level, chemoprevention, immunoprevention, preventive measures in different healthcare settings and other professions, special considerations in high-risk groups, and the role of organizations to hamper the psychosocial effects will be discussed.
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COVID-19 , Vacinas Anticâncer , Atenção à Saúde , Humanos , Imunoterapia , SARS-CoV-2RESUMO
INTRODUCTION: Pharmacological interventions have not been successful in the treatment of childhood functional abdominal pain (FAP) hitherto. Buspirone is suggested to be efficacious in some of the abdominal pain-related functional gastrointestinal disorders based on evidences from the studies on adults. We aim to investigate the efficacy of buspirone on childhood FAP. METHODS: This randomized clinical trial was conducted on 117 patients with childhood FAP aged 6-18 years. We randomly assigned patients to receive buspirone or placebo for 4 weeks, with the adjusted dosage for age. Participants completed the questionnaires assessing pain, depression, anxiety, somatization, and sleep disturbances at baseline, at the end of the 4-week therapy (first follow-up), and at 8 weeks after medication discontinuation (second follow-up). The primary outcome was treatment response rate, defined as reduced pain score of ≥2 or reporting no pain at the follow-up assessments. RESULTS: Ninety-five patients completed the 4-week therapy (48 and 47 in buspirone and placebo groups, respectively). Both buspirone and placebo reduced pain after 4 weeks of treatment, and these effects were persistent 8 weeks after medication discontinuation (P < 0.001 for both groups at weeks 4 and 12). Treatment response rates for buspirone and placebo were 58.3% and 59.6% at week 4 (P = 0.902) and 68.1% and 71.1% at week 12 (P = 0.753), respectively. DISCUSSION: Buspirone effectively improves pain and associated psychological symptoms including depressive symptoms, anxiety, somatization, and sleep disturbances in childhood FAP but has no superiority over placebo. Further studies, with the higher doses of buspirone and longer follow-ups are recommended.
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Dor Abdominal/tratamento farmacológico , Buspirona/uso terapêutico , Agonistas do Receptor de Serotonina/uso terapêutico , Dor Abdominal/psicologia , Adolescente , Ansiedade/psicologia , Criança , Depressão/psicologia , Feminino , Humanos , Masculino , Medição da Dor , Transtornos do Sono-Vigília/psicologia , Transtornos Somatoformes/psicologia , Resultado do TratamentoRESUMO
Various genetic and epigenetic mechanisms have been suggested to play roles as the underlying pathophysiology of Multiple Sclerosis (MS). Changes in different parts of the mTOR signaling pathway are among the potential suggested mechanisms based on the specific roles of this pathway in CNS. MTOR, RPS6KB1, and EIFEBP1 genes are among important genes in the mTOR pathway, responsible for the proper function of acting proteins in this signaling pathway. This study aimed to investigate the relative expression levels of these genes in the blood samples of relapsing-remitting MS (RRMS) patients compared to healthy controls. In this case-control study blood samples were collected from 30 newly diagnosed RRMS patients and 30 age and sex-matched healthy controls. mRNA level of MTOR, RPS6KB1, and EIFEBP1 genes were assessed using Real-Time PCR. The expression of MTOR, RPS6KB1, and EIF4EBP1 genes was up regulated in MS patients compared to healthy controls (p < 0.001 for all mentioned genes). Considering gender differences, expression of the mentioned genes was increased among female patients (all P < 0.001). However, no statistically significant changes were observed among male patients. Based on the receiver operating characteristic, MTOR gene had the highest diagnostic value followed by EIF4EBP1 and RPS6KB1 genes in differentiating RRMS patients from controls. In conclusion, we found the simultaneous upregulation of MTOR, RPS6KB1, and EIF4EBP1 genes among RRMS patients. MTOR showed to have the highest diagnostic value compared to other 2 genes in differentiating RRMS patients. Further studies evaluating the importance of these findings from pharmacological and prognostic perspectives are necessary.
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Proteínas Adaptadoras de Transdução de Sinal/biossíntese , Proteínas de Ciclo Celular/biossíntese , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Esclerose Múltipla Recidivante-Remitente/metabolismo , Proteínas Quinases S6 Ribossômicas 70-kDa/biossíntese , Serina-Treonina Quinases TOR/biossíntese , Regulação para Cima/fisiologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Estudos de Casos e Controles , Proteínas de Ciclo Celular/genética , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Esclerose Múltipla Recidivante-Remitente/genética , Proteínas Quinases S6 Ribossômicas 70-kDa/genética , Serina-Treonina Quinases TOR/genética , Adulto JovemRESUMO
OBJECTIVES: Cyclic vomiting syndrome (CVS) is a common functional gastrointestinal disorder characterized by recurrent episodes of nausea and vomiting. There is no definite treatment for the condition, although some medications are recommended. We aimed to compare the efficacy of amitriptyline and cyproheptadine in prophylactic therapy of CVS. METHODS: This is a single-blinded randomized clinical trial conducted during 2015-2016 in Isfahan, Iran. Sixty-four children who were 3-15 years old, with a diagnosis of CVS (based on Rome III criteria), were included in the study and were randomly divided into two groups of amitriptyline and cyproheptadine. They were followed for 6 months, looking for frequency and duration of attacks as the primary outcome. RESULTS: The mean monthly frequency of attacks in the last 2 months of the study in the amitriptyline and cyproheptadine group were 0.38±0.55 and 0.59±0.71, respectively (P-value=0.197), after intervention. The mean duration of attacks between amitriptyline and cyproheptadine group were 1.41±2.86 and 1.81±2.22 h, respectively (P-value=0.212). In the amitriptyline group 65.6% of patients reported 100% remission, whereas in the cyproheptadine group 50% reported full remission (P-value=0.206). CONCLUSIONS: There was no superiority of one of the medications over the other. We did not find any age-related effect on the efficacy of these medications as well.
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Inibidores da Captação Adrenérgica/uso terapêutico , Amitriptilina/uso terapêutico , Ciproeptadina/uso terapêutico , Antagonistas da Serotonina/uso terapêutico , Vômito/prevenção & controle , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Método Simples-Cego , Resultado do TratamentoRESUMO
BACKGROUND: Because of the significant incidence and mortality of cancer in Iran, a Comprehensive National Cancer Control Program for the prevention and early detection of cancer was launched in 2007. However, cancer awareness and screening rates in Iran did not improve. This study aimed to evaluate public attitudes toward cancer and cancer patients in Iran. MATERIALS AND METHODS: We conducted a cross-sectional survey among 953 non-institutionalized individuals in Isfahan, Iran, from November 2014 to February 2015. We collected data on attitudes toward cancer in three domains (impossibility of recovery, cancer stereotypes, and discrimination), as well as questions on willingness to disclose a cancer diagnosis. RESULTS: Among all participants, 33.9% agreed that it is very difficult to regain one's health after a cancer diagnosis, 17.4% felt uncomfortable with a cancer patient, and 26.9% said that they would avoid marrying people whose family members had cancer. While 88.9% of study participants said that cancer patients deserve to be protected in society, 53.3% and 48.4% of participants agreed that they would not disclose a cancer diagnosis to neighbors and coworkers, respectively. CONCLUSION: Negative attitudes with respect to impossibility of recovery and discrimination toward cancer and cancer patients were common among urban Iranians. Most people would not disclose a cancer diagnosis to others in spite of advancements in cancer diagnosis and treatment, reflecting unfavorable attitudes toward cancer and cancer patients in society. Successful implementation of cancer awareness and prevention programs in Iran may require social changes based on adequate information on cancer and cancer patients. IMPLICATIONS FOR PRACTICE: Public attitudes toward cancer and cancer patients are an important factor affecting cancer control programs as well as quality of life and recovery of cancer patients. The issue has not been studied in Iran and the surrounding countries in the Middle East. This is the first report presented on the subject. These findings can be used by health policy makers, health managers, and clinicians for better practice.
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Conhecimentos, Atitudes e Prática em Saúde , Neoplasias/epidemiologia , Adulto , Atenção à Saúde , Detecção Precoce de Câncer , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Neoplasias/patologia , Neoplasias/psicologia , Pacientes/psicologia , Qualidade de Vida , Inquéritos e Questionários , População Urbana/tendênciasRESUMO
The American Academy of Neurology (AAN) was founded in 1948, and the Women's Auxiliary to the AAN was founded shortly thereafter. We reviewed historical archives of the AAN and Women's Auxiliary and interviewed past Auxiliary leaders to understand the perception and roles of neurologists' spouses. The Women's Auxiliary to the AAN was originally formed for the wives of neurologist Academy members with the intention of facilitating social and intragroup relationships. The first leaders and members of the organization included some of the spouses of the original Academy founders. With the original scope to provide socialization while the men were at meetings, the male neurologists initially planned much of the Auxiliary's activities. Over time, the Auxiliary's activities shifted and became women-led; engagement in community outreach grew, subcommittees expanded, and the group engaged in supporting the AAN in achieving its goals of improving neurology education and research. The change paralleled the women's movement with educational topics during the Auxiliary's meetings evolving from topics on homemaking to business and understanding neurologic diseases. The Auxiliary was intertwined with the Academy and initiated the S. Weir Mitchell Award and the Founders Award of the AAN in 1955 and 1994 to encourage basic and clinical research in neurology, respectively. In 1982, the Auxiliary requested increased involvement in the scientific programs at the annual meetings. Reflecting societal change, the name was changed to the "Auxiliary to the AAN" in the 1970s, and in the mid-1990s to the "Alliance to the AAN" to accommodate the increasing number of male partners of neurologists. Based on interviews, the Auxiliary provided engagement, empowerment, and connection between women. The Auxiliary's activities tapered in the late 1990s, in part due to changes in women's occupations, and to the rise of women's membership and leadership within the Academy.
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Doenças do Sistema Nervoso , Neurologia , Humanos , Masculino , Feminino , Estados Unidos , Sociedades Médicas , Neurologistas , Academias e InstitutosRESUMO
INTRODUCTION: Progressive supranuclear palsy (PSP) is an atypical parkinsonism caused by the intracerebral aggregation of the microtubule-associated protein tau (MAPT) which is encoded by MAPT gene. Although PSP is a sporadic disease, MAPT mutations have been reported in rare cases. METHODS: Among 190 patients with PSP who were recruited by the Neurodegenerative Research Group at Mayo Clinic during 2009-2023, we identified two patients who fulfilled diagnostic criteria for PSP-Richardson's syndrome (PSP-RS) and harbor novel MAPT mutations. To better investigate the potential effects of these mutations, we compared the clinical, and neuroimaging characteristics of these two patients to 20 randomly selected patients with PSP-RS without a MAPT mutation. RESULTS: MAPT c.1024G > A, p. Glu342Lys, and MAPT c.1217 G > A, p. Arg406Gln mutations were found in 2 men who developed PSP-RS with atypical features at the ages of 60 and 62 years, respectively. Glu342Lys mutation was associated with features resembling alpha-synucleinopathies (autonomic dysfunction, dream enactment behavior), while both mutations were associated with features suggestive of Alzheimer's disease with poorer performance on tests of episodic memory. Comparison of 18F-flortaucipir uptake between the two MAPT mutation cases with 20 patients without a mutation revealed increased signal on flortaucipir-PET in bilateral medial temporal lobe regions (amygdala, entorhinal cortices, hippocampus, parahippocampus) but not in PSP-related regions (globus pallidum, midbrain, superior frontal cortex and dentate nucleus of the cerebellum). CONCLUSION: Glu342Lys and Arg406Gln mutations appear to modify the PSP-RS phenotype by targeting the medial temporal lobe regions resulting in more memory loss and greater flortaucipir uptake.
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Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Masculino , Humanos , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Paralisia Supranuclear Progressiva/genética , Proteínas tau/genética , Proteínas tau/metabolismo , Mutação/genética , Neuroimagem , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/genética , FenótipoRESUMO
BACKGROUND: Young-onset multiple system atrophy (YOMSA) is defined as the onset of multiple system atrophy (MSA) before the age of 40 years old. YOMSA is rare and there is much uncertainty of the phenotype and natural history in patients with YOMSA. OBJECTIVE: The objective is to evaluate the characteristics and disease course of patients with YOMSA. METHODS: We retrospectively reviewed medical records of patients with MSA who were evaluated at all Mayo Clinic sites from 1998 to 2021. We identified patients with YOMSA and evaluated clinical characteristics, autonomic function testing results, and disease course. RESULTS: Of 1496 patients with a diagnosis of clinically probable or clinically established MSA, 20 patients had YOMSA. The median age of onset was 39.1 (interquartile range [IQR] = 37.1, 40.1) years; 13 patients (65%) were male. MSA-parkinsonism was the most common subtype (65%). The median duration of symptom onset to YOMSA diagnosis was 4.9 (IQR = 3.7, 9) years. At the time of medical record review, 17 patients were deceased with a median survival of 8.3 (IQR = 7, 10.9) years. Univariate analysis showed that initial onset of autonomic failure predicted unfavorable survival (hazard ratio = 2.89, P = 0.04) compared to those who presented with motor impairment only at onset. At the time of YOMSA diagnosis, composite autonomic severity score was available in 19 patients with a median of 5 (IQR = 4, 6.5). CONCLUSIONS: YOMSA resembles MSA in most aspects including phenotype and prognosis, although the diagnosis is usually delayed. The presence of autonomic failure at symptom onset may be a poor predictor for survival.
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Atrofia de Múltiplos Sistemas , Insuficiência Autonômica Pura , Humanos , Masculino , Adulto , Feminino , Atrofia de Múltiplos Sistemas/diagnóstico , Estudos Retrospectivos , Sistema Nervoso Autônomo , Prognóstico , Progressão da DoençaRESUMO
Background: Movement disorders, including chorea, have been cited as a side effect of lamotrigine use. However, the association is controversial and clinical characteristics in such cases are unclear. We sought to explore whether chorea may be associated with lamotrigine use. Methods: We performed a retrospective chart review of all patients diagnosed with chorea who had concurrent use of lamotrigine between 2000-2022. Demographic information and clinical characteristics were analyzed, including medical comorbidities and concurrent medication use. A literature search and review were conducted, with additional cases of lamotrigine-associated chorea analyzed. Results: Eight patients met the inclusion criteria for the retrospective review. In 7 patients, other causes of chorea were considered more likely. However, a 58-year-old woman with bipolar disorder on lamotrigine for mood stabilization had a clear association of chorea induced by lamotrigine. The patient was on multiple centrally active medications. Three additional cases of lamotrigine-associated chorea were identified through a literature review. In 2 of these cases, other centrally acting agents were used, and chorea was resolved with weaning lamotrigine. Discussion: Chorea is infrequently seen in the setting of lamotrigine use. In these rare cases, the presence of other centrally acting medications with lamotrigine may contribute to chorea. Highlights: Lamotrigine use is associated with movement disorders, including chorea, but the characteristics are not clearly defined. From our retrospective review, one adult had clear temporal and dose-related association between chorea and lamotrigine. We analyzed this case in conjunction with a literature review of cases of chorea associated with lamotrigine.
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Coreia , Transtornos dos Movimentos , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Lamotrigina , Estudos RetrospectivosRESUMO
OBJECTIVE: Multiple system atrophy (MSA) is characterized by urinary dysfunction, yet the influence of sex and gender on urinary symptoms and treatment is unclear. We sought to characterize sex and gender differences in the symptomatology, evaluation, and management of urinary dysfunction in patients with MSA. METHODS: Patients with MSA evaluated at our institution were reviewed and stratified by sex. RESULTS: While the prevalence of urinary symptoms was similar in male and female patients, incontinence was more common in females. Despite this, males and females underwent postvoid residual (PVR) measurement at similar rates. While catheterization rates were similar when PVR was measured, males were more than twice as likely to be catheterized than females in the absence of PVR measurement. CONCLUSION: Urinary symptoms are common in MSA, but their presentation differs between males and females. The difference in catheterization rates may be driven by a gender disparity in referrals for PVR, which can guide treatment.
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The course of patients with multiple system atrophy (MSA) who undergo deep brain stimulation (DBS) is unclear. In a retrospective review of 1,496 patients with MSA evaluated at our institutions from 1998-2021, 12 patients underwent DBS; 9 had a diagnosis of Parkinson's disease at the time of surgery. Nine patients reported initial improvement in at least one symptom and 7 experienced overall worsening following DBS. All patients had at least one red flag sign or symptom suggesting atypical parkinsonism prior to surgery. Considering overall poor outcomes of DBS in MSA, we recommend careful consideration of red flags in patient selection.
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Estimulação Encefálica Profunda , Atrofia de Múltiplos Sistemas , Doença de Parkinson , Transtornos Parkinsonianos , Humanos , Atrofia de Múltiplos Sistemas/terapia , Atrofia de Múltiplos Sistemas/diagnóstico , Doença de Parkinson/diagnóstico , Estimulação Encefálica Profunda/efeitos adversos , Transtornos Parkinsonianos/diagnóstico , Estudos RetrospectivosRESUMO
Depression is the second leading cause of disability in the world. Despite developing some efficacious treatments, many patients do not respond to the treatment well due to the complexity of depression and unknown mechanisms involved in its pathogenesis. It has been reported that patients with major depressive disorder (MDD) experience autonomic dysfunctions in different aspects. Evidence suggests that modulation of the autonomic nervous system may improve depression. Von Economo neurons (VENs) are shown to be involved in the pathophysiology of some of the neurological and psychological diseases. VENs are also important for the "ego" formation, sense of empathy, intuition, and cognition. These neurons express a high level of adrenoreceptor alpha 1a, which confirms their role in the autonomic function. Here, based on some evidence, I propose the hypothesis that these neurons may play a role in depression, possibly through being involved in the autonomic function. More focused studies on VENs and their possible role in depression is suggested in future. This pathway may open a new window in the treatment of depression.
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Transtorno Depressivo Maior , Sistema Nervoso Autônomo , Depressão , Humanos , Vias Neurais , NeurôniosRESUMO
OBJECTIVE: Both genetic and environmental factors play roles in Multiple Sclerosis (MS) etiopathogenesis. The relationship between prenatal/perinatal factors/exposures and future MS occurrence in the offspring remains controversial. Here, we aimed to review the available evidence on prenatal/perinatal factors associated with later MS occurrence. METHOD: We performed systematic search of PubMed, Web of Science, and Scopus from inception to October 2020. We included original observational studies conducted on human participants addressing the association between prenatal/perinatal factors and MS occurrence. Data were extracted according to the PRISMA guideline. The adjusted odds ratio (OR) with 95% confidence interval (CI) was considered as the desired effect size. The heterogeneity was evaluated by Cochran's Q and I2 and the publication bias was assessed. We excluded gestational/neonatal vitamin D level, season of birth, and latitude because of recently published systematic reviews/meta-analyses on these subjects. RESULTS: Overall, 2306 records were identified in the primary search. After excluding irrelevant studies, we evaluated 34 studies with contributing data on 100 prenatal/perinatal factors associated with an increased or decreased risk of MS occurrence. In the meta-analyses, we found no statistically significant associations between later MS occurrence in offspring and prenatal smoking exposure (OR = 1.01, 95% CI = 0.77-1.34), mode of delivery (OR = 0.90, 95% CI = 0.52-1.56), birth order (OR = 0.85, 95% CI = 0.72-1.00), and maternal age (OR = 1.34, 95% CI = 0.88-2.04). Paternal age and parents' marital status at the time of childbirth, maternal preeclampsia/ toxemia, forceps use, birth weight, plurality, and preterm birth were the other most studied factors, and none reported to affect MS risk. CONCLUSION: We found that prenatal smoking exposure, mode of delivery, birth order, and maternal age do not affect risk of future MS development. Moreover, most of the other investigated factors were reported not to affect MS risk in the offspring.
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Esclerose Múltipla , Nascimento Prematuro , Feminino , Humanos , Recém-Nascido , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/etiologia , Gravidez , VitaminasRESUMO
BACKGROUND: Postpartum depression (PPD) is one of the most important mental disorders in recent years. However, the effects of prenatal sleep disorders on the development of PPD among pregnant women have not been elucidated. This review aims to provide a summary of the literature evaluating the relation between sleep disorders during pregnancy and PPD. METHOD: A systematic literature search was conducted in PubMed, Web of Science, Scopus, Google Scholar, and Embase up to September 2020. All observational studies (cross-sectional, case-control, and cohort) and studies that assessed the association between sleep disorders during pregnancy and PPD were included. Total sample of 36,873 women from 13 studies was entered to meta-analysis. An aggregate effect size estimate (odds ratio) was generated using the comprehensive meta-analysis software. A random effects model was set a priori. Heterogeneity and publication bias were examined using the standard meta-analytic approaches. RESULT: We found maternal sleep disorder increased odds of PPD (point estimate, 3.300; 95% confidence interval [CI], 2.136-5.098; p < .001; n = 13). However, there was significant heterogeneity (Q, 131.250; df, 12; p < .001; I2 , 90.857%). The estimated effect size was significant for all categorical studies. According to meta-regression, no moderating factor (age and publication year) significantly mediated the estimated effect size. CONCLUSION: We found a significant relationship between sleep disturbances during pregnancy and PPD. Women with sleep disorders are at an increased risk of developing PPD, which warrants screening pregnant mothers for sleep disturbances. Also, we found that the increasing age in pregnancy was associated with increased risk of PPD.