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1.
J Neurol Sci ; 463: 123121, 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38968665

RESUMEN

BACKGROUND: Restless Legs Syndrome (RLS), impacting 5-13% of the population, poses challenges in long-term management. A knowledge gap exists in predicting resistance to first-line therapies. OBJECTIVE: To identify demographic and clinical factors predictive of refractory cases. METHODS: This retrospective study, conducted at the Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas (January 2018 to September 2023) identified all patients with RLS evaluated during the pre-specified period and compared clinical and demographic data between medication-refractory ("malignant") group and "benign" cohort. RESULTS: Among 132 patients with RLS, 23 (17.4%) were categorized as medication-refractory. This cohort was characterized by a significantly lower mean age at onset (39.3 vs. 53.5 years, p = 0.0005), longer disease duration (26.7 vs. 14.0 years), and a higher prevalence of a positive family history of RLS among first-degree relatives compared to the "benign" group (56.5% vs. 15.5%, p = 0.003). Furthermore, compared to the "benign" group, in the refractory group dopamine agonists were initiated as the primary medication at a significantly higher rate (p = 0.006). CONCLUSION: Our study found that a younger age at disease onset, prolonged disease duration, initial use of dopamine agonists, and a positive family history increased the likelihood of refractory RLS. We caution against the use of dopamine agonists, especially in young patients with RLS. Additionally, botulinum toxin might be considered a viable second-line treatment, especially for patients with otherwise medically-refractory RLS.

2.
Indian J Pharmacol ; 55(5): 332-334, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37929412

RESUMEN

Unfractionated heparin (UH), a commonly used anticoagulant, can rarely cause skin necrosis following heparin-induced thrombocytopenia (HIT). A 38-year-old female, a case of chronic inflammatory demyelinating polyneuropathy (CIDP) admitted to the neurology ward, developed extensive skin necrosis following a change in UH dose at the exact site of UH injection. A sudden fall in the platelet count was observed within 48 h of increasing the UH dose. Necrosis of the outer layer of the skin along with clot formation and inflammation in the inner layers was detected after histopathological evaluation. UH was discontinued, and rivaroxaban was started for the patient as soon as the complication was detected. The patient was discharged in good condition after completing treatment for CIDP without any need for surgical removal of the necrotic tissue. Extensive skin necrosis, as a result of HIT, requires immediate discontinuation of UH and substitution of a nonheparin-based anticoagulation treatment.


Asunto(s)
Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante , Trombocitopenia , Adulto , Femenino , Humanos , Anticoagulantes/efectos adversos , Brazo , Heparina/efectos adversos , Necrosis/inducido químicamente , Necrosis/tratamiento farmacológico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/tratamiento farmacológico , Trombocitopenia/inducido químicamente , Trombocitopenia/tratamiento farmacológico
3.
J Infect Dev Ctries ; 17(6): 791-799, 2023 06 30.
Artículo en Inglés | MEDLINE | ID: mdl-37406065

RESUMEN

INTRODUCTION: There have been some reports of the association between SARS-CoV-2 infection and mucormycosis. This study aims to compare the hospitalization rates and clinical characteristics of mucormycosis before and during the COVID-19 pandemic. METHODOLOGY: In this retrospective study, we compared the hospitalization rate of mucormycosis patients in Namazi hospital in Southern Iran for two periods of 40 months. We defined July 1st, 2018 to February 17th, 2020, as the pre-COVID-19 period and February 18th, 2020, to September 30th, 2021, as the COVID-19 period. In addition, a quadrupled group of hospitalized patients with age and sex-matched SARS-COV-2 infection without any sign of mucormycosis was selected as the control group for COVID-associated mucormycosis. RESULT: In the total of 72 mucormycosis patients in the COVID period, 54 patients had a clinical history and a positive RT-PCR, which confirms the diagnosis of SARS-COV2 infection. The hospitalization rate of mucormycosis showed an increase of + 306% (95% CI: + 259%, + 353%) from a monthly average value of 0.26 (95% confidence interval (CI): 0.14, 0.38) in the pre-COVID period to 1.06 in the COVID period. The use of corticosteroids prior to the initiation of hospitalization (p ≤ 0.01), diabetes (DM) (p = 0.04), brain involvement (p = 0.03), orbit involvement (p = 0.04), and sphenoid sinus invasion (p ≤ 0.01) were more common in patients with mucormycosis during the COVID period. CONCLUSIONS: In high-risk patients, especially diabetics, special care to avoid the development of mucormycosis must be taken into account in patients with SARS-COV-2 infection considered for treatment with corticosteroids.


Asunto(s)
COVID-19 , Mucormicosis , Humanos , COVID-19/epidemiología , Hospitalización , Mucormicosis/tratamiento farmacológico , Mucormicosis/epidemiología , Pandemias , Estudios Retrospectivos , ARN Viral , SARS-CoV-2 , Masculino , Femenino
4.
Clin Neurol Neurosurg ; 232: 107866, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37413872

RESUMEN

BACKGROUND: Non-motor symptoms (NMS) such as cognitive impairment are among common presentations in patients with Parkinson's disease (PD). In parallel with motor symptoms, these impediments can affect PD patients' quality of life. However, cognitive impairment has received less attention in early PD. On the other hand, the relationship between olfactory symptoms and cognitive impairment is unclear in early PD. Considering the importance of accurate and timely assessment of cognitive function in PD patients using readily available/validated tests, this study has employed the Cambridge Brain Sciences-Cognitive Platform (CBS-CP) as a computer-based tool to assess cognitive presentations in early PD patients. METHODS: Thirty-four eligible males and females were assigned to PD and healthy controls (HCs). The cognitive performance was assessed using CBS-CP and Mini-Mental State Examination (MMSE), and olfactory function was measured through the standardized olfactory Quick Smell test (QST). RESULTS: PD patients had poorer performance in all CBS-CP tasks, including short-term memory, attention, and reasoning domains than HCs. Meanwhile, the verbal domain task scores showed no significant difference between groups. PD MMSE results were in the normal range (mean=26.96), although there was a significant difference between the PD and HCs groups (P = 0.000). Our results revealed no correlation between cognitive impairment and olfactory function in PD patients. CONCLUSION: Given the widely studied features of CBS-CP and its reliability across published evidence, CBS-CP appears to be a suitable measurement to evaluate cognitive impairment in early PD with normal MMSE scores. It seems cognitive and olfactory impairments are independent in early PD. DATA AVAILABILITY STATEMENT: The datasets generated during the current study are available from the corresponding author upon reasonable request.


Asunto(s)
Trastornos del Conocimiento , Disfunción Cognitiva , Enfermedad de Parkinson , Masculino , Femenino , Humanos , Trastornos del Conocimiento/diagnóstico , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/psicología , Calidad de Vida , Reproducibilidad de los Resultados , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Cognición , Encéfalo , Pruebas Neuropsicológicas
5.
J Neuroimaging ; 32(6): 1161-1169, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35969379

RESUMEN

BACKGROUND AND PURPOSE: Carotid angioplasty and stenting (CAS) could be considered for preventing stroke in patients with carotid artery stenosis. This study aimed to determine the incidence and the risk factors of the early and mid-term complications associated with CAS. METHODS: This is a retrospective cohort study conducted at Shiraz University of Medical Sciences from March 2011 to March 2019. Patients at high risk and standard risk for carotid endarterectomy were included. The primary composite outcome was defined as stroke, myocardial infarction (MI), and death in the first 30 days after CAS. All-cause mortality, vascular mortality, and stroke were investigated during mid-term follow-up. RESULTS: A total of 579 patients (618 CAS) were recruited (mean age: 71.52 years). Overall, 394 (68.40%), 211 (36.63%), 179 (31.07%), and 96 (16.72%) patients had hypertension, dyslipidemia, diabetes mellitus, or were cigarette smokers, respectively. Primary composite outcomes were observed in 2.59% of patients (1.55% stroke, 0.69% MI, and 1.72% death). Atrial fibrillation was a predictor of primary composite outcome in multivariate logistic regression (p = .048). The presence of total occlusion in the contralateral carotid artery was significantly associated with the risk of stroke in univariate logistic regression (p = .041). The patients were followed for a period ranging from 1 to 83 months. The overall survival rate for all-cause mortality was 93.48% at 1 year, 77.24% at 5 years, and 52.92% at 8 years. All-cause mortality was significantly higher among patients with symptomatic carotid stenosis (p = .014). CONCLUSION: CAS provides acceptable short-term and mid-term outcomes in a unique population of high- and standard-surgical-risk, symptomatic and asymptomatic, octogenarian, and nonoctogenarian patients.


Asunto(s)
Estenosis Carotídea , Endarterectomía Carotidea , Infarto del Miocardio , Accidente Cerebrovascular , Anciano de 80 o más Años , Humanos , Anciano , Estudios Retrospectivos , Resultado del Tratamiento , Factores de Tiempo , Angioplastia/efectos adversos , Endarterectomía Carotidea/efectos adversos , Endarterectomía Carotidea/métodos , Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/cirugía , Stents/efectos adversos , Arterias Carótidas , Accidente Cerebrovascular/etiología , Factores de Riesgo , Infarto del Miocardio/cirugía , Infarto del Miocardio/complicaciones
6.
J Stroke Cerebrovasc Dis ; 31(7): 106468, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35523051

RESUMEN

OBJECTIVES: There are several reports of the association between SARS-CoV-2 infection (COVID-19) and cerebral venous sinus thrombosis (CVST). In this study, we aimed to compare the hospitalization rate of CVST before and during the COVID-19 pandemic (before vaccination program). MATERIALS AND METHODS: In this retrospective cohort study, the hospitalization rate of adult CVST patients in Namazi hospital, a tertiary referral center in the south of Iran, was compared in two periods of time. We defined March 2018 to March 2019 as the pre-COVID-19 period and March 2020 to March 2021 as the COVID-19 period. RESULTS: 50 and 77 adult CVST patients were hospitalized in the pre-COVID-19 and COVID-19 periods, respectively. The crude CVST hospitalization rate increased from 14.33 in the pre-COVID-19 period to 21.7 per million in the COVID-19 era (P = 0.021). However, after age and sex adjustment, the incremental trend in hospitalization rate was not significant (95% CrI: -2.2, 5.14). Patients > 50-year-old were more often hospitalized in the COVID-19 period (P = 0.042). SARS-CoV-2 PCR test was done in 49.3% out of all COVID-19 period patients, which were positive in 6.5%. Modified Rankin Scale (mRS) score ≥3 at three-month follow-up was associated with age (P = 0.015) and malignancy (P = 0.014) in pre-COVID period; and was associated with age (P = 0.025), altered mental status on admission time (P<0.001), malignancy (P = 0.041) and COVID-19 infection (P = 0.008) in COVID-19 period. CONCLUSION: Since there was a more dismal outcome in COVID-19 associated CVST, a high index of suspicion for CVST among COVID-19 positive is recommended.


Asunto(s)
COVID-19 , Trombosis de los Senos Intracraneales , Adulto , COVID-19/diagnóstico , COVID-19/epidemiología , Hospitalización , Humanos , Persona de Mediana Edad , Pandemias , Estudios Retrospectivos , SARS-CoV-2 , Trombosis de los Senos Intracraneales/diagnóstico , Trombosis de los Senos Intracraneales/epidemiología , Trombosis de los Senos Intracraneales/terapia
7.
Int J Occup Saf Ergon ; 28(3): 1683-1689, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33855938

RESUMEN

Objectives. The future workshop (FW), as a participatory ergonomics approach, is used to change the actual situation of a system into a preferable one. This study was conducted at a major hospital to identify ergonomic problems and provide appropriate solutions for improving working conditions using the FW technique. Methods. Twenty-five mid-level managers of the hospital participated in a 2-day FW. In the critique phase, the ergonomic problems were thoroughly discussed. After brainstorming followed by structuring and grouping of ideas, 75 ergonomic problems were identified and classified into four groups. Solutions and action plans were proposed to improve working conditions. Results. There were nine problems in the personnel-managerial group. Eighteen action plans were proposed to fix them. Stressful occupational factors were the worst problem in this group. Five problems were characterized in the physical space group and 10 action plans were presented. Seven problems were detected in the equipment group, for which 13 action plans were presented. In the welfare group, six problems and 12 action plans were presented. Conclusion. The results revealed that the FW was an appropriate method to find ergonomic bottlenecks in the hospital and a good basis for devising ergonomic interventions.


Asunto(s)
Enfermedades Musculoesqueléticas , Enfermedades Profesionales , Ergonomía/métodos , Hospitales , Humanos , Irán
8.
Neurophysiol Clin ; 51(6): 524-532, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34764016

RESUMEN

OBJECTIVES: Brainstem auditory evoked response (BAER) is a non-invasive modality that can be used to investigate brainstem neuronal function in movement disorders. The differentiation between drug-induced parkinsonism (DIP) and Parkinson's disease (PD) can be very challenging. Although PD and DIP to some extent display similar clinical symptoms, the underlying pathophysiologic mechanisms are entirely different. Given these differences in pathogenesis, and the diagnostic utility of BAER for detecting brainstem function, BAER may help to distinguish between PD and DIP. This study aimed to assess the accuracy and predictive values of BAER parameters in differentiating DIP from PD. METHODS: We prospectively studied143 participants classified within three groups, including 50 controls, 57 PD, and 36 DIP. BAER was performed on all patients in the study. Patients in the DIP group were followed up for at least one year after discontinuation of the causative drug and examined for final diagnosis. We compared BAER latencies of the three groups and measured sensitivity, specificity, predictive values, likelihood ratios, and accuracy of BAER in diagnosing DIP. RESULT: Waves V, I-V, and III-V latencies were significantly prolonged among the PD patients compared to the DIP and the control group; however, there were no significant differences in BAER latencies between the DIP and the control group. Waves V and I-V latencies revealed the highest accuracy (86% and 79%, respectively) in distinguishing DIP from PD with high negative predictive value(89% and 83%, respectively) as well as a high negative likelihood ratio (0.2and 0.3, respectively). CONCLUSION: This study showed that waves V and I-V latencies are significantly prolonged in PD patients compared to those with DIP, consistent with the proposed mechanisms of neurodegeneration in PD, particularly in the midbrain and pons. Consequently, BAER could be used as a useful diagnostic tool for differentiating DIP from PD.


Asunto(s)
Enfermedad de Parkinson , Preparaciones Farmacéuticas , Tronco Encefálico , Potenciales Evocados Auditivos , Potenciales Evocados Auditivos del Tronco Encefálico , Humanos , Enfermedad de Parkinson/diagnóstico
9.
J Alzheimers Dis ; 78(1): 169-183, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32955463

RESUMEN

BACKGROUND: A proper explanation for perceptual symptoms in neurodegenerative disorders including Alzheimer's disease and Parkinson's disease (PD) is still lacking. OBJECTIVE: This study aimed at investigating the imbalance between 'bottom-up' and 'top-down' information flow (IF) and processing in PD in relation with visual hallucination symptoms. METHODS: Here, we looked at bottom-up and top-down IF markers using resting state electroencephalographic (EEG) data from PD patients analyzed through three different IF measures (direct Directed Transfer Function (dDTF), full frequency Directed Transfer Function (ff-DTF), and renormalized Partial Directed Coherence (rPDC). RESULTS: We observed an increased gamma band IF and a reduced beta band IF in PD patients compared to healthy controls. Additionally, we noticed a reduced theta band IF in PD patients using dDTF as a measure of IF. By source localizing the EEG activity of the PD patients and healthy controls, we looked at the alterations of IF in the prefrontal cortex of PD patients as well. CONCLUSION: In line with previous studies, our results suggest that the delicate balance between bottom-up and top-down IF is disrupted in Parkinson's disease potentially contributing to the cognitive symptoms of PD patients.


Asunto(s)
Alucinaciones/fisiopatología , Enfermedad de Parkinson/psicología , Percepción Visual/fisiología , Anciano , Anciano de 80 o más Años , Atención , Estudios de Casos y Controles , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad
10.
Cell Mol Neurobiol ; 40(4): 477-493, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31773362

RESUMEN

In recent years, the innovation of gene-editing tools such as the CRISPR/Cas9 system improves the translational gap of treatments mediated by gene therapy. The privileges of CRISPR/Cas9 such as working in living cells and organs candidate this technology for using in research and treatment of the central nervous system (CNS) disorders. Parkinson's disease (PD) is a common, debilitating, neurodegenerative disorder which occurs due to loss of dopaminergic neurons and is associated with progressive motor dysfunction. Knowledge about the pathophysiological basis of PD has altered the classification system of PD, which manifests in familial and sporadic forms. The first genetic linkage studies in PD demonstrated the involvement of Synuclein alpha (SNCA) mutations and SNCA genomic duplications in the pathogenesis of PD familial forms. Subsequent studies have also insinuated mutations in leucine repeat kinase-2 (LRRK2), Parkin, PTEN-induced putative kinase 1 (PINK1), as well as DJ-1 causing familial forms of PD. This review will attempt to discuss the structure, function, and development in genome editing mediated by CRISP/Cas9 system. Further, it describes the genes involved in the pathogenesis of PD and the pertinent alterations to them. We will pursue this line by delineating the PD linkage studies in which CRISPR system was employed. Finally, we will discuss the pros and cons of CRISPR employment vis-à-vis the process of genome editing in PD patients' iPSCs.


Asunto(s)
Repeticiones Palindrómicas Cortas Agrupadas y Regularmente Espaciadas/genética , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/terapia , Edición Génica , Predisposición Genética a la Enfermedad , Humanos , Fenotipo , Ubiquitina-Proteína Ligasas/genética
11.
J Ethnopharmacol ; 247: 112226, 2020 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-31574343

RESUMEN

ETHNOPHARMACOLOGICAL RELEVANCE: Licorice preparations are used as neuroprotective remedies in Persian ethnomedicine, in order to prevent from disabilities in neurodegenerative conditions like Parkinson's disease (PD). AIM OF THE STUDY: This study was designed to determine the licorice (root of Glycyrrhiza glabra L.) effectiveness as an adjunct treatment in the PD management. MATERIAL AND METHODS: In this double-blinded trial, 128 patients were assessed for eligibility criteria. Seventy-eight patients were ineligible and 11 of them refused from participating. Thirty-nine PD patients (YAHR staging ≤ 3) were divided into two groups by random. The patients received oral licorice or placebo syrups with a dose of 5 cc, twice a day for 6 months. High-performance liquid chromatography and spectrophotometric instruments determined licorice syrup constituents. The patients' situation for Unified Parkinson's rating scale (UPDRS) was assessed every 6 weeks for the duration of six months. In addition, patients' blood pressure, blood glucose, sodium and potassium levels, quality of life and dizziness were determined. RESULTS: Six weeks after intervention, total UPDRS, daily activities and tremor were significantly improved with a considerable effect size. A significant better motor test and rigidity scores were observed 4 months after licorice intake (p > 0.05). No electrolyte abnormality, significant changes in blood pressure or blood glucose levels were observed during the study. Each 5cc of syrup contained 136 mg of licorice extract with 12.14 mg glycyrrhizic acid, and also 136 µg of polyphenols. CONCLUSION: The licorice intake could improve the symptoms in PD patients without serious adverse events.


Asunto(s)
Antiparkinsonianos/administración & dosificación , Glycyrrhiza/química , Enfermedad de Parkinson/tratamiento farmacológico , Extractos Vegetales/administración & dosificación , Administración Oral , Adulto , Anciano , Anciano de 80 o más Años , Antiparkinsonianos/efectos adversos , Glucemia/análisis , Glucemia/efectos de los fármacos , Presión Sanguínea/efectos de los fármacos , Método Doble Ciego , Quimioterapia Combinada/métodos , Etnofarmacología , Femenino , Humanos , Irán , Masculino , Medicina Arábiga/métodos , Persona de Mediana Edad , Destreza Motora/efectos de los fármacos , Rigidez Muscular/sangre , Rigidez Muscular/tratamiento farmacológico , Rigidez Muscular/etiología , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/complicaciones , Placebos , Extractos Vegetales/efectos adversos , Raíces de Plantas/química , Calidad de Vida , Resultado del Tratamiento
12.
World Neurosurg ; 121: e129-e135, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30236810

RESUMEN

OBJECTIVE: To report the establishment of a new center for deep brain stimulation (DBS) as a surgical treatment for Parkinson disease and the surgical outcomes, from 2014 to 2017 in Shiraz, Southern Iran. METHODS: A new treatment program was established in Shiraz through a multidisciplinary team in 2014. Thirty-four patients underwent implantation of subthalamic nucleus (STN) electrodes during the last 3 years. Twenty-five patients fulfilled the minimum 6-month follow-up criteria. The baseline Unified Parkinson Disease Rating Scale (UPDRS) was assessed 1 month before surgery in both off-medication and on-medication states by a movement disorder neurologist. To evaluate the outcomes, subscores of the UPDRS were assessed in all patients before surgery and at least 6 months after the operation. RESULTS: All 25 patients had advanced Parkinson disease categorized as stage 3 or 4 using the Hoehn and Yahr scale. STN DBS resulted in a dramatic improvement in motor function of most patients. A reduction in dopaminergic medication dosage (average 60% reduction) was observed. The mean improvement was 40% in UPDRS II and 67% in UPDRS III. No surgical or hardware complications were observed. Stimulation-related adverse effects, including increased falling and worsening of speech, occurred in a few patients after surgery. Most of the patients experienced weight gain after surgery. CONCLUSIONS: Bilateral STN DBS is a satisfactory and safe treatment for carefully selected patients with advanced Parkinson disease. According to the results, the procedure can be performed safely and with comparable results in developing countries around the world.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Enfermedad de Parkinson/terapia , Núcleo Subtalámico , Adolescente , Adulto , Anciano , Sedación Consciente/métodos , Estimulación Encefálica Profunda/instrumentación , Países en Desarrollo , Femenino , Humanos , Neuroestimuladores Implantables , Irán , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Imagen Multimodal , Selección de Paciente , Cuidados Posoperatorios , Cuidados Preoperatorios , Estudios Retrospectivos , Técnicas Estereotáxicas , Centros Quirúrgicos/organización & administración , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
13.
Neuropsychiatr Dis Treat ; 14: 2323-2328, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30254443

RESUMEN

PURPOSE: Variations of cerebral blood flow in response to hypoxia and hyperoxia in different disease conditions can provide new insights into disease etiopathogenesis. This study aimed to determine the characteristics of cerebral vasoreactivity for ischemia and demyelination. MATERIALS AND METHODS: This case-control study included: 28 patients with lacunar infarctions verified by history, physical examination, and MRI; 28 age- and sex-matched healthy controls; 28 patients with relapsing-remitting multiple sclerosis (MS), based on McDonald criteria; and 28 age- and sex-matched healthy controls for the MS group. Transcranial Doppler sonography was undertaken in all subjects to calculate the mean flow velocity (MFV) of the right middle cerebral artery (MCA) and, after a breath-holding (BH) maneuver, the breath-holding index (BHI) was determined. RESULTS: There was no significant difference of BHI and changes of MFV of the MCA in MS patients compared to controls (1.02 ± 0.4 vs 1.02 ± 0.3, p = 0.993; and 16.8 ± 8.1 vs 11.3 ± 10.8, p = 0.057). BHI in patients with lacunar infarctions was significantly lower (0.8 ± 0.4 vs 1.2 ± 0.3, p < 0.001) compared to controls. The BHI (p = 0.040) and variations of MFV of MCA (p = 0.007) in MS patients were significantly higher than in patients with lacunar infarctions. The vasoreactivity of demyelinating lesions was higher than that of ischemic ones. CONCLUSION: Therefore, cerebral vasoreactivity determined by transcranial Doppler could be utilized for differentiating demyelinating from ischemic lesions.

14.
Mol Neurobiol ; 55(4): 3477-3489, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28502045

RESUMEN

In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.


Asunto(s)
Familia , Mutación/genética , Trastornos Parkinsonianos/genética , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Exones/genética , Femenino , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Monoéster Fosfórico Hidrolasas/genética , Proteínas Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , Adulto Joven
15.
Reumatologia ; 55(3): 145-150, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28769139

RESUMEN

Granulomatosis with polyangiitis (GPA, formerly Wegener granulomatosis) is a vasculitis with various organ involvement. There have been a few cases of CNS stroke and rare cases of lateral medullary infarction (LMI) as a manifestation of GPA. Also there have been reports of sinuses, nose and laryngeal masses mistakenly referred as carcinomas and subsequently GPA was diagnosed in their pathological reports. Another severe fulminant manifestation can be necrotizing scleritis leading to perforation of sclera. Therefore, here we present some rare and fulminant manifestations of GPA in 3 separate cases for further emphasis of the unusual manifestations of GPA that should always be kept in mind.

16.
Mol Neurobiol ; 54(3): 2234-2240, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-26941103

RESUMEN

Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.


Asunto(s)
Predisposición Genética a la Enfermedad , Proteínas de Unión al GTP Monoméricas/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Anciano , Pueblo Asiatico/genética , Trastorno Autístico/genética , Trastorno Bipolar/genética , Temblor Esencial/genética , Femenino , Estudio de Asociación del Genoma Completo/métodos , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/genética , Reacción en Cadena de la Polimerasa/métodos , Factores de Riesgo
17.
J Res Pharm Pract ; 5(4): 285-289, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27843966

RESUMEN

OBJECTIVE: Nowadays, the role of clinical pharmacists has become more prominent by more clinical pharmacists joining the health-care teams. This study was aimed to assess the role of a clinical pharmacist specialist in detecting and managing drug-related problems (DRPs) in the neurology ward of a tertiary care teaching hospital in Iran. METHODS: This is a prospective cross-sectional study conducted on 123 hospitalized patients admitted to the neurology ward of a teaching hospital. The clinical pharmacist visited the patients and filled out the designed pharmacotherapy sheet for each patient. Then, the general pharmacist checked the patients' files and pharmacotherapy sheets and categorized DRPs using modified method of "The Pharmaceutical Care Network Europe classification, Version 5.01." FINDINGS: A total of 168 errors were found and 346 interventions were done by the clinical pharmacist during the study period. The most common form of errors in our study was "drug choice problems" (57.76%). The acceptance rate of interventions was 41.91% among physicians. CONCLUSION: The large number of interventions reported in several studies, as well as this study, revealed that clinical pharmacy services could contribute to a rationalization of drug therapy and may eventually lead to more medication safety.

18.
Iran Red Crescent Med J ; 18(6): e24610, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27621919

RESUMEN

INTRODUCTION: Pseudo-Foster Kennedy syndrome is a triad consisting of ipsilateral optic atrophy, contralateral optic disc edema, and ipsilateral anosmia in the absence of an intracranial mass. Vitamin B12 plays an important role in DNA synthesis, and its deficiency causes peripheral neuropathy, myeloneuropathy, and, very rarely, optic neuropathy. CASE PRESENTATION: In this study, we describe a 34-year-old male who presented with progressive loss of visual acuity and field. Fundoscopy showed optic disc edema with telangiectasia in the right eye, while the left eye had optic disc atrophy. We ruled out nearly all possible and common causes of optic neuropathy, and vitamin B12 deficiency was finally diagnosed. After treatment with vitamin B12, the patient improved. CONCLUSIONS: Demyelinating disease, anterior ischemic optic neuropathy, non-arteritic anterior ischemic optic neuropathy, autoimmune disease, and hereditary optic neuropathy could cause optic neuropathy. Normal CBC parameters and the absence of clinical manifestations of vitamin B12 deficiency could not rule out its diagnosis. Careful physical examinations and history-taking with a classical approach led us to the diagnosis of vitamin B12 deficiency and its treatment.

19.
Iran Red Crescent Med J ; 18(6): e24620, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27621920

RESUMEN

INTRODUCTION: The syndrome of spontaneous intracranial hypotension has been increasingly diagnosed since its discovery through magnetic resonance imaging (MRI). It is a rare syndrome that is due to the leakage of cerebrospinal fluid (CSF) from a tear in the dura and can occur at any age, even among adolescents, but is most frequently seen among females in late middle age. CASE PRESENTATION: Here, we describe a 32-year-old woman with a two-month history of headaches and occasional nausea and vomiting (N/V). MRI without gadolinium was normal, but meningeal enhancement was seen in MRI with gadolinium. The lumbar puncture revealed a low opening pressure. Computed tomography myelography (CT myelography) showed no leakage; Therefore, idiopathic intracranial hypotension was diagnosed. Treatment was started using tea, and the patient's headache got significantly better in about a day. CONCLUSIONS: Conservative therapy, such as bed rest and caffeine treatment with eight cups of tea daily, yielded a significant improvement in our patient. Effectively, the patient constitutes a case of idiopathic intracranial hypotension due to undetectable CSF leakage or hyper-absorption, with good response to conservative management through tea-drinking. Further investigations with an appropriate sample size are needed in order to confirm this intervention in the treatment of idiopathic intracranial hypotension.

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