Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.

BACKGROUND: Neurodegeneration with Brain Iron Accumulation (NBIA) disorder is a group of ultra-orphan hereditary diseases with very limited data on its course. OBJECTIVES: To estimate the probability of preserving ambulatory ability and survival in NBIA. METHODS: In this study, the electronic records of the demographic data and clinical assessments of NBIA patients from 2012 to 2023 were reviewed. The objectives of the study and factors impacting them were investigated by Kaplan-Meier and Cox regression methods. RESULTS: One hundred and twenty-two genetically-confirmed NBIA patients consisting of nine subtypes were enrolled. Twenty-four and twenty-five cases were deceased and wheelchair-bound, with a mean disease duration of 11 ± 6.65 and 9.32 ± 5 years. The probability of preserving ambulation and survival was 42.9% in 9 years and 28.2% in 15 years for classical Pantothenate Kinase-Associated Neurodegeneration (PKAN, n = 18), 89.4% in 7 years and 84.7% in 9 years for atypical PKAN (n = 39), 23% in 18 years and 67.8% in 14 years for Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN, n = 23), 75% in 20 years and 36.5% in 33 years for Kufor Rakeb Syndrome (KRS, n = 17), respectively. The frequencies of rigidity, spasticity, and female gender were significantly higher in deceased cases compared to surviving patients. Spasticity was the only factor associated with death (P value = 0.03). CONCLUSIONS: KRS had the best survival with the most extended ambulation period. The classical PKAN and MPAN cases had similar progression patterns to loss of ambulation ability, while MPAN patients had a slower progression to death. Spasticity was revealed to be the most determining factor for death.

Third COVID-19 vaccine dose for people with multiple sclerosis who did not seroconvert following two doses of BBIBP-CorV (Sinopharm) inactivated vaccine: A pilot study on safety and immunogenicity.

Background: People with multiple sclerosis (pwMS) on anti-CD20 therapies (aCD20) and fingolimod have shown inadequate humoral responses to COVID-19 vaccines. Objective: The objective of the study was to pilot larger studies by demonstrating the safety and comparing the immunogenicity of different types of third doses in seronegative pwMS after two doses of BBIBP-CorV inactivated vaccine. Methods: In December 2021, subject to receiving their third dose, being COVID-19-naiive, and receiving no corticosteroid within two months, we measured the level of anti-SARS-CoV-2-Spike IgG in pwMS seronegative after two shots of BBIBP-CorV inactivated vaccine. Results: We included 20/29 pwMS who received adenoviral vector (AV), 7/29 who received inactivated, and 2/29 who received conjugated third doses. No serious adverse events were reported two weeks post-third dose. The pwMS receiving AV third doses showed significantly increased IgG concentrations, while only the ones not on aCD20 and fingolimod responded to inactivated third doses. An ordinal logistic multivariable generalized linear model indicated that age (per year ß: -0.10, P = 0.04), type of disease-modifying therapy (aCD20 ß: -8.36, P <0.01; fingolimod ß: -8.63, P = 0.01; others: reference), and type of third dose (AV or conjugated ß: 2.36, P = 0.02; inactivated: reference) are predictive of third dose immunogenicity among pwMS who remain seronegative after two shots of BBIBP-CorV vaccine. Statistical significance was not achieved for variables sex, MS duration, EDSS, duration of DMT, duration of third dose to IgG test, and duration from last aCD20 infusion to third dose. Conclusion: This preliminary pilot study highlights the need for further research to determine the optimal COVID-19 third dose vaccination strategy for pwMS living in areas where BBIBP-CorV vaccine has been used.

Effects of anti-Inflammatory-antioxidant-rich diet and co-supplemented synbiotics intervention in patients with progressive forms of multiple sclerosis: a single-center, single-blind randomized clinical trial.

BACKGROUND: Current evidence has demonstrated that patients with Multiple Sclerosis (MS) have dysbiotic gut microbiomes, and anti-inflammatory nutritional interventions can normalize this status. Therefore, we aimed to investigate the effects of dietary intervention in patients with progressive forms of MS. METHODS: Seventy patients with three forms of progressive MS (primary-progressive, secondary-progressive, and progressive-relapsing) were randomly assigned into intervention (daily synbiotics capsule plus anti-inflammatory-antioxidant rich diet) or control (placebo capsule plus dietary recommendations) groups for four months. Faecal calprotectin level, Impact of Vision Impairment (IVI), Gastrointestinal Symptom Rating Scale (GSRS), and anthropometric measurements were evaluated at baseline and trial cessation. Analysis of covariance was conducted and adjusted for age, gender, education level, family history & duration of MS, type of progressive MS, type of main drug, and physical activity. RESULTS: Sixty-nine participants were included in the final analysis (n of intervention = 34; n of control = 35). Synbiotics and dietary intervention significantly reduced Faecal calprotectin level after six months (110.5 ± 75.9-44.7 ± 49.3 É¥g/g, P < 0.001), and mean changes were statistically significant in comparison with control group. However, intervention did not elicit any change in the anthropometric measurements. CONCLUSION: Synbiotics supplementation and adherence to an anti-inflammatory-antioxidant-rich diet reduced intestinal inflammation and improved clinical manifestations in progressive forms of MS.Trial registration: Iranian Registry of Clinical Trials identifier: IRCT20141108019853N7..

The effects of Mediterranean diet on severity of disease and serum Total Antioxidant Capacity (TAC) in patients with Parkinson's disease: a single center, randomized controlled trial.

Background: Parkinson's disease (PD) as one of the most common neurodegenerative disorders may be affected by healthy dietary pattern. The aim of this study was to investigate the effects of the Mediterranean Diet (MeD) on serum Total Antioxidant Capacity (TAC) and disease severity in PD patients.Materials & Methods: In this single-center randomized clinical trial, patients with idiopathic PD (n = 80) were selected randomly allocated to either MeD or control group (Iranian traditional diet); an individualized dietary plan based on the MeD was designed. Serum TAC and the motor & non-motor disease aspects using the Unified Parkinson's Disease Rating Scale (UPDRS) were evaluated in two groups. Statistical Analysis of data was performed using SPSS 24.Results: 70 PD patients with a mean age of 58.96 ± 8.7 and UDPRS of 41.66 ± 20.19 were analyzed in this study. MeD significantly increased serum TAC (P < 0.001). UPDRS score was also lowered in MeD group (P < 0.05).Conclusions: Mediterranean diet seems to have some benefits in PD. as well, TAC levels can also be affected by MeD. Anyway, further studies are needed to confirm the mentioned outcomes.Trial registration: Iranian Registry of Clinical Trials identifier: IRCT20141108019853N4.

The Prevalence of Osmophobia in Migranous and Episodic Tension Type Headaches.

BACKGROUND: Migraines are a neurological disease, of which the most common symptom is an intense and disabling episodic headache. Many persons experience sensory hyper excitability manifested by photophobia, phonophobia and osmophobia. This study was planned to investigate the prevalence of osmophobia in migranous and episodic tension type headache (ETTH). MATERIALS AND METHODS: A semi-structured questionnaire was administered to all patients to evaluate the eventual presence of osmophobia during a headache attack and different characteristics of osmophobia were determined. RESULTS: Osmophobia reported in 84% with migranous headache with aura, 74% of migranous patients without aura and in 43.3% of those with ETTH. In 50% of patients, osmophobia was present in all of their headache attacks, 11.7% had osmophobia in more than half of their attacks (from 10 attacks they reported osmophobia in 5-9 ones) and others had this sign in less than half of their attacks (from 10 attacks they reported osmophobia in less than 5 ones). Most frequently the offending odors were scents (88%), foods (54.2%) and cigarette smoke (62.5%). Osmophobia starts 30 min before the headache starts in 22.7% of patients. CONCLUSION: Osmophobia appears structurally integrated into the migraine history of the patient; however, for differential diagnosis with ETTH, other criteria are necessary.

Supratentorial cortical ependymoma: An unusual presentation of a rare tumor.

Ependymomas are glial tumors derived from ependymal cells lining the ventricles and the central canal of the spinal cord. Two thirds of ependymomas arise in the infratentorial or intraventricles, whereas one-third are located in supratentorial space. But supratentorial "cortical" ependymomas are very rare. We report a case of a cortical ependymoma in a 17-year-old boy. The patient presented with transient recurrent right weakness and diplopia. This tumor was located in the left parieto-occipital region and he had gross total excision. Microscopy and immunohistochemistry showed grade III differentiation ependymoma.

How frequent is celiac disease among epileptic patients?

BACKGROUND: A variety of neurological disorders have been reported in association with celiac disease (CD) including epilepsy, ataxia, neuropathy and multifocal leucoencephalopathy. The purpose of this study was to assess the prevalence of CD among epileptic patients. METHODS: Our study population consisted of 108 consecutive unexplained epileptic patients from Epilepsy Clinics. Patients who were able to give informed consent were invited to undergo screening for CD in a gastroenterology clinic. The diagnosis of CD was determined by IgA anti-tissue transglutaminase (t-TG) antibodies and by small intestine biopsy. Histopathologic changes were interpreted according to the Marsh classification. RESULTS: A total of 108 consecutive epileptic patients (72 females, 36 males) ranging from 2-64 years (mean: 23.44, SD: 12.1) were studied. Positive IgA anti t-TG were detected in 4 of 108 epileptic patients (3.7%), while the known prevalence of CD in the study area was 0.6%.The intestinal biopsy confirmed the diagnosis of CD in three patients and was interpreted as Marsh I. In the other patient, small intestinal biopsy indicated only slightly increased number of intraepithelial lymphocytes. There was a significant difference between patients with CD and without CD for two symptoms: diarrhea and aphtous lesions (p<0.05). CONCLUSION: Prevalence of CD was increased among patients with epilepsy of unknown etiology. It is important to investigate CD in any patient with idiopathic epilepsy even in the absence of digestive symptoms.