Lafora disease: a case report, pathologic and genetic study

A 19-year-old male patient presented with progressive myoclonic seizures and speech disorder. The patient had photosensitivity, a few episodes of sudden transient blindness, and infrequent complex visual auras, dysarthria and mild ataxia, frequent myoclonic jerks prominently in the legs and severe dementia. Microscopic examination of the axillary skin biopsy revealed periodic acid-Schiff positive inclusion bodies in abluminal side of the apocrine sweat gland acini. Molecular screening showed a homozygous R241X mutation in EPM2A. Genotyping helps in the correct diagnosis of the Lafora disease (LD), which may be difficult to diagnose based on the available histopathological testing only. Our study is an effort to determine the distribution of mutations in LD patients in our region.     

A 22-week, multicenter, randomized, double-blind controlled trial of Crocus sativus in the treatment of mild-to-moderate Alzheimer’s disease

Rationale

There is increasing evidence to suggest the possible efficacy of Crocus sativus (saffron) in the management of Alzheimer’s disease (AD).

Objective

The purpose of the present investigation was to assess the efficacy of C. sativus in the treatment of patients with mild-to-moderate AD.

Methods

Fifty-four Persian-speaking adults 55 years of age or older who were living in the community were eligible to participate in a 22-week, double-blind study of parallel groups of patients with AD. The main efficacy measures were the change in the Alzheimer’s Disease Assessment Scale—cognitive subscale and Clinical Dementia Rating Scale—Sums of Boxes scores compared with baseline. Adverse events (AEs) were systematically recorded. Participants were randomly assigned to receive a capsule saffron 30 mg/day (15 mg twice per day) or donepezil 10 mg/day (5 mg twice per day).

Results

Saffron at this dose was found to be effective similar to donepezil in the treatment of mild-to-moderate AD after 22 weeks. The frequency of AEs was similar between saffron extract and donepezil groups with the exception of vomiting, which occurred significantly more frequently in the donepezil group.

Conclusion

This phase II study provides preliminary evidence of a possible therapeutic effect of saffron extract in the treatment of patients with mild-to-moderate Alzheimer’s disease. This trial is registered with the Iranian Clinical Trials Registry (IRCT138711051556N1).     

The effects and side effects of laquinimod for the treatment of multiple sclerosis patients: a systematic review and meta-analysis of clinical trials

European Journal of Clinical Pharmacology - Although studies have shown the efficacy of laquinimod (LAQ) on disease progression in patients with multiple sclerosis (MS), there is some controversy...     

Complication of a columellar strut in an edentulous patient

The cartilaginous columellar strut is a well established, commonly used graft in rhinoplasty which provides support and stability to the nasal base. The risk of such a graft is related to grafts designs, whereby the posterior aspect can cause clicking with movement across the anterior nasal spine. We present an additional unusual complication of ill-fitting maxillary dentures in an edentulous patient, previously not reported in the literature. This unique complication should alert facial plastic surgeons to use additional caution when sculpting columellar grafts in edentulous patients in order to avoid potential post-operative complications in this specific patient population.     

Saffron in the treatment of patients with mild to moderate Alzheimer’s disease: a 16‐week,randomized and placebo‐controlled trial

What is known: Herbal medicines have been used in the treatment of behavioural and psychological symptoms of dementia but with variable response. Crocus sativus (saffron) may inhibit the aggregation and deposition of amyloid β in the human brain and may therefore be useful in Alzheimer’s disease (AD). Objective: The goal of this study was to assess the efficacy of saffron in the treatment of mild to moderate AD. Methods: Forty‐six patients with probable AD were screened for a 16‐week, double‐blind study of parallel groups of patients with mild to moderate AD. The psychometric measures, which included AD assessment scale‐cognitive subscale (ADAS‐cog), and clinical dementia rating scale‐sums of boxes, were performed to monitor the global cognitive and clinical profiles of the patients. Patients were randomly assigned to receive capsule saffron 30 mg/day (15 mg twice per day) (Group A) or capsule placebo (two capsules per day) for a 16‐week study. Results: After 16 weeks, saffron produced a significantly better outcome on cognitive function than placebo (ADAS‐cog: F = 4·12, d.f. = 1, P = 0·04; CDR: F = 4·12, d.f. = 1, P = 0·04). There were no significant differences in the two groups in terms of observed adverse events. What is new and conclusion: This double‐blind, placebo‐controlled study suggests that at least in the short‐term, saffron is both safe and effective in mild to moderate AD. Larger confirmatory randomized controlled trials are called for.     

Granulocyte Colony-Stimulating Factor for Amyotrophic Lateral Sclerosis: A Randomized,Double-Blind,Placebo-Controlled Study of Iranian Patients

MethodsForty subjects with ALS were randomly assigned to two groups, which received either subcutaneous G-CSF (5 µg/kg/q12h) or placebo for 5 days. The subjects were then followed up for 3 months using the ALS Functional Rating Scale-Revised (ALSFRS-R), manual muscle testing, ALS Assessment Questionnaire-40, and nerve conduction studies. CD34+/CD133+ cell count and monocyte chemoattractant protein-1 (MCP-1) levels were evaluated at baseline.ResultsThe rate of disease progression did not differ significantly between the two groups. The reduction in ALSFRS-R scores was greater in female subjects in the G-CSF group than in their counterparts in the placebo group. There was a trend toward a positive correlation between baseline CSF MCP-1 levels and the change in ALSFRS-R scores in both groups (Spearman''s ρ=0.370, p=0.070).ConclusionsWith the protocol implemented in this study, G-CSF is not a promising option for the treatment of ALS. Furthermore, it may accelerate disease progression in females.     

Case report of a congenital lingual leiomyomatous hamartoma: New epidemiologic findings and a review of the literature

We present an unusual case of a lingual leiomyomatous hamartoma, along with a current literature review of this previously under reported lesion. Described is a case of a 5 month-old male presenting with a posterior midline tongue mass and surgical excision yielded pathology consistent with a leiomyomatous hamartoma. A comprehensive literature review revealed thirty-nine cases of leiomyomatous hamartomas, a number much greater than previously reported. We conclude that these rare lesions are notably twice as common as previously reported and have equal gender predilection.     

Non-invasive brain mapping of motor-related areas of four limbs in patients with clinically isolated syndrome compared to healthy normal controls

Functional MRI studies on patients with multiple sclerosis (MS) have demonstrated widespread cortical reorganization of the motor network. However, few functional studies have addressed cortical plasticity in patients with clinically isolated syndrome (CIS). The activity of the lower limb motor system, despite its highlighted involvement in patients with CIS and MS, has been little studied. Thus, brain activation was compared in CIS patients with clinically intact motor systems with that in healthy control participants while they were performing motor tasks with four limbs. A total of 26 right-handed patients with CIS with clinically intact motor systems and 28 right-handed age and sex-matched controls participated in the functional MRI (fMRI) motor task. Patients with CIS showed greater activation in the ipsilateral secondary somatosensory cortex, cingulate gyrus and precuneus cortex while performing the ankle movement task compared to healthy controls. In the finger-tapping task, patients with CIS showed greater activity in the contralateral thalamus, ipsilateral premotor and superior temporal gyrus. In addition, the left inferior frontal gyrus was activated more in patients with CIS, regardless of the hand used. Therefore, despite having clinically intact motor systems, patients with CIS had different motor networks. All novel recruited regions were adjacent to the somatotopy of the primary motor areas of the limbs. Our finding confirm that brain reorganization precedes clinical manifestation, as no patient had any clinical manifestation that suggested involvement of the motor system.