Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review.

PURPOSE: Progressive myoclonic epilepsy type one is a neurodegenerative disorder characterized by action- and stimulus-sensitive myoclonus, tonic-clonic seizures, progressive cerebellar ataxia, preserved cognition, and poor outcome. The authors report clinical, neurophysiological, radiological, and genetic findings of an Emirati family with five affected siblings and review the literature. METHODS: All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined. RESULTS: Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females. The median age at onset was three years. Action- or stimulus-sensitive myoclonus and generalized seizures were recorded in 100% of our patients, at median age at onset of 3 and 4 years, respectively. Multisegmental myoclonus and generalized status myoclonicus were observed in 80% of our patients. Dysarthria and ataxia developed in 100% of our patients. Vitamin D deficiency and recurrent viral infections were noticed in 100% of our cohort. Cognitive, learning, and motor dysfunctions were involved in 100% of our patients. The sphincters were affected in 60% of our patients. Abnormal EEG was recorded in 100% of our cohort. Generalized brain atrophy progressively occurred in 60% of our patients. Phenytoin and carbamazepine were used in 60% of our patients with worsening effect. Valproate and levetiracetam were used in 100% of our patients with improving effect. CONCLUSIONS: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

Management options of chronic low back pain. A randomized blinded clinical trial.

OBJECTIVE: To compare efficacies of 2 active programs in the management of chronic low back pain (CLBP). METHODS: This prospective, stratified, randomized single-blinded controlled study was conducted in the Department of Rehabilitation Medicine, King Abdullah University Hospital, Irbid, Jordan, between February and December 2010. A total of 100 patients were randomized to either 6-weeks of multidisciplinary rehabilitation (group A) or therapist-assisted exercise (group B). At baseline and 6 weeks, the visual analogue scale (VAS) pain score was estimated, as a primary outcome measure. McGill pain score, Oswestry Disability Index (ODI), trunk forward flexion and extension, left and right lateral bending, were applied before and after treatment and were employed as secondary outcome measures. RESULTS: All outcome measures significantly improved in group A after treatment, compared with group B. The VAS, McGill, ODI scores, left and right lateral bending decreased significantly, whereas forward and backward bending increased. A significant number of patients returned to work in group A at the end of 6 weeks, compared with group B. These effects were maintained over 12 and 24 weeks of follow-up. CONCLUSION: Multidisciplinary rehabilitation improved functional indices and pain scale scores in group A compared with B. This would be an effective strategy in CLBP management.

Acute ischemic stroke: relationship of brain lesion location & functional outcome.

PURPOSE: To establish, using brain spiral computerised tomography (SCT) and modified Barthel index (MBI), whether the location of cerebral infarction could be correlated with functional outcome in acute ischemic stroke patients who undergo early intensive rehabilitation. METHODS: Observational cohort, assessor blinded and correlational prospective 12-weeks study that included 111 acute ischemic stroke patients, admitted consecutively to an early intensive inpatient rehabilitation programme (5 days a week, 3-5 h a day) during 2003. Confirmation of diagnosis and stratification was done by brain SCT. Brain lesion locations were correlated to motor performance and functional outcome, on admission and discharge, using MBI. RESULTS: Statistical analysis demonstrated a significant correlation between motor performance, functional outcome and brain lesion locations. The groups with deep, combined deep and large superficial, small superficial and large superficial infarcts showed the most consistent improvement in that order of frequency. Normal brain SCT group did not reach statistical significance (p = 0.051) while the bi-hemispheric infarcts group did not show any change. The inter and intra group differences were highly significant (p < 0.05). CONCLUSIONS: Immediate non-contrasted brain SCT may act as an independent predictor of final functional outcome in acute ischemic stroke. It may provide clinicians with an opportunity to offer realistic expectations to stroke patients and their relatives.

Cerebral venous thrombosis: a descriptive multicenter study of patients in Pakistan and Middle East.

BACKGROUND AND PURPOSE: The natural history, causative factors, and outcomes of patients with cerebral venous thrombosis from Asia and Middle East have not been well described. This descriptive multicenter study describes the results for cerebral venous thrombosis patients in South Asia and the Middle East. METHODS: The retrospective and prospective data of patients with radiologically confirmed cerebral venous thrombosis were collected from 4 centers located in Pakistan and United Arab Emirates. The demographic, clinical, radiological, and outcome data were recorded and analyzed. Primary outcome was death or dependency (modified Rankin score >2) at the time of hospital discharge. RESULTS: This study included 109 patients with cerebral venous thrombosis; the presenting features most commonly being observed were headache (81%), focal motor deficits (45%), seizures (39%), and mental status changes (37%). Important predisposing factors included systemic and central nervous system infection (18%), postpartum state (17%), hyperhomocystinemia (9%), genetic thrombophilia (5%), and oral contraceptive pill use (3%). Ninety-six (67%) patients received therapeutic anticoagulation. Seven patients died and 43 had poor outcome at discharge. Focal motor deficits (OR, 2.93; 95% CI, 1.2-7.5; P=0.018) and hemorrhagic infarctions (OR, 2.81; 95% CI, 1.04-7.85; P=0.041) were independent predictors of unfavorable outcome at discharge. Hemorrhagic infarction was the most significant factor of long-term unfavorable outcome (OR, 5.87; 95% CI, 1.49-23.02; P=0.011). CONCLUSIONS: Infections and postpartum state were the most common predisposing factors for cerebral venous thrombosis in this cohort. Most patients (67%) were treated with anticoagulation therapy. Almost 50% of patients were dead or disabled at discharge.

Effect of risk factors on functional outcome after stroke rehabilitation.

OBJECTIVE: The incidence of stroke and the demand for rehabilitation services continues to increase. Risk factors may act as stroke outcome predictors and hence determine the type and intensity of rehabilitation. Our aim is to investigate stroke outcome predictors that will define groups with maximal or minimal benefit from rehabilitation after stroke. METHODS: Our longitudinal prospective study included 111 ischemic stroke patients, admitted consecutively to the Rehabilitation Department, Hamad Medical Corporation, Qatar, during 2000-2001. We analyzed the influence of modifiable risk factors: diabetes mellitus (DM), hypertension (HTN), ischemic heart disease (IHD) and non-modifiable factors: age, gender, race and side of lesion on stroke outcome. All patients received regular rehabilitation and underwent an evaluation on admission and discharge, using the Modified Barthel Index. RESULTS: Statistical analysis demonstrated that the group of patients with IHD showed greatest improvement after 3 months of rehabilitation. The group without co-morbidities followed this, and then the HTN, DM, combined DM and HTN and combined HTN and IHD groups. The group that suffered from combined DM, HTN, and IHD did not show improvement. Non-modifiable risk factors showed no significant differences. However, younger patients showed a tendency for better improvement. CONCLUSION: Those patients with modifiable risk factors had significant impact on rehabilitation outcome (p-value = 0.009). Those with one or 2 co-morbidities had the highest score of improvement after rehabilitation while the group of patients with more than 2 co-morbidities did not show improvement. However, non-modifiable risk factors did not play a significant role in stroke outcome.

Homocystinemia and stroke in vegetarians.

Homocysteine is a sulfurated amino acid with a central role in the metabolism of thiol compounds. Homocystinemia is a recognized independent potentially remediable risk factor for vascular disease. It is associated with both macro and micro vascular ischemic stroke. It can often be normalized by polyvitamin therapy. This inexpensive and well-tolerated treatment is considered effective in decreasing the incidence of stroke. We report 2 young strict vegetarians with no known vascular risk factors. The first suffered a left middle cerebral artery infarct, and the second multiple bilateral small cerebral infarctions. Extensive investigations showed moderately elevated homocysteine and low serum B12 levels, suggesting that these are most probably the underlying etiology. We believe that a high index of suspicion is needed, particularly in younger people with a potential underlying cause for B12 deficiency and no identifiable stroke risk factor.

Autonomy and rehabilitation.

In minority world countries, autonomy is central to client focused rehabilitation, as it represents a prerequisite for effective participation in the process of rehabilitation. The diverse and dynamic paradoxes within the "autonomy paradigm" will ensure its safe application and survival in such communities. However, the strong family relationships and different cultural backgrounds of majority world countries motivate us to conclude that a "patient-family interactive deliberative process" based on accommodation and negotiation is more acceptable, reliable and implementable in these communities. Our suggested model of decision making is more convenient, particularly in cases where competency is compromised by cognitive dysfunction, political or religious restrictions. The insistence on absolute autonomy beyond such borders could be counter productive for both patients and health care personnel. Clearly, the need for further research is paramount, as a deeper understanding of the various cultures and subcultures is essential for developing a more useful structural framework for rehabilitation.