IN-HOSPITAL STROKE RECURRENCE OF ACUTE ISCEMIC STROKE

BACKROUND: Stroke survivors are athigh risk of recurrent stroke, communitybasedstudies show that this risk is about30%. Recurrent strokes tend to be moredeadly than the first stroke and lead tofurther neurological impairment. In thissudy, in-hospital stroke recurrence ina university hospital stroke unit settingwere investigated.PATIENTS AND METHODS: Strokeregistry data of 2128 patients hospitalizedat the Istanbul Faculty of Medicine,Department of Neurology, Edip AktinStroke Unit between 1994-2007 wereevaluated. Recurent stroke was definedas a new neurological deficit not causedby neurological complications such asedema, mass effect or hemorrhagic transformationor progression of the indexevent. Clinical, laboratory and neuroimagingfindings of 67 recurrent ischemicstroke patients were compared with ischemicstroke patients (n = 1658) withoutany recurrence. Statistical methods usedwere; chi-squared test for parametricvariables, t-test for continuous variablesand univariate and multivariate analysisusing SPSS version 15.0.RESULTS: In- hospital stroke reccurencerate was 3.9% (n = 83/2128) inall stroke patients and %4 in ischemicstroke (IS) patients. There were no statisticallysignificant differences betweenIS patients with and without recurrencein terms of demographic features, andmost traditional risk factors. Only peripheralvascular disease frequency wassignificantly higher in the recurrent stroke group (p = 0.05, 95% CI = 0.98 to5.524). Posterior circulation syndrome(POCS) and was significantly more frequentlyencountered in the recurrentstroke group (p = 0.012).The most importantfactor in determining the recurrenceof IS was large artery atherosclerosis(LAS) (p <0.001, 95% CI = 0.062 to0.44).CONCLUSION: In a stroke unit whereacute stroke treatments were mostly unavailable,a higher in-hospital stroke recurrencerate associated with LAS in ISpatients may be indicative of the importanceof early theraputic intervention

Four Individuals with a Homozygous Mutation in Exon 1f of thePLECGene and Associated Myasthenic Features

We identified the known c.1_9del mutation in thePLECgene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated withPLECmutations and the role of plectin in the neuromuscular junction

Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function of TTR, which dissociates from its native tetramer form to a monomer form and aggregates in several tissues and organs. Mutations in the TTR gene lead to this amyloidogenic transformation and cause autosomal dominant disease. TTR-FAP typically causes sensorimotor FAP accompanied by autonomic involvement, but considerable phenotypic diversity is noted between different mutation types. In the event of clinical suspicion, TTR gene sequencing and pathologic confirmation are the recommended paths to follow. Significant improvement has been achieved in treating the disease over the past 20 years, starting with liver transplantation, followed by tetramer stabilizers and TTR-lowering therapies. Although there are still some uncertainties in diagnosing and treating TTR-FAP, recent advances are promising, especially in the field of treatmen

Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function of TTR, which dissociates from its native tetramer form to a monomer form and aggregates in several tissues and organs. Mutations in the TTR gene lead to this amyloidogenic transformation and cause autosomal dominant disease. TTR-FAP typically causes sensorimotor FAP accompanied by autonomic involvement, but considerable phenotypic diversity is noted between different mutation types. In the event of clinical suspicion, TTR gene sequencing and pathologic confirmation are the recommended paths to follow. Significant improvement has been achieved in treating the disease over the past 20 years, starting with liver transplantation, followed by tetramer stabilizers and TTR-lowering therapies. Although there are still some uncertainties in diagnosing and treating TTR-FAP, recent advances are promising, especially in the field of treatmen