Our data from a large cohort of patients with LS provide evidence of an increased risk for family members to develop LS. This indicates a likely genetic component in the aetiology of LS.

No abstract

Early identification of dysphagia by screening is recommended best practice for patients admitted to hospital with acute stroke. Screening can reduce the risk of pneumonia and promote stroke recovery, yet some institutions do not utilize a formal screening protocol. This study assessed the accuracy of informal dysphagia detection prior to implementation of a formal screening protocol. We conducted a secondary analysis of data captured between 2003 and 2008 from a sample of 250 adult stroke survivors admitted to a tertiary care centre. Using a priori criteria, patient medical records were reviewed for notation about dysphagia; if present, the date/time of notation, writer's profession, and suggestion of dysphagia presence. To assess accuracy of notations indicating dysphagia presence, we used speech language pathology (SLP) assessments as the criterion reference. There were 221 patient medical records available for review. Patients were male (56%), averaged 68 years (SD = 15.0), with a mean Canadian Neurological Scale score of 8.1 (SD = 3.0). First notations of swallowing by SLP were excluded. Of the remaining 170 patients, 147 (87%) had first notations (104 by nurses; 40 by physicians) within a median of 24.3 h from admission. Accuracy of detecting dysphagia from informal notations was low, with a sensitivity of 36.7% [95% CI, 24.9, 50.1], but specificity was high (94.2% [95% CI, 86.5, 97.9]). Informal identification methods, although timely, are suboptimal in their accuracy to detect dysphagia and leave patients with stroke at risk for poor health outcomes. Given these findings, we encourage the use of psychometrically validated formal screening protocols to identify dysphagia.

The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF), make about 80% of the population. The aim is to reveal the molecular causes of CF in ethnic Russian patients as comprehensively as possible. The analysis of most common CFTR mutations utilized for CF diagnosis in multiethnic RF population accounts for about 83% of all CF-causing mutations in 1384 ethnic Russian patients. Variants c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.2012delT (2143delT), c.2052_2053insA (2184insA), and c.3691delT (3821delT) are most typical for CF patients of Russian origin. DNA of 154 CF patients, Russian by origin, in whom at least one mutant allele was not previously identified (164 CF alleles), was analyzed by Sanger sequencing followed by the multiplex ligase-dependent probe amplification (MLPA) method. In addition to the 29 variants identified during the previous test for common mutations, 91 pathogenic CFTR variants were also revealed: 29 missense, 19 nonsense, 14 frame shift in/del, 17 splicing, 1 in frame ins, and 11 copy number variations (CNV). Each of the 61 variants was revealed once, and 17 twice. Each of the variants c.1209G>C (E403D), c.2128A>T (K710X), c.3883delA (4015delA), and c.3884_3885insT (4016insT) were detected for three, c.1766+1G>A (1898+1G>A) and c.2834C>T (S945L) for four, c.1766+1G>C (1898+1G>C) and c.(743+1_744-1)_(1584+1_1585-1)dup (CFTRdup6b-10) for five, c.2353C>T (R785X) and c.4004T>C (L1335P) for six, c.3929G>A (W1310X) for seven, c.580-1G>T (712-1G>T for eight, and c.1240_1244delCAAAA (1365del5) for 11 unrelated patients. A comprehensive analysis of CFTR mutant alleles with sequencing followed by MLPA, allowed not only the identification of 163 of 164 unknown alleles in our patient sample, but also expansion of the mutation spectrum with novel and additional frequent variants for ethnic Russians.