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.

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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.

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.

No abstract

Background Early identification of dysphagia aims to mitigate the risk of health consequences in adults poststroke; however, the evidence from experimental trials alone is inconclusive. This meta‐analysis assessed dysphagia screening benefit from both trial and observational data. Methods and Results Seven electronic databases were searched to December 2019. Unique abstracts and full articles were screened for eligibility by 2 independent blinded raters using a priori criteria and discrepancies resolved by consensus. Included studies were summarized descriptively and assessed for methodological quality using Cochrane Risk of Bias Tool. Across studies, pooled estimates of health benefit were derived for homogeneous data using Review Manger 5.3. From the yield of 8860 citations, 30 unique articles were selected: 24 observational and 6 randomized trials. Across studies, comparisons varied: no screening versus screening, late versus earlier screening, informal versus formal screening, pre‐ versus postscreening, and pre‐ versus poststroke guidelines that included screening. Pooled estimates across comparisons favored experimental groups for pneumonia odds ratio (OR), 0.57 (95% CI, 0.45–0.72), mortality OR, 0.52 (95% CI, 0.35–0.77), dependency OR, 0.54 (95% CI, 0.35–0.85), and length of stay standardized mean difference, −0.62 (95% CI, −1.05 to −0.20). Conclusions Combining evidence from experimental and observational studies derived a significant protective health benefit of dysphagia screening following adult acute stroke for pneumonia, mortality, dependency, and length of stay.

AIM This systematic review targeted frequency estimates of dysphagia (feeding and swallowing problems), related health outcomes, and caregiver burden in children with stroke or unilateral cerebral palsy (CP).METHOD Six electronic databases were searched from their inception to November 2017 along with a manual search of eight relevant journals. Two blinded raters assessed abstracts and full articles for eligibility. Discrepancies were resolved by consensus. Accepted articles were evaluated for quality. Data were extracted and analysed descriptively. RESULTSOf 1660 abstracts, five met inclusion criteria, of which three focused on stroke and two unilateral CP. Across studies, operational definitions of feeding and swallowing varied. Insufficient details were provided on assessment methods and timing. Reported frequencies of dysphagia ranged from 24.2% to 88.6%. One study reported dysphagia-related health outcomes and none reported caregiver burden.INTERPRETATION These results suggest that dysphagia is common in children with stroke and unilateral CP; however, its frequency is yet unknown as is its impact on health and caregiver burden. Availability of a standardized tool to identify dysphagia in these children accurately is a recommended first step to address this evidence gap.

SummaryThis study was aimed at development of cystic fibrosis (CF) patient register for those living at Moscow and Moscow region. The CF patients living in Moscow region were found to have some clinical, genetic and bacteriological differences from CF patients living at the Western Europe. The median survival in 2003-2012 was 39.5 years. Aging of CF patients was associated to reduction in respiratory function, occurrence of more aggres sive respiratory pathogens, increase in respiratory and gastrointestinal complication rate. Key words: cystic fibrosis, register, age related features. РезюмеЦелью исследования явилось создание регистра больных муковисцидозом (МВ), проживающих в Москве и Московской области. Пока зано, что больные МВ московского региона имеют ряд клинико генетических и микробиологических особенностей по сравнению с пациентами ряда западных стран. Медиана выживаемости за период 2003-2012 гг. составила 39,5 лет. Продемонстрировано, что взрос ление больного МВ сопровождается снижением респираторной функции, сменой микрофлоры дыхательных путей на более агрессив ную, нарастанием частоты осложнений со стороны органов дыхания и пищеварения. Ключевые слова: муковисцидоз, регистр, возрастные особенности.