Purpose. To determine whether the presence of cognitive impairment (CI) affects physical recovery of patients with chronic heart failure (CHF) undergoing a cardiac rehabilitation program (CRP). Methods. We enrolled 80 CHF patients (M/F = 53/27). CI was evaluated by means of the Mini-Mental State Examination (MMSE), exercise tolerance was evaluated by six-minute walking test (6 mwt). All patients underwent a 6-week CRP program at 50–70% of maximal VO2. Patients were divided into two groups according to their MMSE (group 1: 16–23; group 2: 24–30). Results. MMSE resulted directly related to ejection fraction (r = 0.42; P = 0.03), and it was inversely related to creatinine (r = −0.36; P = 0.04). At 6 week group 1 had a lower increase in distance walked at 6 MWT than group 2 (P = 0.008). At multivariate logistic regression MMSE 16–23 predicted a reduced exercise recovery in the overall population (OR = 1.84; 95% CI = 1.50–2.18) and in women (OR = 1.42; 95% CI = 1.22–1.75), while it was not predicted in males. Conclusions. CI is a marker of advanced CHF and is an independent predictor of lower exercise recovery after CRP.

The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.

Background

A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations previously identified by Sanger sequencing. The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state.

Results

The DNA was combined in 4 pools containing from 27 to 164 amplicons and from 8,9 to 50,8 Kb to sequence for a total of 110 Kb. Pyrosequencing generated over 80 million base pairs of data. Blind searching for sequence variations with a specifically designed bioinformatics procedure identified 465 putative sequence variants, including 412 true variants, 53 false positives (in or adjacent to homopolymeric tracts), no false negatives. All known variants in positions covered with at least 30× depth were correctly recognized.

Conclusion

Massively parallel pyrosequencing may be used to simplify and speed the search for DNA variations in PCR products. Our results encourage further studies to evaluate molecular diagnostics applications.