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1.
Heart Rhythm ; 15(7): 1001-1008, 2018 07.
Article in English | MEDLINE | ID: mdl-29458192

ABSTRACT

BACKGROUND: Recommendations regarding performance of magnetic resonance imaging (MRI) in non-MRI conditional pacemaker and defibrillator recipients are evolving. Previous studies have suggested low adverse event rates with MRI in nonconditional cardiac implantable electronic device (CIED) recipients, but low power limits optimal characterization of risk. OBJECTIVE: The purpose of this study was to perform a systematic review and meta-analysis to characterize the clinical risk associated with MRI in CIED recipients in order to improve power. METHODS: PubMed and CINAHL indexed articles from 1990 to 2017 were queried. A random effects model was used for meta-analysis of continuous variables. Safety outcomes were evaluated with descriptive statistics. RESULTS: Seventy studies of non-MRI conditional devices undergoing MRI were identified, allowing for analysis of 5099 patients who underwent a total of 5908 MRI studies. Heterogeneity in lead parameter changes was observed within studies, although smaller variances were noted between studies. All lead characteristics and battery voltages showed very small, clinically insignificant changes when assessed as a pooled cohort, although cases of clinically relevant outcomes were also noted (lead failure 3, implantable cardioverter-defibrillator shock 1, electrical reset 94). Electrical resets were found only in older devices. Defibrillator function was unchanged, and inappropriate shocks were avoided with pre-MRI programming changes. CONCLUSION: This review demonstrated low lead failure and clinical event rates in non-MRI conditional pacemaker and defibrillator recipients undergoing MRI. Observed changes were small and interstudy variance was low, suggesting that the composite event rates offer a reasonable estimate of true effect. The observed adverse events reinforce the need for ongoing vigilance and caution, particularly with older devices.


Subject(s)
Arrhythmias, Cardiac/therapy , Defibrillators, Implantable , Magnetic Resonance Imaging, Cine/standards , Pacemaker, Artificial , Arrhythmias, Cardiac/diagnosis , Equipment Safety , Humans
2.
J Med Genet ; 50(4): 220-7, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23378603

ABSTRACT

BACKGROUND: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma. METHODS: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics. RESULTS: 97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, with CBAVD being the reason for referral in 76%. In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases. Respiratory symptoms were observed in 30% of the patients, but the overall phenotype was mild. No correlation was observed between sweat chloride concentrations and disease severity. Five couples at risk of CF offspring were identified and four benefited from prenatal or preimplantation genetic diagnoses (PND or PGD). Eight children were born, including four who were compound heterozygous for p.Arg117His and one with a severe CF mutation. CONCLUSIONS: Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. Depending on the CBAVD patients' genotype, a CFTR analysis should be considered in their partners in order to identify CF carrier couples and offer PND or PGD.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Male Urogenital Diseases/genetics , Prenatal Diagnosis , Child , Child, Preschool , Cystic Fibrosis/complications , Cystic Fibrosis/pathology , Female , Heterozygote , Humans , Infant , Infant, Newborn , Infertility, Male/complications , Infertility, Male/genetics , Male , Male Urogenital Diseases/complications , Male Urogenital Diseases/pathology , Mutation , Mutation Rate , Phenotype , Sweat/chemistry , Vas Deferens/abnormalities , Vas Deferens/pathology
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