Publications by authors named "John L Gibbs"

Objective: Determine maternity hospital and lesion-specific prenatal detection rates of major congenital heart disease (mCHD) for hospitals referring prenatally and postnatally to one Congenital Cardiac Centre, and assess interhospital relative performance (relative risk, RR).

Methods: We manually linked maternity data (3 hospitals prospectively and another 16 retrospectively) with admissions, fetal diagnostic and surgical cardiac data from one Congenital Cardiac Centre. This Centre submits verified information to National Institute for Cardiovascular Outcomes Research (NICOR-Congenital), which publishes aggregate antenatal diagnosis data from infant surgical procedures.

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Objective: To describe the technical aspects and outcome of duct occlusion in adults over a 12-year period.

Methods: A single center review of all transcatheter duct closures performed between 2000 and 2012.

Results: Of 518 transcatheter duct closures performed, 31 patients were over the age of 16 at the time of procedure (6%).

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Objective: To evaluate the safety and efficacy of transcatheter occlusion of the arterial duct without femoral arterial catheterization.

Background: Patent arterial ducts have been closed percutaneously since the 1960s. It remains standard practice to use arterial access for aortography before, during, and after implantation of the device.

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Dilated cardiomyopathy, hypertrophic cardiomyopathy, and cardiac rhythm disturbances are important features of certain neuromuscular disorders in children, adolescents, and young adults. This article summarizes the cardiac features seen in patients with Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy, Friedreich's ataxia, and Emery-Dreifuss muscular dystrophy. The optimal management of these cardiac features remains contentious, but increasingly these patients are referred for routine cardiological assessment in the absence of symptoms.

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Objectives: To assess the volume and range of diagnosis in new patients referred to paediatric cardiac outpatient clinics.

Methods: Data was collected prospectively, using a proforma completed at all outpatient clinics over a period of three months.

Results: There were 526 new referrals, representing an increase of almost one-fifth compared to 5 years ago.

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Objectives: To analyse simple national statistics and survival data collected in the central cardiac audit database after treatment for congenital heart disease and to provide long term comparative statistics for each contributing centre.

Design: Prospective, longitudinal, observational, national cohort survival study.

Setting: UK central cardiac audit database.

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Article Synopsis
  • Ellis-van Creveld syndrome (EvC) is a genetic condition that affects bone development and is inherited in an autosomal recessive manner.
  • Previous studies identified mutations in the EVC gene as a cause of EvC, but new findings reveal that mutations in a second gene, EVC2, can also lead to this syndrome.
  • Both EVC and EVC2 are located next to each other and share a conserved configuration across different species, and individuals with mutations in either gene exhibit similar physical features associated with EvC.
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