Our purpose was to assess effects of steroid use alone or in combination with angiotensin converting enzyme inhibitors (ACEI) or angiotension receptor blocker (ARB) on cardiovascular magnetic resonance (CMR) derived circumferential strain (epsilon(cc)).

Methods: We used CMR to assess effects of corticosteroids alone (Group A) or in combination with

ACEI or ARB (Group B) on heart rate (HR), left ventricular ejection fraction (LVEF), mass (LVM), end diastolic volume (LVEDV) and circumferential strain (epsilon(cc)) in a cohort of 171 DMD patients >5 years of age. Treatment decisions were made independently by physicians at both our institution and referral centers and not based on CMR results.

Results: Patients in Group A (114 studies)

were younger than those in Group B (92 studies)(10 +/- 2.4 vs. 12.4 +/- 3.2 years, p < 0.0001), but HR, LVEF, LVEDV and LVM were not different. Although epsilon(cc) magnitude was lower in Group FK228 datasheet B than Group A (-13.8 +/- 1.9 vs. -12.8 +/- 2.0, p = 0.0004), age correction using covariance analysis eliminated this effect. In a subset of patients who underwent serial CMR exams with an inter-study time of similar to 15 months, epsilon(cc) worsened regardless of treatment group.

Conclusions: These results support the need for prospective clinical trials to identify more effective treatment regimens for DMD associated cardiac disease.”
“Objective The congenital myasthenic syndromes (CMS) are a group of selleckchem genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Recently, we noted a subgroup of children with CMS in whom congenital stridor and bilateral vocal cord palsy predated other symptoms. All had mutations in the DOK7 gene. The purpose of this

study was to review our 10058-F4 population of DOK7 CMS patients with congenital stridor and assess whether there were other phenotypic features which might raise suspicion of a diagnosis of CMS in the neonatal period, in the absence of limb weakness and ptosis and prompt earlier referral for neurophysiological investigation, genetic diagnosis and appropriate treatment.

Methods A retrospective case review of 11 DOK7 CMS patients at a tertiary referral centre.

Results Six patients were identified with DOK7 mutations and congenital stridor, four requiring intubation soon after birth Four patients had a diagnosis of bilateral vocal cord palsy and three required tracheostomy, successfully decannulated in one after 3 years. All six patients had difficulty with feeding, with weak suck and swallow necessitating nasogastric feeding in five, two of whom required gastrostomy. Despite all six children having had neonatal symptoms, the mean age at CMS diagnosis was 5 years and 9 months.