Sudden cardiac death in Fabry cardiomyopathy may be related to bradycardia. The authors have no funding, financial relationships, or conflicts of interest to disclose.”
“Background: Selleckchem Givinostat The term ‘inequities’ refers to avoidable differences rooted in injustice. This review examined whether or not, and how, quantitative studies identifying inequalities

in risk factors and health service utilization for asthma explicitly addressed underlying inequities. Asthma was chosen because recent decades have seen strong increases in asthma prevalence in many international settings, and inequalities in risk factors and related outcomes.

Methods: A review was conducted of studies that identified social inequalities in asthma-related outcomes or health service use JNJ-26481585 clinical trial in adult populations. Data were extracted on use of equity terms (objective evidence), and discussion of equity issues without using the exact terms (subjective evidence).

Results: Of the 219 unique articles retrieved, 21 were eligible for inclusion. None used the terms equity/inequity. While all but one article traced at least partial pathways to inequity, only 52% proposed any intervention and 55% of these interventions focused exclusively on the

more proximal, clinical level.

Conclusions: Without more in-depth and systematic examination of inequities underlying asthma prevalence, quantitative studies may fail to provide the evidence required to inform equity-oriented interventions to address underlying circumstances restricting opportunities for health.”
“Phosphomannomutase 2 deficiency (PMM2-CDG) patients may present as mild phenotypes, with the cerebellum frequently involved. In those cases, false-negative results in screening may occur when applying conventional biochemical procedures. Our aim was to report two patients with a diagnosis of PMM2-CDG presenting with mild clinical phenotype. Patient 1-at 9 months of age, she presented with just

psychomotor delay, tremor, hypotonia, and slight lipodystrophy. Patient 2-she presented at 8 months of age with psychomotor delay, hand stereotypes, hypotonia, convergent bilateral strabismus, and tremor but no lipodystrophy. Routine biochemical parameters including blood count, clotting factors, proteins, and thyroid hormone were normal in both cases. Cranial selleck chemicals llc MRI evidenced mild cerebellar atrophy with moderate vermis hypoplasia. In case 1, sialotransferrin pattern showed very slightly increased disialotransferrin with no asialotransferrin, and in case 2, the transferrin pattern was impaired in the first study but nearly normal in the second. Nevertheless, in all the samples, quantification of the patterns obtained by capillary zone electrophoresis analysis gave results out of the control range. High residual PMM2 activity was observed in both cases and the genetic analysis showed that patient 1 was heterozygous for c.722G > C (p.C241S) and c.368G > A (p.R123Q) mutations, and patient 2 showed the c.722G > C and the c.470T > C (p.