Making white spots disappear! Do minimally invasive treatments improve incisor opacities in children with molar incisor hypomineralisation?

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Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation. We ascertained eight families with HS, and - using a whole exome sequencing approach - identified biallelic mutations in PEX1 or PEX6 in six of them. Loss of function mutations in both genes are known causes of a spectrum of autosomal recessive peroxisome biogenesis disorders (PBDs), including Zellweger syndrome. PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial, and liver abnormalities. We demonstrate that each HS family has at least one hypomorphic allele that results in extremely mild peroxisomal dysfunction. Although individuals with HS share some subtle clinical features found in PBDs, the overlap is minimal and the diagnosis was not suggested by routine blood and skin fibroblast analyses used to detect PBDs. In conclusion, our findings define Heimler syndrome as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6

Using care bundles to reduce in-hospital mortality: quantitative survey

PROBLEM: To reduce hospital inpatient mortality and thus increase public confidence in the quality of patient care in an urban acute hospital trust after adverse media coverage. DESIGN: Eight care bundles of treatments known to be effective in reducing in-hospital mortality were used in the intervention year; adjusted mortality (from hospital episode statistics) was compared to the preceding year for the 13 diagnoses targeted by the intervention care bundles, 43 non-targeted diagnoses, and overall mortality for the 56 hospital standardised mortality ratio (HSMR) diagnoses covering 80% of hospital deaths. SETTING: Acute hospital trust in north west London. STRATEGIES FOR CHANGE: Use of clinical guidelines in care bundles in eight targeted clinical areas. INTERVENTIONS: Use of care bundles in treatment areas for the diagnoses leading to most deaths in the trust in 2006-7. KEY MEASURES FOR IMPROVEMENT: Change in adjusted mortality in targeted and non-targeted diagnostic groups; hospital standardised mortality ratio (HSMR) during the intervention year compared with the preceding year. Effect of the change The standardised mortality ratio (SMR) of the targeted diagnoses and the HSMR both showed significant reductions, and the non-targeted diagnoses showed a slight reduction. Cumulative sum charts showed significant reductions of SMRs in 11 of the 13 diagnoses targeted in the year of the quality improvements, compared with the preceding year The HSMR of the trust fell from 89.6 in 2006-7 to 71.1 in 2007-8 to become the lowest among acute trusts in England. 255 fewer deaths occurred in the trust (174 of these in the targeted diagnoses) in 2007-8 for the HSMR diagnoses than if the 2006-7 HSMR had been applicable. From 2006-7 to 2007-8 there was a 5.7% increase in admissions, 7.9% increase in expected deaths, and 14.5% decrease in actual deaths. LESSONS LEARNT: Implementing care bundles can lead to reductions in death rates in the clinical diagnostic areas targeted and in the overall hospital mortality rate