Clinical episodes and abnormal laboratory tests compatible with a diagnosis of malignant hyperthermia have been observed in patients with a diversity of syndromes, enzymopathies, and coexisting disorders thereby raising the likelihood of causal associations and heightened perioperative risk in others carrying a shared diagnosis. In the present review, we survey available published series, case reports, and the results of contracture testing in patients identified by others to be potentially predisposed to malignant hyperthermia. For most conditions, evidence for a causal relationship with malignant hyperthermia susceptibility is weak. The review concludes with suggestions for clinical management when evidence for or against an association is uncertain.

BACKGROUND:Novel preventive care opportunities, such as in hospitalized patients, may merit further investigation in an Accountable Care Organization (ACO) model. As 40% of patients with diabetes are undiagnosed, diabetes screening is an urgent public health need. Screening fasting preoperative patients may present an effective means to identify patients who might otherwise remain undiagnosed.OBJECTIVE:To pilot an inpatient preventive care strategy for diabetes screening that would ascertain prevalence of unrecognized inpatient diabetes (DM) and impaired fasting glucose (IFG), determine reproducibility of preoperative fasting blood glucose (FBG), and establish feasibility of inpatient preventive screening.DESIGN:Prospective observational study.SETTING:Large Midwestern academic medical center.PATIENTS:Two hundred seventy‐five elective orthopedic patients with a preoperative visit between December 1, 2007 and November 30, 2008. Most patients (96.6%) had seen their primary care provider (PCP) within 12 months, and 100% were insured.MEASUREMENTS:Medical history was recorded, and hemoglobin A1C (Hgb A1C) and FBG were drawn immediately prior to surgery. Patients with preoperative FBG ≥100 mg/dL had FBG drawn 6–8 weeks postoperatively.RESULTS:Twenty‐four percent (67/275) of patients had previously unrecognized DM or IFG by virtue of 2 abnormal values. Sixty‐four percent of patients with FBG ≥100 mg/dL preoperatively remained elevated at ambulatory follow‐up. No patients with new DM or IFG had point‐of‐care glucose checks ordered or had dysglycemia mentioned on discharge summary.CONCLUSIONS:Inpatient undiagnosed DM and IFG is common, even in insured, elective surgery patients with recent primary care visits. Preoperative FBG can be used to screen, but results need to be conveyed to PCPs. Journal of Hospital Medicine 2012; © 2012 Society of Hospital Medicine

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Background: Orphan status is usually a risk factor for many diseases and results in social exclusion and worse outcomes than children with parents.

2016-11-15T19:40:59