Lack of impact of umbilical cord blood unit processing techniques on clinical outcomes in adult double cord blood transplant recipients.

Background Aims: Despite widespread use of umbilical cord blood (UCB) transplantation and distinct practice preferences displayed by individual UCB banks and transplant centers, little information exists on how processing variations affect patient outcomes.

Methods: We reviewed 133 adult double UCB transplants performed at a single center: 98 after reduced-intensity and 35 after myeloablative conditioning. Processing associated with contributing UCB banks and units was surveyed to identify differences in practice.

International Society for Cell Therapy Facility Sanitization Survey Laboratory Practices Committee Report.

Background Aims: Quality cell manufacturing processes require a clean laboratory environment.

Methods: This report was aimed at describing current cleaning and sanitization practices reported by facilities that manufacture many types of cellular therapy products for clinical use. It is our hope that this report may provide the groundwork for guidance recommendations directed at developing consensus standards for cleaning and sanitization practices across the globe.

Systolic blood pressure control after participation in a hypertension intervention study.

Objective: To evaluate whether systolic blood pressure (SBP) control is maintained following participation in a multimodal hypertension intervention.

Study Design: This was a retrospective cohort of patients completing the Improving Blood Pressure in Colorado study, a randomized trial comparing a multimodal intervention with usual care for patients who had uncontrolled hypertension. Chart review assessed the first SBP measurement recorded as part of routine care after the study ended.

A multimodal blood pressure control intervention in 3 healthcare systems.

Objective: To determine if a multimodal intervention composed of patient education, home blood pressure (BP) monitoring, BP measurement reporting to an interactive voice response (IVR) phone system, and clinical pharmacist follow-up improves BP control compared with usual care.

Study Design: Prospective study with patient enrollment, medication consultation and adjustment, remote BP monitoring, and follow-up at 6 months.

Methods: This randomized controlled trial was conducted at 3 healthcare systems in Denver, Colorado, including a large health maintenance organization, a Veterans Affairs medical center, and a county hospital.

"Leaning" the process of venous thromboembolism prophylaxis.

Background: Lean principles have been used at Denver Health Medical Center since 2005 to streamline nonclinical processes. Despite allocation of significant resources, particularly the expense of low molecular weight heparin (LMWH), to prophylaxis of venous thromboembolism (VTE), the incidence of postoperative VTE was significantly worse than national benchmarks. VTE risk factors were not consistently assessed, and the prescribing of prophylaxis varied widely.

Antimuscarinic syndrome after propofol administration in the emergency department.

Antimuscarinic syndrome (AS), a rare but serious adverse event associated with propofol should be included in the differential diagnosis of patients who develop agitation after its administration. We report a case of antimuscarinic syndrome that developed in an emergency department patient immediately after receiving propofol for the reduction of an elbow dislocation. The patient had received therapeutic doses of meperidine and promethazie several hours before the administration of propofol, and had an estimated serum ethanol level of 64 mg/dL about 1 h before sedation.

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport. We describe mutation analysis on samples from 143 unrelated affected NPC patients using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively.

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected.

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

This is the first description of slowly progressive Niemann-Pick disease type C (NPC) without the typical lysosomal storage in bone marrow and viscera in two descendants of a group of 17th century French-Canadians. The index patient was a married 43-year-old woman with onset of dementia in her thirties, later followed by the development of ataxia and athetoid movements. Her autopsy disclosed frontal lobe atrophy, neurolysosomal storage with oligolamellar inclusion and tau-positive neurofibrillary tangles.

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Infantile- and juvenile-onset spinal cerebellar ataxia (SCA) is associated with expansion of 130 to more than 200 CAG-repeats in the SCA2 and SCA7 genes. Routine clinical assays for SCA2 and SCA7, which use polymerase chain reaction (PCR) and denaturing PAGE (polyacrylamide gel electrophoresis), will not reliably detect such large expansions. An assay based on separation of PCR products on an agarose gel, blotting, and hybridization with a (CAG)6 oligonucleotide probe was used to test DNA from individuals more than 10 years of age who had a possible diagnosis of SCA.