G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a.

Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase mouse model (L-G6PC) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides.

Prevalence, perceptions, and consequences of substance use in medical students.

Background: Research regarding the health and wellness of medical students has led to ongoing concerns regarding patterns of alcohol and drug use that take place during medical education. Such research, however, is typically limited to single-institution studies or has been conducted over 25 years ago.

Objective: The objective of the investigation was to assess the prevalence and consequences of medical student alcohol and drug use and students' perceptions of their medical school's substance-use policies.

Clinical associations of total kidney volume: the Framingham Heart Study.

Background: Total kidney volume (TKV) is an imaging biomarker that may have diagnostic and prognostic utility. The relationships between kidney volume, renal function and cardiovascular disease (CVD) have not been characterized in a large community-dwelling population. This information is needed to advance the clinical application of TKV.

Treatment of life-threatening hyperkalemia with peritoneal dialysis in the ED.

Severe hyperkalemia (serum potassium N 7.0 mmol/L) is an uncommon electrolyte abnormality in patients undergoing maintenance peritoneal dialysis (PD). Hemodialysis (HD) has been suggested as the definitive therapy for severe hyperkalemia in this population,although there is limited data regarding renal replacement options.

Renal artery calcium, cardiovascular risk factors, and indexes of renal function.

Vascular calcium is well studied in the coronary and peripheral arteries, although there are limited data focusing on calcium deposits specific to renal arteries. The associations among renal artery calcium (RAC), cardiovascular disease risk factors, and indexes of renal function are unknown. We examined 2,699 Framingham Heart Study participants who were part of a multidetector computed tomography substudy from 2008 to 2011.

Strongyloides stercoralis transmission by kidney transplantation in two recipients from a common donor.

Strongyloides stercoralis hyperinfection in an immunocompromised host has a high mortality rate but may initially present with nonspecific pulmonary and gastrointestinal symptoms. Donor-derived S. stercoralis by kidney transplantation is an uncommon diagnosis and difficult to prove.

Quantitative capillary zone electrophoresis method for the precise determination of charge differences arising from the manufacture of heparan-N-sulfatase.

A rapid and reproducible high-resolution capillary zone electrophoresis (CZE) method capable of resolving the charge isoforms of intact heparan-N-sulfatase (HNS) has been developed to monitor the charge consistency across different batches of HNS. Separation was carried out using a bare fused silica capillary with a buffer system composed of 25 mM Tris, pH 8.0.

The Aligning Forces for Quality experience: lessons on getting consumers involved in health care improvements.

Aligning Forces for Quality is the Robert Wood Johnson Foundation's signature effort to improve the overall quality of health care in targeted communities, reduce racial and ethnic disparities in care, and provide models for national reform. Activities in each of the sixteen Aligning Forces for Quality alliance communities are guided by a multistakeholder alliance of consumers, providers, and payers. To achieve goals established at the national and local levels, the alliances integrate local consumers into governance and decision making, program design and implementation, and information dissemination efforts.

Early lessons from four 'aligning forces for quality' communities bolster the case for patient-centered care.

The practice of patient-centered care remains in its developmental stages-hampered, in part, by limited evidence of its effectiveness. In this article we first review available evidence on patient-centered care, such as the positive effects of engaging patients in quality improvement activities. We also point out the existence of a research gap that makes it difficult to quantify the effect of "culture change" in health care, and to attribute improvements specifically to patients' involvement.

Analysis & commentary. Measuring patient experience as a strategy for improving primary care.

Patients value the interpersonal aspects of their health care experiences. However, faced with multiple resource demands, primary care practices may question the value of collecting and acting upon survey data that measure patients' experiences of care. The Consumer Assessment of Healthcare Providers and Systems (CAHPS) suite of surveys and quality improvement tools supports the systematic collection of data on patient experience.

Temporal summaries: supporting temporal categorical searching, aggregation and comparison.

When analyzing thousands of event histories, analysts often want to see the events as an aggregate to detect insights and generate new hypotheses about the data. An analysis tool must emphasize both the prevalence and the temporal ordering of these events. Additionally, the analysis tool must also support flexible comparisons to allow analysts to gather visual evidence.

Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease.

Introduction: A number of metabolic conditions have been associated with Obstructive Sleep Apnea Syndrome (OSAS). Familial partial lipodystrophy type 2 (FPLD2), one of the few rare genetic disorders affecting total body fat redistribution, is one of those conditions.

Case Report: In this case report the authors detail OSAS associated with FPLD2 with atypical dermatological and systemic manifestations.

A mobile Meckel!

A technetium-99m pertechnetate Meckel scan is the standard diagnostic test to diagnose Meckel diverticulum. Although a negative scan does not exclude Meckel diverticulum, it should be kept in mind that the diagnosis can be missed on the basis of a single negative scan. Another important point is the typical position of this anatomical abnormality in the scan.

Searching electronic health records for temporal patterns in patient histories: a case study with microsoft amalga.

As electronic health records (EHR) become more widespread, they enable clinicians and researchers to pose complex queries that can benefit immediate patient care and deepen understanding of medical treatment and outcomes. However, current query tools make complex temporal queries difficult to pose, and physicians have to rely on computer professionals to specify the queries for them. This paper describes our efforts to develop a novel query tool implemented in a large operational system at the Washington Hospital Center (Microsoft Amalga, formerly known as Azyxxi).

Increased severity of alcoholic liver injury in female verses male rats: a microarray analysis.

Alcoholic liver disease (ALD) is an increasingly recognized condition that may progress to end-stage liver disease. In addition to alcohol consumption, genetic factors, dietary fatty acids, gender and viral infection potentiate the severity of alcoholic liver injury. In humans, significant gender differences in susceptibility to ALD are observed.

A necessary and sufficient determinant for protein-selective glycosylation in vivo.

A limited number of glycoproteins including luteinizing hormone and carbonic anhydrase-VI (CA6) bear N-linked oligosaccharides that are modified with beta1,4-linked N-acetylgalactosamine (GalNAc). The selective addition of GalNAc to these glycoproteins requires that the beta1,4-N-acetylgalactosaminyltransferase (betaGT) recognize both the oligosaccharide acceptor and a peptide recognition determinant on the substrate glycoprotein. We report here that two recently cloned betaGTs, betaGT3 and betaGT4, that are able to transfer GalNAc to GlcNAc in beta1,4-linkage display the necessary glycoprotein specificity in vivo.

Transcriptional networks in a rat model for nonalcoholic fatty liver disease: a microarray analysis.

Background: Nonalcoholic fatty liver disease (NAFLD) is a common hepatic condition that may progress to end-stage liver disease. High-fat diets in animals reproduce many of the features found in nonalcoholic steatohepatitis.

Objective: To understand how various dietary or genetic factors influence the development of fatty liver and consequently NAFLD, we performed microarray-based expression profiling of genes, induced by fish oil and dextrose diet, a putative mediator of alcohol-like effects on the liver of the female rat.

Wide-field Fizeau imaging telescope: experimental results.

A nine-aperture, wide-field Fizeau imaging telescope has been built at the Lockheed-Martin Advanced Technology Center. The telescope consists of nine, 125 mm diameter collector telescopes coherently phased and combined to form a diffraction-limited image with a resolution that is consistent with the 610 mm diameter of the telescope. The phased field of view of the array is 1 murad.

Wireless pH testing as an adjunct to unsedated transnasal esophagoscopy: the safety and efficacy of transnasal telemetry capsule placement.

Objectives: The introduction of 48-hour wireless pH testing offers clinicians a new alternative for the objective documentation of reflux. The success of transnasal wireless pH capsule placement has not been previously described. The purpose of this investigation was to describe our experience with transnasal wireless pH capsule placement.

The mannose/N-acetylgalactosamine-4-SO4 receptor displays greater specificity for multivalent than monovalent ligands.

Recognition of carbohydrates on glycosylated molecules typically requires multivalent interactions with receptors. Monovalent forms of terminal saccharides engaged by the receptor binding sites typically display weak affinities in the mm range and poor specificity. In contrast, multivalent forms of the same saccharides are bound with strong affinity (10(-7)-10(-9) m) and significantly greater specificity.

Molecular basis of lutropin recognition by the mannose/GalNAc-4-SO4 receptor.

The circulatory half-life of the glycoprotein hormone lutropin (LH) is precisely regulated by the mannose (Man)/GalNAc-4-SO(4) receptor expressed in hepatic endothelial cells. Rapid clearance from the circulation contributes to the episodic rise and fall of LH levels that is essential for maximal stimulation of the G protein-coupled LH receptor. We have defined two molecular forms of the Man/GalNAc-4-SO(4) receptor that differ in ligand specificity, cell and tissue expression, and function.