Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments.

Do Medicare Advantage Plans Respond to Payment Changes? A Look at the Data from 2009 to 2014.

Issue: Medicare Advantage (MA) enrollment has grown significantly since 2009, despite legislation that reduced what Medicare pays these plans to provide care to enrollees. MA payments, on average, now approach parity with costs in traditional Medicare.

Goal: Examine changes in per enrollee costs between 2009 and 2014 to better understand how MA plans have continued to thrive even as payments decreased.

Do Medicare Advantage Plans Minimize Costs? Investigating the Relationship Between Benchmarks, Costs, and Rebates.

Issue: Medicare Advantage (MA), the program that allows people to receive their Medicare benefits through private health plans, uses a benchmark-and-bidding system to induce plans to provide benefits at lower costs. However, prior research suggests medical costs, profits, and other plan costs are not as low under this system as they might otherwise be.

Goal: To examine how well the current system encourages MA plans to bid their lowest cost by examining the relationship between costs and bonuses (rebates) and the benchmarks Medicare uses in determining plan payments.

The Evolution of Private Plans in Medicare.

Issue: Since the 1980s, private plans have played an increasingly important role in the Medicare program. While initially created with the goals of reducing costs, improving choice, and enhancing quality, risk-based plans--now known as Medicare Advantage plans--have undergone significant policy changes since their inception; these changes have not always aligned with the original policy objectives.

Goal: To examine major policy changes to Medicare risk plans and the effects of these policies on plan participation, enrollment, average premiums and cost-sharing, total costs to Medicare, and quality of care.

First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.

Laparoscopy in the second and third trimesters of pregnancy for abdominal surgical emergencies.

Objective: To assess complications and outcomes of pregnancies following laparoscopic abdominal surgery during the second and third trimesters of pregnancy.

Material And Methods: Retrospective single-center study of 23 cases of laparoscopic surgery in the second or third trimesters of pregnancy between January 2005 and May 2016.

Results: The laparoscopies were performed between 15 and 33 weeks of gestation, a mean of 23 weeks+2 days, with 6 cases in the 3rd trimester.

Exposure to TiO2 nanoparticles increases Staphylococcus aureus infection of HeLa cells.

Background: Titanium dioxide (TiO2) is one of the most common nanoparticles found in industry ranging from food additives to energy generation. Approximately four million tons of TiO2 particles are produced worldwide each year with approximately 3000 tons being produced in nanoparticulate form, hence exposure to these particles is almost certain.

Results: Even though TiO2 is also used as an anti-bacterial agent in combination with UV, we have found that, in the absence of UV, exposure of HeLa cells to TiO2 nanoparticles significantly increased their risk of bacterial invasion.

Does Medicare Advantage Cost Less Than Traditional Medicare?

The costs of providing benefits to enrollees in private Medicare Advantage (MA) plans are slightly less, on average, than what traditional Medicare spends per beneficiary in the same county. However, MA plans that are able to keep their costs comparatively low are concen­trated in a fairly small number of U.S.

Competition Among Medicare's Private Health Plans: Does It Really Exist?

Competition among private Medicare Advantage (MA) plans is seen by some as leading to lower premiums and expanded benefits. But how much competition exists in MA markets? Using a standard measure of market competition, our analysis finds that 97 percent of markets in U.S.

Medicare Payment Reform: Aligning Incentives for Better Care.

The Affordable Care Act (ACA) has provided the Medicare program with an array of tools to improve the quality of care that beneficiaries receive and to increase the efficiency with which that care is provided. Notably, the ACA has created the Center for Medicare and Medicaid Innovation, which is developing and testing promising new models to improve the quality of care provided to Medicare beneficiaries while reducing spending. These new models are part of an effort by the U.

The Affordable Care Act's payment and delivery system reforms: a progress report at five years.

In addition to its expansion and reform of health insurance coverage, the Affordable Care Act (ACA) contains numerous provisions intended to resolve underlying problems in how health care is delivered and paid for in the United States. These provisions focus on three broad areas: testing new delivery models and spreading successful ones, encouraging the shift toward payment based on the value of care provided, and developing resources for systemwide improvement. This brief describes these reforms and, where possible, documents their initial impact at the ACA's five-year mark.

Variations in county-level costs between traditional medicare and medicare advantage have implications for premium support.

Concern about the future growth of Medicare spending has led some in Congress and elsewhere to promote converting Medicare to a "premium support" system. Under premium support, Medicare would provide a "defined contribution" to each Medicare beneficiary to purchase either a Medicare Advantage (MA)-type private health plan or the traditional Medicare public plan. To better understand the implications of such a shift, we compared the average costs per beneficiary of providing Medicare benefits at the county level for traditional Medicare and four types of MA plans.

Analysis of early accountable care organizations defines patient, structural, cost, and quality-of-care characteristics.

Accountable care organizations (ACOs) have attracted interest from many policy makers and clinical leaders because of their potential to improve the quality of care and reduce costs. Federal ACO programs for Medicare beneficiaries are now up and running, but little information is available about the baseline characteristics of early entrants. In this descriptive study we present data on the structural and market characteristics of these early ACOs and compare ACOs' patient populations, costs, and quality with those of their non-ACO counterparts at baseline.

Medicare essential: an option to promote better care and curb spending growth.

Medicare's core benefit design reflects private insurance as of 1965, with separate coverage for hospital and physician services (and now prescription drugs) and no protection against catastrophic costs. Modernizing Medicare's benefit design to offer comprehensive benefits, financial protection, and incentives to choose high-value care could improve coverage and lower beneficiary costs. We describe a new option we call Medicare Essential, which would combine Medicare's hospital, physician, and prescription drug coverage into an integrated benefit with an annual limit on out-of-pocket expenses for covered benefits.

Paying for value: replacing Medicare's sustainable growth rate formula with incentives to improve care.

This brief sets forth a set of policy options to improve the way health care providers are paid by Medicare. The authors suggest repealing Medicare's sustain­able growth rate (SGR) formula for physician fees and replacing it with a pay-for-value approach that would: 1) increase payments over time only for physicians and other provid­ers who participate in innovative care arrangements; 2) strengthen primary care and care teams; and 3) implement bundled payments for hospital-related care. These reforms would be adopted by Medicare, Medicaid, and private plans in the new insurance marketplaces, with the goal of accelerating innovation in care delivery throughout the health system.

The impact of health reform on the Medicare Advantage program: realigning payment with performance.

The Affordable Care Act enacts a new payment system for private health plans available to Medicare beneficiaries through the Medicare Advantage (MA) program. The system, which is being phased in through 2017, aims to (1) reduce the excess pay­ments received by private plans relative to per capita spending in traditional Medicare, and (2) reward plans that earn high performance ratings. Using 2009 data, this issue brief pres­ents analysis of the distributional impact on MA plan payments of these new policies as if they had been fully implemented in that year.

Identifying, monitoring, and assessing promising innovations: using evaluation to support rapid-cycle change.

The Center for Medicare and Medicaid Innovation (Innovation Center) was created by the Affordable Care Act to identify, develop, assess, support, and spread new approaches to health care financing and delivery that can help improve quality and lower costs. Although the Innovation Center has been given unprecedented authority to take action, it is being asked to produce definitive results in an extremely short time frame. One particularly difficult task is developing methodological approaches that adhere to a condensed time frame, while maintaining the rigor required to support the extensive policy changes needed.

Intervention to decrease glyburide use in elderly patients with renal insufficiency.

Objectives: The objectives of this study were to describe changes in glyburide prescribing in cohorts that were and were not targeted by a risk reduction project, assess factors associated with glyburide discontinuation, and evaluate changes in glycated hemoglobin (ie, HbA(1c)) levels and rates of serious hypoglycemia.

Methods: This historical cohort study included a targeted cohort of 4368 outpatient veterans aged ≥65 years with active prescriptions for glyburide between April 1, 2007 and June 30, 2007 and serum creatinine (SCr) ≥2 mg/dL and a nontargeted cohort of 1886 outpatients meeting these same criteria between July 1, 2007 and September 3, 2007. The intervention in the risk reduction project took place on September 4, 2007 and entailed giving regional pharmacy leaders information about the increased risk of hypoglycemia with glyburide and the list of targeted patients for follow up with providers.