Sunday 10 April 2016

NEJM Week of 24th March 2016 (#35)

Professor Brian Andrews NEJM Recommendations for Medical Students and Tutors
Week of 24th March 2016 (#35)
University of Notre Dame Australia (Fremantle Campus)



Occasional Editorial Comment

None



Must Read Articles


CLINICAL PRACTICE

Chronic Stable Angina

Management of angina includes lifestyle changes and pharmacologic treatment to reduce cardiovascular risks, antianginal therapies (beta-blockers, long-acting nitrates, calcium-channel blockers, and — recently in the United States — ranolazine), and revascularization.

This is an excellent Clinical Practice article outlining the management of a patient with chronic stable angina. Current therapies are well outlined together with the relevant updated literature. Of interest are the emerging therapies for angina, such as ranolazine and less frequently used ivabradine which students are being exposed to in some Perth hospitals. Also of note is the future use of allopurinol (recommended in the European guidelines) which decreases myocardial oxygen demand and improves endothelial function, as well as limiting urate crystal deposition.

Recommended learning: Epidemiology of coronary artery disease, pathology, clinical presentations and management. Review MED300 case on Acute Coronary Syndrome.



Articles Recommended for Medical Students

Perspective

Lead Contamination in Flint — An Abject Failure to Protect Public Health

The recent episode in Flint, Michigan, has brought the issue of lead in water into the public eye. But the dangers of lead exposure have been recognized for millennia, and we have the knowledge required to redress this social crime — if only we had the political will.

Poisoning of the water supply with lead in Flint Michigan is a tragic, ongoing event that should never have occurred. The genesis of this illegal act followed the election of a Republican Governor of Michigan who privatized local elected councils and replaced them with his management cronies in order to ostensibly save costs at the local city level. Because of privatization and greedy, inexperienced administrators, the state is now bankrupt. Diversion of the clean water supply from Lake Huron to the Flint River, to which was added ferric chloride to reduce formation of trihalomethane contaminants, resulted in water that was 19 times more corrosive than the original water. The acidic water dissolved lead from the pipes in homes resulting in lead poisoning of the population, particularly of the fetuses and their developing brains and children who drink the water. The population of Flint is poor, disenfranchised and predominantly African-American. What was criminal, and particularly distressing about this event, was the knowledge of this contamination by local government, and undoubtedly the governor, 18 months before it became public. Thanks to a stubborn, caring local pediatrician-public health official treating children with lead poisoning, this event was made public.


IMAGES IN CLINICAL MEDICINE

Diffuse Melanosis Cutis

A 76-year-old man was admitted to the hospital because of increasing generalized weakness. Several weeks earlier, a progressive gray–blue discoloration of the skin had developed. Because of the pronounced change in skin color, this white patient was no longer recognizable on his identity card.

The interesting aspect of this rare manifestation of metastatic melanoma, which heralds a poor prognosis, is the mechanism of the skin pigmentation. This is not due to malignant cells within the dermis, but rather the accumulation of melanin and melanosomes, derived from lysed melanoma cells elsewhere. This pigment then accumulates within dermal mononuclear phagocytic cells. Do macrophages in the spleen and liver also accumulate melanin and melanosomes or is this a particular skin tropism?

Recommended learning: Review the types and causes of diffuse skin pigmentation


EDITORIAL

The Genetics of Dyslipidemia — When Less Is More

The review summarizes the results of the two papers in the current issue of the Journal (http://www.nejm.org/doi/full/10.1056/NEJMoa1510926; http://www.nejm.org/doi/full/10.1056/NEJMoa1507652) which examine the effects of either loss-of function or gain-of-function mutations in the angiopoietin-like 4 (ANGPTL4) gene on levels of triglycerides (TGs) and HDL in humans and animals.

The protein ANGPTL4 inhibits lipoprotein lipase (LPL) whose function it is to break down plasma triglycerides into glycerol and free fatty acids which are then metabolized by cells (see Figure 2, in http://www.nejm.org/doi/full/10.1056/NEJMoa1507652 p1141). When there was a loss-of-function mutation found in the ANGPTL4 gene, this resulted in non-functioning ANGPTL4.  This resulted in excessive LPL activity and reduced plasma TGs, elevated HDL levels and reduced clinical coronary artery disease (CAD). Both studies involved samples from large cohorts of patients with both CAD and controls (US study and a multinational study) and involved extensive genetic studies. In the study by Dewey et al., mice and monkeys were also treated with an inhibiting monoclonal antibody against ANGPTL4 which resulted in reduced TGs and elevated HDL levels.
These studies provide further evidence that elevated triglycerides play a role in the pathogenesis of atherosclerosis. Further exploration of this pathway may provide a possible therapeutic window into the future.

A word of caution! A recent presentation at the annual meeting of the American College of Cardiology gives us pause to reflect and reminds us that we have a long way to go before we have clinically available more effective LDL lowering agents than the currently available statins and the recently available monoclonal antibody against PCSK9 (http://www.nejm.org/doi/full/10.1056/NEJMoa1105803 ). Evacetrapid, a CETP inhibitor marketed by Eli Lilly and tested in 12,000 patients, reduced LDL levels by 37% and elevated HDL levels by 130% but unexpectedly had no effect on CV outcomes. This drug was also associated with an increase in hypertension. The study was terminated prematurely.

Recommended learning: Review the common types of hyperlipidaemia associated with elevated plasma LDL and VLDL levels.


EDITORIAL

Parenteral Nutrition in Critically Ill Children

ORIGINAL ARTICLE

Early versus Late Parenteral Nutrition in Critically Ill Children


In this multicenter randomized, controlled trial, withholding parenteral nutrition from critically ill children in the pediatric intensive care unit for 1 week was clinically superior to providing early parenteral nutrition. Fluid loading was provided in both groups.

This is an important study which addresses the question as to when (day 1 or day 8 after admission) parenteral nutrition should be administered to critically ill ICU children who were receiving insufficient enteral nutrition (in this three centre study, adequate enteral nutrition was defined as more than 80% of the nutrient target). The majority of the children were not malnourished at onset and all had functional GI tracts.
The results indicated that although mortality rates were similar in both groups, those children who received the later parenteral nutrition beginning on day 8 had 7.8% fewer new infections, were discharged 2.7 days earlier from the ICU, had shorter duration on mechanical ventilation, had shorter hospital stays and were less likely to receive real-replacement therapy. Any design problems associated with the study are discussed in the Review.  

Overall this is a landmark study that will define the standard of care for the timing of parenteral nutrition in critically ill, non-malnourished children receiving inadequate enteral nutrition who are admitted to the ICU.



Important Articles Related to Mechanisms of Disease and Translational Research

None



Other articles which should be of interest to medical students


Perspective

Mitochondrial Replacement Techniques — Implications for the Clinical Community

An Institute of Medicine committee concluded that it's ethical to pursue clinical studies of mitochondrial replacement techniques, under certain conditions, but that critical safety and efficacy questions remain before regulatory approval or clinical use can occur.

The Perspective introduces the fascinating concept of transferring nuclear DNA from the oocyte (maternal spindle transfer) or the fertilized egg (pronuclear transfer) of a patient with mutated mitochondrial DNA (mtDNA) into a recipient oocyte or fertilized egg containing non-mutated mtDNA (methods are well illustrated in the accompanying Figure). Both methods involve IVF. Potential ethical problems associated with these techniques are discussed in detail. The Institute of Medicine has given approval for exploration of this area to treat mothers who harbour mutated mtDNA in their oocytes.  This technique cannot be used to treat patients with mitochondrial disease, only the maternal carrier of the mutation.  It is estimated that with either the spindle or pronucleus transfer that up to 2% of mtDNA may be transferred.  Some of this mtDNA may contain mutated mtDNA. However, considering the concept of heteroplasmy of mtDNA, it is predicted that there will be insufficient mutated mtDNA in the recipient host to result in clinical disease (the concept of “heteroplasmy shift therapy”).

Recommended learning: This excellent Perspective provides the student and teacher a chance to review mitochondrial DNA biology and the uncommon diseases associated with mutations or deletion of mtDNA.

ORIGINAL ARTICLE

A Multicenter Observational Study of Incretin-based Drugs and Heart Failure

In this analysis of data from several large cohorts of patients with diabetes, antidiabetic incretin-based drugs were not associated with an increased risk of hospitalization for heart failure, as compared with commonly used combinations of oral antidiabetic drugs.

An interesting aspect of this multicentre, retrospective, nested case-control, Canadian study was that most of the data was mined from US and UK databases.  The study included 1,499,650 patients in the study cohort (Figure 1). Of the patients without a history of heart failure, 74% of the data was from the US and 9% from the UK (Table 1).  Of those with heart failure, 58% of the data was from the US and 4% from UK databases.
The study has well demonstrated that in a selected group of diabetic patients taking only oral hypoglycaemic agents, that incretin-based drugs, including dipeptidyl peptidase 4 (DPP-4) and glucagon-like peptide 1 (GLP-1) analogues, did not result in an increased admission rate for heart failure. This applied equally to patients with and without a pre-existing diagnosis of heart failure. Patients exhibiting heart failure had a significantly higher frequency of coronary artery disease, previous coronary revascularization, stroke, myocardial infarction, CKD, and COPD.

Recommended learning: Review the groups of oral hypoglycaemic drugs used to treat diabetes mellitus.

CASE RECORDS OF THE MASSACHUSETTS GENERAL HOSPITAL

Case 9-2016 — A 29-Year-Old Man with Dyspnea and Chest Pain

A 29-year-old man presented with severe dyspnea and chest pain on the right side. Computed tomographic angiography revealed a filling defect in the main and right pulmonary arteries that was consistent with pulmonary embolism. Diagnostic procedures were performed.

This is an interesting CPC involving a rare presentation of a common tumour.  It also reviews the possible causes of pulmonary embolic disease in a 29-year-old male.
The important lesson is to not to forget the commonest non-lymphomatous solid tumour in a male of this age.

Recommended learning: Review the pathology, clinical presentation, investigations and management of germ cell and non-germ cell testicular tumours.