Wednesday, 12 October 2016

NEJM Week of 8th September 2016 (#59)

Professor Brian Andrews NEJM Recommendations for Medical Students and Tutors
Week of 8th September 2016 (#59)
University of Notre Dame Australia (Fremantle Campus)


Occasional Editorial Comment


I urge you to read the Weekly Review through the above blog link. It is better formatted and additionally allows the determination of the number of weekly readers.


Must Read Articles


None


Articles Recommended for Medical Students


Perspective

Scrub Typhus — Scientific Neglect, Ever-Widening Impact


Detection of scrub typhus, a vectorborne infectious disease, in Chile and Africa highlights the fact that we have heretofore paid too little attention to this systemic, life-threatening disease and have developed too little relevant expertise.


ORIGINAL ARTICLE

BRIEF REPORT

Endemic Scrub Typhus in South America


Scrub typhus, caused by Orientia tsutsugamushi, has been thought to be geographically restricted to the “tsutsugamushi triangle” in the Asia–Pacific region. In this report, a potential focus in southern Chile is identified.

I enjoy the word “tsutsugamushi” (from the Japanese tsutsuga "illness" and mushi "insect")  which to me has the same fascination as “dysdiadochokinesis” (from the Greek dys “bad” , diadocho “succeeding”, kinesis “movement,” a word which every medical student seems to be able to remember.

For any student interested in infectious disease, tropical medicine in particular, and climate change, scrub typhus biology is perhaps a career choice to explore.  Basic research is wanting and a significant discovery could produce a major benefit to humanity. Also funding is likely to be available in the future for an illness which is changing geographically due to global climate change.

The article describes the recent appearance of Orientia tsutsugamushi (previously classified as a rickettsia and still studied by rickettsiologists who are few and far between) in three patients on a small island (Chiloé Island) off the southern coast of Chile. How this organism reached this island is a matter of speculation. Did it arrive from mainland Chile where it has not been previously described, or was it carried by birds from the tsutsugamushi triangle? The article also provides excellent pictures of the initial necrotic bite site ulcer (eschar) (Figure 1).

This rickettsial bacterium is transmitted by the bites of larval mites (chiggers) which live on rodents. It occurs widely in rural settings in Asia (in the tsutsugamushi triangle with Australia at the southern tip of the triangle) and is a potential risk in tropical Northern Australia. It has also spread northward into China.

The following have been extracted from the Perspective and describe the disease clearly:

1.     Scrub typhus, a systemic, life-threatening disease with an enormous incidence in Asia and the islands of the Pacific and Indian Oceans, remains remarkably neglected.
2.     Infection with Orientia tsutsugamushi, the causal agent, classically begins with the appearance of an eschar at the site of mite feeding and enlargement of the draining lymph nodes, followed by fever, headache, myalgia, and gastrointestinal symptoms. In severe cases, the illness can progress to the development of interstitial pneumonia, acute respiratory distress syndrome, meningoencephalitis, acute kidney injury, or disseminated intravascular coagulation, causing death in 7% or more of patients unless they are treated sufficiently early in the course of illness with doxycycline, azithromycin, or somewhat less effectively, chloramphenicol.
3.     O. tsutsugamushi is an obligate intracellular bacterium that is maintained in nature transovarially in mites. It’s essential to understand that the mite (chigger) is both the vector and the reservoir. Rodents become infected with O. tsutsugamushi and maintain the infection for a prolonged period.
4.     Studies of febrile patients in Asia reveal that scrub typhus and murine typhus are often at least as prevalent as malaria, dengue, and other arboviruses. Previous estimates of 1 million cases of scrub typhus annually would most likely be revised upward by accurate incidence data on the current re-emergence in Asia.


ORIGINAL ARTICLE

CPAP for Prevention of Cardiovascular Events in Obstructive Sleep Apnea


In a randomized trial, over 2700 patients with obstructive sleep apnea and cardiovascular disease were assigned to CPAP plus usual care or to usual care alone. At a mean of 3.7 years, the rate of adverse cardiovascular events did not differ significantly between the groups.

EDITORIAL

Cardiovascular Events in Obstructive Sleep Apnea — Can CPAP Therapy SAVE Lives?


I have many problems with this article but particularly the conclusions. The study was conducted through the Institute for Sleep Health, Flinders University, and other institutions in Adelaide and South-East Asia.  Approximately 63% of the patients in the study were from South-East Asian centres. Employing 89 centres in seven countries makes standardization of therapy in the study extremely difficult.

This is a multinational, randomized (CPAP or usual care), parallel-group, with open-label trial with blinded end-point assessment.  The study attempts to ascertain the efficacy of CPAP in patients with established cardiovascular disease (secondary prevention study). The primary composite end point was death from cardiovascular causes, myocardial infarction, stroke, or hospitalization for unstable angina, heart failure, or transient ischemic attack. Secondary end points included other cardiovascular outcomes, health-related quality of life, snoring symptoms, daytime sleepiness, and mood.

The overall results indicated that CPAP did not prevent the primary end-points in patients with moderate-to-severe sleep apnoea and established cardiovascular disease over those patients treated with usual care.  Conversely, there was a marked improvement in secondary outcomes (Table 3). These included significant improvements in quality of life (daytime sleepiness, anxiety and depression, physical and mental improvement) which were not emphasised strongly enough in the results and discussion sections of the article.

The following problems with the study are:

1.     This is a secondary prevention study which was undertaken because the number of patients needed to complete a primary prevention study would have been too large.
2.     The authors appear to neglect the significant symptomatic improvement in the patients. They do not seriously consider improvement in quality of life a legitimate indication for CPAP in this patient group.  This causes me to wonder how many of the individuals writing the manuscript actually treat patients.
3.     The technical use of CPAP overall was very poor. The mean duration of CPAP adherence was only 3.3 hours per night, only half of the usual sleep time.  Thus CPAP was probably used only in the first half of the nightly sleep. It was noted in the Editorial that “in many of the trial patients, CPAP may not have been in use during rapid-eye-movement (REM) sleep, the sleep stage that predominates in the early morning hours. This is a concern because apneic or hypopneic events that occur during REM sleep are longer, with greater oxygen desaturation, than those that occur during non-REM sleep; moreover, events that occur during REM sleep have a significantly stronger association with hypertension.” It was further noted in a sub-group analysis using far fewer numbers (making it difficult to validly interpret many of the results) that there was an improvement in one primary outcome, particularly a reduction in the risk in cerebrovascular events (p=0.02). Thus, this study needs to be repeated in which CPAP adherence should include the early morning hours with probably 5-6 hours of CPAP use a minimum.
4.     It is possible that once the patient has established significant symptomatic cardiovascular pathology, CPAP may not improve the primary outcomes, but I seriously doubt this based on the study.
5.     The exclusion criteria should be carefully analysed, as patients with severe sleep apnoea were excluded. These patients may well have had better primary outcomes.
This article was probably published because of the time and effort spent by the investigators, the cost and the multinational nature of the study. Further, this was a difficult study to perform with an adequate number of patients, and as such the ideal study is unlikely to be undertaken in the near future.

Recommended learning:

1.     Review the causes, clinical manifestations and management of obstructive sleep apnoea in adults and children.
2.     Review the use of CPAP in clinical medicine.


CLINICAL PRACTICE

Acute Sinusitis in Adult


Acute bacterial sinusitis — purulent nasal discharge and nasal obstruction; facial pain, pressure, or fullness; or both — persists for 10 days or more with no improvement or worsens within 10 days after improvement. Watchful waiting and antibiotic therapy are described.

This is a Clinical Practice article discussing acute sinusitis in adults. At a minimum, the Clinical Problem and the Key Clinical Points should be read, as well as a review of the algorithm for the diagnosis and initial management of acute sinusitis in adults (Figure 1).

As stated by the author: The natural history of acute sinusitis in adults is very favorable; approximately 85% of persons have a reduction or resolution of symptoms within 7 to 15 days without antibiotic therapy. Nonetheless, antibiotics are prescribed for 84 to 91% of patients with acute sinusitis that is diagnosed in emergency departments and outpatient settings.

Recommended learning: Diagnosis and management of acute sinusitis


IMAGES IN CLINICAL MEDICINE

Kerion — A Boggy Lump


A 13-year-old girl presented with a slowly enlarging, painful swelling of the scalp. She had received several courses of empirical oral antibiotics, without improvement. On examination, there was an erythematous, mildly tender, boggy swelling overlying her occiput.

A kerion is an erythematous, boggy, suppuratives lesion, usually on the scalp in children, associated with ringworm infection. This is caused by either Trichophyton or Microsporum infection of the scalp and skin follicles (tinea capitis). The excessive inflammatory response to the fungus results in abscess formation with superficial pustules (secondary bacterial infection), hair loss, and multiple black spots which are broken hairs in the follicle. Typically “ring worm” fungal infection is confined to the stratum corneum of the epidermis.  Kerion should be treated with antifungal therapy such as griseofulvin or fluconazole. Alopecia may be permanent.


IMAGES IN CLINICAL MEDICINE

Generalized Granuloma Annulare Associated with Diabetes Mellitus


A 64-year-old man presented with widespread, erythematous-to-violaceous papules that were distributed symmetrically on his trunk, arms, and legs. Skin biopsy revealed palisading granulomatous inflammation that surrounded degenerating collagen within the dermis.

Granuloma annulare can be localized (more common) or generalized (uncommon). It is manifested by erythematous plaques which form a ring shaped lesion with more normal skin in the centre. The lesions are asymptomatic, flare in the summer, and are generally self-limiting but may take up to two years to spontaneously resolve. These lesions can occur in children and adults. The histology of the lesion is a dermal granuloma with palisading fibrohistiocytic and spindle cells surrounding an area of necrotic collagen. The number of giant cells is variable. The cause is unknown, though it is occasional associated with diabetes mellitus as in this case.

Recommended learning: Review the skin lesions erythema multiforme, erythema marginatum, granuloma annulare, erythema annulare, erythema chronica migrans, discoid LE.



CASE RECORDS OF THE MASSACHUSETTS GENERAL HOSPITAL

Case 27-2016 — A 71-Year-Old Woman with Müllerian Carcinoma, Fever, Fatigue, and Myalgias


A 71-year-old woman with müllerian carcinoma was admitted to the hospital because of fever, fatigue, and myalgias 3.5 weeks after extensive cytoreductive surgery. Anorexia, abdominal pain, and bloating had developed 1 day earlier. Diagnostic studies were performed.

The patient presented with fever, fatigue, myalgia, abdominal pain and alternating constipation and diarrhoea 19 days after cytoreductive surgical therapy for extensive metastatic müllerian carcinoma.  There is a detailed discussion of the differential diagnosis of late post-operative fever. For those with a specific interest in pathology, the discussion of müllerian carcinoma and its management makes for interesting reading.

Recommended learning: Review the causes of post-operative fever at specific time periods after surgery.


Important Articles Related to Mechanisms of Disease and Translational Research


None


Other Articles which should interest medical students


REVIEW ARTICLE

The Primary Outcome Is Positive — Is That Good Enough?


When a clinical trial reaches its primary outcome, several issues must be considered before a clinical message is drawn. These issues are reviewed in this article.

This is another article in the Clinical Trials series. The hyperlinks should be stored with the others in this series for review in the future when necessary.


New Pharmacological Therapies


None


Other articles which may be of interest to certain students


ORIGINAL ARTICLE

Adalimumab in Patients with Active Noninfectious Uveitis


This phase 3 trial showed that persons with noninfectious uveitis who received adalimumab were more likely to have serious adverse events and less likely to have ophthalmic inflammation, uveitic flare, or visual impairment than were those who received placebo


ORIGINAL ARTICLE

Cord-Blood Transplantation in Patients with Minimal Residual Disease (for acute leukaemia of myelodysplastic syndrome)



Patients with minimal residual disease who received a cord-blood transplant had a higher probability of survival than those receiving a transplant from mismatched unrelated donors and a lower risk of relapse than those receiving a transplant from matched or mismatched unrelated donors.

Wednesday, 5 October 2016

NEJM Week of 1st September 2016 (# 59)

Professor Brian Andrews NEJM Recommendations for Medical Students and Tutors
Week of 1st September 2016 (#58)
University of Notre Dame Australia (Fremantle Campus)



Occasional Editorial Comment


None


Must Read Articles



REVIEW ARTICLE

Early-Life Origins of Chronic Obstructive Pulmonary Disease


The conventional thinking about COPD is that exposures in adult life, such as smoking, lead to a low FEV1:FVC ratio, the physiological hallmark of COPD. In this review, the effect of early-life exposures on the lung that could lead to expiratory airflow limitation is reviewed.

The causes of chronic obstructive pulmonary disease (COPD) and the concept that multiple triggers can lead to this heterogeneous disorder is discussed in this article.  COPD is characterised by irreversibly airway obstruction with an abnormally low FEV1 and an FEV1/FVC ratio of less than 0.7. The classic cause of COPD is cigarette and biomass smoke associated with emphysema and chronic bronchitis and leading to neutrophil and CD8 mediated pulmonary inflammation.

The evolving concept is best illustrated in Figure 1.  This suggests that in classical COPD, pulmonary function remains normal (FEV1 at 100% of predicted) until around the age of 30 years and then progressively declines with continued smoking ultimately reaching an FEV1 less than 80% of predicted around the ages of 50–60 years.

The newer concept suggests that some infants are born with a persistently reduced FEV1 due to a variety of prenatal influences:

1.     Genetic factors: Up to 26 loci (SNPs) may explain up to 7.5% of the additive polygenic variance for the FEV1: FVC ratio and 3.4% of the FEV1 reduction.
2.     Maternal smoking: In animal models, reduction in birth FEV1 can be produced by intrauterine nicotine exposure alone. Thus, e-cigarettes which contain purified nicotine, may not be a healthy alternative to cigarette smoking.
3.     Bronchopulmonary dysplasia associated with prematurity and early oxygen requirements.
4.     Intrauterine growth retardation.
5.     Malnourished populations associated with maternal micronutrient deficiency.

Further risk factors throughout childhood and adolescence can lead to an early rapid decline in FEV1 through the age of six years and then a slower progressive decline to reach FEV1 levels diagnostic of COPD by the age of 60 years (Figure 1).
Factors in this age range which contribute to COPD development include:

1.     Radiologically defined pneumonia before the age of 3 years (a major contributor). Some children with adenovirus serotypes 3, 7, and 21 may develop more severe long-term sequelae including bronchiolitis obliterans and bronchiectasis.
2.     Air pollution. Data for the LA basin showed that a reduction in the number of inhaled smaller microparticles and nitrogen dioxide resulted in fewer with an FEV1 less than 0.8 over the 13 year study period.
3.     Persistent childhood asthma (Figure 3-data from the Melbourne Asthma Study).
4.     Active smoking during adolescence.

Students should carefully read this article which is full of specific information and develop a scientific approach to the prevention and management of COPD.



Articles Recommended for Medical Students



CLINICAL PROBLEM-SOLVING

Tip of the Tongue


A 65-year-old woman with a history of HIV infection, hypertension, and hyperlipidemia had a 1-week history of cough with pink sputum and mild shortness of breath on exertion, but no fever, chills, night sweats, rhinorrhea, or nasal congestion.

This is 65 year old smoker with AIDS (CD4 count less than 200 cells/cub. mm.) who presents with new-onset haemoptysis and a lung mass. The provisional diagnosis should be obvious to a medical student. However, in an immunosuppressed patient with AIDS, the immediate tendency may be to focus on infection. The patient also had brain stem cranial nerve involvement which led to an excellent discussion on leptomeningeal carcinomatosis.

Recommended learning: Review the causes and investigations of a patient presenting with dysarthria in varying age groups.


ORIGINAL ARTICLE

Safety of Adding Salmeterol to Fluticasone Propionate in Children with Asthma (1)


This large trial involving children with asthma examined whether the addition of a long-acting beta-agonist to current therapy with inhaled glucocorticoids affected asthma control in children. The primary safety end point was within the prespecified noninferiority margin.


EDITORIAL

Safety of Long-Acting Beta-Agonists in Children with Asthma



ORIGINAL ARTICLE

Serious Asthma Events with Budesonide plus Formoterol vs. Budesonide Alone (2)


In adolescents and adults with moderate-to-severe asthma, the addition of formoterol to inhaled glucocorticoids was associated with a lower risk of asthma exacerbations than that with glucocorticoids alone and with a similar risk of serious asthma-related events.

The two articles and the Editorial discuss the use of long-acting agonists (LABA) in childhood asthma (1) and in patients older than 12 years with serious asthma (2). The Editorial summarises the strengths and weaknesses of both studies but focuses on childhood asthma.

The results indicate that if standard prophylactic corticosteroids fail to control asthma (unusual), rather than increasing the corticosteroid dosage, it appears to be acceptable to add a LABA to the inhaled corticosteroid. Serious adverse effects, such as the rare event of sudden death, were not seen in these studies.

Several important points were extracted verbatim from the Editorial:

1.     Exacerbations are related to asthma-control status, history of exacerbations, environmental triggers, and seasonal, genetic, and immunologic modifying risks.
2.     Predominant causes of asthma-related death are lack of access to health care (45% of the participants had not attempted to seek professional help), lack of personal action plans, underuse of glucocorticoids, overuse or inappropriate use of bronchodilators, underestimation of asthma severity by treating doctors and by parents, lack of objective measures of airway obstruction, and nonadherence to the regimen, including drug and alcohol use by caretakers.
3.     Particularly in children and young people, the poor recognition of the risk of an adverse outcome was an important avoidable factor.
4.     Most children will have their asthma controlled by low-dose inhaled glucocorticoids if taken regularly through an appropriate device.
5.     Monotherapy with a LABA in a child should be considered medical negligence.
6.     For the unusual child with asthma who needs more than low-dose inhaled glucocorticoids to control the disease or who has persistent, objectively documented, variable airflow obstruction, the present trial provides reassuring evidence that combination inhalers containing a LABA and an inhaled glucocorticoid are safe.


IMAGES IN CLINICAL MEDICINE


Emphysematous Prostatitis


A 42-year-old man with diabetes presented to the ED with severe dysuria and incontinence. Laboratory studies were notable for pyuria, leukocytosis, elevated C-reactive protein, and hyperglycemia. Radiography showed an atypical focus of gas accumulation behind the right pubic ramus.

While the most common cause of bacterial prostatitis is E. coli.  In the rare patient with emphysematous prostatitis (occurring predominantly in diabetic and immunosuppressed patients), the most common cause is K. pneumoniae.

Emphysematous pyelonephritis, again more common in diabetics, is usually due to E. coli or K .pneumonia.  In more recent reports, successful management has been achieved with systemic antibiotics together with percutaneous catheter drainage of gas and purulent material, as well as relief of urinary tract obstruction (if present) (UpToDate). The previous standard treatment, which is still occasionally required, is total nephrectomy and drainage.

Recommended learning: Review the causes, presentations and management of acute and chronic prostatitis.


ORIGINAL ARTICLE

Antiretroviral Therapy for the Prevention of HIV-1 Transmission


In this report involving 1763 HIV-1 serodiscordant couples, the suppression of HIV-1 in the infected partner significantly decreased the transmission of genetically linked HIV-1 to the uninfected partner.

The most common mode of HIV infection world-wide is sexual transmission.

The aim of this study was to determine if treatment of HIV in the infected partner leads to fewer infections in the uninfected partner. The two study groups of infected patients were either those with CD4 counts between 350 – 550 /cub.mm (early treatment group ) or those followed and treated when the CD4 count fell below 250 on two occasions or the patient developed an AIDS-defining illness (extended treatment group).

Genetic analysis of the HIV was determined initially in the infected partner at onset of the study and when HIV infection occurred in the previously HIV negative partner. A similar HIV genetic profile indicated transmission from the infected to the uninfected partner, while differing genetic profiles indicated that the previously uninfected partner received the HIV from another infected source. 1763 couples were enrolled in the study (see Figure 1).

 Seventy eight (78) HIV infections were demonstrated in the previously uninfected partners over a five year study period. Seventy two (72) of the new infections were able to be genotyped.

The data indicate that genetically-linked HIV in the early treatment group was reduced by 93% when compared with the extended treatment group. Most of the infections that occurred in the early treatment group (82%) were not genetically linked, while in the extended treatment group 22% were not genetically linked.

In the early treatment group, most HIV infections occurred by a second infected partner, although there were a few with similar genotypes probably indicating inadequate or non-compliance with medication.  In the extended treatment group, 78% of infections were linked and 22% were unlinked. Thus early prophylactic treatment of the HIV positive partner resulted in a marked reduction in HIV infection in the uninfected partner and was completely eliminated if the HIV infection was stably supressed in the early treatment partner.



Important Articles Related to Mechanisms of Disease and Translational Research



CLINICAL IMPLICATIONS OF BASIC RESEARCH

Muscling In on Cancer


Investigators recently described a study of mouse models of cancer, in which they found that contracting muscle fibers synthesize an anticancer myokine, interleukin-6.

Hippocrates is reported to have said, “Walking is man’s best medicine.” Regular exercise, including daily brisk walking, is associated with a lower risk of several cancers and with lower risks of tumor recurrence and death among survivors, particularly of colorectal and breast cancers. Data suggest a potential dose-dependent benefit of exercise against colon cancer and possibly postmenopausal breast cancer. People with the highest exercise loads have a 40% lower cancer-related mortality than the general population.

Previous studies have indicated that muscle fibres contracting during exercise release myokines that lead to apoptosis in breast and colon cancer cells. In the currently reviewed study in Cell Metab. 2016, the researchers demonstrated in exercising mice with melanoma, liver and lung cancer that IL-6 (muscle origin) and epinephrine were released post-exercise.  These factors could have been responsible for increased mobilization of NK cells into the tumours and enhanced expression of NK ligands on the tumour cells leading to their destruction by the NK cells.

This provides further evidence that for patients with a malignancy, exercise can only help other therapies in combating the tumour.

Recommended learning: Review the evidence that exercise is beneficial to your health.



Other Articles which should interest medical students


ORIGINAL ARTICLE

Mutations Associated with Acquired Resistance to PD-1 Blockade in Melanoma


Whole-exome sequencing was performed on four patients' tumors before exposure to pembrolizumab and after disease progression following a response to treatment. Acquired mutations involving antigen presentation and interferon response were noted.

EDITORIAL

Unmasking PD-1 Resistance by Next-Generation Sequencing


PD-L1 is a ligand on the surface of cells which stops them being destroyed by T cells. T cells possess PD-1 on their surface and when this reacts with PD-L1 ligand, the T cells are inactivated and unable to destroy the cell. This is a normal mechanism of tolerance to protect cells from destruction by circulating T cells.  However, when tumour cells express PD-L1 ligand on their surface, they evade destruction by T cells. Pembrolizumab is a humanized monoclonal antibody (a form of check-point therapy) that binds to PD-1 on the surface of T cells, stops T cell inactivation by PD-L1 on the surface of the tumour cell, and allows the T cell to destroy the tumour cell.

 This drug is being employed effectively in the treatment of metastatic melanoma (up to 75% objective responses) and more recently in some forms of lung cancer. This is the drug has been extremely effective in the short-term treatment of metastatic melanoma in President Jimmy Carter (https://www.mskcc.org/blog/understanding-jimmy-carter-s-surprise-turnaround-conversation-jedd-wolchok).
 
The study describes in detail four patients with metastatic melanoma who responded initially to Pembrolizumab but who subsequently developed resistance to the drug. Each patient had biopsies studied before therapy and then after recurrence. Whole-exome sequencing was carried out on all samples, as well as immunohistochemical analyses for CD8 positive T cells, PD-L1 expression, and melanoma cell markers. In three of the patients, mechanisms of resistance to immune destruction were suggested. In two patients loss-of-function mutations in the genes encoding interferon-receptor-associated Janus kinase 1 and Janus kinase 2 were found.  This mutation lead to lack of response of the tumour cell to interferon. In the third case a truncating mutation of b-2-microglobulin (necessary to form the extra-membrane chain of the class I MHC) was found. Absence of functional class I MHC on the surface of the tumour cell would allow it to avoid destruction by cytotoxic CD8 positive T cells.

This study involved an enormous effort by many investigators and provides evidence for a variety of molecular mechanisms of acquired resistance to pembrolizumab in three patients with metastatic melanoma. In the Discussion section of the article, further conventional mechanisms are described which may account for tumour resistance.

Recommended learning: Review the basic mechanisms whereby tumours can escape immune detection and subsequent destruction.


IMAGES IN CLINICAL MEDICINE

Pneumorrhachis, Pneumothorax, and Subcutaneous Emphysema


A 65-year-old man was admitted for adjuvant radiotherapy after a previous tumor mass reduction and stabilizing spinal surgery for a synovial sarcoma. Ballooning of the left paravertebral area, which increased when the Valsalva maneuver was performed, is shown in a video.

The very interesting series of CT scans and the video should be reviewed. This was a first for me as well as learning the definition of pneumorrhachis (air in the intraspinal space where it can be extradural or intradural). A previous review discusses this event (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1602196/ ) which can be minor and fairly common or major and uncommon (as in this case).


REVIEW ARTICLE

THE CHANGING FACE OF CLINICAL TRIALS

The Primary Outcome Fails — What Next?


When the primary outcome of a clinical trial fails to reach its prespecified end point, can any clinically meaningful information still be derived from it? This review article addresses that question.

This is another article in the Clinical Trials series which should be stored with all previous articles in your data base for further use. All of these articles will be useful when UNDA embarks on the MD in 2017 and will help in the reviewing of articles that pertain to clinical trials and their design.


New Pharmacological Therapies


None


Wednesday, 28 September 2016

NEJM Week of 25th August 2016 (# 57)

Professor Brian Andrews NEJM Recommendations for Medical Students and Tutors
Week of 25th August 2016 (#57)
University of Notre Dame Australia (Fremantle Campus)



Occasional Editorial Comment


None


Must Read Articles



ORIGINAL ARTICLE

A Randomized Trial of Focused Ultrasound Thalamotomy for Essential Tremor


In this randomized, sham-controlled trial, MRI-guided focused ultrasound thalamotomy reduced hand tremor in patients with essential tremor who had not had a response to medication. Adverse effects of the procedure included sensory deficits and gait disturbances.


EDITORIAL

Treatment of Medically Refractory Essential Tremor


This is a significant study in patients with essential tremor which employs ultrasound thalamotomy to induce a permanent lesion in the contralateral ventro-intermediate nucleus of the thalamus. Patients had moderately severe essential tremor, present for up to 30 years, which was resistant to or non-responsive to propranolol or primidone.  A major advantage of the technique is that no surgery is required (burr holes with or without wire placement) in a patient group that is surgery adverse. Reduction in severity of the tremor (Figure 1) and improvement in social activities and ADLs (not speech) (Figure 2) are seen to varying extents in the majority of patients. Major concerns with the study were the short follow-up period after thalamotomy (up to 12 months) and the probable lack of further improvement at 12 months (similar results with burr holes with induced thalamotomy). Long term follow-up is undoubtedly underway. Further adverse effects related to the procedure (Table 2) were paraesthesiae or numbness in 14% of patients, which were most common in the face or hand (9%). The question is what improvement occurred in the tremor versus how severe the numbness and paraesthesiae were; i.e. were the adverse effects worth the improvement in the tremor?
Another procedure employed is burr hole placement with deep brain stimulation with wires where no permanent major thalamic lesion is induced and where the degree of stimulation can be adjusted.

Ideally the following studies should be done:

1.     Continue long-term follow-up of the current study.
2.     Compare the results of ultrasound thalamotomy with deep brain stimulation.
3.     Re-introduce medical therapy after ultrasound thalamotomy to determine if medical therapy is now effective.
4.     Repeat the procedure on patients where minimal improvement was produced with the initial thalamotomy and where no adverse effects occurred.

Recommended learning:

1.     Review essential tremor, the neurobiology and pathways involved, and its management.
2.     Review the types of tremors observed in clinical practice, their mechanisms, and management.


REVIEW ARTICLE

Treatment of Patients with Cirrhosis


This guide to the practical treatment of patients with cirrhosis summarizes recent developments. It includes advice on medical management, invasive procedures, nutrition, prevention, and strategies to protect the cirrhotic liver from harm.

This is a comprehensive review of cirrhosis which will be the standard reference article for years to come. The article reviews cirrhosis under the following areas:  epidemiology and diagnosis, nutrition; medications employed, invasive procedures; complications and how to avoid them, and the clinical approach to the patient.
 At a minimum, the three figures and tables should be reviewed, even if the article is not read at this stage in its entirety.

Recommended learning: While I suggest you review what you have been taught on cirrhosis in the curriculum, this review is by far the best resource, as it also reviews such areas as hepatocellular cancer, degree of reversibility of liver pathology following insult(s), and the public health aspects of cirrhosis including its causes.



Articles Recommended for Medical Students



Perspective

Uncertainty in the Era of Precision Medicine

Far from ushering in an age of diagnostic and prognostic certainty, precision-medicine tools will demand a greater tolerance of uncertainty and greater facility for calculating and interpreting probabilities than we have been used to as physicians and patients.

ORIGINAL ARTICLE

70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer
In a study in women with early breast cancer, those with high-risk clinical features and a low-risk gene-expression profile were assigned to chemotherapy or no chemotherapy. At 5 years, omission of chemotherapy led to a 1.5-percentage-point lower rate of survival without distant metastasis.

EDITORIAL
Increasing Precision in Adjuvant Therapy for Breast Cancer

The above three articles relate to both the concept and the improvement of “precision medicine” which implies both precision based diagnosis and precision in predicting the outcomes (both positive and negative) of therapy. The Perspective provides an overview of “precision medicine” and if only one article were to be read, this is the one I would choose.  To date, the most widely studied patient group in which genomic analysis has been applied is the group of patients with malignant disease.
The study involves a cohort of 6693 patients with early stage breast cancer and utilizes the 70-gene signature test (first described 14 years ago), the validity of which has been demonstrated in earlier studies in defining patients with high and low risk genomic profile with a good and poor prognosis respectively. Prognosis was based on the risk of distant recurrence at 5 and 10 year follow-up. Experienced physicians have developed expertise in the assessment of patients with breast cancer in determining clinical outcomes (stage, grade, immunopathology, premorbid disease).  Such techniques as genomic analysis in improving clinical outcomes and assessing the effects of therapy will be progressively added to the clinical outcomes in the future.
Patients in the study were divided into four groups based on the presence of high or low genomic risk and high or low clinical risk (Table 1). The hypothesis generated was: could patient groups be identified in which adjuvant chemotherapy, with its attendant risks, be avoided but achieving similar outcomes to those treated with chemotherapy? Based on available data, patients with both low clinical and genetic risks did not receive adjuvant chemotherapy and patients with both high clinical and genomic risks all received adjuvant chemotherapy.

The study then focussed on those patients with high clinical and low genomic risk (HCLG), although data was also generated for the low clinical and high genomic (LCHG) risk group. The five year outcomes of this study were:

1.     Disease free survival (Figure 2): chemotherapy improved the HCLG group (p=0.03) and also the LCHG, although “not statistically significant” in the latter group.
2.     Overall survival (Figure 2): there was no difference with or without chemotherapy in either group.
3.     Survival without distant metastases: there was no difference with or without chemotherapy in either group.
4.     The overall survival without distant metastases did not differ significantly between the HCLG and LCHG groups which were both significantly different from either the HCHG and LCLG groups (Figure 3).

While this study provides significant new information, more long term follow-up data and refinement of the genomic analyses will be required before “precision medicine” correctly earns its title.


IMAGES IN CLINICAL MEDICINE

Giant Thrombosed Intracranial Aneurysm
A 79-year-old woman presented with gradual neurologic decline involving confusion, memory loss, imbalance, and incontinence. On examination, she was oriented only to self and had mild nonfluent aphasia. CT revealed a large left frontotemporal mass with areas of calcification.

This is a case of a 79 year-old woman who presented with symptoms of low/normal pressure hydrocephalus (confusion, memory loss, imbalance and urinary incontinence) and was found to have an old calcified, giant thrombosed intracranial aneurysm involving the bifurcation of the left middle cerebral artery. Surgery was not performed to remove the aneurysm because of the surgical risk.  However, with less extensive surgery involving placement of a ventriculoperitoneal shunt and an endoscopic transfrontal septostomy to relieve the hydrocephalus, there was an overall improvement in the patient’s neurological status.


IMAGES IN CLINICAL MEDICINE

A Sneeze
A human sneeze can eject droplets of fluid and potentially infectious organisms. The image sequence captures, in increments of 20 msec, the emission of a sneeze cloud produced by a healthy person. Two videos show the same sneeze at normal speed and at a much slower speed.

The video image of a normal sneeze demonstrates the distance that droplets produced by the sneeze can travel and reminds us of the importance of sneezing in spreading potentially infectious micro-organisms.


SPECIAL REPORT

Body Fatness and Cancer — Viewpoint of the IARC Working Group
The International Agency for Research on Cancer convened a workshop on the relationship between body fatness and cancer, from which an IARC handbook on the topic will appear. An executive summary of the evidence is presented.

This article summarises the current data generated by the International Agency for Research on Cancer (IARC) regarding obesity and cancer risk. The agency reviewed more than 1000 observational studies and compared the cancer-preventive effect with the absence of body fat. Their results are presented in Table 2. They compare the cancer site or type with the strength of evidence in humans that the absence of excess body fatness lowers the risks of most cancers.  However the data indicate that there is as yet no specific evidence that intentional weight loss lowers the risks of developing specific cancers.

IARC have also identified an additional eight tumour types where the absence of fat is associated with a lower risk of specific cancers (gastric cardia, liver, gallbladder, pancreas, ovary, thyroid, multiple myeloma and meningioma) (see Table 2 for full data).

     

Important Articles Related to Mechanisms of Disease and Translational Research


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Other Articles which should interest medical students


CASE RECORDS OF THE MASSACHUSETTS GENERAL HOSPITAL

Case 26-2016 — A 28-Year-Old Woman with Back Pain and a Lesion in the Lumbar Spine
A 28-year-old woman presented with intractable back pain with radiation to the leg. Examination of biopsy specimens revealed a giant-cell tumor of bone. Management decisions were made.

The case is that of a 28 year old female presenting with low back pain and found to have a giant-cell tumour of bone (osteoclastoma) destroying L5 and extending into the spinal canal and into the surrounding soft tissues. There is a detailed discussion of the management of this patient and a differential diagnosis of the bony lesion.
Of interest is the use of denosumab, a humanized monoclonal antibody directed against RANKL which is expressed on the surface of osteoblasts as well as the surface of mononuclear stromal cells present within the osteoclastoma. RANKL binds to RANK on the surface of osteoclasts and osteoclast precursor cells leading to osteoclast activation and osteoclast precursor differentiation.

It is believed that the neoplastic cell within the osteoclastoma is the mesenchymal cell expressing RANKL which then leads secondarily to osteoclast formation.

In osteoporosis, denosumab inhibits RANKL activation of RANK on osteoclast precursors and thus inhibits osteoclastic bone remodelling.

Recommended learning: Review the pathophysiological mechanisms involved in osteoporosis and the mechanisms of actions of drugs used in the treatment.
 

New Pharmacological Therapies

The aim of this new section is to introduce new therapies, particularly those that provide either a novel pharmacological group, an established drug that is employed for a new indication or where a new mechanism of action has been established for a drug.


ORIGINAL ARTICLE

Inotuzumab Ozogamicin versus Standard Therapy for Acute Lymphoblastic Leukemia
Among adults with relapsed acute lymphoblastic leukemia, treatment with the anti-CD22 drug conjugate inotuzumab ozogamicin produced a higher rate of complete remission, as well as a higher rate of veno-occlusive disease, than did standard chemotherapy.

Inotuzumab ozogamicin is an agent combining a humanized anti-CD22 (a non-shed, cell surface glycoprotein expressed on the surface of ALL B cells in 90% of patients) monoclonal antibody with a cytotoxic antibiotic calicheamicin. The drug binds to the CD22 surface receptor and is then rapidly internalized followed by release of the calicheamicin. Calicheamicin then binds to the minor groove of DNA, inducing double-strand cleavage and subsequent apoptosis. An uncommon side effect is hepatic veno-occlusive disease.


ORIGINAL ARTICLE

Daratumumab, Bortezomib, and Dexamethasone for Multiple Myeloma
In a study involving patients with refractory multiple myeloma, the anti-CD38 antibody daratumumab in combination with bortezomib and dexamethasone resulted in longer progression-free survival and a higher rate of response than bortezomib and dexamethasone alone.

Daratumumab is a human IgGκ monoclonal antibody that targets CD38, which is highly expressed on the surface of myeloma cells and other hematopoietic cell types. Daratumumab has direct and indirect antitumor activity and diverse mechanisms of action, including:

1.     Induction of apoptosis;
2.     Immune-mediated actions, including complement-dependent cytotoxicity, antibody-dependent cell-mediated cytotoxicity, and antibody-dependent cellular phagocytosis; and

3.     Immunomodulatory functions that target and deplete CD38-positive regulator immune suppressor cells which lead to T-cell expansion and activation in patients who have a response to this monoclonal antibody.