Internal Medicine

Alpha-1 antitrypsin Deficiency (AATD) is a common, but under recognized metabolic genetic disease. Although many mutations in the alpha-1 antitrypsin (AAT) gene are described, the Z variant is the allele overwhelmingly associated with liver disease. PI*ZZ homozygotes occur in approximately 1 in 2,000-5,000 births in North American and European populations. The AAT protein is synthesized in large quantities by the liver, and then secreted into serum. Its physiologic function is to inhibit neutrophil proteases in order to protect host tissues from non-specific injury during periods of inflammation...

No abstract text is available yet for this article.

Fevers of unknown origin remain one of the most difficult diagnostic challenges in medicine. Because fever of unknown origin may be caused by over 200 malignant/neoplastic, infectious, rheumatic/inflammatory, and miscellaneous disorders, clinicians often order non-clue-based imaging and specific testing early in the fever of unknown origin work-up, which may be inefficient/misleading. Unlike most other fever-of-unknown-origin reviews, this article presents a clinical approach. Characteristic history and physical examination findings together with key nonspecific test abnormalities are the basis for a focused clue-directed fever of unknown origin work-up...

Hyperkalemia is a clinically important electrolyte abnormality that occurs most commonly in patients with chronic kidney disease. Due to its propensity to induce electrophysiological disturbances, severe hyperkalemia is considered a medical emergency. The management of acute and chronic hyperkalemia can be achieved through the implementation of various interventions, one of which is the elimination of medications that can raise serum potassium levels. Because many such medications (especially inhibitors of the renin-angiotensin aldosterone system) have shown beneficial effects in patients with cardiovascular and renal disease, their discontinuation for reasons of hyperkalemia represent an undesirable clinical compromise...

No abstract text is available yet for this article.

New England Journal of Medicine, Volume 372, Issue 19, Page 1860-1864, May 2015.

New England Journal of Medicine, Volume 372, Issue 21, Page 2064-2068, May 2015.

Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin...

BACKGROUND: The consensus definition of severe sepsis requires suspected or proven infection, organ failure, and signs that meet two or more criteria for the systemic inflammatory response syndrome (SIRS). We aimed to test the sensitivity, face validity, and construct validity of this approach. METHODS: We studied data from patients from 172 intensive care units in Australia and New Zealand from 2000 through 2013. We identified patients with infection and organ failure and categorized them according to whether they had signs meeting two or more SIRS criteria (SIRS-positive severe sepsis) or less than two SIRS criteria (SIRS-negative severe sepsis)...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: In 2004, Gabbay and le May showed that clinicians generally base their decisions on mindlines-internalised and collectively reinforced tacit guidelines-rather than consulting written clinical guidelines. We considered how the concept of mindlines has been taken forward since. METHODS: We searched databases from 2004 to 2014 for the term 'mindline(s)' and tracked all sources citing Gabbay and le May's 2004 article. We read and re-read papers to gain familiarity and developed an interpretive analysis and taxonomy by drawing on the principles of meta-narrative systematic review...

The number of cancer survivors continues to increase due to the aging and growth of the population and improvements in early detection and treatment. In order for the public health community to better serve these survivors, the American Cancer Society and the National Cancer Institute collaborated to estimate the number of current and future cancer survivors using data from the Surveillance, Epidemiology, and End Results (SEER) program registries. In addition, current treatment patterns for the most common cancer types are described based on information in the National Cancer Data Base and the SEER and SEER-Medicare linked databases; treatment-related side effects are also briefly described...

This issue provides a clinical overview of Obstructive Sleep Apnea focusing on prevention, diagnosis, treatment, practice improvement, and patient information. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including ACP Smart Medicine and MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic from these primary sources in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of science writers and physician writers...

New England Journal of Medicine, Volume 369, Issue 9, Page 840-851, August 2013.

The practice of medicine is a fruitful marriage of classic diagnostic and healing arts with modern advancements in many relevant sciences. The scientific aspects of medicine are rooted in understanding the biology of our species and those of other organisms that interact with us in health and disease. Thus, it is reasonable to paraphrase Dobzhansky, stating that, "nothing in the biological aspects of medicine makes sense except in the light of evolution." However, the art and science of medicine are also rooted in the unusual cognitive abilities of humans and the cultural evolutionary processes arising...