Internal Medicine - Basic Science/Genetics News & Articles

What makes MDLinx Internal Medicine different from all the other primary care literature reviews? Our team of medical editors read over 2,000 medical journals every day so you can stay current in less than 5 minutes! They sort, rank and summarize every article that will impact your daily practice. They even mark which articles are available in free full text, which are clinical or evidence-based, and which have MDLinx Exclusive Author Commentary from the people who actually performed the research.

Also on this page you’ll see bonus content from our physician editor, D. Scott Cunningham, MD, PhD, in the form of his top highlights you can’t miss, along with clinical pearls from The Smartest Internist, a quiz competition from the editors of MDLinx Internal Medicine in collaboration with the Cleveland Clinic Center for Continuing Education.

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Articles

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Ranked, sorted, and summarized by MDLinx editors from the latest literature

Topics:

81 Venous malformation -causative TIE2-mutations mediate an AKT-dependent decrease in PDGFB Human Molecular Genetics, May 8, 2013 Review Article

82 Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4 Human Molecular Genetics, May 8, 2013 Review Article

83 Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus Human Molecular Genetics, May 8, 2013 Review Article

84 Functional implications of splicing polymorphisms in the human genome Human Molecular Genetics, May 8, 2013 Review Article

85 A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1 Human Molecular Genetics, May 8, 2013 Review Article

86 Robust evidence for five new Grave's disease risk loci from a staged genome-wide association analysis Human Molecular Genetics, May 8, 2013 Review Article

87 A New Single Gene Deletion on 2q34: ERBB4 Is Associated With Intellectual Disability American Journal of Medical Genetics Part A, May 8, 2013 Review Article

88 Utilizing High-Fidelity Crucial Conversation Simulation in Genetic Counseling Training American Journal of Medical Genetics Part A, May 8, 2013 Review Article

89 Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication American Journal of Medical Genetics Part A, May 8, 2013 Review Article

90 ACTA2 Mutation With Childhood Cardiovascular, Autonomic and Brain Anomalies and Severe Outcome American Journal of Medical Genetics Part A, May 8, 2013 Review Article

91 Intragenic ILRAPL1 Deletion in a Male Patient With Intellectual Disability, Mild Dysmorphic Signs, Deafness, and Behavioral Problems American Journal of Medical Genetics Part A, May 8, 2013 Review Article

92 Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2?14 Deletion: Report and a Review of Literature American Journal of Medical Genetics Part A, May 8, 2013 Review Article

93 A systematic scoping review of adherence to reporting guidelines in health care literature Journal of Multidisciplinary Healthcare, May 8, 2013 Evidence Based Medicine Review Article

94 Development of the Human Aortic Arch System Captured in an Interactive Three-Dimensional Reference Model American Journal of Medical Genetics Part A, May 7, 2013 Review Article

95 Partial Tetrasomy 14 Associated With Multiple Malformations American Journal of Medical Genetics Part A, May 7, 2013 Review Article

96 Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome American Journal of Medical Genetics Part A, May 7, 2013 Review Article

97 Novel Mutation in TP63 Associated With Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T Cell Lymphopenia American Journal of Medical Genetics Part A, May 7, 2013 Review Article

98 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature American Journal of Medical Genetics Part A, May 7, 2013 Review Article

99 Anal Atresia, Coloboma, Microphthalmia, and Nasal Skin Tag in a Female Patient with 3.5?Mb Deletion of 3q26 encompassing SOX2 American Journal of Medical Genetics Part A, May 7, 2013 Review Article

100 Palmo-Plantar Hyperkeratosis, Intellectual Disability, and Spastic Paraplegia in Two Maternal Half Brothers: Further Evidence for an X-Linked Inheritance American Journal of Medical Genetics Part A, May 7, 2013 Review Article

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Clinical Pearls in Internal Medicine

Vitamin D deficiency is more common with non-Caucasian patients, and those with lower social support, no insurance, diabetes, lower activity levels, higher parathyroid hormone levels, and higher body mass indexes
Eating an early breakfast and dinner when taking PPIs can lower FSSG scores and improve GERD symptoms. (Factors leading to increased FSSG scores were female gender, inadequate sleep, lack of breakfast, antihypertensive agent non-users and dinner just before bedtime.)
No single method of contraception is contraindicated by age alone, but caution should be exercised with estrogen-containing preparations in obese women over 40

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Highlights in Internal Medicine

Vitamin D deficiency is associated with increased mortality in ICU patients

Among 130 patients requiring mechanical ventilation, 107 were vitamin D-deficient (< 20 ng/ml). Of the patients who did not survive, the length of survival was shorter in the vitamin D-deficient patients (15.3 vs. 24.2 days, respectively).

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Coronary artery calcium increases cardiovascular risk in patients with T2DM and HTN

Researchers at Tel-Aviv University have conducted a study to determine the value of coronary artery calcium (CAC) measurements in cardiovascular risk stratification in patients with T2DM and HTN. The study involved 423 patients enrolled in the International Nifedipine Study: Intervention as Goal for Hypertension Therapy. The patients had baseline CT scans for CAC measurement at baseline and were shown to be free of disease. Follow-up CT scans were performed at 3 and 15 years. Cardiovascular events (CVEs) occurred in 41 of 423 patients at 3 years and 111 of 268 patients at 15 years of follow-up. CVEs occurred in 15% and 52% (CAC+) and 7% and 32% (CAC-) of patients with T2DM at 3 and 15 years of follow-up, respectively. Compared to patients without T2DM and no CAC, the HRs for a CVE were 6.6 and 3.9 in T2DM patients with and without CAC, respectively.

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CAC scores add predictability to Framingham

Researchers at Erasmus University Medical Center in Rotterdam have evaluated 12 measures (N-terminal fragment of prohormone B-type natriuretic peptide levels, von Willebrand factor antigen levels, fibrinogen levels, chronic kidney disease, leukocyte count, C-reactive protein levels, homocysteine levels, uric acid levels, coronary artery calcium [CAC] scores, carotid intima–media thickness, peripheral arterial disease, and pulse wave velocity), in addition to Framingham risk scores for predicting coronary heart disease. Only the CAC was shown to add significantly to the Framingham risk score in predicting coronary heart disease.

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Most Popular Internal Medicine Articles

Last month's top read Top Articles of 2012

1 Walking Versus Running for Hypertension, Cholesterol, and Diabetes Mellitus Risk Reduction Arteriosclerosis, Thrombosis, and Vascular Biology, April 17, 2013

2 Coronary artery bypass graft surgery versus percutaneous coronary intervention in patients with three-vessel disease and left main coronary disease: 5-year follow-up of the randomised, clinical SYNTAX trial The Lancet, April 18, 2013

3 Vitamin D Levels for Preventing Acute Coronary Syndrome and Mortality: Evidence of a Non-Linear Association Journal of Clinical Endocrinology and Metabolism, March 27, 2013
Exclusive Author Commentary

4 Primary Prevention of Cardiovascular Disease with a Mediterranean Diet New England Journal of Medicine, April 8, 2013 Free full text

5 Effect of ivabradine in patients with left-ventricular systolic dysfunction: a pooled analysis of individual patient data from the BEAUTIFUL and SHIFT trials European Heart Journal, March 29, 2013

6 Renin-angiotensin system inhibitors for prevention of recurrent atrial fibrillation: a meta-analysis International Journal of Clinical Practice, April 9, 2013 Evidence Based Medicine Review Article

7 Leukaemia update. Part 1: diagnosis and management British Medical Journal, April 9, 2013 Review Article

8 Vitamin D and Calcium Supplementation to Prevent Fractures in Adults: U.S. Preventive Services Task Force Recommendation Statement Annals of Internal Medicine, February 26, 2013 Clinical Guideline

9 Single dose oral ibuprofen plus codeine for acute postoperative pain in adults Cochrane Reviews, April 1, 2013 Review Article

10 Atherosclerosis across 4000 years of human history: the Horus study of four ancient populations The Lancet, March 26, 2013

11 Effects of vitamin D supplementation on body fat accumulation, inflammation, and metabolic risk factors in obese adults with low vitamin D levels -- Results from a randomized trial European Journal of Internal Medicine , April 11, 2013

12 Physical Activity and Cardiovascular Disease in African Americans in ARIC Medicine and Science in Sports and Exercise, March 14, 2013

13 Biolimus-eluting biodegradable polymer-coated stent versus durable polymer-coated sirolimus-eluting stent in unselected patients receiving percutaneous coronary intervention (SORT OUT V): a randomised non-inferiority trial The Lancet, March 26, 2013

14 Iron deficiency in chronic heart failure: An international pooled analysis American Heart Journal, April 1, 2013

15 Anaphylaxis: the acute episode and beyond British Medical Journal, March 1, 2013

16 Red flags to screen for malignancy in patients with low-back pain Cochrane Reviews, March 8, 2013

17 The endocrinology of exercise Internal and Emergency Medicine, March 27, 2013 Review Article
Exclusive Author Commentary

18 Role of Fructose-Containing Sugars in the Epidemics of Obesity and Metabolic Syndrome Annual Review of Medicine, January 17, 2013 Review Article

19 Effects of individual and combined dietary weight loss and exercise interventions in postmenopausal women on adiponectin and leptin levels Journal of Internal Medicine, March 1, 2013

20 Trajectories of cardiometabolic risk factors before diagnosis of three subtypes of type 2 diabetes: a post-hoc analysis of the longitudinal Whitehall II cohort study The Lancet, March 20, 2013

Indexed Journals in Internal Medicine: New England Journal of Medicine, The Lancet, Archives of Internal Medicine more

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Internal Medicine - Basic Science/Genetics News & Articles

Articles

Clinical Pearls in Internal Medicine

Highlights in Internal Medicine

Vitamin D deficiency is associated with increased mortality in ICU patients

Coronary artery calcium increases cardiovascular risk in patients with T2DM and HTN

CAC scores add predictability to Framingham

Most Popular Internal Medicine Articles

Other Topics in Internal Medicine