Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...

HYPOTHESIS Measurement of pancreatic polypeptide (PP) response to sham feeding and pharmacological stimulation is a safe, noninvasive, and sensitive test for vagal integrity. DESIGN Interventional study with control arms. SETTING Tertiary center for esophageal surgery. PATIENTS Thirty healthy volunteers and 25 patients who underwent total esophagectomy formed the control group with intact...

The risk of false positive results in noninvasive prenatal diagnosis focused on fetal gender and RhD status determination could be a problem in clinical routine. This is because these tests are based on detection of presence of DNA sequences with high population frequency and so there is the risk of sample contamination during sample collection and processing. In our study the different fragmen...

n engl j med 366;18 nejm.org may 3, 2012 1743 with vitamin B12, but both continue to have symptoms of peripheral neuropathy. There have been reports of false normal results for vitamin B12 levels generated by automated analyzers when the serum of patients with megaloblastic anemia is evaluated. The results have been attributed to the possibility that high levels of intrinsic factor–blocking ant...

the placenta into the maternal circulation as the cells break down (apoptosis) and the DNA becomes fragmented [4,5]. Circulating fetal cfDNA comprises approximately 3-13% of the total maternal cfDNA. These DNA fragments can be detected as early as 4 weeks of gestation and are generally cleared out within 2 hours after childbirth [6-8]. A noninvasive prenatal test (NIPT) using cfDNA has proven t...

Case presentation: A 56-year-old woman with obesity and dyslipidemia was referred for an exercise treadmill test to evaluate atypical chest pain. She exercised for 5 minutes 30 seconds (7 metabolic equivalents) on a standard Bruce protocol and stopped because of fatigue. Her heart rate increased from 82 to 148 bpm (90% of maximal predicted heart rate), and her blood pressure increased from 136/...

A method to evaluate internal voltages through a builtin test structure is presented. Multiplexers are used to increase accessibility. The test structure does not affect normal operation of the circuit. Individual subcircuits can be tested selectivel,v based on evaiuated internal voltages.

Myocardial perfusion imaging (MPI) is a highly sensitive and specific test for noninvasive detection of coronary artery disease. Therefore, in patients with negative MPI results, further noninvasive testing is usually not pursued. We report a series of patients with negative MPI results in whom 64-slice computed tomographic coronary angiography accurately predicted flow-limiting coronary lesion...

objective(s): intracerebroventricular injection of orexin-a (hypocretin-1) antagonist has been shown to inhibit stress-induced analgesia. however the locations of central sites that may mediate these effects have not been totally demonstrated. this study was performed to investigate the role of rostral ventromedial medulla (rvm) orexin receptor 1 in stress-induced analgesia (sia). materials and...