Omission of etoposide in the treatment of haemophagocytic lymphohistiocytosis secondary to primary central nervous system lymphoma with satisfactory response.

Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory condition that can be either familial or acquired and, if untreated, frequently results in multiorgan failure and death. Treatment of HLH typically requires a combination of glucocorticoids and cytotoxic chemotherapy. We describe the case of a woman who presented with signs and symptoms concerning for HLH who was later found to have a primary central nervous system (CNS) diffuse large B-cell lymphoma.

Nepalese indoor cookstove smoke extracts alter human airway epithelial gene expression, DNA methylation and hydroxymethylation.

Household air pollution caused by inefficient cooking practices causes 4 million deaths a year worldwide. In Nepal, 86% of the rural population use solid fuels for cooking. Over 25% of premature deaths associated with air pollution are respiratory in nature.

Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells.

GPR126 is an adhesion G protein-coupled receptor which lies on chromosome 6q24. Genetic variants in this region are reproducibly associated with lung function and COPD in genome wide association studies (GWAS). The aims of this study were to define the role of GPR126 in the human lung and in pulmonary disease and identify possible casual variants.

Extended lifespan of bronchial epithelial cells maintains normal cellular phenotype and transcriptome integrity.

Genetic studies have identified several epithelial-derived genes associated with airway diseases. However, techniques used to study gene function frequently exceed the proliferative potential of primary human bronchial epithelial cells (HBECs) isolated from patients. Increased expression of the polycomb group protein BMI-1 extends the lifespan of HBECs while maintaining cell context plasticity.

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. It has been speculated that urofacial syndrome has a neural basis, but it is unknown whether defects in urinary bladder innervation are present. We hypothesized that urofacial syndrome features a peripheral neuropathy of the bladder.

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.

Stent deployment for peripheral venous stenosis as a result of radiation therapy.

Arterial occlusive disease is a well-known complication of radiation therapy, but venous thrombosis and occlusion after radiotherapy may also occur. We report the use of an endovascular stent to treat a patient who developed peripheral venous stenosis 4 years after radiation therapy for malignant melanoma.

Calcium antagonists: A new class of therapeutic agents.

A new class of therapeutic agents, sharing inhibition of the slow calcium channel, will soon be available to the American patient. Selective action of these agents upon the atrioventricular node, the smooth muscle of coronary and peripheral arteries, and the contractility of cardiac muscle opens new vistas in cardiovascular pharmacology. Early release of these agents by the Federal Drug Administration for general use is urged, based upon the already wide and successful experience in the European and South American continents.

The value of electrocardiographic R-wave changes in exercise testing: Preexercise versus postexercise measurements.

To determine the usefulness of R-wave amplitude changes during exercise testing for the diagnosis of coronary artery disease (CAD) and to understand the discrepancies that have been described in the literature regarding their value, we studied two groups of patients by means of electrocardiographic (EKG) treadmill testing and coronary arteriography. Group I was composed of 149 patients who were studied prospectively. The specificity of R-wave changes measured from preexercise to immediately postexercise (SRV(5)) was 81%, but that of R-wave changes measured from preexercise to peak exercise (URV(5)) was 46%.

Technique for evaluating left ventricular performance with apical two-dimensional echocardiography: Progress report.

A technique of modelling the left ventricle for the purpose of volume determination has been devised. Two-dimensional echocardiographic data from the apical four chamber and two chamber views are used to pattern the ventricle as a stack of elliptical discs. The method has been validated for an array of regular geometric shapes commonly associated with ventricular architecture.

Noninvasive assessment of the stenotic mitral valve orifice by two-dimensional echocardiography.

Two-dimensional echocardiographic imaging of the mitral valve orifice was attempted in 26 patients with isolated mitral stenosis. The intention was to examine further the clinical usefulness and limitations of this technique for estimating the severity of mitral stenosis. Technically adequate recordings of the mitral orifice were obtained in 20 patients (77%).

Infarct-induced wall motion abnormalities in aortocoronary bypass patients: Correlation with electrocardiographic, enzymatic, and scintigraphic diagnostic criteria.

Gated isotope ventriculograms performed 7 to 12 days postoperatively in 50 aortocoronary bypass patients with perioperative myocardial infarction (POMI) were compared with preoperative contrast ventriculograms. The diagnosis of POMI was based on serial electrocardiograms (EKGs), cardiac enzyme studies, and (99m)Tc-pyrophosphate (PYP) scintigraphy. Seven patients exhibited no new regional wall motion abnormalities.

Two-dimensional echocardiography in the diagnosis of unusual left atrial myxomas.

In two patients with atypical myxomas of the left atrium, two-dimensional echocardiography furnished valuable diagnostic information. In one patient, who had previously developed an embolism at the right brachial artery, M-mode echocardiography revealed an abnormal band of echoes within the left atrium. Two-dimensional echocardiography showed a globular cluster of echoes that remained within the left atrial cavity throughout the cardiac cycle; left ventricular angiography confirmed the ultrasonic findings of an intraatrial mass.

Left ventricular function early after aortic valve replacement for aortic regurgitation: Assessment by gated radionuclide ventriculography.

This study characterizes left ventricular performance early after aortic valve replacement for severe isolated aortic regurgitation. Gated radionuclide ventriculography studies in 13 patients showed that left ventricular end-diastolic volume was reduced after surgery and that ejection fraction dropped significantly. Despite the fall in ejection fraction, the postoperative cardiac index was significantly greater than the preoperative value.

ECHO-PHONOCARDIOGRAPHIC CHARACTERISTICS OF THE NORMALLY FUNCTIONING COOLEY-CUTTER MITRAL VALVE PROSTHESIS.

Echocardiographic and phonocardiographic records of 19 patients with a normally functioning Cooley-Cutter mitral valve were analyzed in order to provide quantitative baseline values for this prosthesis. The average duration between the second heart sound and peak opening of the valve (A(2)-OC interval) was 83 +/- 4 (standard error of the mean) msec. The Q-CC interval (from the electrocardiographic Q wave to closure of the valve) was 71 +/- 2 msec.