ABSTRACT
Lymphangiomatosis (eg, generalized lymphatic anomaly) is an abnormal proliferation of lymphatic endothelial cells. It is often a childhood disease, but it may present in adulthood by infiltrating organs and cause obstruction, bleeding, or disruption of lymphatic flow. Pulmonary involvement may be mild or cause diffuse interstitial lung disease, airway obstruction, hemoptysis, chylothorax, chylopericardium, and culminate in respiratory failure. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy. This report presents a patient with lymphangiomatosis and life-threatening hemoptysis in whom positive immunostaining forc-KITsuggested upregulation of tyrosine kinase and whose disease was controlled with imatinib.
Subject(s)
Antineoplastic Agents/therapeutic use , Imatinib Mesylate/therapeutic use , Lymphangioma/drug therapy , Protein Kinase Inhibitors/therapeutic use , Biopsy , DNA Mutational Analysis , Female , Humans , Lymphangioma/diagnosis , Lymphangioma/genetics , Middle Aged , Positron Emission Tomography Computed Tomography , Retreatment , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
BACKGROUND: Adult respiratory distress syndrome (ARDS) has a high mortality rate and consumes considerable health care resources. It is not clear whether specimens obtained from open lung biopsy (OLB) in ARDS provide a specific diagnosis, alter therapy, or affect outcome. This meta-analysis attempts to determine whether OLB is safe, provides a specific diagnosis, changes therapy, or affects survival. METHODS: A computerized search was performed of Medline and PubMed from January 1988 to December 2012 of English language studies of acute respiratory failure and diffuse pulmonary infiltrates that evaluated OLB in primarily adult mechanically ventilated patients. Of 194 abstracts retrieved, 64 articles were reviewed; 130 articles were excluded because they did not evaluate OLB. After applying the selection criteria, 24 articles were included. RESULTS: OLB in ARDS provided a specific diagnosis in 84% of patients and altered management in 73%. Hospital mortality was 43%. The complication rate for OLB in ARDS was 22%, but death from OLB was rare. CONCLUSIONS: OLB in ARDS is a potentially productive procedure that provides a specific diagnosis and leads to a change in management in high proportions of patients. ARDS has a high mortality rate, which OLB does not appear to increase. Owing to a lack of randomized controlled trials, a survival advantage of OLB in ARDS could not be demonstrated.
Subject(s)
Lung/pathology , Respiratory Distress Syndrome/pathology , Biopsy , HumansABSTRACT
To better understand the genetic basis of essential hypertension, we conducted a quantitative trait locus (QTL) analysis of a population of 207 (BALB/cJ x CBA/CaJ) F(2) male mice to identify genomic regions that regulate blood pressure, heart rate, and heart weight. We identified two loci, Bpq6 (blood pressure quantitative locus 6) on chromosome 15 (Chr 15; peak, 16 cM; 95% confidence interval, 0-25 cM) and Bpq7 on Chr 7 (peak, 42 cM; 95% confidence interval, 35-50 cM) that were significantly associated with blood pressure. We also identified two loci, Hrq1 (heart rate quantitative locus 1) and Hrq2, on D2Mit304 (peak, 72 cM; 95% confidence interval 60-80 cM) and D15Mit184 (peak, 25 cM; 95% confidence interval 20-35 cM), respectively, that were significantly associated with heart rate. A significant gene-gene interaction for heart rate was found between Hrq1 and D1Mit10 (peak, 57 cM; 95% confidence interval, 45-75 cM); the latter QTL was named Hrq3. We identified a significant locus for heart weight, Hwq1 (heart weight quantitative locus 1), at D14Mit67 (peak, 38 cM; 95% confidence interval, 20-43 cM). Identification of the genes for these QTL should lead to a better understanding of the causes of essential hypertension.
