A high-resolution comparative map of porcine chromosome 4 (SSC4).

We used the IMNpRH2(12,000-rad) RH and IMpRH(7,000-rad) panels to integrate 2019 transcriptome (RNA-seq)-generated contigs with markers from the porcine genetic and radiation hybrid (RH) maps and bacterial artificial chromosome finger-printed contigs, into 1) parallel framework maps (LOD ≥ 10) on both panels for swine chromosome (SSC) 4, and 2) a high-resolution comparative map of SSC4, thus and human chromosomes (HSA) 1 and 8. A total of 573 loci were anchored and ordered on SSC4 closing gaps identified in the porcine sequence assembly Sscrofa9. Alignment of the SSC4 RH with the genetic map identified five microsatellites incorrectly mapped around the centromeric region in the genetic map. Further alignment of the RH and comparative maps with the genome sequence identified four additional regions of discrepancy that are also suggestive of errors in assembly, three of which were resolved through conserved synteny with blocks on HSA1 and HSA8.

High-resolution comprehensive radiation hybrid maps of the porcine chromosomes 2p and 9p compared with the human chromosome 11.

We are constructing high-resolution, chromosomal 'test' maps for the entire pig genome using a 12,000-rad WG-RH panel (IMNpRH2(12,000-rad))to provide a scaffold for the rapid assembly of the porcine genome sequence. Here we present an initial, comparative map of human chromosome (HSA) 11 with pig chromosomes (SSC) 2p and 9p. Two sets of RH mapping vectors were used to construct the RH framework (FW) maps for SSC2p and SSC9p. One set of 590 markers, including 131 microsatellites (MSs), 364 genes/ESTs, and 95 BAC end sequences (BESs) was typed on the IMNpRH2(12,000-rad) panel. A second set of 271 markers (28 MSs, 138 genes/ESTs, and 105 BESs) was typed on the IMpRH(7,000-rad) panel. The two data sets were merged into a single data-set of 655 markers of which 206 markers were typed on both panels. Two large linkage groups of 72 and 194 markers were assigned to SSC2p, and two linkage groups of 84 and 168 markers to SSC9p at a two-point LOD score of 10. A total of 126 and 114 FW markers were ordered with a likelihood ratio of 1000:1 to the SSC2p and SSC9p RH(12,000-rad) FW maps, respectively, with an accumulated map distance of 4046.5 cR(12,000 )and 1355.2 cR(7,000 )for SSC2p, and 4244.1 cR(12,000) and 1802.5 cR(7,000) for SSC9p. The kb/cR ratio in the IMNpRH2(12,000-rad) FW maps was 15.8 for SSC2p, and 15.4 for SSC9p, while the ratio in the IMpRH(7,000-rad) FW maps was 47.1 and 36.3, respectively, or an approximately 3.0-fold increase in map resolution in the IMNpRH(12,000-rad) panel over the IMpRH(7,000-rad) panel. The integrated IMNpRH(12,000-rad) andIMpRH(7,000-rad) maps as well as the genetic and BAC FPC maps provide an inclusive comparative map between SSC2p, SSC9p and HSA11 to close potential gaps between contigs prior to sequencing, and to identify regions where potential problems may arise in sequence assembly.

Investigating the genetic basis of pork tenderness: genomic analysis of porcine CAST.

A quantitative trait locus (QTL) affecting pork tenderness was recently detected within the Illinois Meat Quality Pedigree (IMQP) and fine-mapped to the region of porcine chromosome 2 (SSC2) harbouring the functional candidate gene calpastatin (CAST). To identify molecular variation that may underlie the observed differences in tenderness phenotypes, we characterized the porcine CAST gene and analysed allelic variation within the F(1) boars of the IMQP. The complete genomic sequence of porcine CAST has been determined, and was found to contain 35 exons spanning nearly 123 kb. Using the rapid amplification of cDNA ends (RACE) method, calpastatin transcript types I-III, as well as a putative novel transcript type, were detected within porcine skeletal muscle. Variability in transcription initiation and termination sites was observed, and alternative splicing of exons 1y and 3 was evident. Nearly 77.6% of the CAST gene, including all exons, was re-sequenced from each of six IMQP F(1) boars, and almost 900 polymorphisms were identified. The heterozygosity of nearly 400 polymorphisms appeared to be concordant with the previous QTL data, and the location of this variation within the CAST gene suggests that a causative mutation is likely to be regulatory. Functional characterization of CAST variation should enhance understanding of the molecular basis of pork tenderness, and thus allow for genetic improvement of pork products. The effectiveness of CAST polymorphisms for marker-assisted selection of pork tenderness can now be assessed.

Right atrial myxoma with right to left shunting and mitral valve prolapse.

A 58 year old black man presented with progressive dyspnea and persistent systemic arterial hypoxemia. Initial hemodynamic evaluation revealed mitral valve prolapse and evidence for isolated right to left shunting, presumed to be extracardiac. A detailed pulmonary evaluation disclosed normal volume and flow parameters with a mild reduction of the single breath carbon monoxide diffusing capacity. An open lung biopsy disclosed no abnormalities. Radionuclide studies of the heart, however, suggested the possibility of a filling defect in the right atrium, and echocardiography enforced the impression of a mass in the right atrium, subsequently demonstrated by superior vena cava angiography. Our report outlines the use of multiple diagnostic tools in difficult situations and stresses the importance of right atrial myxoma in the differential diagnosis of isolated right to left shunting

A case of myocardial abscess evaluated by radionuclide techniques: case report.

A patient with infective endocarditis was evaluated by Ga-67 citrate imaging, Tc-99m pyrophosphate imaging, equilibrium gated blood pool imaging, and Tl-201 imaging of the chest. The diagnosis of ventricular abscess was first suggested by an abnormal gallium scan. At surgery, an abscess was identified in the area where the scan was abnormal, and postoperatively a repeat scan was normal.

Comparison of immediate and in-hospital results of conventional balloon and perfusion balloon angioplasty using intracoronary ultrasound.

Angiographic studies have demonstrated that perfusion balloon percutaneous transluminal coronary angioplasty (PTCA) may result in modestly improved luminal gains and fewer major dissections than conventional balloon PTCA. However, intracoronary ultrasound (ICUS), which is more sensitive than angiography in evaluating the incidence, extent, and severity of dissection, was not used. We randomized 48 patients with 54 coronary stenoses to conventional or perfusion balloon PTCA. Four 2-minute inflations were permitted with conventional balloon PTCA. Two 10-minute inflations were allowed with perfusion balloon PTCA. Quantitative coronary angiography and ICUS were performed before and after treatment. In-hospital clinical events were recorded. Conventional and perfusion balloon PTCA achieved similar improvements in lumen diameter (1.25+/-0.51 vs 1.28+/-0.51 mm) and reductions in percent stenosis (-45+/-21% vs -44+/-15%) by quantitative coronary angiography. Comparable gains in lumen diameter (0.62+/-0.39 vs 0.50+/-0.38 mm) and lumen area (2.70+/-1.96 vs 2.05+/-1.52 mm2) were observed on ICUS. Angiography demonstrated similar rates of any dissection (36% vs 21%) and major dissection (12% vs 7%). ICUS identified a similar incidence of any dissection (60% vs 76%) and type II dissection (52% vs 62%). The relative dissection area was also similar (9.2+/-5.6% vs 7.8+/-5.8%). One conventional balloon patient experienced postprocedural chest pain. No patient in either group died, or had myocardial infarction, abrupt closure, or urgent revascularization.

Comparative study of warfarin versus antiplatelet therapy in patients with a St. Jude Medical valve in the aortic position.

To determine the necessity of long-term warfarin anticoagulation after St. Jude Medical aortic valve replacement in adults, we evaluated the risks of thromboembolism, valve thrombosis, anticoagulant hemorrhage, and sudden cardiac death in two groups of patients. Group I consisted of 41 patients treated with conventional long-term warfarin therapy. Forty-two patients in Group II were treated primarily with antiplatelet therapy (aspirin, dipyridamole, or both); 17 of these patients received warfarin for a short time postoperatively and seven others received it intermittently during the study period. The groups were similar with respect to age, sex, associated cardiovascular disease, and length of follow-up (mean 29 months per patient). In the warfarin-treated group, three late sudden deaths occurred, one of which was preceded by a cerebrovascular accident, for a cardiac mortality of 2.7% per patient-year. There were eight major nonfatal complications (7.3% per patient-year), of which four were hemorrhagic and four embolic. In Group II, there was one sudden cardiac death (1.1% per patient-year) and four major complications occurred (3.2% per patient-year). Two of the complications were embolic and two were episodes of valve thrombosis, both necessitating reoperation. Although the incidence of serious morbidity in the warfarin-treated group was twice that of patients treated with antiplatelet therapy, there were no statistically significant differences in the rates of sudden death or major complications. These data suggest that antiplatelet therapy may be as effective as warfarin in preventing embolism from the St. Jude Medical valve in the aortic position. Valve thrombosis occurred in two patients, both receiving antiplatelet therapy (2.2% per patient-year). Whether this type of valve failure can be prevented by warfarin remains in question.

Early and long-term improvement in left ventricular performance following coronary bypass surgery.

Changes in left ventricular performance after coronary artery bypass grafting (CABG) have been variable. Earlier studies based on contrast left ventriculography have shown occasional improvement in left ventricular function in patients with unstable angina or abnormal preoperative ventricular performance, but for the most part repeat cardiac catheterization several months after operation has shown no significant changes in global left ventricular contraction. In the past few years, advances in radiopharmaceutical technology have made the characterization of left ventricular wall motion accurate and highly reproducible. Since prognosis in patients with coronary artery disease and survival after CABG have been related to global ejection fraction (EF), we employed prospectively on analysis of short-term and long-term changes in EF after CABG utilizing multidose hypothermic potassium crystalloid cardioplegia as the method of myocardial protection. Concomitantly, newer techniques in anesthesia and perioperative patient management were employed to minimize myocardial damage in these patients. Postoperative scintigraphic evaluation showed a transient (2-hour) depression in left ventricular function, followed by recovery to preoperative levels at 24 hours and significant improvement in EF at 7 days. From 7 days to 8 months postoperatively, there was no further change in resting EF, but there was another significant exercise-induced increase in EF at the long-term examination. Thus, present advances in the multidisciplinary management of patients with coronary artery disease are associated with improvement in resting and exercise-related EF postoperatively.

Coronary embolism following atrial septal defect repair.

To our knowledge, coronary embolism following repair of atrial septal defect has not been reported previously. A 29-year-old woman had an angiographically documented embolus to the circumflex coronary artery on the fifth postoperative day after pericardial patch repair of a secundum atrial septal defect. This complication might have been prevented by temporary postoperative anticoagulation.

Pulmonary artery balloon counterpulsation for right ventricular failure: II. Clinical experience.

The use of pulmonary artery balloon counterpulsation (PABC) provided immediate salvage following cardiac surgical procedures in 2 patients with biventricular failure in whom inotropic drugs and intraaortic balloon counterpulsation did not provide sufficient support to allow weaning from cardiopulmonary bypass. Although both patients eventually died, the hemodynamic effectiveness of PABC was documented. The various clinical settings for right ventricular as well as biventricular failure are reviewed, the currently available options for treatment are summarized, and the directions for future laboratory investigation and possible clinical applications are presented.

Plaque and structural characteristics of the descending thoracic aorta using transesophageal echocardiography.

The in vivo acoustic and structural characteristics of atherosclerosis in the descending thoracic aorta have not been well delineated. We prospectively evaluated the descending thoracic aorta of 147 patients (35 women and 112 men; age, 61 +/- 14 years) who underwent clinically indicated transesophageal echocardiography. Patients with suspected disease of the aorta were excluded. Thirty-eight patients (26%) had protruding plaques (men, 25%; women, 29%). Six patients had mobile intimal densities with the mobile area ranging up to 1 cm2. As expected, aortic lumen area was decreased (plaque-free, 3.53 cm2; plaque, 3.19 cm2; p less than 0.05) and wall area was increased (plaque-free, 1.51 cm2; plaque, 1.92 cm2; p less than 0.05) in the regions of the plaque. However, total arterial area was not increased (plaque-free, 5.04 cm2; plaque, 5.09 cm2; difference not significant) in a compensatory manner as observed in other arterial beds. Plaque gray scale was less than the gray scale of plaque-free wall (plaque-free, 141.2; plaque, 122.7; p less than 0.05) when compared at the same level of the descending thoracic aorta or with a second aortic plaque-free level (plaque-free, 150.4; plaque, 122.7; p less than 0.05). Standard deviation of gray scale level was similar between plaque and normal regions. Unsuspected protruding plaques in the descending thoracic aorta occurred in one quarter of the patients referred for routine transesophageal examination. Plaques tended to have lower echogenicity and were differentiated from plaque-free walls within patients. Plaque formation did not result in increased total arterial area. These data suggest that the degree or character of compensatory atherosclerotic remodeling in the highly elastic descending thoracic aorta may differ from other arterial beds.

A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.

Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species.

Intracardiac injections during cardiopulmonary resuscitation. A low-risk procedure.

Fifty-three patients were observed prospectively for the development of complications resulting from 147 intracardiac injections (ICIs) received during cardiopulmonary resuscitation (CPR). Although pericardial effusion was noted in six of 17 echocardiograms and a hemopericardium found in eight of 28 autopsies, cardiac tamponade was not observed. A pneumothorax developed in one patient. None of the autopsies disclosed coronary artery or ventricular lacerations. Percutaneous puncture of the heart during CPR seldom results in serious complications. When other sites are not readily available, ICIs are safe and valid for the administration of emergency medication.

Effects of beta-adrenergic and calcium antagonists on the development of anaphylactoid reactions from radiographic contrast media during cardiac angiography.

Anaphylactoid reactions (ARs) occurring in patients receiving propranolol have been described as unusually severe and having a "sluggish" response to epinephrine. Although the mechanism of ARs to iodinated radiographic contrast media is not IgE mediated, because of widespread use of beta-adrenergic blocking agents, we undertook a prospective study to determine the incidence of AR to radiographic contrast media during cardiac angiography. Nine hundred fifty-two consecutive patients were divided into four groups according to concomitant chronic medications. Group I (447 patients) were receiving no beta-adrenergic blocking agents or calcium antagonists. Group II (216 patients) were receiving a beta-adrenergic blocking agent. Group III (147 patients) were receiving a calcium antagonist but not a beta-adrenergic blocking agent. Group IV (142 patients) were receiving both a calcium antagonist and a beta-adrenergic blocking agent. The reaction rates, respectively, in the four groups were 4.47%, 7.41%, 5.44%, and 4.93%. The rates of ARs were not associated with the use of concomitant medications in any of the groups (chi 2 = 2.531; p = 0.47). The probability of a type II error in comparison of groups I and II was 0.75 should the true incidence of reactions in patients receiving beta-adrenergic antagonists be 7.41%. No difference in the incidence of AR was observed between patients taking selective and nonselective beta-adrenergic blocking agents in group II. Specific ARs occurring in patients receiving beta-adrenergic blocking agents were usually mild and often without need for specific pharmacotherapy.