Transcatheter Versus Surgical Aortic Valve Replacement in Patients With Prior Cardiac Surgery in the Randomized PARTNER 2A Trial

Objectives

The aim of this study was to further evaluate clinical outcomes in patients with and without PCS.

Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages

Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs). Previous studies examined the role of FV-Leiden and PRT G20210A in recurrent pregnancy loss with conflicting results. Here we examined the prevalence of FV Leiden and PRT G20210A SNPs, in 200 women with 3 or more consecutive early (n = 87), late (n = 41), or early-late (n = 72) recurrent pregnancy losses, and 200 age-matched fertile parous control women. APC resistance (APCR) was detected functionally (measuring the activated clotting time triggered by activated factor X in presence of a fixed amount of purified APC), and FV-Leiden and PRT G20210A genotypes were assessed by PCR. The frequency of the mutant FV (0.1400 vs. 0.0276; P < 0.001) but not PRT 20210 (0.0100 vs. 0.0225; P = 0.159) allele was higher in patients than controls, respectively. APC resistance with factor V Leiden was seen in 27% of patients compared to 11.5% of controls, while APC resistance without factor V Leiden was seen in 12.5% of patients compared to 9.5% of controls. Regression analysis demonstrated that the significant predictors for early abortion was FV Leiden; those for late abortion were oral contraceptive, APCR, and FV Leiden; and predictors for early-late abortions were oral contraceptives, obesity, FV Leiden, and smoking. APC resistance and FV Leiden, as well as combination of both, are common thrombotic defects seen in women with idiopathic recurrent pregnancy loss, thus testing for these is recommended in women who have experienced recurrent miscarriages.     

Ventilator use by emergency medical services during 911 calls in the United States

Background

Emergency and transport ventilators use in the prehospital field is not well described. This study examines trends of ventilator use by EMS agencies during 911 calls in the United States and identifies factors associated with this use.

Prevalence of Asthma,Allergic Rhinitis and Eczema among Lebanese Adolescents

Objective. Studies on allergic diseases remain scarce in Lebanon. The aim of the present study was to determine prevalence and characteristics of asthma, allergic rhinitis and eczema among Lebanese school children. Methods. The study was cross-sectional in design performed on a convenient sample of 3,115 students (13–14 yr) selected from 13 schools in 5 Lebanese provinces. Students were asked to complete the Arabic version of the International Study of Asthma and Allergies in Childhood questionnaire. Logistic regression was performed to assess the characteristics of having asthma, allergic rhinitis and eczema in the past year. Results. The prevalence of ever having asthma, rhinitis and eczema was 8.3%, 45.2% and 12.8% respectively, while the prevalence of the symptoms of these diseases in the past year was 24.1%, 38.6% and 20.9%, respectively. Residing in the South and the North provinces of Lebanon and living in a busy area increased the likelihood of developing asthma and rhinitis. Higher rates of asthma and eczema, however, was noted among students going to private schools (Odds Ratio (OR) = 1.6, 95% confidence interval (CI): 1.3–2.1 and OR = 1.3, 95% CI: 1.0–1.7, respectively). Passive smoking was significantly associated with asthma only (OR = 1.3, 95% CI: 1.1–1.7). In addition to the above, the odds of having any of the three outcomes increases to at least 2.4-fold when accompanied by another allergic disease. Conclusions. Allergic diseases are highly prevalent in Lebanon and are catching up with the rates of developed countries. Moreover, the role of each of the three diseases in the existence of the other two had the greatest impact on their prevalence.     

Carbon dioxide embolism during endoscopic vein harvesting

Endoscopic vein harvesting (EVH) is becoming common for the patients undergoing coronary artery bypass grafting. Using carbon dioxide insufflations during the vein harvest can produce rare but catastrophic CO(2) embolism. We report a case of massive right atrial CO(2) embolism due to femoral vein injury which occurred during the performance of a routine EVH procedure.     

Metastatic carcinoma to the cervical nodes from an unknown head and neck primary site: Is there a need for neck dissection?

BACKGROUND: The aim of the study was to evaluate the outcomes and patterns of failure in patients with metastatic carcinoma to cervical lymph nodes from an unknown head and neck primary origin, who were treated curatively with radiotherapy, with or without neck dissection. METHODS: The study included 61 patients referred to the McGill University Hospital Centers from 1987 to 2002. The median age was 57 years, with male to female ratio of 4:1. Distribution of patients by N status was as follows: N1, 16 patients (26%); N2a, 18 (30%); N2b, 13 (22%); N2c, 7 (11%); and N3, 7 (11%). Twenty patients underwent neck dissection (11 radical, 9 functional) and 41 patients had biopsy (9 fine-needle aspiration and 32 excisional biopsy). All patients received radiotherapy. The median dose to the involved node(s) was 64 Gy, and 60 Gy to the rest of the neck. Treatment of the neck was bilateral in 50 patients (82%) and ipsilateral in 11 (18%). The minimum duration of the follow-up was 12 months, with the median of 32 months. RESULTS: The 5- and 8-year overall survival for the whole population was 79% and 67%, respectively. There was no statistically significant difference in the 8-year actuarial overall survival (64.8% and 67.6%, respectively, p = .64) and local relapse-free survival (75% vs 74.5%, respectively, p = .57), among patients who had biopsy versus those who had neck dissection. CONCLUSION: In our experience, definitive radiotherapy to the neck and the potential mucosal sites, whether preceded by neck dissection or not, is effective to achieve a good local control rate in the unknown primary cancer of the head and neck. The indication for neck dissection, in particular for early nodal stage, is controversial.     

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

Deletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, implying that genomic instability plays a role in the prevalence of the syndrome. Here, we report two siblings with mild phenotypic features of the deletion syndrome, including developmental delay, hearing loss, and left ventricular non-compaction (LVNC). Microarray analysis using bacterial artificial chromosome and oligonucleotide microarrays indicated the deletions were identical, suggesting germline mosaicism. Parental phenotypes were normal, and analysis by fluorescence in situ hybridization (FISH) did not show mosaicism. These small interstitial deletions were not detectable by conventional subtelomeric FISH analysis. To investigate the mechanism of deletion further, the breakpoints were cloned and sequenced, demonstrating the presence of a complex rearrangement. Sequence analysis of genes in the deletion interval did not reveal any mutations on the intact homologue that may have contributed to the LVNC seen in both children. This is the first report of apparent germline mosaicism for this disorder. Thus, our findings have important implications for diagnostic approaches and for recurrence risk counseling in families with a child with monosomy 1p36. In addition, our results further refine the minimal critical region for LVNC and hearing loss.     

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

Genomic disorders contribute significantly to genetic disease and, as detection methods improve, greater numbers are being defined. Paralogous low copy repeats (LCRs) mediate many of the chromosomal rearrangements that underlie these disorders, predisposing chromosomes to recombination errors. Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs. Immediately distal to this region, there are another four related but smaller LCRs that have not been characterized extensively. We used paralog-specific primers and long-range PCR to clone, sequence, and examine the distal deletion breakpoints from two patients with de novo deletions mapping to these distal LCRs. Our results present definitive evidence of the direct involvement of LCRs in 22q11 deletions and map both breakpoints to the BCRL module, common to most 22q11 LCRs, suggesting a potential region for LCR-mediated rearrangement both in the distal LCRs and in the DGS interval. These are the first reported cases of distal 22q11 deletions in which breakpoints have been characterized at the nucleotide level within LCRs, confirming that distal 22q11 LCRs can and do mediate rearrangements leading to genomic disorders.