Anomalous origin of the left coronary artery. A twenty-year review of surgical management.

Children with anomalous origin of the left coronary artery from the pulmonary artery are at risk for myocardial infarction and death. Surgical management of this condition in children has evolved significantly during the past 20 years. Between 1970 and 1990, a total of 20 of these patients underwent surgical intervention at two institutions. Age at operation ranged from 3 weeks to 11 years (mean, 26 months). Twelve patients had congestive heart failure, three were in cardiogenic shock, and two had cardiac murmurs. Operative techniques included ligation (n = 9), subclavian artery anastomosis (n = 5), aortic implantation (n = 3), internal mammary artery anastomosis (n = 1), intrapulmonary tunnel from aortopulmonary window to coronary artery (n = 1), and cardiac transplantation (n = 1). The three deaths in the series occurred at 3 weeks, at 2 months, and at 9 years after ligation. There have been no deaths after establishment of a two coronary artery system or after transplantation. Two of the five patients who had subclavian artery anastomosis to the anomalous coronary artery have severe anastomotic stenosis and collateralization. For patients with anomalous origin of the left coronary artery from the pulmonary artery, we recommend direct aortic implantation of the anomalous coronary artery at the time of diagnosis. Intrapulmonary tunnel from aortopulmonary window to coronary artery, or aorta-coronary bypass with internal mammary artery are recommended for children in whom aortic implantation is not anatomically feasible. Left coronary artery ligation is not indicated for these patients; those who have survived ligation should be considered for elective establishment of a two coronary artery system because of the risk of late death.     

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss

Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting for approximately 80% of cases of genetic deafness. To date, 22 genes implicated in ARNSHL have been identified. Recently a gene, DFNB31/WHRN, which encodes a putative PDZ scaffold protein called whirlin, was found to be responsible for the ARNSHL DFNB31. We found evidence for linkage to the DFNB31locus in a consanguineous Tunisian family segregating congenital profound ARNSHL. Mutation screening of DFNB31/WHRNrevealed four nonpathogenic sequence variants and a novel frameshift mutation [c.2423delG] + [c.2423delG] that changed the reading frame and induced a novel stop codon at amino acid 818 ([p.Gly808AspfsX11] + [p.Gly808AspfsX11]). To determine the contribution of the DFNB31locus in the childhood deafness, we performed linkage analysis in 62 unrelated informative families affected with ARNSHL. No linkage was found to this locus. From this study, we concluded that DFNB31/WHRN is most likely to be a rare cause of ARNSHL in the Tunisian population.     

Anti-soluble liver antigen (SLA) antibodies in chronic HCV infection

Hepatitis C infection is associated with autoimmune disorders, such as the production of autoantibodies. Anti-LKM1 and anti-LC1, immunomarkers of type 2 autoimmune hepatitis, have been previously associated with a HCV infection. Anti-Soluble-Liver-Antigen autoantibodies (SLA) are specifically associated with type 1 and type 2 autoimmune hepatitis and more closely related to patients who relapse after steroid therapy. The recent molecular cloning of the soluble liver antigen provides the opportunity to develop more specific tests for the detection of antibodies against it. The aim of this work is to characterize anti-soluble-liver autoantibodies in sera from patients chronically infected by HCV. A recombinant cDNA from activated Jurkat cells coding for the full length tRNP(Ser)Sec/SLA antigen was obtained. ELISA, Western Blot and immunoprecipitation tests were developed and used to search for linear and conformational epitopes recognized by anti-SLA antibodies in sera from patients chronically infected by HCV. Anti-soluble liver antigen antibodies were found in sera from 10.4% of HCV-infected patients. The prevalence was significantly increased to 27% when anti-LKM1 was also present. Most anti-SLA reactivity was directed against conformational epitopes on the antigen. The means titers by ELISA were lower than those obtained in type 2 AIH. The result of autoantibody isotyping showed a subclass restriction to IgG1 and also IgG4. This study shows the presence of anti-SLA antibodies in approximately 10% of HCV infected patients. The prevalence of SLA autoantibodies in HCV infected patients increases when LKM1 autoantibodies are also present. The relationship between the prevalence of this characteristic autoimmune hepatitis autoantibody and the implication of an autoimmune phenomenon in the liver injury of patients chronically infected by HCV needs further investigation.     

Radioquimioterapia de la enfermedad limitada del carcinoma pulmonar de célula pequeña. ¿Tratamiento concomitante en protocolos asistenciales?

Purpose We retrospectively reviewed our institution’s database to investigate the outcome and impact of combined radiochemotherapy (RT/CT; concomitant or in sequence) in localised small-cell lung cancer (L-SCLC). Material and methods Between January 1995 to November 1999, 79 patients with L-SCLC received combined RT/CT at our Institution. RT was delivered concurrently or sequentially following the CT. Patients with treatment response received additional prophylactic cranial irradiation (PCI). Results Of the patients treated, 54% had received concurrent CT/RT compared to 46% receiving RT following the CT. PCI was administered to 80% of the patients. Complete response was observed in 66% of patients. With a median follow up of 30 months, median overall survival was 15.9 months; 14.3 months for patients who received RT following CT and 21.6 months for those receiving concurrent CT/RT. The type of schedule of combined radiochemotherapy was an independent prognostic factor for survival free of local recurrence, as was additional PCI for distant metastasis-free survival. Conclusions Our results are similar to those reported previously in the literature. The main point of interest is that our patients were non-selected. We strongly support the use of concurrent CT/RT so as to achieve results comparable to the best in the literature.

     

Anti-C1q antibodies and systemic lupus erythematosus in the Tunisian population

ObjectivesThe presence of a wide variety of autoantibodies is a characteristic feature of systemic lupus erythematosus (SLE). Although non-specific, anti-complement C1q (anti-C1q) were shown to correlate with the occurrence of active nephritis. The present study aimed to investigate the prevalence of anti-C1q in Tunisian SLE patients and their association with clinical manifestations, especially renal involvement.Patients and methodsIgG anti-C1q antibodies were assessed by Elisa in 98 SLE patients, 55 patients with rheumatoid arthritis (RA) and 65 healthy individuals (HI).ResultsAnti-C1q were found in 53 (54.1%) patients with SLE, three (5%) patients with RA and six (9.3%) HI. Among the 65 patients with renal involvement, anti-C1q were present in 35 (53.8%) patients. There was no significant association between anti-C1q and renal or extrarenal manifestations. In addition, there was no correlation between anti-C1q titer and SLEDAI index. Anti-C1q were significantly associated with anti-nucleosome (P = 0.001), anti-Sm (P = 0.01) and a low C4 level (P = 0.046). Concomitant presence of anti-C1q and anti-dsDNA antibodies was not associated with renal manifestations.ConclusionOur study shows that prevalence of anti-C1q was comparable with that previously reported in Caucasian populations. These antibodies were associated with a low C4 level. However, there was no association between anti-C1q and renal involvement or severity of nephritis.     

The Mechanisms of Mindfulness in the Treatment of Mental Illness and Addiction

Consistent with its growing popularity amongst the general public and medical community, throughout recent decades there have been increasing attempts to understand the mechanisms that underlie therapeutic improvement in individuals receiving mindfulness training. The current paper draws upon findings from various remits of scientific enquiry and summarises key evidence-based mechanisms of mindfulness that have been proposed in the academic literature to date. Empirical findings indicate that mindfulness targets biological, psychological, social, and spiritual psychopathology determinants. Furthermore, the mechanistic pathways exploited by mindfulness are likely to vary according to factors such as (i) the type of mindfulness-based intervention that is administered (e.g., first- or second-generation mindfulness-based interventions), (ii) the specific clinical disorder that is being targeted, (iii) the educational, social, and spiritual history of the participant, and (iv) the extent to which the mindfulness instructor truly embodies the principles of mindful living. It is hoped that the mechanisms of mindfulness discussed in this paper will contribute to the formulation of a more complete picture that can be tested and expanded upon during future scientific enquiry.     

Influence of conduction disturbances on clinical outcome in patients with acute myocardial infarction receiving thrombolysis (results from the ARGAMI-2 study)

Right bundle branch block and complete atrioventricular (AV) block are conduction disorders (CDs) that have been observed in 14% of patients admitted with ST-elevation acute myocardial infarction. CDs carry a poor prognosis, with a threefold increase in the mortality rate, mainly due to cardiogenic shock and recurrent fatal myocardial infarction at 1-year follow-up. According to multivariable analysis, CD was the second strongest predictor of death, after high Killip class. Compared with patients without CD, the 1-year outcome of patients with CD was identically worse, irrespective of whether CD appeared during admission, disappeared, or remained constant. Similar adverse outcomes were seen in patients with complete AV block and right bundle branch block.