ABSTRACT
In debates about genetic testing of children, as well as about disclosing unsolicited findings (UFs) of pediatric exome sequencing, respect for future autonomy should be regarded as a prima facie consideration for not taking steps that would entail denying the future adult the opportunity to decide for herself about what to know about her own genome. While the argument can be overridden when other, morally more weighty considerations are at stake, whether this is the case can only be determined in concrete cases. Importantly, when children grow into adolescents, respect for future autonomy will have to give way to respecting their emerging autonomy. When pediatric exome sequencing is done for complex conditions not involving developmental delay, respect for the child's future or emerging autonomy should be a primary consideration for those charged with deciding on behalf of the child. Building on what Emanuel and Emanuel have termed the 'deliberative model' of shared decision making, we argue that if parents fail to give these considerations their due, professionals should actively invite them to do so. Taking a directive stance may be needed in order to make sure that the future or emerging autonomy of the child are duly considered in the decision-making process, but also to help the parents and themselves to shape their respective roles as responsible care-givers.
Subject(s)
Decision Making, Shared , Exome , Adolescent , Child , Decision Making , Female , Genetic Testing , Humans , Male , ParentsABSTRACT
We created a registry to evaluate long term outcome, efficacy and adverse events for children treated wit TNF-alpha inhibitors in Switzerland. 106 patients (68 female/38 male) were included. 61 patients were treated with Etanercept (Enbrel) and 45 with Infliximab (Remicade). Concomitant treatment at baseline included corticosteroids in 26% and Methotrexate in 75% of the patients. Subjective disease activity three months after initiation of TNF-alpha was better in 81%, worse in 4% and stable in 15% of the patients. In total 24 adverse events in 21 patients were reported. Treatment with TNF-alpha inhibitors seems to be safe and effective for children and adolescents with rheumatologic diseases.
Subject(s)
Antibodies, Monoclonal/therapeutic use , Antirheumatic Agents/therapeutic use , Immunoglobulin G/therapeutic use , Receptors, Tumor Necrosis Factor/therapeutic use , Registries , Rheumatic Diseases/drug therapy , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Adolescent , Adverse Drug Reaction Reporting Systems , Antibodies, Monoclonal/adverse effects , Antirheumatic Agents/adverse effects , Arthritis, Juvenile/drug therapy , Child , Drug Interactions , Drug Therapy, Combination , Etanercept , Humans , Immunoglobulin G/adverse effects , Infliximab , Product Surveillance, Postmarketing , Switzerland , Treatment Outcome , Uveitis/drug therapyABSTRACT
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease expression. The genotype-phenotype correlation for the 3905insT mutation in comparison to deltaF508 was studied here. Thirty CF patients compound heterozygous for 3905insT were compared to clinical presentation of matched patients homozygous for deltaF508 (1960-1997). Sweat tests, age at diagnosis, at death and at onset of Pseudomonas aeruginosa colonization were analysed. Chrispin-Norman scores and pulmonary function forced expiratory volume in one second (FEV1) determined severity of lung disease. Twenty-five of the patients with 3905insT had deltaF508 as a second mutation and five had another rare mutation. At the age of 15 yrs, 60% of patients with 3905insT had an FEV1 < 60% predicted in comparison to 25% of patients with deltaF508 (p<0.05). Age at death and cumulative survival rate was significantly lower (p<0.05) in the 3905insT than in the deltaF508 group (20.3 and 24.0 yrs, respectively). Age at onset of P. aeruginosa colonization was not different in the study groups. Sweat chloride concentrations were lower in patients homozygous for deltaF508 (105.63+/-15.3 mmol L(-1)) than in patients with 3905insT (119.9+/-22.1 mmol x L(-1)) (p<0.05). Patients compound heterozygous for 3905insT have similar high morbidity and mortality to patients homozygous for deltaF508.
Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Genetic Carrier Screening , Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Cystic Fibrosis/mortality , Female , Forced Expiratory Volume/genetics , Genotype , Humans , Infant , Male , Phenotype , Pneumonia, Bacterial/genetics , Pneumonia, Bacterial/mortality , Pseudomonas Infections/genetics , Pseudomonas Infections/mortality , Survival Analysis , Vital Capacity/geneticsABSTRACT
An epidemiological study on four farms showed that leptospiral infection became apparent in piglets from 12 weeks of age. The intensity of leptospiruria was greatest in the first 3-4 weeks of infection and from then on declined and became intermittent. Factors affecting the cultural and serological prevalence of infection of the piglets were found to be the standard of hygiene and variations in the titre of the dam. Dams with high titres gave better protection to their young than did those with low titres. The spread of infection within piggeries was encouraged by mixing infected with uninfected pigs, which resulted in epidemics within the pens. Transmission from infected to susceptible grower pigs continuously occurred in grower houses, with a constant proportion of pigs becoming infected each week.
