ABSTRACT
BACKGROUND: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such screening panels. Some cases have been reported with metabolic symptoms in childhood yet other cases describe a benign clinical course, suggesting the clinical phenotype is not well defined. METHODS/CASE REPORT: Clinical and laboratory findings during the prenatal period were obtained retrospectively from medical records. RESULTS: A 37-year-old nulliparous woman and her partner were each identified as carriers of ACSF3 variants and presented at 9 weeks gestation for prenatal genetic consultation. The couple received extensive genetic counseling and proceeded with chorionic villus sampling at 11 weeks gestation. Subsequent analysis confirmed that the fetus inherited both parental ACSF variants. The couple was devastated by the results and after reviewing options of pregnancy continuation and termination, they decided to terminate the pregnancy. Following this decision, the patient was diagnosed with acute stress disorder. CONCLUSION: This case highlights how expanded carrier screening adds complexity to reproductive decision-making. Stronger guidelines and additional research are needed to direct and evaluate the timing, composition, and implementation of ECS panels.
Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Carboxy-Lyases/deficiency , Coenzyme A Ligases/genetics , Genetic Carrier Screening , Metabolism, Inborn Errors/genetics , Adult , Amino Acid Metabolism, Inborn Errors/pathology , Amino Acid Metabolism, Inborn Errors/psychology , Amniocentesis/psychology , Carboxy-Lyases/genetics , Female , Genetic Counseling/psychology , Heterozygote , Humans , Male , Malonyl Coenzyme A/genetics , Metabolism, Inborn Errors/pathology , Metabolism, Inborn Errors/psychology , Methylmalonic Acid , Mutation , Pregnancy , Truth DisclosureSubject(s)
Anemia/prevention & control , Blood Loss, Surgical/physiopathology , Coronary Artery Bypass/methods , Erythrocyte Transfusion/adverse effects , Patient Safety , Aged , Anemia/etiology , Coronary Artery Bypass/adverse effects , Erythrocyte Transfusion/methods , Female , Humans , Intraoperative Care/methods , Male , Middle Aged , Postoperative Care/methods , Risk Assessment , Treatment OutcomeABSTRACT
STUDY DESIGN: Qualitative study using interpretive description methodology. OBJECTIVES: The purpose of this study was to better understand how ethical issues are experienced by university sports team athletic therapists and physical therapists. BACKGROUND: In clinical practice, sports teams are associated with a range of ethical issues. Issues commonly reported in the literature include confidentiality, return-to-play decisions, conflicts of interest, advertising, doping, and use of local anesthetic. To date, there has been limited examination of how athletic therapists and physical therapists involved with sports teams experience these ethical issues, and limited exploration of how these ethical issues, when encountered, are shaped by therapists' professional roles and responsibilities. METHODS: Semi-structured interviews were conducted with 11 athletic or physical therapists working with sports teams in 5 Canadian provinces. The data were analyzed inductively, using a recursive approach and constant comparative techniques. RESULTS: Four key themes were developed relating to the participants' experiences of ethical issues: establishing and maintaining professional boundaries, striving for respectful and effective collaboration, seeking answers to ethical concerns, and living with the repercussions of challenging decisions. CONCLUSION: While many ethical issues reported by participants resemble those faced by sports medicine physicians, they are experienced in distinctive ways, due to differences in professional roles and identities. Issues concerning professional boundaries were also more prominent for the study participants than the literature has reported them to be for sports medicine physicians. Effective communication and enhanced collaboration appear to be key elements in managing these ethical challenges.
Subject(s)
Physical Therapists/ethics , Sports Medicine/ethics , Universities/ethics , Canada , Confidentiality/ethics , Conflict of Interest , Cooperative Behavior , Decision Making , Female , Humans , Male , Professional CompetenceSubject(s)
Cooperative Behavior , Nursing Assistants , Nursing Homes , Nursing Staff , France , Geriatric Nursing , Humans , Quality Assurance, Health CareABSTRACT
The performance of the immunochromatographic assay, SD BIOLINE TB Ag MPT64 RAPID®, was evaluated in Madagascar. Using mouse anti-MPT64 monoclonal antibodies for rapid discrimination between the Mycobacterium tuberculosis complex and nontuberculous mycobacteria, the kit was tested on mycobacteria and other pathogens using conventional methods as the gold standard. The results presented here indicate that this kit has excellent sensitivity (100%) and specificity (100%) compared to standard biochemical detection and can be easily used for the rapid identification of M. tuberculosis complex.
Subject(s)
Bacterial Typing Techniques/methods , Chromatography, Affinity , Mycobacterium tuberculosis/isolation & purification , Nontuberculous Mycobacteria/isolation & purification , Tuberculosis/microbiology , Animals , Antibodies, Monoclonal , Humans , Madagascar , Mice , Mycobacterium tuberculosis/classification , Nontuberculous Mycobacteria/classification , Sensitivity and Specificity , Tuberculosis/diagnosisABSTRACT
The performance of the immunochromatographic assay, SD BIOLINE TB Ag MPT64 RAPID®, was evaluated in Madagascar. Using mouse anti-MPT64 monoclonal antibodies for rapid discrimination between the Mycobacterium tuberculosis complex and nontuberculous mycobacteria, the kit was tested on mycobacteria and other pathogens using conventional methods as the gold standard. The results presented here indicate that this kit has excellent sensitivity (100 percent) and specificity (100 percent) compared to standard biochemical detection and can be easily used for the rapid identification of M. tuberculosis complex.
