Related Articles

Impressions of pharmacogenomic testing among Certified Registered Nurse Anesthetists: a mixed-method study.

Pharmacogenomics. 2016 04;17(6):593-602

Authors: Riddle D, Gregoski M, Baker K, Dumas B, Jenkins CH

Abstract
AIM: Pharmacogenomic testing is useful in helping to predict and explain patient responsiveness to medication. In clinical practice, the use of pharmacogenomic testing has been shown to help reduce adverse drugs events and increase patient satisfaction with their healthcare. Prior to a test being useful, it must have clinical utility. There is a gap in the literature about the perceived clinical utility of pharmacogenomic testing among anesthesia providers.
METHODS: This qualitative-quantitative sequential mixed-method study used focused interviews to formulate probes for a quantitative survey aimed at quantifying the perceptions of anesthesia providers about pharmacogenomic testing.
RESULTS: The results indicate anesthesia providers do not have enough knowledge about pharmacogenomic testing for it to be considered clinically useful in anesthesia practice.
CONCLUSION: Although outcomes data indicate pharmacogenomic testing can help predict outcomes, anesthesia providers do not have enough knowledge and have concerns about the ethical implications of pharmacogenomic testing.

PMID: 27023204 [PubMed - indexed for MEDLINE]

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Thiopurine S-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: a systematic review.

Pharmacogenomics. 2016 04;17(6):633-56

Authors: Roy LM, Zur RM, Uleryk E, Carew C, Ito S, Ungar WJ

Abstract
AIM: Thiopurine S-methyltransferase (TPMT) testing is used in patients receiving thiopurines to identify enzyme deficiencies and risk for adverse drug reactions. It is uncertain whether genotyping is superior to phenotyping. The objectives were to conduct a systematic review of TPMT-test performance studies.
MATERIALS & METHODS: Electronic and grey literature sources were searched for studies reporting test performance compared with a reference standard. Sixty-six eligible studies were appraised for quality.
RESULTS: Thirty phenotype-genotype and six phenotype-phenotype comparisons were of high quality. The calculated sensitivity and specificity for genotyping to identify a homozygous mutation ranged from 0.0-100.0% and from 97.8-100.0%, respectively.
CONCLUSION: Clinical decision-makers require high-quality evidence of clinical validity and clinical utility of TPMT genotyping to ensure appropriate use in patients.

PMID: 27020704 [PubMed - indexed for MEDLINE]

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Related Articles

A rare life-threatening condition: metastasis to the heart.

Am J Emerg Med. 2016 Sep;34(9):1912.e3-4

Authors: Topcu S, Gülcü O, Aksu U, Aksakal E

PMID: 26922641 [PubMed - indexed for MEDLINE]

Autogenic Drainage in Children With Cystic Fibrosis.

Pediatr Phys Ther. 2017 Mar 17;:

Authors: Corten L, Morrow BM

Abstract
PURPOSE: Airway clearance is an essential part of the management of cystic fibrosis (CF) as it facilitates clearance of viscous pulmonary secretions. This review aimed to determine the effect of autogenic drainage (AD) and assisted autogenic drainage (AAD) compared with no, sham, or other types of airway clearance in children with CF.
SUMMARY OF KEY POINTS: Two pediatric randomized cross-over trials were identified on the use of AD in children with CF; no studies were available on the use of AAD. In one study AD had a positive influence on the Huang score, and is preferred over postural drainage in this population.
CONCLUSIONS AND RECOMMENDATIONS: We could not determine the efficacy of AD and AAD in children with CF. We recommend the implementation of pediatric-specific randomized controlled trials with adequate sample sizes, appropriate clinical outcome measures, and analysis of adverse effects.

PMID: 28319489 [PubMed - as supplied by publisher]

Stenotrophomonas maltophilia healthcare-associated infections: identification of two main pathogenic genetic backgrounds.

J Hosp Infect. 2017 Feb 09;:

Authors: Corlouer C, Lamy B, Desroches M, Ramos-Vivas J, Mehiri-Zghal E, Lemenand O, Delarbre JM, Decousser JW, Collège de Bactériologie-Virologie-Hygiène des Hôpitaux de France

Abstract
BACKGROUND: Stenotrophomonas maltophilia is an opportunistic multi-drug-resistant bacterium responsible for healthcare-associated infections. Strategies for in-hospital infection control and management of carriers and environmental reservoirs remain controversial.
AIM: To determine the population structure of S. maltophilia strains in hospitalized infected patients and to identify putative highly pathogenic subpopulations that require upgraded infection control measures.
METHODS: Eighty-three diverse human strains of various clinical origins from 18 geographically distant hospitals were characterized phenotypically and genotypically using a multi-locus sequence typing (MLST) approach.
FINDINGS: Neither a predominant nor emerging sequence type (ST) was identified. Among the 80 typeable strains, only 29% corresponded to described STs, especially ST5 (N=6) and ST4/26/31 (N=2). The ST distribution and the phylogenic tree based on the concatenated MLST genes did not account for geographical, clinical origin or antimicrobial susceptibility clustering. A phylogenic tree that included 173 ST profiles from the MLST database and the 80 typeable strains confirmed the high genetic diversity of S. maltophilia, the previously reported genogroup organization and the predominance of genogroup 6, as it represented 41% (33/80) of the strains. Unexpectedly, genogroup 2 was the second most prevalent genogroup and included 16% (13/80) of the strains. These genogroups represented 57% (20/35) of the strains in respiratory patients and 75% (9/12) of the strains in patients with cystic fibrosis.
CONCLUSION: Beyond MLST, the over-representation of some genogroups among strains responsible for healthcare-associated infections was confirmed. Genogrouping affiliation is recommended to implement infection control measures selectively for the most pathogenic strains isolated from patient or environmental reservoirs.

PMID: 28318778 [PubMed - as supplied by publisher]

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Vibrating-mesh nebulizer maintenance by CF patients: Results from a French survey.

Pulm Pharmacol Ther. 2017 Mar 14;:

Authors: Baravalle-Einaudi M, Dufeu N, Dupont C, Vecellio L, Delaisi B, Carsin A, Dubus JC, GRAM (Aerosols and Cystic Fibrosis Workgroup of the French Cystic Fibrosis Society)

Abstract
PURPOSE OF THE STUDY: Vibrating-mesh nebulizers are widely used at home for cystic fibrosis (CF) treatment, with a therapeutic efficiency closely linked to the mesh performance. This national study looks at the maintenance at home by CF patients and their families of the mesh of the eFlow(®)rapid nebulizer. Ninety-two patients from 34 French CF centers, treated at home with inhaled drugs delivered with a vibrating-mesh nebulizer, answered to a phone standardized questionnaire specifying the different techniques of maintenance of the nebulizer.
PRINCIPAL RESULTS: Patients were aged from 2 to 68 years (58.7% of children). They inhaled a mean of 1.8 nebulizations per day. Maintenance was assumed by patients in 36% of the cases. All steps of the theoretical maintenance of a nebulizer were respected in 66% of the cases. The mesh was not cleaned in 45.6%, not disinfected or not thermically disinfected in 32.5%, and not rinsed after chemical disinfection in 45.5% of the case. Only 49% of the patients knew the role of the MeshCare(®) system in the mesh maintenance, and only 39% had already used it when the nebulization duration reached 10 min.
CONCLUSIONS: Efforts about education, particularly for the maintenance of the mesh, are needed for CF patients using a vibrating-mesh nebulizer at home.

PMID: 28315491 [PubMed - as supplied by publisher]

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Potential for Screening for Pancreatic Exocrine Insufficiency Using the Fecal Elastase-1 Test.

Dig Dis Sci. 2017 Mar 17;:

Authors: Domínguez-Muñoz JE, D Hardt P, Lerch MM, Löhr MJ

Abstract
The early diagnosis of pancreatic exocrine insufficiency (PEI) is hindered because many of the functional diagnostic techniques used are expensive and require specialized facilities, which prevent their widespread availability. We have reviewed current evidence in order to compare the utility of these functional diagnostic techniques with the fecal elastase-1 (FE-1) test in the following three scenarios: screening for PEI in patients presenting with symptoms suggestive of pancreatic disease, such as abdominal pain or diarrhea; determining the presence of PEI in patients with an established diagnosis of pancreatic disease, such as chronic pancreatitis or cystic fibrosis; determining exocrine status in disorders not commonly tested for PEI, but which have a known association with this disorder. Evidence suggests the FE-1 test is reliable for the evaluation of pancreatic function in many pancreatic and non-pancreatic disorders. It is non-invasive, is less time-consuming, and is unaffected by pancreatic enzyme replacement therapy. Although it cannot be considered the gold-standard method for the functional diagnosis of PEI, the advantages of the FE-1 test make it a very appropriate test for screening patients who may be at risk of this disorder.

PMID: 28315028 [PubMed - as supplied by publisher]

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Technological advances shed light on left ventricular cardiac disturbances in cystic fibrosis.

J Cyst Fibros. 2017 Mar 14;:

Authors: Sayyid ZN, Sellers ZM

Abstract
Cystic fibrosis (CF), the most common autosomal recessive lethal disease in Caucasians, causes chronic pulmonary disease and can lead to cor pulmonale with right ventricular dysfunction. The presence of the cystic fibrosis transmembrane conductance regulator (CFTR) in cardiac myocardia has prompted debate regarding possible defective ion channel-induced cardiomyopathy. Clinical heart disease in CF is considered rare and is restricted to case reports. It has been unclear if this is due to the lack of physiological importance of CFTR in the heart, the relatively short lifespan of those with CF, or a technical inability to detect subclinical disease. Extensive echocardiographic investigations have yielded contradictory results, leading to the dogma that left ventricular defects in CF occur secondary to lung disease. In this review, we consider why studies examining heart function in CF have not provided clarity on this topic. We then focus on data from new echocardiographic and magnetic resonance imaging technology, which are providing greater insight into cardiac function in CF and demonstrating that, in addition to secondary effects from pulmonary disease, there may be an intrinsic primary defect in the CF heart. With advancing lifespans and activity levels, understanding the risk of cardiac disease is vital to minimizing morbidity in adults with CF.

PMID: 28314540 [PubMed - as supplied by publisher]

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Immediate effects of lumacaftor/ivacaftor administration on lung function in patients with severe cystic fibrosis lung disease.

J Cyst Fibros. 2017 Mar 14;:

Authors: Popowicz N, Wood J, Tai A, Morey S, Mulrennan S

Abstract
Safety-data for lumacaftor/ivacaftor (LUM/IVA) combination therapy in patients with severe lung disease (percent predicted forced expiratory volume in 1s [ppFEV1] <40) remain limited. We report immediate post-dose respiratory-related adverse events in 12 patients with severe cystic fibrosis (CF) lung disease (median [IQR] ppFEV1: 34 [31-36]) prescribed LUM/IVA. All patients experienced a decline in ppFEV1 from baseline at 2-hours (median [IQR] relative change: -19 [-21 to -11]%, p<0.001) that persisted at 24-hours but recovered in most patients at 1-month. No pre- and post-differences in bronchodilator response were observed. Ten (83.3%) patients reported non-severe respiratory-related adverse events within 24-hours of LUM/IVA initiation. At 1-month, eight (67%) patients had persistent symptoms and six (50%) were treated for a pulmonary exacerbation. Our results highlight that LUM/IVA respiratory-related adverse events are common in patients with a ppFEV1<40. We recommend close assessment of adverse events. Further studies are required to evaluate the efficacy of LUM/IVA in patients with severe lung disease.

PMID: 28314539 [PubMed - as supplied by publisher]

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Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.

PLoS Comput Biol. 2016 05;12(5):e1004725

Authors: Masica DL, Karchin R

PMID: 27171182 [PubMed - indexed for MEDLINE]

Funding Opportunity PAR-17-231 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) invites grant applications for research to examine 1) the impact of HAI on typical and atypical child development and health; 2) the evaluation of animal-assisted intervention for children and adults with disabilities or in need of rehabilitative services; 3) the effects of animals on public health, including cost effectiveness of involving animals in reducing and preventing disease.

Funding Opportunity PAR-17-230 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) invites grant applications for research to examine 1) the impact of HAI on typical and atypical child development and health; 2) the evaluation of animal-assisted intervention for children and adults with disabilities or in need of rehabilitative services; 3) the effects of animals on public health, including cost effectiveness of involving animals in reducing and preventing disease.

Funding Opportunity PAR-17-229 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) invites grant applications for research to examine 1) the impact of HAI on typical and atypical child development and health; 2) the evaluation of animal-assisted intervention for children and adults with disabilities or in need of rehabilitative services; 3) the effects of animals on public health, including cost effectiveness of involving animals in reducing and preventing disease.

Funding Opportunity PAR-17-228 from the NIH Guide for Grants and Contracts. This FOA invites applications to develop research resources, for use by the broader scientific community, for furthering research in the scientific area of epidemiology and/or prevention of childhood injuries. Consistent with the research priorities of the Pediatric Trauma and Critical Illness Branch and the portfolio on Injury Prevention, Trauma and Emergency Care, the research resource should focus on areas most likely to cause death or disability, including, but not limited to, motor vehicle crashes, firearms, poisonings, drowning, self-injurious behavior, fires, burns, and suffocation.

Funding Opportunity RFA-DE-18-003 from the NIH Guide for Grants and Contracts. The Dental Specialty and PhD Program (DSPP) FOA encourages applications for institutional research career development (K12) programs from organizations that propose to develop outstanding clinician scientists through an integrated program of advanced clinical training in a recognized dental specialty and supervised research training leading to a PhD in biomedical or behavioral science, or in another field applicable to dental, oral and craniofacial research. The program should accelerate the process of early career dentist scientists in achieving competencies in both clinical and research areas and facilitate the transition to an independent and productive research career dedicated to improving dental, oral and craniofacial health.

Notice NOT-HS-17-009 from the NIH Guide for Grants and Contracts

Notice NOT-NS-17-019 from the NIH Guide for Grants and Contracts

Funding Opportunity PA-17-225 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) encourages research grant applications focused on palliative care in geriatric populations. This FOA covers studies in a variety of settings including hospitals (and specific sites within hospitals including specialty medical or surgical wards, intensive care units, and emergency departments), post-acute care settings, outpatient clinics and doctors offices, patients homes and other residential settings, assisted living facilities, nursing homes, hospices, and other healthcare or community settings. This FOA encourages both prospective studies and analyses of existing datasets, health and medical records, claims data, or other sources. Leveraging ongoing cohorts, intervention studies, networks, data and specimen repositories, and other existing research resources and infrastructure are encouraged. Study designs may include observational approaches, quasi-experimental designs, and interventional studies.

Funding Opportunity PA-17-226 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) encourages exploratory or developmental research grant applications to develop new tools, methods, and models focused on palliative care in geriatric populations. This FOA covers studies in a variety of settings including hospitals (and specific sites within hospitals including specialty medical or surgical wards, intensive care units, and emergency departments), post-acute care settings, outpatient clinics and doctors offices, patients homes and other residential settings, assisted living facilities, nursing homes, hospices, and other healthcare or community settings. This FOA encourages both prospective studies and analyses of existing datasets, health and medical records, claims data, or other sources. Leveraging ongoing cohorts, intervention studies, networks, data and specimen repositories, and other existing research resources and infrastructure are encouraged. Study designs may include observational approaches, quasi-experimental designs, and limited interventional studies where feasible for this R21 mechanism.