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Biomedical subjects

Stephen Miller

Publications and source records attributed to Stephen Miller.

11 recordsLinked to original sources
PubMed2006

The incorporation of patient safety into board certification examinations.

In response to growing recognition of the importance of patient safety in the practice of medicine, the American Board of Medical Specialties (ABMS) is encouraging its individual specialty member boards to introduce material on patient safety into certification examinations. Certification and recertification candidates, medical schools, and residency programs will likely need to prepare for the possibility that upcoming examinations will include patient safety. Due to the relative youth of the patient safety movement, some may ask whether the field is sufficiently developed and, if so, ask what would be fair to ask candidates to know. To determine what subject matter could be reliably tested, the ABMS and the Council of Medical Specialty Societies convened a panel of patient safety experts in 2003. Based on the panel's recommendations, the authors provide a brief summary of the panel's findings and an overview of current concepts in patient safety. The authors also explore which current concepts of patient safety candidates may reasonably expect to find on upcoming examinations.

Certification↗
PubMed2006

Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene.

OBJECTIVE: We previously described an association between the -344C/T 5'-untranslated region (UTR) polymorphism in the CYP11B2 (aldosterone synthase) gene and hypertension with a raised aldosterone to renin ratio (ARR); the same genetic variant is also associated with impaired adrenal 11beta-hydroxylase efficiency. The -344 polymorphism does not seem to be functional, so is likely to be in linkage with variants in CYP11B1 that determine the associated variation in 11beta-hydroxylase efficiency. We therefore aimed to determine whether there is an association between CYP11B1 variants and hypertension and/or an altered ARR. DESIGN AND MEASUREMENTS: We screened 160 subjects divided into four groups, normotensive controls, unselected hypertensive subjects, and hypertensive subjects with either a high (> or = 750) or low ARR (< or = 200), for variants in the coding region of CYP11B1 by single-stranded conformation polymorphism (SSCP) and direct sequencing. The effects of these variants on enzyme function were assessed by conversion of 11-deoxycortisol to cortisol and 11-deoxycorticosterone (DOC) to corticosterone. RESULTS: Eight novel missense mutations were identified in the CYP11B1 gene that alter the encoded amino acids: R43Q, L83S, H125R, P135S, F139L, L158P, L186V and T196A. In each case they were heterozygous changes. However, no mutations were identified that could account for hypertension and/or a raised ARR. The variants L158P and L83S severely impaired enzyme function while R43Q, F139L, P135S and T196A enzymes resulted in product levels that were approximately 30-50% that of wild-type levels. The variant enzymes H125R and L186V resulted in substrate-specific alterations in enzyme function. H125R decreased conversion of 11-deoxycortisol to cortisol and L186V increased 11-deoxycortisol conversion. Neither had an effect on the conversion of DOC to corticosterone. CONCLUSION: No variants were identified in the coding region of CYP11B1 that could account for hypertension and/or a raised ARR. However, this in vitro study identifies the importance of these affected residues to enzyme function and will inform subsequent studies of structure-function relationships.

Adolescent↗
PubMed2005

Open-label risperidone for Asperger's disorder: negative symptom spectrum response.

OBJECTIVE: Asperger's disorder consists of negative symptoms similar to those seen in schizophrenia, autism, schizoid personality disorder, and schizotypal personality disorder. We investigated whether risperidone, which is effective in treating the negative symptoms of schizophrenia, would improve such symptoms observed in Asperger's disorder in a prospective, open-label trial. METHOD: Thirteen male patients aged 6 to 18 years who were diagnosed with Asperger's disorder by DSM-IV criteria were enrolled in a 12-week, prospective, open-label pilot study from March 13, 2002 to August 11, 2003. All subjects were started on risperidone 0.25 mg twice per day. Doses were increased based on clinical indication and tolerability. The primary efficacy variable was the Scale for the Assessment of Negative Symptoms (SANS). Each subject's baseline score served as his control. Secondary efficacy measures included the Positive and Negative Syndrome Scale, Brief Psychiatric Rating Scale, Montgomery-Asberg Depression Rating Scale, Global Assessment Scale, and a modified Asperger Syndrome Diagnostic Scale. RESULTS: We found a statistically significant improvement from baseline for last-observation-carried-forward (LOCF) analyses as well as for analyses of 12-week completers (N = 9) in our primary outcome measure, SANS scores (F = 13.41, p < .0001 for 12-week completers; F = 9.64, p < .0001 for LOCF). We also found statistically significant improvement in all secondary efficacy measurements (F values range, 8.41 to 15.73, p values range, < .0001 to < .005 for 12-week completers; F values range, 6.53 to 7.75, all p < .0001 for LOCF). CONCLUSIONS: Subjects' symptoms significantly improved after risperidone. The open-label nature of this small pilot study suggests caution in interpreting these data, but the results suggest that placebo-controlled trials should follow.

Adolescent↗
PubMed2004

Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

UNLABELLED: Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin D deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range. CONCLUSION: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. Awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therapy.

Bone Diseases, Metabolic↗
PubMed2004

Popliteal artery entrapment syndrome in a young girl.

Popliteal artery entrapment syndrome (PAES) is well-described in adults, but is an uncommon cause of lower-limb pain in children. We present an 11.5-year-old girl with thrombosed aneurysm of the right popliteal artery, subsequently diagnosed with bilateral type I PAES. Multimodality illustration of the radiological findings is presented.

Aneurysm↗
PubMed2004

Area wide electronic booking: a revolution in the management of health and well being.

Area wide electronic booking provides patients with the choice of date, time and place as well as the certainty of appointment when referred into secondary care by their GP. The system provides substantial benefits to both primary and secondary care as well as to the patient. This model is to be imminently implemented throughout the NHS in England, drawing from the experiences gained in South East London.

Appointments and Schedules↗
PubMed2002

Supplements and drugs used to enhance athletic performance.

The temptation of using drugs and supplements as shortcuts to improving athletic performance or even to enhance appearance is very seductive to adolescents. This age group is often characterized by a desire for quick results and a lack of concern for future consequences. Preventing the use of drugs to enhance athletic performance is difficult even when we have good medical and scientific evidence to prove a dangerous risk-benefit ratio, such as with AASs. The use of "nutritional supplements" is even more difficult to control. The protection of these substances by the Dietary Supplement Health and Education Act of 1994 removed control of these substances from the FDA. Therefore, release and widespread use of new supplements occurs before significant clinical study of benefit and adverse effects takes place. The distributors' financial interest, the products' promotional claims, and the athletes' and coaches' insatiable desire to win at all costs are a volatile combination. This spawns the production of a huge number of "natural" products, making it even more difficult to assess efficacy, safety, legality, and purity of these substances. Health care professionals need to rely on research when available, stay current on trends in athletes' drug and supplement use, and discuss the individual athlete's concerns when they arise. The preparticipation physical examination can be a good opportunity for discussion. Finally, physicians need to educate athletes, parents, coaches, trainers, and other physicians. A reasonable strength and conditioning program and a well-balanced diet must be presented as a sensible alternative to a riskier, shortcut mindset.

Adolescent↗
PubMed2002

Orthopaedic recertification.

This report summarizes a symposium presented at the 2001 Annual Meeting of the American Orthopaedic Association that was designed to assess the current status of recertification by the American Board of Orthopaedic Surgery (ABOS) and to determine how it will change in the near future. Recertification is a process whereby the general public is assured of quality medical care by a competent and knowledgeable physician. As a professional organization, we have an obligation to provide quality care. The nature of the public demand for standards ensuring competence and the history of recertification in orthopaedic surgery are examined. The recertification of commercial airline pilots is reviewed, as it provides a model of an unrelated but highly skilled profession requiring intellectual and technical proficiency. The goals and plans of the American Board of Medical Specialties (ABMS), which encompasses the views of all twenty-four major specialty boards including orthopaedic surgery, are reviewed. Finally, the future plans of the ABOS for recertification are considered.

Certification↗
PubMedDate not supplied

Volatile organic compounds produced during irradiation of mail.

In 2001, Bacillus anthracis spores were delivered through the United States postal system in a series of bioterrorist acts. Controls proposed for this threat included sanitization with high-energy electrons. Solid phase microextraction was used with gas chromatography/mass spectrometry for field sampling and analysis of volatile compounds apparently produced from polymeric materials such as cellulose and plastics, immediately following processing of mail at a commercial irradiation facility. Solid phase microextraction and direct sampling of air into a cryogenically cooled temperature programmable inlet were used in the laboratory for gas chromatography/mass spectrometry analysis of air in contact with irradiated mail, envelopes only (packaged identically to mail), and air inside irradiated plastic mail packaging bags (with neither mail nor envelopes). Irradiated mail or envelope systems produced hydrocarbons such as propane, butane, pentane, hexane, heptane, methylpentanes, and benzene; and oxygen-containing compounds such as acetaldehyde, acrolein, propionaldehyde, furan, 2-methylfuran, methanol, acetone, 2-butanone, and ethanol. In addition to hydrocarbons, methyl and ethyl nitrate were detected in irradiated bags that contained only air, suggesting reactive nitrogen species formed from air irradiation reacted with hydroxy-containing compounds to give nitro esters. The similarities of volatile compounds in irradiated systems containing paper to those observed by researchers studying cellulose pyrolysis suggests common depolymerization and degradation mechanisms in each case. These similarities should guide additional work to examine irradiated mail for chemical compounds not detectable by methods used here.

Air Pollution, Indoor↗