A case of Menkes syndrome with pyloric stenosis: an effect of copper deficiency on NOS1?
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Biomedical subjects
Publications and source records attributed to S Cunningham.
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OBJECTIVES: To determine what standard paediatric medical students would set for examining their peers and how that would compare with the university standard. DESIGN: Single blinded computer marked examination with questionnaire. SETTING: University medical school. SUBJECTS: Medical students during their final paediatric attachment. INTERVENTIONS: Medical students asked to derive 10, five branch negatively marked multiple choice questions (MCQs) to a standard that would fail those without sufficient knowledge. Each 10 were then assessed by another student as to the degree of difficulty and the relevance to paediatrics. One year later student peers sat a mock MCQ examination derived from a random 40 questions (unaware that the mock MCQs had been derived by peers). MAIN OUTCOME MEASURES: Comparison of marks obtained in mock and final MCQ examinations; student perception of the standard in the two examinations assessed by questionnaire. RESULTS: 44 students derived 439 questions, of which 83% were considered an appropriate standard by a classmate. One year later 62 students sat the mock examination. Distribution of marks was better in the mock MCQ examination than the final MCQ examination. Students considered the mock questions to be a more appropriate standard (72% v 31%) and the topics more relevant (88% v 64%) to paediatric medical students. Questions were of a similar clarity in both examinations (73% v 78%). CONCLUSIONS: Students in this study were able to derive an examination of a satisfactory standard for their peers. Involvement of students in deriving examination standards may give them a better appreciation of how standards should be set and maintained.
Extensive planning and preparation by public health agencies were required for the provision of public health services during the 1996 Centennial Olympic Games, which brought together more than 10000 athletes from 197 countries and more than 2 million visitors. Public health activities included the development and use of an augmented surveillance system to monitor health conditions and detect disease outbreaks; creation and implementation of 6 environmental health regulations; establishment of a central Public Health Command Center and response teams to coordinate response to public health emergencies; planning for potential mass casualties and the provision of emergency medical services; implementation of strategies for the prevention of heat-related illness; and distribution of health promotion and disease prevention information. Public health agencies should take the lead in organizing and implementing a system for preventing and managing public health issues at future large-scale public events such as the Olympics.
OBJECTIVE: To assess whether the provision of computerized physiologic trend data could improve outcome in newborn infants requiring intensive care. DESIGN: Randomized, controlled trial, with subsidiary questionnaire studies. SETTING: Tertiary neonatal intensive care unit with 12 intensive care cots. PATIENTS: All infants admitted between January 1991 and September 1993 who were < or =32 wks gestation or >32 wks gestation, and ventilated for >4 hrs or asphyxiated. INTERVENTIONS: Randomization to one of four groups for first 7 days of life: A) no display of trend data; B) continuous display of trend data; C1) alternating 24-hr display of trend data, starting with display in first 24 hrs; and C2) alternating 24-hr display of trend data, starting with no display in first 24 hrs. MEASUREMENTS AND MAIN RESULTS: The short-term effects of monitoring on patient outcome was judged by volume of colloid given, number of blood gases taken, and by measurement taken from cranial Doppler ultrasound. Medium-term measures included time ventilated, time given supplemental oxygen, death, time to death or discharge, and cranial ultrasound at discharge. Long-term outcome was assessed by neurodevelopmental status at age 1 to 4 yrs of age. Staff and parent questionnaires assessed their respective attitudes to the introduction of this technology. None of the patient outcome measures, short-, medium-, or long-term, demonstrated any significant benefit from the provision of computerized physiologic trend monitoring. Staff questionnaires demonstrated an acceptance of the system and an improved understanding of neonatal physiology as a result of computerized physiologic trends. Parent questionnaires demonstrated increased anxiety caused by the system in 11% of parents, although only 1% of parents continued to have concerns if the system were able to help their child. CONCLUSIONS: A randomized, controlled trial was unable to demonstrate any benefit to patients resulting from the introduction of a computerized physiologic trend monitoring system. Benefits of the system have been recognized, however, in subsidiary studies, staff education, and research studies.
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BACKGROUND: Antenatal screening for cystic fibrosis has been endorsed by the US National Institutes of Health. Edinburgh is the only city in the UK with an established routine antenatal screening programme for cystic fibrosis. AIMS: To report the change in numbers of infants diagnosed with cystic fibrosis born in Edinburgh after the introduction of antenatal screening for the disease. POPULATION: Infants diagnosed as having cystic fibrosis (by sweat test or genotyping, or both) in the seven years before antenatal testing (1984-90) and the first five years of antenatal testing (1991-95). Children born in this region who had moved before diagnosis were identified from the UK cystic fibrosis survey database. RESULTS: The incidence of cystic fibrosis decreased from an average of 4.6 to 1.6 children each year with antenatal screening. The reduction in the incidence (65%) was greater than that accounted for by prenatal diagnosis and termination (36%). Of the eight children born with cystic fibrosis during the period of antenatal screening, five had been subject to antenatal screening: three had only one mutation identified, one was missed due to a laboratory error, and one was identified as a one in four risk, but prenatal diagnosis was not performed. CONCLUSIONS: Antenatal testing for cystic fibrosis has successfully reduced the incidence of cystic fibrosis in this region. Although the numbers are small, it is possible that the reduction in numbers may have been greater than might be expected from antenatal screening alone.
Subsequent to publication of the NINDS t-PA Stroke Study results, we sought to determine the proportion of patients eligible for and receiving intravenous tissue plasminogen activator (t-PA) at an active acute stroke treatment center. Over a 12-month period there were 185 stroke code activations. Of these, 134 involved patients with ischemic stroke, and 48 of these (36%) were potentially eligible for treatment with t-PA by the time criterion (i.e., interval from stroke onset to hospital presentation < 3 hours). Nine of the 48 potentially eligible patients (19%) and 9 of 134 ischemic stroke patients (7%) overall received t-PA. In our patient population only a small proportion of all patients with acute ischemic stroke presently are eligible for treatment with t-PA.
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The decision as to when to refer patients with transverse problems and when to undertake expansion can be confusing. This paper explains the situations when expansion should be undertaken and also covers the methods of treatment currently available.
BACKGROUND: Emergency departments (EDs) are recommended as sites for immunizing children. However, there is little information about the effect of ED immunization programs on immunization rates. OBJECTIVES: To assess the ability of 2 ED immunization programs to vaccinate children and to measure the effect of the programs on immunization rates after the ED visit and 6 months later. DESIGN: A prospective cohort study. Emergency department patients were screened for immunization status, and vaccinations were offered to patients who either were documented to be eligible or were eligible by age and had no documented records. A systematic, sequential sample of those accepting vaccinations (study patients) was compared with a systematic, sequential sample of those not vaccinated (control subjects). Telephone interviews and medical record reviews were performed 6 months after the ED visit to verify dates of immunizations. Results were weighted to reflect the sampling frames of patients screened by the 2 programs. SETTING: Two EDs in New York City (in Manhattan and the Bronx) and the surrounding primary care offices. PATIENTS: Children (aged 0-6 years) screened for immunization status by the ED immunization program during a 10-week period; these included 210 children from the Manhattan ED (106 vaccinated in the ED) and 274 children from the Bronx ED (129 vaccinated in the ED). INTERVENTION: Emergency department immunizations. MAIN OUTCOME MEASURES: Proportion of patients (vaccinated, not vaccinated, and ED population) up-to-date for immunizations (1) at the time of the ED visit, (2) 1 day later, and (3) 6 months later. RESULTS: Two thirds of the patients in each ED had Medicaid, and one tenth were uninsured. At the time of the ED visit, 20% of the vaccinated children in each ED were actually up-to-date and were unnecessarily vaccinated; 74% (Manhattan ED) and 72% (Bronx ED) of the not vaccinated children were up-to-date (the remainder were later determined to have been eligible for vaccinations). One day after the ED visit, and 6 months later, the immunization rates of the vaccinated and not vaccinated children were similar. The results of the weighted analysis were as follows: for the entire ED population screened for immunization status, compared with up-to-date rates at the time of the ED visit, rates 1 day later were 11% (Manhattan ED) and 8% (Bronx ED) higher in each ED (P < .05); and rates 6 months later were the same in the Manhattan ED and 10% lower in the Bronx ED (P < .01). Eighteen percent of all children screened for immunization status were vaccinated; 10 to 15 children were screened and 2 to 4 children were vaccinated per 8-hour ED shift. CONCLUSIONS: This ED immunization program temporarily improved the immunization rates of the ED population, but substantial personnel time was required to achieve these small gains. Urban ED immunization programs are unlikely to be cost-effective.
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Structural analyses of human immunoglobulin gene segments from monoclonal cell lines provide valuable information regarding the antibody repertoire. This information, in conjunction with a nearly complete knowledge of the human immunoglobulin germline repertoire, now allows further investigation into the underlying molecular basis responsible for some of the observed biases found in the expressed repertoire. One human heavy chain variable region gene segment, V4-34 (VH4-21), is one of the most prevalent gene segments in the expressed repertoire. The overwhelming presence of the V4-34 gene segment suggests that it may play an important role in immune responses. However, there is currently little information regarding its presence and potential importance in nonhuman primates. In order to determine if this gene segment is used by lower primates in a similar manner we determined the molecular structure of the variable region gene segments that are expressed by macaque monoclonal heterohybridomas that are specific for human red blood cell antigens. Eleven of the 12 hybridomas are derived from Rhesus monkeys (Macaca mulatta) and one is from a cynomologous monkey (Macaca fascicularis), all of which have been immunized with human red blood cells. The predominance of a VH4-like family and the specific absence of a VH4-21 equivalent led us to further characterize the macaque VH4 gene family at the germline level. Therefore, germline gene segments from the macaque equivalent to the human VH4 gene family are also described.
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BACKGROUND AND PURPOSE: There is now therapy of proven benefit for acute ischemic stroke. Successful interventional therapy for stroke patients requires implementation of a system that facilitates rapid triage and diagnostic evaluation. METHODS: We initiated a 24-hour, 7-day-per-week stroke code system at the University of South Alabama Hospitals and prospectively collected data from the first 100 patients whose clinical presentations triggered this system. RESULTS: Seventy-eight patients (78%) had acute ischemic stroke. Of the remaining 22, 9 had evidence of intracerebral hemorrhage. The most common nonstroke diagnosis was seizure (n = 5). Forty-eight of the 87 stroke patients (55%) presented within 6 hours of stroke onset (40/78 = 51% of the ischemic stroke patients), and 35 of the 87 (40%) presented within 3 hours of onset (28/78 = 36% of the ischemic stroke patients). Thirty-one (31% of the group overall; 40% of the ischemic stroke patients) were eligible for acute therapy. Twenty-five of these eligible patients were entered into a treatment study, 4 declined participation, and 2 were treated with open-label tissue plasminogen activator. CONCLUSIONS: Implementation of a stroke code system may result in a high yield of patients with acute stroke and relatively few "stroke mimickers." A significant proportion of all cases generated will be eligible for acute treatment under current experimental protocols or with tissue plasminogen activator, but the majority will not.
STUDY OBJECTIVES: To assess the practicality and precision of a simple desktop theophylline assay (Biotrack 516TM) in comparison to a standard laboratory assay system (Abbott TDxTM). DESIGN: A prospective blinded paired sample study. SETTING: The respiratory ward and outpatient clinics, the pulmonary function and biochemistry laboratories of a university teaching hospital. PATIENTS: Sixty patients with asthma or COPD attending the respiratory service. MEASUREMENTS AND RESULTS: Paired specimens for theophylline assay were collected simultaneously for analysis. There was a highly significant (p < 0.001) correlation between the two assay systems for both the total range studied (1.2-39.1 micrograms/mL; r = 0.98), and the clinically important range of 5-15 micrograms/mL (r = 0.95). The limits of agreement for the data by the Bland and Altman method indicated a +/-2 micrograms/mL limit for the 5-15 micrograms/mL range and a +/-2.7 micrograms/mL limit for the total range studied. CONCLUSIONS: The Biotrack 516 is an easy-to-use system, which provides rapid and reasonably precise measurements of serum theophylline levels. The device should be of particular value in smaller centers without an on-site laboratory assay system.