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1.
Int J Clin Pract ; 75(2): e13672, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32777123

RESUMO

AIMS: Lysosomal α-galactosidase A deficiency (Fabry disease (FD)) was considered an X-linked recessive disorder but is now viewed as a variable penetrance dominant trait. The prevalence of FD is 1 in 40 000-117 000 but the ascertainment of late-onset cases and degree of female penetrance makes this unclear. Its prevalence in the general population, especially in patients with abnormal renal function is unclear. This study attempted to identify the prevalence of FD in patients with abnormal renal function results from laboratory databases. METHODS: Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of reduced estimated glomerular filtration rate categorised by age on one occasion or more over a 3-year time interval. Patients were recalled and a dried blood spot sample was collected for the determination of α-galactosidase A activity by fluorimetric enzyme assay in men and mass spectrometry assays of α-galactosidase A and lyso-globotriaosylceramide (lyso-GL-3) concentrations in women. RESULTS: Samples were obtained from 1084 patients identified with reduced renal function. No cases of FD were identified in 505 men. From 579 women, one subject with reduced α-galactosidase activity (1.5 µmol/L/h) and increased Lyso-GL-3 (5.5 ng/mL) was identified and shown to be heterozygous for a likely FD pathogenic variant (GLA c.898C>T; p.L300F; Leu300Phe). It was later confirmed that she was a relative of a known affected patient. CONCLUSIONS: Pathology databases hold routine information that can be used to identify patients with inherited errors of metabolism. Biochemical screening using reduced eGFR alone has a low yield for unidentified cases of Fabry Disease.


Assuntos
Doença de Fabry , Doença de Fabry/diagnóstico , Doença de Fabry/epidemiologia , Doença de Fabry/genética , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Programas de Rastreamento , Fenótipo , alfa-Galactosidase/genética
2.
J Clin Pathol ; 72(12): 805-809, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31308256

RESUMO

AIMS: Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid α-1,4 glucosidase (acid maltase) deficiency (Pompé disease). This study investigated whether screening of asymptomatic patients with elevated creatine kinase (CK) could improve detection of Pompé disease. METHODS: Pathology databases in six hospitals were used to identify patients with elevated CK results (>2× upper limit of normal). Patients were recalled for measurement of acid α-1,4 glucosidase activity in dried blood spot samples. RESULTS: Samples were obtained from 812 patients with elevated CK. Low α-glucosidase activity was found in 13 patients (1.6%). Patients with neutropaenia (n=4) or who declined further testing (n=1) were excluded. Confirmation plasma specimens were obtained from eight individuals (1%) for a white cell lysosomal enzyme panel, and three (0.4%) were confirmed to have low α-1,4-glucosidase activity. One patient was identified as a heterozygous carrier of an acid α-1,4 glucosidase c.-32-13 G>T mutation. Screening also identified one patient who was found to have undiagnosed Fabry disease and one patient with McArdle's disease. One patient later presented with Pompé's after an acute illness. Including the latent case, the frequency of cases at 0.12% was lower than the 2.5% found in studies of patients with raised CK from neurology clinics (p<0.001). CONCLUSIONS: Screening pathology databases for elevated CK may identify patients with inherited metabolic errors affecting muscle metabolism. However, the frequency of Pompé's disease identified from laboratory populations was less than that in patients referred for neurological investigation.


Assuntos
Creatina Quinase/sangue , Glucana 1,4-alfa-Glucosidase/sangue , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Programas de Rastreamento/métodos , Adulto , Idoso , Doenças Assintomáticas , Análise Mutacional de DNA , Bases de Dados Factuais , Teste em Amostras de Sangue Seco , Diagnóstico Precoce , Inglaterra , Feminino , Predisposição Genética para Doença , Glucana 1,4-alfa-Glucosidase/deficiência , Glucana 1,4-alfa-Glucosidase/genética , Doença de Depósito de Glicogênio Tipo II/sangue , Doença de Depósito de Glicogênio Tipo II/enzimologia , Doença de Depósito de Glicogênio Tipo II/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Valor Preditivo dos Testes , Regulação para Cima
3.
JRSM Open ; 10(4): 2054270419844181, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31041106

RESUMO

OBJECTIVE: To investigate recent (2011-2015) research productivity in clinical biochemistry and compare it with a previous audit (1994-1998). DESIGN: A retrospective audit of peer-reviewed academic papers published in Medline listed journals. SETTING: UK chemical pathology/clinical biochemistry laboratories and other clinical scientific staff working in departments of pathology. PARTICIPANTS: Medically qualified chemical pathologists and clinical scientists. MAIN OUTCOME MEASURES: Publications were identified from electronic databases for individuals and sites. Analyses were conducted for individuals, sites and regional educational groups. RESULTS: Clinical scientific staff numbers fell by 3.9% and medical staff by 17.4% from 1998 to 2015. Publication rates declined as publication count centiles rose between 1998 and 2015 (e.g. n = 5; 67th→84th centile; p < 0.001). A reduction in productivity was seen in medically qualified staff but less from clinical scientists. Regional staffing was 77 ± 37 (range 30-150) with university hospital laboratory staff accounting for 58 ± 19% (range 30-92%). Medically qualified staff comprised 20 ± 4% of staff with lowest numbers in some London regions. Publication rates varied widely with a median of 155 papers per region (range 98-1035) and 2.82 (1.21-8.62) papers/individual. The skew was attenuated, increasing the publication rate to 6.0 ± 2.73 papers (range 2.29-11.76)/individual after correction for the number of university hospital sites per region and was not related to numbers of trainees. High publication rates were associated with the presence of one highly research-active individual. Their activity correlated over their careers from recruitment to today (r2 = 0.45; p = 0.05). The productivity rates of recent cohorts of trainees are inferior to previous cohorts. CONCLUSIONS: Research remains a minority interest in clinical biochemistry. A small and decreasing proportion of individuals publish 90% of the work. A reduction was seen in clinical scientist and especially medical research productivity. No correlation of training activity with research productivity was seen implying weak links with translational medicine.

4.
Int J Clin Pract ; : e13297, 2018 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-30472761

RESUMO

BACKGROUND: Increasing demand for laboratory testing at weekends is common but little is known about its appropriateness. METHODS: An audit was conducted in a large district hospital of routine haematology and clinical biochemistry requests ordered over two weekends. Appropriateness was assessed by review of ordered tests compared with clinical records by a qualified chemical pathologist. RESULTS: Profiles requested on phlebotomy included full blood count (76%), renal profile (91%), C-reactive protein (41%), liver function tests (18%) and another test in 18%. Phlebotomy was likely unnecessary in 47.5% of episodes while 60.8% of requested assays were graded probably unnecessary or unnecessary. At ward level the number of requests averaged 37 (median 32; range 2-76) totalling 446 separate profiles or assays. There was no difference in phlebotomy requests by ward (P = 0.19). Differences were observed in ordered tests (P = 0.005) which were caused by one outlier ward with a low request rate. CONCLUSIONS: A large number of unnecessary common tests seem to be carried out at weekends as part of the routine care. Implementation of demand management through education and if necessary electronic limitation of requests may be useful to control laboratory workloads.

7.
Expert Rev Pharmacoecon Outcomes Res ; 9(5): 423-33, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19817526

RESUMO

A literature review was conducted to identify studies exploring the cost-effectiveness of intensive lipid-lowering regimens compared with a generic low-dose statin for individuals with acute coronary syndrome. Three papers matched the inclusion criteria. All used a Markov model to represent the long-term clinical pathway; two were set in the UK and one was in the USA. While there were substantial differences in the effectiveness data, the definitions of the health states and the numbers of events predicted, all authors found that the intensive regimen was a cost-effective alternative compared with a generic lower dose statin. If the cost of atorvastatin reduces from GBP 368 pounds to 90 pounds per annum when the patent expires in 2011, atorvastatin 80 mg/day would be the most optimal treatment for this patient group. Simvastatin 80 mg/day should not be considered an alternative owing to an adverse safety profile and limited additional benefits.


Assuntos
Síndrome Coronariana Aguda/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hipolipemiantes/uso terapêutico , Síndrome Coronariana Aguda/economia , Ensaios Clínicos como Assunto , Análise Custo-Benefício , Medicamentos Genéricos/administração & dosagem , Medicamentos Genéricos/economia , Medicamentos Genéricos/uso terapêutico , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Inibidores de Hidroximetilglutaril-CoA Redutases/economia , Hipolipemiantes/administração & dosagem , Hipolipemiantes/economia , Cadeias de Markov , Reino Unido , Estados Unidos
12.
Adv Skin Wound Care ; 16(6): 317-27, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14652518

RESUMO

OBJECTIVE: To determine whether a viscoelastic polymer (energy absorbing) foam mattress was superior to a standard hospital mattress for pressure ulcer prevention and to analyze the cost-effectiveness in comparison with standard hospital mattresses. DESIGN: Unblinded, randomized, prospective trial. SETTING: Elderly acute care, rehabilitation, and orthopedic wards at 3 hospitals in the United Kingdom. PARTICIPANTS: 1168 patients at risk of developing pressure ulcers (Waterlow score, 15 to 20), with a median age of 83 years (25th to 75th percentile range, 79-87). INTERVENTIONS: Participants were allocated to either the experimental equipment (CONFOR-Med mattress/cushion combination) or a standard mattress/cushion combination; all were given standard nursing care. Pressure areas were observed daily. MAIN OUTCOME MEASURE: Development of nonblanching erythema. RESULTS: A significant decrease in the incidence of blanching erythema (26.3% to 19.9%; P =.004) and a nonsignificant decrease in the incidence of nonblanching erythema occurred in participants allocated to the experimental equipment. However, when the survival curve plots were analyzed at 7 days, both categories showed statistically significant decreases (P =.0015 and P =.042, respectively). Participants on standard equipment had a relative odds ratio of 1.36 (95% confidence interval [CI], 1.10-1.69) for developing blanching erythema or worse and 1.46 (95% CI, 0.90-1.82) for developing nonblanching erythema or worse. To prevent nonblanching erythema, the number needed to treat (NNT) was 41.9 (95% CI, -82.6-15.3). To prevent any erythema (blanching or nonblanching), the NNT was 11.5 (95% CI, 41.6-9.3). Participants with blanching or nonblanching erythema were significantly less mobile than participants with normal skin and more likely to have worsening mobility (P <.001). For participants with similar pressure ulcer status, mattress type was not associated with difference in mobility. CONCLUSIONS: Regardless of prevention routine, pressure ulcers occur. In this study, the experimental equipment showed statistical significance to standard equipment for prevention of blanching erythema; significance was not achieved for nonblanching erythema. Trend and survival analysis show that a larger study is required to determine whether this nonsignificant difference is genuine.


Assuntos
Leitos/normas , Úlcera por Pressão/prevenção & controle , Idoso , Idoso de 80 Anos ou mais , Leitos/economia , Análise Custo-Benefício , Desenho de Equipamento/normas , Eritema/epidemiologia , Eritema/etiologia , Eritema/prevenção & controle , Feminino , Humanos , Masculino , Programas de Rastreamento , Avaliação em Enfermagem , Poliuretanos/normas , Úlcera por Pressão/economia , Úlcera por Pressão/epidemiologia , Úlcera por Pressão/etiologia , Estudos Prospectivos , Fatores de Risco , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento , Reino Unido/epidemiologia
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