Abstract：
:Inherited biochemical defects may present with acute life-threatening illness with a high mortality and morbidity. Some are treatable and have a good outcome with early appropriate intervention. However, because of their rarity, diagnosis is often delayed; they are not considered or investigated appropriately. This is especially likely in those presenting in previously healthy adults. The collection of acute samples is crucial. There are numerous disorders, and front-line tests must cast a wide net. A small core of emergency tests generally indicates which metabolic pathway is defective and provides a working diagnosis and basis for treatment. Later confirmation and identification of the precise defect are essential for long-term management and for genetic counselling and prenatal diagnosis of future pregnancies. An escalating number of specialist tests and mutation analyses are undertaken by metabolic laboratories worldwide, but they are not widely available, are expensive, and must be requested selectively. Guidelines are presented here for the front-line investigation of acutely ill children with hypoglycaemia, metabolic acidosis, encephalopathy and intractable seizures, and for a dying child with a suspected, undiagnosed, inherited metabolic defect. With modification, these are also applicable to adults with a metabolic defect. In order to guide further investigation, selected disorders are described briefly along with their diagnostic work-up. Information about sample collection and processing is provided.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Cook P,Walker Vdoi
10.1136/jcp.2009.067884subject
Has Abstractpub_date
2011-03-01 00:00:00pages
181-91issue
3eissn
0021-9746issn
1472-4146pii
jcp.2009.067884journal_volume
64pub_type
杂志文章,评审abstract：:A quantitative histological analysis of the major salivary glands was carried out at necropsy in 28 alcoholics and in a series of age and sex matched controls. The findings were related to the different types of histologically diagnosed liver disease present. Significant quantitative changes of salivary gland structur...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.41.8.837
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abstract：:Of the first 166 heart and 15 heart and lung transplant recipients at Papworth Hospital, Cambridge, who survived for more than one month after transplantation, 162 were investigated for cytomegalovirus (CMV) infection by serological methods. Altogether, 73 (45%) developed CMV infection after transplantation: 30 (18.5%...
journal_title：Journal of clinical pathology
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journal_title：Journal of clinical pathology
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doi：10.1136/jcp.15.6.574
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journal_title：Journal of clinical pathology
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.54.9.713
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abstract：:Three selective chromogenic culture media (CHROMagars ESBL, CTX-M and KPC) were evaluated for their ability to support the growth of nine Klebsiella pneumoniae isolates producing OXA-48 carbapenemase in combination with other β-lactamases. CHROMagar ESBL and CHROMagar KPC were the most sensitive media, supporting grow...
journal_title：Journal of clinical pathology
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abstract：:This report describes a case of refractory enteropathy with circulating intestinal goblet cell autoantibodies (IGA). A 19 year old man with hyperthyroidism had suffered from protracted diarrhoea for nearly 10 years. Histological examination showed evidence of collagenous enterocolitis. The diarrhoea did not improve de...
journal_title：Journal of clinical pathology
pub_type： 杂志文章,评审
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journal_title：Journal of clinical pathology
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doi：10.1136/jcp.54.5.391
更新日期：2001-05-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.50.3.206
更新日期：1997-03-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.54.11.854
更新日期：2001-11-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jclinpath-2019-206092
更新日期：2020-08-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.2003.010207
更新日期：2004-03-01 00:00:00
abstract：:Recent publications have suggested that fixing neutrophils in formalin is a useful adjunct to the differentiation of antinuclear antibodies from perinuclear antineutrophil cytoplasmic antibodies. In this small comparative study of 30 sera the use of an additional slide of formalin fixed neutrophils did not add any use...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.48.1.89
更新日期：1995-01-01 00:00:00
abstract：AIMS:To validate the Singapore nomogram for outcome prediction in breast phyllodes tumours in a large cohort of Singaporean patients, as previous validation studies were conducted on small numbers of patients. We also investigate the association of fibroadenomas and phyllodes tumours within a subset of our cohort. MET...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jclinpath-2017-204568
更新日期：2018-02-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.30.11.1025
更新日期：1977-11-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jclinpath-2014-202352
更新日期：2014-08-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.41.7.793
更新日期：1988-07-01 00:00:00
abstract：AIMS:To assess the association between Helicobacter pylori-associated gastritis and HLA-DR antigen (class II antigen) expression. METHODS:Fifty endoscopic gastric biopsy specimens were studied for the presence of H pylori, degree and type of inflammation, and for HLA-DR antigen expression in the epithelium. The cases ...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.45.1.30
更新日期：1992-01-01 00:00:00
abstract：:An imprint culture technique has been employed to study the prevalence and intraoral distribution of Candida albicans in 16 patients with Sjögren's syndrome and in 16 healthy controls matched for age, sex, and dental status. The prevalence and intraoral density of C. albicans was found to be significantly higher at al...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.33.3.282
更新日期：1980-03-01 00:00:00
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journal_title：Journal of clinical pathology
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journal_title：Journal of clinical pathology
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doi：10.1136/jcp.57.1.104
更新日期：2004-01-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.53.11.858
更新日期：2000-11-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jclinpath-2015-203281
更新日期：2016-06-01 00:00:00
abstract：:A monoclonal antibody, NP57, was produced and used against the neutrophil granule protein elastase, which selectively stain neutrophils in cryostat and paraffin wax sections. The antibody stains neutrophils and a subpopulation of monocytes in blood smears and neutrophil precursors in bone marrow smears, and gives posi...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.41.8.853
更新日期：1988-08-01 00:00:00
abstract：AIM:The earlier detection of breast cancer through mammographic screening has resulted in a shift in stage distribution with patients who are node-positive tending to present with a lower number of positive lymph nodes (LN). This study aims to assess the prognostic value of absolute number of positive nodes in the pN1 ...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jclinpath-2012-200755
更新日期：2012-07-01 00:00:00
abstract：:One hundred and twenty-one rectal biopsies from 99 patients with carcinoma of the rectum or lower sigmoid colon were investigated using a high iron-diamine-Alcian blue technique for sulphated and non-sulphated acid mucins. It was found that in normal rectal mucosa sulphomucins are the main carbohydrate component of th...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.25.2.123
更新日期：1972-02-01 00:00:00
abstract：AIM:To identify and review cases of false negative needle core biopsy (NCB) in the preoperative investigation of radial scar/complex sclerosing lesion (RS/CSL) lesions - that is, benign NCB from RS/CSL which contained malignancy on excision. METHODS AND RESULTS:A total of 11 false negative NCB in RS/CSL lesions from 2...
journal_title：Journal of clinical pathology
pub_type： 杂志文章
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.50.6.465
更新日期：1997-06-01 00:00:00
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journal_title：Journal of clinical pathology
pub_type： 杂志文章
doi：10.1136/jcp.55.1.27
更新日期：2002-01-01 00:00:00
