Abstract:
:In two families with severe sex-linked muscular dystrophy, high levels of alpha-hydroxybutyrate dehydrogenase (HBD), lactate dehydrogenase (LD), aspartate transaminase (AspT), aldolase, and creatine phosphokinase (CPK) were found in the sera of three young affected males. In both families the mother had a raised level of HBD activity. Four sisters of the three affected boys had raised serum enzyme levels, and they are regarded as presumptive carriers of the disease. Biopsy specimens of dystrophic muscle had LD and HBD contents which were significantly lower than those of control specimens, while the HBD/LD ratios were markedly greater. Muscle from two unaffected members of the same family also exhibited high ratios, indicating the presence of the electrophoretically fast LD isoenzymes, and this was confirmed by acrylamide-gel electrophoresis.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Johnston HA,Wilkinson JH,Withycombe WA,Raymond Sdoi
10.1136/jcp.19.3.250subject
Has Abstractpub_date
1966-05-01 00:00:00pages
250-6issue
3eissn
0021-9746issn
1472-4146journal_volume
19pub_type
杂志文章abstract::The fetal antigen i has been demonstrated by indirect immunofluorescence on cord erythrocytes and placental trophoblast. A patient with disseminated choriocarcinoma developed high-tire anti-i cold agglutinins, and minor elevation of anti-i titres was seen in four out of six further patients with treated choriocarcinom...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.32.6.523
更新日期:1979-06-01 00:00:00
abstract::Aztreonam blood agar, a new selective medium for Gram positive aerobic bacteria, was evaluated in comparison with conventional media for skin swabs. Aztreonam agar increased the number of isolates of Staphylococcus aureus by 17%. By producing purer growths on primary isolation, it significantly speeded up the identifi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.46.8.769
更新日期:1993-08-01 00:00:00
abstract::During a 12-month period, 40 146 blood donors were tested for the presence of high titre antitetanus antibodies. An attempt has been made to define the most suitable donors, those with antitetanus antibody titres of 4 IU/ml or above, by virtue of titre, sex, location, and length of time since most recent immunisation...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.30.2.177
更新日期:1977-02-01 00:00:00
abstract::The histological appearances of the breast in a patient with mucoviscidosis are those of complete lobular agenesis. Ducts and ductules are well developed, and there is abundant fibrous tissue giving the breast a normal contour. The appearances are contrasted with those of gynaecomastia, and the aetiology is discussed....
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.2.119
更新日期:1972-02-01 00:00:00
abstract:CLINICAL QUESTION:A 45-year-old woman presented with painless vaginal bleeding for 2 months. A biopsy was taken from the uterine cervix, and poorly differentiated adenocarcinoma was suspected. After three cycles of neoadjuvant chemotherapy treatment, the patient underwent radical hysterectomy with bilateral salpingo-oo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205081
更新日期:2018-11-01 00:00:00
abstract::Melanocytes in melanocytic naevi and melanomas can display great variation. The presence of nuclear pseudoinclusions (NPI) is said to be useful in the histological and cytological differential diagnosis of malignant melanoma. The prevalence and characteristics of NPI in a series of 493 naevi and 50 melanomas are descr...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.7.676
更新日期:1995-07-01 00:00:00
abstract::A case of abnormal chromatin clumping (ACC) which arose during the course of a myelodysplastic/myeloproliferative syndrome is described in a 61 year old woman who died of haemorrhage 43 months after diagnosis. Mature granulocytes exhibited the same nuclear abnormality described in other patients reported. Unusually, s...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.46.2.177
更新日期:1993-02-01 00:00:00
abstract::A patient with multiple injuries developed a severe coagulation defect due to a deficiency of vitamin K. None of the usual predisposing factors was present and the patient's diet was very poor. Dietary deficiency of vitamin K and the importance of antibiotic therapy in its production are discussed. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.30.12.1147
更新日期:1977-12-01 00:00:00
abstract:AIMS:To assess the significance of flat epithelial atypia (FEA) on core biopsy by evaluating the proportion of cases upgraded to in-situ and invasive carcinoma on further sampling with vacuum-assisted biopsy (VAB) or diagnostic surgical biopsy. METHODS:A retrospective analysis was performed of all core biopsies contai...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200176
更新日期:2011-11-01 00:00:00
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
pub_type: 杂志文章
doi:10.1136/jcp.41.6.660
更新日期:1988-06-01 00:00:00
abstract::Eight strains of Moraxella phenylpyruvica have been isolated from clinical material in the United Kingdom, the first to be reported from this country. They were characterized, together with three strains of M. phenylpyruvica of the National Collection of Type Cultures (NCTC), and compared with NCTC strains of eight ot...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.11.959
更新日期:1972-11-01 00:00:00
abstract:AIMS:To develop a rapid, sensitive, and specific non-isotopic in situ hybridisation (NISH) procedure for the detection of Epstein-Barr virus in formalin fixed, paraffin wax embedded tissues. METHODS:Two low molecular weight RNAs, designated EBER-1 and EBER-2 (Epstein-Barr encoded RNA), were used: cells latently infect...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.7.616
更新日期:1992-07-01 00:00:00
abstract:AIM:To evaluate the sources of fetal haemoglobin (HbF) as an indicator in cancer. An immunohistochemical study was carried out on some of the most common kinds of cancer. All of these cancers had serologically high levels of HbF as evaluated previously. METHODS:Immunoaffinity-purified anti-HbF was immunohistochemicall...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.029934
更新日期:2006-06-01 00:00:00
abstract:AIMS:To determine the possible histogenesis of the intracranial variant of olfactory neuroblastoma. METHODS:Four specimens from three cases of intracranial olfactory neuroblastoma were studied by light microscopy and immuno-histochemistry, and electron microscopy in two cases. RESULTS:Light microscopical examination ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.4.299
更新日期:1992-04-01 00:00:00
abstract::A modified nitroblue tetrazolium test (NBT) is described which is suitable for routine application in the haematology or bacteriology laboratory and which provides a rapid aid to the diagnosis of bacterial infection. Hitherto published methods have recommended the use of heparinized whole blood samples for the perform...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.26.1.52
更新日期:1973-01-01 00:00:00
abstract:AIM:Recent events surrounding postmortem practices have necessitated several changes in the way necropsies are conducted both within the medicolegal and hospital settings. These changes have resulted in a striking reduction in the frequency of brain retention for neuropathological examination. Aberdeen Royal Infirmary,...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.028274
更新日期:2006-04-01 00:00:00
abstract::A thin-layer chromatographic method for the simultaneous assessment of formimino-glutamic (Figlu) and urocanic acid excretion after loading with 15 g. histidine has been applied to 15 control subjects and to 49 selected patients. Upper limits of normal excretion were determined for urocanic acid and Figlu alone (15 mg...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.19.1.37
更新日期:1966-01-01 00:00:00
abstract::A 68 year old diabetic man developed septicaemia and multiple liver abscesses due to Streptococcus intermedius. Liver biopsy revealed streptococcal botryomycosis which showed the Splendore-Hoeppli phenomenon. Diabetes mellitus is an example of the immunosuppressed states that have been associated with botryomycosis. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.51.5.399
更新日期:1998-05-01 00:00:00
abstract::This paper records the results of the intravenous inoculation of chick embryos with type 5 gonococci and establishes that these strains are pathogenic. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.31.5.437
更新日期:1978-05-01 00:00:00
abstract:BACKGROUND:Over 90% of Ewing's sarcoma/primitive neuroectodermal tumour (ES/PNET) cases have the t(11;22) chromosomal rearrangement, which is also found in other small round cell tumours, including desmoplastic small round cell tumour (DSRCT) and clear cell sarcoma (CCS). Although this rearrangement can be analysed by ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2004.025502
更新日期:2005-10-01 00:00:00
abstract::Pathological findings are described in four cases of a new aminoaciduria in which homocystine is excreted in the urine. All the patients were mentally retarded children. Three of them presented diagnostic features of Marfan's syndrome. Necropsy on one case and biopsy findings in the others are described. Fatty change ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.17.4.427
更新日期:1964-07-01 00:00:00
abstract::The finding of raised growth hormone concentrations in patients with secondary malignancy in the liver is reported. These concentrations were significantly higher than those found in patients with primary malignancy only or in those with non-hepatic secondaries. A wide range of malignancies was investigated and the hi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.8.935
更新日期:1983-08-01 00:00:00
abstract::Toxoplasmosis is an infection, congenital or acquired, caused by Toxoplasma gondii. A pilot study using toxoplasmin skin antigen was undertaken to establish the incidence of the infection in the London area as a preliminary to a larger study of the effects of the infection upon pregnancy, the foetus, and the newborn i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.22.6.649
更新日期:1969-11-01 00:00:00
abstract::The sensitivity of an indirect immunofluorescence antibody test (IFAT) and a rapid microagglutination test (RMAT) for the diagnosis of Legionnaires' disease caused by Legionella pneumophila serogroup 1 was evaluated using serum specimens from 119 patients with bacteriologically confirmed infections. The sensitivity of...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.1.77
更新日期:1987-01-01 00:00:00
abstract:AIM:To determine whether sampling the anterior and posterior cervical lips in hysterectomy specimens provides the best opportunity for detecting unsuspected cervical intraepithelial neoplasia (CIN). METHODS:The frequency with which CIN was identified at a range of positions on the anterior and posterior lips and left ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.4.323
更新日期:1995-04-01 00:00:00
abstract:AIM:We examined the genetic alterations in a mother and son with multiple eosinophilic chromophobe renal cell carcinomas (chRCCs) showing no other features. METHODS:Germline DNA and bilateral renal cell carcinoma DNA were genetically analysed by whole-exome sequencing. Candidate gene alterations in the first patient's...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205211
更新日期:2018-10-01 00:00:00
abstract::Serum alanine aminotransferase (ALT) and gamma-glutamyltransferase (gamma-GT) activities were measured in over 2000 north London blood donors. The results were compared with those from the United States. The percentage of the total donor population with ALT activities above 40 IU/l in 1986 was greater than that found ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.11.1340
更新日期:1987-11-01 00:00:00
abstract:AIMS:Marked thrombocytosis is uncommon in chronic myelogenous leukaemia (CML) but may be associated with mutation of JAK2 V617F, calreticulin (CALR) and/or phospho-STAT5 (p-STAT5) activation in other myeloproliferative neoplasms (MPNs), particularly essential thrombocythaemia (ET). We investigated the JAK2 V617F, CALR ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2015-203498
更新日期:2016-08-01 00:00:00
abstract::When the posture was changed from horizontal to vertical, or the reverse, the alteration in plasma volume and in the levels of haematocrit, haemoglobin, and plasma protein was much greater in patients with oedema or low plasma protein or albumin concentrations ("the pathological group") than in patients without these ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.13.4.304
更新日期:1960-07-01 00:00:00
abstract::Two unusual ovarian tumours thought to be of Wolffian identity, one of them malignant, are described. They showed packed combinations of adenopapillary, tubular, trabecular and diffuse patterns, a sharp and generalised periodic acid-Schiff (PAS)-positive basement membrane and areas of elastic network. A review of publ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.35.5.526
更新日期:1982-05-01 00:00:00