Stress fracture of the capitate.
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Adult↗
Biomedical subjects
H Allen
Publications and source records attributed to H Allen.
Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Fucosidosis is an autosomal recessive lysosomal storage disease resulting from absence of alpha-L-fucosidase activity. Lymphoid cell lines from two siblings with fucosidosis and a healthy individual (control) had alpha-L-fucosidase mRNA of normal size (2.3 kb) but the level of alpha-L-fucosidase mRNA in the patients' cells was reduced. cDNA was prepared and amplified from alpha-L-fucosidase mRNA of lymphoid cells of the patients, their carrier parents, and the control. Direct DNA sequencing demonstrated three mutations in the fucosidosis family. One mutation, C1282-->T, changed the codon (CAA) for Gln-422 to a stop codon (UAA). This mutation was heterozygous (C and T) in the patients and their father and independently confirms an earlier report (J. Mol. Neurosci. (1989) 1, 177). Another mutation, C247-->T, changed the codon (CAG) for Gln-77 to a stop codon (UAG) and was heterozygous (C and T) in the patients and their mother. The third mutation, A860-->G, changed the codon CAG for Gln-281 to the codon (CGG) for Arg and was heterozygous (A and G) in the patients but homozygous in their father. alpha-L-Fucosidase activity in cells of the father was 37% of controls indicating that homozygosity of the A860-->G mutation did not cause an absence of alpha-L-fucosidase activity and fucosidosis. This mutation probably results in a normal polymorphic variant of alpha-L-fucosidase. It is proposed that the combination of the C247-->T mutation on the maternal allele of the alpha-L-fucosidase gene and the C1282-->T mutation on the paternal allele caused fucosidosis in the patients.
B-Lymphocytes↗
Rehabilitation and staffing levels in a 'new look' hospital-hostel.
The present study examined the utility of a new hospital-hostel with low staffing levels. Results showed that the hostel was able to maintain 9 of the 10 initially transferred patients and has been able to provide some improvements in their quality of life. However, unlike highly staffed hospital-hostels, it was not able to decrease patients' disabilities. Implications of this are discussed in relation to staffing levels and practices.
Activities of Daily Living↗
Telephone advice in the accident and emergency department: a survey of current practice.
The objective of this study was to assess the standard of advice given by telephone by accident and emergency (A&E) departments following patients' enquiries. In order to do this patient enquiries were simulated and a telephone questionnaire was carried out. The study was carried out in 18 major and 16 minor A&E departments in Wales. Results achieved were that overall, correct telephone advice was given to 72 of 97 simulated patients (74%). Sixty calls were dealt with by the nursing staff (62%) who gave correct advice on 41 (68%) occasions. No A&E department had a formal policy nor provided staff training for handling patients' enquiries by telephone. It is concluded that A&E departments should train designated members of staff, preferably the triage nurse, who would formally deal with telephone enquiries requiring medical advice. There should be formal documentation of the enquiry and advice proffered as part of a departmental policy.
Counseling↗
The design of trials for prevention of IDDM.
Several large clinical trials for the prevention of IDDM in islet cell antibody positive first-degree relatives are planned or underway. The design of these trials rests in part on assumptions about the natural history of autoimmunity during the prediabetic period and on the likely effectiveness of the intervention being tested. At this time, most of the factors that influence the required sample size can only be roughly estimated.
Clinical Trials as Topic↗
Efficacy of vital home bleaching.
The nightguard vital bleaching technique has become a very common and accepted procedure for many dental practitioners. Much has been written about the procedure's history, safety and technique; little has been done to quantify the specific color changes of teeth resulting it. This clinical study attempted to give a numerical value to the color change through the use of a light transmission densitometer. The maxillary teeth of twenty-five patients were treated as the control. A significant whitening was observed for a majority of the patients during the four-week duration of the study.
Adult↗
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.
Fucosidosis is an autosomal recessive, lysosomal storage disease featured by deficient activity of alpha-L-fucosidase. Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained alpha-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot analysis. cDNA was prepared from alpha-L-fucosidase mRNA of JT and control cells and each cDNA was amplified by the polymerase chain reaction. Direct DNA sequencing of the amplified products revealed a single mutation in JT, a G1141-->T transition. This changed the codon (GAA) for Glu-375 to a stop codon (UAA). Amplification and sequencing of the area containing the G1141-->T transition in genomic DNA of JT and control cells demonstrated that the mutation was homozygous in JT. Analysis of cDNA and genomic DNA derived from lymphoid cells of mother JT revealed her to be heterozygous (G and T) at position 1141. The G1141-->T mutation is probably responsible for disease in JT.
B-Lymphocytes↗
Structural requirements for the peptide-induced conformational change of free major histocompatibility complex class I heavy chains.
In an attempt to define the structural features of peptides which are important for inducing the folding of free class I heavy chains in the absence of beta 2-microglobulin, and to determine whether they are the same as those required to form stable major histocompatibility complex (MHC): peptide adducts, we have used a panel of peptides related to the Db-binding nonamer ASNENMDAM (influenza nucleoprotein residues 366-374) with altered primary structures, and a number of other peptides which have the Db-binding "motif". In this way, we have shown that in addition to the "anchor" residues which define this motif, the alpha amino and carboxyl groups at the N and C termini also play a major role in both inducing the conformational change in free heavy chain (HC) and formation of a stable Db:peptide complex. We also show that the importance of the key residues is affected by the primary sequence "context" in which they appear. In addition, we have extended our original finding that naturally processed epitopes induce a conformational change in free HC to the H2Kb HC, and show that the effect does not require the presence of the class I alpha 3 domain.
Amino Acid Sequence↗
Carbon monoxide poisoning in a diver.
Carbon monoxide poisoning is a well recognized, but uncommon hazard of sport and inshore diving, which occurs either as a result of a faulty air compressor or from air contamination by the exhaust of nearby petrol engines. The incidence of carbon monoxide poisoning may be under-reported as it may mimic decompression sickness, and respond to the same treatment i.e. hyperbaric oxygen.
Adult↗
Phase II trial of intravenous 6-thioguanine for unresectable or metastatic non-small cell bronchogenic carcinoma.
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Aged↗
Meet the president--and his father. Interview by P. Ralph Crawford.
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Canada↗
Expression of epidermal-growth-factor receptor in the K562 cell line by transfection. Altered receptor biochemistry.
The epidermal-growth-factor (EGF) receptor was expressed in the human erythroleukaemic cell line K562 by transfection of the receptor cDNA. EGF-receptor biochemistry appears altered in the K562 transfectants. Autophosphorylation of the K562 receptor is not stimulated substantially by EGF. Tyrosine kinase activity of the receptor is high in the absence of EGF, whereas receptor affinity for EGF is low. K562 cells are shown to lack mRNA for transforming growth factor alpha (TGF alpha). Therefore autocrine stimulation of the K562 receptor, at least by TGF alpha, does not explain the observed receptor biochemistry. The K562 receptor is phosphorylated at a single major site in intact cells, a threonine residue that may be Thr-669. Possible mechanisms of regulation of the EGF receptor in the K562 transfectants are discussed.
DNA↗
Studying the effects of the DRG-based prospective payment system on quality of care. Design, sampling, and fieldwork.
We have conducted a nationally representative before-after study of the effects of the diagnosis related groups-based prospective payment system (PPS) on quality of in-hospital care for aged Medicare patients. We used a pre-post design with multiple time points in both the pre-PPS (calendar years 1981 and 1982) and post-PPS (July 1985 through June 1986) periods. We gathered clinically detailed data from medical records of patients with one of six diseases and supplemented these data with postdischarge information from Health Care Financing Administration files. We used a stratified multistage cluster sampling design with data gathered on 16,758 patients chosen from 297 hospitals in 30 areas in five states. Our hospital participation rate was 97%; we successfully accessed 96% of the medical records we requested; and our mean item-level reliability score was 0.80. Our sample matches the nation closely on hospital urbanicity, size, teaching status, ownership, and percentages of Medicare and Medicaid patients, and patient demographics and mortality.
Cross-Sectional Studies↗
Cognitive processing and its relationship to symptoms and social functioning in schizophrenia.
This study analyses the relationship between contextual processing ability and symptom and social status in schizophrenia. The results showed that current symptom status is related to occupational status, and contextual processing is related to current symptom status and employment history. Current symptom severity in chronic schizophrenics may indicate an increased frequency and/or duration of symptom episodes in the past, and therefore an increase in the periods in which contextual processing was disturbed, which would therefore account for the observed decrease in work achievements.
Adult↗
Specific molecular interaction between the insulin receptor and a D product of MHC class I.
The density of MHC class I was determined on a murine thymoma cell line (R1), an H-2 negative variant (R1E), and R1E-derived cell lines in which H-2 expression was restored by transfection of various MHC class I genes (Db, Kb, and truncated Db) and/or a beta-2-microglobulin gene (beta 2-m; B2). Appreciable MHC class I expression was found on R1 cells and on the variants in which MHC class I expression was restored by transfection of Db/beta 2-m or Kb/beta 2-m genes. Only approximately 20% difference was observed between the number of Db molecules and Kb molecules on the R1E/B2/Db and on R1E/B2/Kb, respectively. However, specific insulin binding was significantly different between these lines. By using a computer assisted curve fitting program, the insulin binding data for R1 and R1E/B2/Db cell lines best fitted a two-site model (K approximately 6 x 10(-9) M for high-affinity sites and a 2 to 3 x 10(-7) M for low-affinity sites), whereas all other lines only expressed one type of insulin binding site. These sites were unrelated to IGF-I and IGF-II receptors. Cross-linking of 125I-labeled insulin demonstrated specific binding of the ligand to a Mr approximately 130,000 dalton band in all lines. In the R1E/B2/Db cells, insulin also cross-linked to cell membrane molecules with Mr approximately 48,000 and approximately 60,000 Da, which were identified by immunoprecipitation to be the H chain of MHC class I and the heavy chain of MHC class I plus beta 2-m, respectively. It is concluded that the insulin receptors in the cell membrane interact specifically with D-products of MHC class I and that class I molecules of MHC may have a crucial role in insulin receptor expression. This may reflect a more general nonimmunologic role of MHC class I.
Animals↗
Role of beta 2-microglobulin in the intracellular transport and surface expression of murine class I histocompatibility molecules.
We have examined the requirement for beta 2-microglobulin (beta 2m) in the intracellular transport of murine class I histocompatibility molecules to the cell surface. R1E cells that are defective in the synthesis of beta 2m were transfected with either the class I H-2Kb or H-2Db genes alone, or together with the beta 2m gene. Kb or Db heavy chains synthesized in the presence of beta 2m were transported rapidly through the cell and expressed efficiently at the cell surface. In the absence of beta 2m, no "free" Kb heavy chains were detectable at the cell surface and their intracellular transport was blocked at an early stage. In contrast, a significant quantity of "free" Db heavy chains could be detected at the cell surface as we have reported previously. However, we have shown here that defects in intracellular transport were apparent in that the majority (approximately 70%) of newly synthesized Db heavy chains accumulated intracellularly and were degraded. Therefore, although Kb and Db heavy chains differ in their abilities to be expressed at the cell surface in the absence of beta 2m they both require association with beta 2m for efficient intracellular transport. In addition, R1E cells transfected with a deletion construct of the Kb gene expressed a truncated molecule lacking the alpha 3 extracellular domain (Kb-3) at the cell surface, but, like free Db, most newly synthesized Kb-3 molecules accumulated intracellularly. The free Kb, Kb-3, and Db heavy chains were not recognized by most mAb specific for Kb and Db, respectively. Therefore, even the transported forms of free Db and Kb-3 were not native in conformation, which is surprising given the current view that correct folding is essential for intracellular transport. Interestingly, the free Db and Kb-3 heavy chains that reached the cell surface differed in their detergent binding properties from those retained within the cell. This suggests that the transported heavy chains may have folded differently thus allowing their export to the cell surface.
Animals↗
Birth-interval dynamics in rural Bangladesh and maternal weight.
This article reports on the results of a study conducted in rural Bangladesh on the influence of maternal weight on the components of birth intervals, including gestation and intrauterine mortality, the duration of postpartum amenorrhea, and the duration of waiting time to conception (the menstrual interval). When biological factors (including maternal age, parity, and supplementation practices) and behavioral variables, including religion, education, and occupation, were controlled, maternal weight was found to be related to the risk of intrauterine mortality and to the probability of resuming menses in the postpartum period. The implications of these findings for policies and programs in developing countries are discussed.
Amenorrhea↗
Mechanisms of bronchial hyperreactivity in cystic fibrosis.
We studied 14 patients with cystic fibrosis (CF) who had evidence of bronchial hyperreactivity on a standardized histamine challenge. Patients had a histamine challenge on the first day. Then they were pretreated with either 0.25 mg ipratropium bromide or 0.5 mg fenoterol hydrobromide on 2 separate days, and the histamine challenge was repeated. Baseline forced expiratory volume in 1 sec was similar on the 3 days; however, there was a small but significant (P less than 0.05) improvement after fenoterol. Mean PC20 on the control day was 1.50 mg/ml, which increased significantly after pretreatment with ipratropium (2.88 mg/ml, P less than 0.01) and fenoterol (3.64 mg/ml, P less than 0.005), indicating protection against histamine-induced bronchial hyperreactivity. The six CF patients with "coexistent asthma," as defined by recurrent episodes of wheezing responsive clinically to bronchodilator therapy, had no significant protection from ipratropium, whereas the eight "nonasthmatic" CF patients were protected by both ipratropium and fenoterol. We postulate that at least two mechanisms contribute to histamine-induced bronchial hyperreactivity in patients with CF, one related to vagally mediated reflex bronchoconstriction and another that acts independently of this mechanism.
Adolescent↗