The history of the glycogen storage diseases.
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Biomedical subjects
Publications and source records attributed to J Fernandes.
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This survey examined the nutrition-related practices and office services of primary care physicians, and their preferred nutrition topics and educational methods. Respondents were 960 physicians from across the United States who were members of the Society of General Internal Medicine. A four-page mailed questionnaire with 21 items queried background information, nutrition-related clinical practices and office support systems, perceived self-efficacy for nutrition assessment and counseling, and nutrition-related educational preferences. Two-thirds of the respondents said they personally provided nutrition counseling. They reported moderate self-efficacy for nutrition counseling and lower confidence for using specific relapse prevention strategies. Greatest interest in further education related to chronic disease prevention and nutrition for the elderly, provided in convenient formats for practicing physicians.
During embryogenesis, Drosophila melanogaster generates a set of muscles and motoneurons that are restructured during pupal metamorphosis to give rise to an adult motor system. The study of neuromuscular development in embryos and pupae has recently revealed important insights into the cellular and molecular mechanisms controlling both muscle patterning and the establishment of synaptic connections.
OBJECTIVE: To determine if those who produce methane (i.e., have presence of methane in breath) have higher serum cholesterol than those who do not produce methane in subjects with impaired glucose tolerance (IGT). RESEARCH DESIGN AND METHODS: We measured breath gases and fasting serum total and high-density lipoprotein (HDL) cholesterol and triglyceride (TG) levels in 21 subjects with IGT. RESULTS: The 11 methane-producers were well matched to the 10 non-methane-producers for age, sex, and body mass index. Methane-producers had higher fasting serum total (6.5 +/- 0.3 vs. 5.5 +/- 0.2 mmol/l; P < 0.02) and low-density lipoprotein (4.3 +/- 0.3 vs. 3.4 +/- 0.2 mmol/l; P < 0.05) cholesterol concentrations with no difference in TG or HDL levels. CONCLUSIONS: The results suggest that in subjects with IGT, positive methane-producing status may be associated with increased serum cholesterol levels.
Renal transplant patients are often found to have high blood pressure. We studied 12 cyclosporine-treated patients 8-10 days after kidney transplantation by 24-hour ambulatory blood pressure monitoring, and once again at 35-40 days after kidney transplantation. The patients were found to have high mean blood pressure values at 8-10 days after transplantation, with a significant (p < 0.05) decrease at 35-40 days after transplantation (154.2 +/- 4.9/94.4 +/- 2.8 and 142.2 +/- 4.0/88.6 +/- 2.7 mmHg, respectively). A significant (p < 0.05) decrease in blood pressure values was also noted in the second series of measurements, when compared to the first series, in the day-time systolic and in the night-time systolic and diastolic blood pressure values, but not in the day-time diastolic blood pressure values. An abnormal day/night pattern of blood pressure ("non-dipper") was found in these patients in both occasions, with a difference between average blood pressure values during day- and night-time of 1.3/3.0 (systolic/diastolic) and 5.7/7.6 mm Hg at 8-10 and 35-40 days after transplantation, respectively. This tendency towards attenuation of the "non-dipper" pattern occurred in association with the decrease in body weight and of the dose of immunosuppressive drugs. As hemodynamic factors may play a role in both the short and the long-term function and viability of kidney transplant grafts, the high blood pressure and the "non-dipper" pattern of blood pressure found early after kidney transplantation may require a special therapeutic approach.
We have determined the in vitro and in vivo efficacy of the combination of doxorubicin and an anti-transferrin receptor-monoclonal antibody (MAb)-ricin A chain immunotoxin. These agents both possess antineoplastic activity and their differing mechanisms of action and toxicities suggest that they may work well in combination. In vitro cytotoxicity was assayed by the inhibition of both 3H-leucine and 3H-thymidine incorporation into H-MESO-1 human malignant mesothelioma cells. In vivo, tumoricidal activity was determined by the effect of treatment on the survival of nude mice bearing H-MESO-1 as an intraperitoneal xenograft. The effect of doxorubicin on the antitumor activity of immunotoxin was directly compared to that of monensin, a well-described immunotoxin potentiator. The coincubation of doxorubicin (1 microM) with immunotoxin in vitro produced no increase in cytotoxicity or rate of cell kill when compared to immunotoxin alone. The addition of monensin to immunotoxin produced a significant increase in both cytotoxicity and the rate of cell kill. In animal trials, all treated groups demonstrated a significant increase in median survival when compared to controls. Treatment with doxorubicin or immunotoxin produced a mean survival time (MST) of 22 and 23 days, respectively, vs. control MST of 10 days. The combination of immunotoxin and doxorubicin increased the MST to 31 days (p = 0.004 vs immunotoxin or doxorubicin alone). Immunotoxin combined with monensin emulsion produced an increase in survival equivalent to doxorubicin/immunotoxin. The use of all three agents produced an additional improvement in survival. Combinations of standard chemotherapeutic drugs and ricin A chain immunotoxins may have additive antitumor effects in the therapy of solid tumors.
Thallium imaging was performed on a 2-month-old infant with a left coronary artery originating from the pulmonary artery. Imaging was performed before and after corrective surgery, which involved creating a new left coronary osteum from the ascending aorta. The radionuclide study documented successful revascularization postoperatively.
The ability of spermatozoa to reduce nitroxide spin--TEMPO has been used as a parameter to understand maturation, capacitation and calcium uptake of sperm obtained from Holstman strain rats. The rate of spin label reduction by sperm follows the trend--caput greater than cauda greater than corpus. With the increase in age, the electron donating capability shows first a gradual increase, for 60- to 85-day-old rats, peaking at 85 days (corresponding to puberty) and leveling off after 92 days. Calcium uptake takes place in two phases which corresponds to accumulation of and activation by calcium. The presence of polyclonal antibody which is known to cause agglutination, does not adversely affect the sperm activity.
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We have followed the pupal development of the indirect flight muscles (IFMs) of Drosophila melanogaster. At the onset of metamorphosis larval muscles start to histolyze, with the exception of a specific set of thoracic muscles. Myoblasts surround these persisting larval muscles and begin the formation of one group of adult indirect flight muscles, the dorsal longitudinal muscles. We show that the other group of indirect flight muscles, the dorsoventral muscles, develops simultaneously but without the use of larval templates. By morphological criteria and by patterns of specific gene expression, our experiments define events in IFM development.
Modern medical technology has made available a complex array of testing methods for drugs of abuse. The gathering of the best information from these methods demands that the clinician be familiar with the different testing protocols. In this, the third article in a monthly series, the authors discuss the more common and useful tests and describe their use for optimal results.
Lyme disease is a common inflammatory disease of North America. It is caused by the spirochetal bacterium Borrelia burgdorferi, which is transmitted by the bite of a small tick, Ixodes dammini. The disease is inconsistent in its manifestation, mimicking a wide variety of maladies, many of which are noninfectious. Currently, there is no practical means for detection of the presence of the organism, and serologic studies offer the best diagnostic aid. High titers of either immunoglobulin G (IgG) or immunoglobulin M (IgM) antibodies to B burgdorferi antigens indicate disease, but lower titers can be misleading. The IgM antibodies may remain after the initial infection, and IgG antibodies may remain for years. Antibiotic therapy early in the infection may interfere with antibody production, but therapy later does not appear to have a significant effect on antibody levels. Because several methods are available for the detection of antibodies and several choices for antibody detected--IgM, IgG, or combinations--the clinical laboratory should provide guidance and advice in choosing and interpreting tests.
Blood glucose self-monitoring offers several advantages. This article, the first in a series, focuses on the types of monitors currently marketed and their limitations. Because optimal patient care rests with operator training, this article also places emphasis on the need to properly train those who will be performing blood glucose monitoring.
The technologic advance that enables measurement of the volume of each red blood cell is available through third-generation hematology analysis. The information generated, expressed as the red blood cell distribution width (RDW), can be diagnostically useful. With the RDW, as with all laboratory data, there can be overlap between distributors of both healthy and anemic persons. Awareness of these limitations can assist the primary care physician in the use of these data.
The anatomical presentations and subsequent biological behavior of mammary cancer reflect the heterogeneity of this tumor. Therapeutic decisions, prognostic indicators and outcome analysis became most meaningful when variations in these tumors are identified. The pathological features that best reflect the biological behavior of mammary cancer that have stood the test of time include tumor invasiveness, tumor size, histologic features, axillary node status, and hormone status. Recent data suggest that DNA ploidy and S-phase analysis not only complement tissue hormonal prognostic factors, but also may be of use in predicting the biological behavior of node-negative patients.
Use of the Papanicolaou smear for screening patients for cervical cancer has reduced the mortality of invasive squamous cell cervical cancer. The continuum of cellular abnormalities leading to invasive carcinoma have been carefully studied through cytologic evaluation. Through this process, terminology has changed, and the concept of cervical intraepithelial neoplasia has developed. Improved reporting of the cytologic abnormalities will not only lead to institution of appropriate therapy but also to a reduction in the number of false-negative results of cytologic studies. Improved communication between the cytopathologist and the attending clinician, as recommended by the Bethesda system, attempts to refine the process of appropriate patient care in the detection and treatment of cervical carcinoma and its precursor states.
In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hypercholesterolaemia, however, were still present in half of the patients.