tbuckley/cabot-search huggingface dataset:
Chromosome Karyotype 45,X/46,XY Follow-up
Authors: DOROTHY L. WILLIAMS
Journal: Annals of Internal Medicine (1970)

Letters and Comments1 November 1970Chromosome Karyotype 45,X/46,XY Follow-upDOROTHY L. WILLIAMS, M.D., JOHN W. RUNYAN JR., M.D.DOROTHY L. WILLIAMS, M.D.Search for more papers by this author, JOHN W. RUNYAN JR., M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-73-5-859_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: In a review article appearing in the February 1966 issue of the ANNALS, a preliminary report was given of a patient (J.G.H. #379056) with female phenotype and a chromosome karyotype of 45,X/46,XY (1). The patient had not had a laparotomy, and the gonadal sex was unknown. We were unable to locate her for further evaluation until just recently but have now had the opportunity for additional study. Since such follow-up reports are at times neglected, we are submitting this additional information, especially in view of the rarity of such cases in the literature (less than 20 cases...References1. WILLIAMSRUNYAN DJ: Sex chromatin and chromosome analysis in the diagnosis of sex abnormalities. Ann Intern Med 64:422-459, 1966 LinkGoogle Scholar2. MILLER O: The sex chromosome anomalies. Amer J Obstet Gynec 90:1078-1139, 1964 CrossrefGoogle Scholar3. HIRSCHHORNHSU KL: Sex chromosome mosaicism in individuals with a Y chromosome. Clin Delin Birth Defects 5:19-23, 1969 Google Scholar4. TURPINLEJEUNE RJ: Human Affections and Chromosomal Aberrations. New York, Pergamon Press, 1969, pp. 210-211 Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Medicine Section of Endocrinology The University of Tennessee College of Medicine Memphis, Tenn. 38103 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 November 1970Volume 73, Issue 5Page: 859-860KeywordsChromosomesKaryotypesLaparotomyPhenotypes ePublished: 1 December 2008 Issue Published: 1 November 1970 PDF downloadLoading ...
Drug-induced skin diseases.
Authors: R A Hardie, J A Savin
Journal: BMJ (1979)

<h3>Abstract</h3> <h3>Background</h3> Diabetic neuropathy is the most common complication in both Type-1 and Type-2 DM patients with more than one half of all patients developing nerve dysfunction in their lifetime. Although, risk prediction model was developed for diabetic neuropathy in developed countries, It is not applicable in clinical practice, due to poor data, methodological problems, inappropriately analyzed and reported. To date, no risk prediction model developed for diabetic neuropathy among DM in Ethiopia, Therefore, this study aimed prediction the risk of diabetic neuropathy among DM patients, used for guiding in clinical decision making for clinicians <h3>Objective</h3> Prediction of the risk for diabetic neuropathy among diabetes mellitus patients, in selected referral hospitals, Amhara regional state, northwest Ethiopia,2022 <h3>Methods</h3> A retrospective follow up study was conducted with a total of 808 DM patients were enrolled from January 1,2005 to December 30,2021 at two selected referral hospitals in Amhara regional state. Multi-stage sampling techniques were used and the data was collected by checklist from medical records by Kobo collect and exported to STATA version-17 for analysis. Lasso method were used to select predictors and entered to multivariable logistic regression with P-value&lt;0.05 was used for nomogram development. Model performance was assessed by AUC and calibration plot. Internal validation was done through bootstrapping method and decision curve analysis was performed to evaluate net benefit of model <h3>Results</h3> The incidence proportion of diabetic neuropathy among DM patients was 21.29 %(95% CI; 18.59, 24.25).In multivariable logistic regression glycemic control, other comorbidities, physical activity, hypertension, alcohol drinking, type of treatment, white blood cells and red blood cells count were statistically significant. Nomogram was developed, has discriminating power AUC; 73.2 %(95% CI; 69.0%, 77.3%) and calibration test (P-value = 0.45). It was internally validated by bootstrapping method with discrimination performance 71.7(95% CI; 67.2 %, 75.9%).It had less optimism coefficient (0.015).To make nomogram accessible, mobile based tool were developed. In machine learning, classification and regression tree has discriminating performance of 70.2 %(95 % CI; 65.8%, 74.6%).The model had high net benefit at different threshold probabilities in both nomogram and classification and regression tree. <h3>Conclusion</h3> The developed nomogram and decision tree, has good level of accuracy and well calibration, easily individualized prediction of diabetic neuropathy. Both models had added net benefit in clinical practice and to be clinically applicable mobile based tool were developed.
Sneddon's syndrome and primary anti-phospholipid syndrome (PAPS)
Authors: R.A. Asherson, M.A. Khamashta
Journal: British Journal of Dermatology (1990)

Journal Article Sneddon's syndrome and primary anti‐phospholipid syndrome (PAPS) Get access R.A. Asherson, R.A. Asherson The Rayne Institute, St Thomas's Hospital, London SE1 7EH, U.K. Search for other works by this author on: Oxford Academic Google Scholar M.A. Khamashta M.A. Khamashta The Rayne Institute, St Thomas's Hospital, London SE1 7EH, U.K. Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 122, Issue 1, 1 January 1990, Pages 115–116, https://doi.org/10.1111/j.1365-2133.1990.tb08250.x Published: 01 January 1990
Nuclear translocation of UDCA by the glucocorticoid receptor is required to reduce TGF-β1-induced apoptosis in rat hepatocytes
Authors: Susana Solá, Joana D. Amaral, Rui E. Castro, Rita M. Ramalho, Pedro M. Borralho, Betsy T. Kren, Hirotoshi Tanaka, Cifford J. Steer, Cecília M. P. Rodrigues
Journal: Hepatology (2005)

Abstract Ursodeoxycholic acid (UDCA) inhibits classical mitochondrial pathways of apoptosis by either directly stabilizing mitochondrial membranes or modulating specific upstream targets. Furthermore, UDCA regulates apoptosis-related genes from transforming growth factor β1 (TGF-β1)–induced hepatocyte apoptosis by a nuclear steroid receptor (NSR)–dependent mechanism. In this study, we further investigated the potential role of the glucocorticoid receptor (GR) in the antiapoptotic function of UDCA. Our results with short interference RNA (siRNA) technology confirmed that UDCA significantly reduces TGF-β1–induced apoptosis of primary rat hepatocytes through a GR-dependent effect. Immunoprecipitation assays and confocal microscopy showed that UDCA enhanced free GR levels with subsequent GR nuclear translocation. Interestingly, when a carboxy-terminus deleted form of GR was used, UDCA no longer increased free GR and/or GR translocation, nor did it protect against TGF-β1–induced apoptosis. In co-transfection experiments with GR response element reporter and overexpression constructs, UDCA did not enhance the transactivation of GR with TGF-β1. Finally, using a flourescently labeled UDCA molecule, the bile acid appeared diffuse in the cytosol but was aggregated in the nucleus of hepatocytes. Both siRNA assays and transfection experiments with either wild-type or mutant forms of GR showed that nuclear trafficking occurs through a GR-dependent mechanism. In conclusion , these results further clarify the antiapoptotic mechanism(s) of UDCA and suggest that GR is crucial for the nuclear translocation of this bile acid for reducing apoptosis. (Hepatology 2005;42:925–934.)
Relevance of risk assessment to exposed communities.
Authors: C Brickey
Journal: Environmental Health Perspectives (1995)

Current environmental policy tends to evaluate potential, theoretical exposure to health risks by evaluating one chemical or hazard at a time. Risk assessment techniques used by the U. S. Environmental Protection Agency (EPA) and other government agencies do not evaluate the cumulative impact of exposure to environmental contaminants. This problem is of particular significance to low-income and minority populations who tend to live in neighborhoods and work in locations that involve exposure to pollutants in air, water, and workplace activity. Certain areas within the border typify this lifestyle. The problem is further complicated by the fact that EPA operates separate programs for different "media." Exposure patterns in the border suggest the need for a cross-media pollution prevention approach. Minority recruitment into health research, a coordination of research approaches and dollars, and new resources for effective monitoring of minority communities could provide a basic assessment of the risks and their sources. Further research into the cumulative impacts of prevalent subsets of chemicals is also needed. Recent efforts in the Great Lakes may provide a model for this type of regional, cross-border effort.
Analysis of the hepatitis C virus genome in patients with anti-LKM-1 autoantibodies
Authors: Martina Gerotto, Patrizia Pontisso, Fabrizio Giostra, Raffaella Francesconi, Luigi Muratori, Giorgio Ballardini, Marco Lenzi, Sergio Tisminetzky, Francesco B. Bianchi, Francisco B. Baralle, Alfredo Alberti
Journal: Journal of Hepatology (1994)
Tumor-Specific CD8+ T Cell Reactivity in the Sentinel Lymph Node of GM-CSF–Treated Stage I Melanoma Patients is Associated with High Myeloid Dendritic Cell Content
Authors: Ronald J.C.L.M. Vuylsteke, Barbara G. Molenkamp, Paul A.M. van Leeuwen, Sybren Meijer, Pepijn G.J.T.B. Wijnands, John B.A.G. Haanen, Rik J. Scheper, Tanja D. de Gruijl
Journal: Clinical Cancer Research (2006)

Abstract Purpose: Impaired immune functions in the sentinel lymph node (SLN) may facilitate early metastatic events during melanoma development. Local potentiation of tumor-specific T cell reactivity may be a valuable adjuvant treatment option. Experimental Design: We examined the effect of locally administered granulocyte/macrophage-colony stimulating factor (GM-CSF) on the frequency of tumor-specific CD8+ T cells in the SLN and blood of patients with stage I melanoma. Twelve patients were randomly assigned to preoperative local administration of either recombinant human GM-CSF or NaCl 0.9%. CD8+ T cells from SLN and peripheral blood were tested for reactivity in an IFNγ ELISPOT assay against the full-length MART-1 antigen and a number of HLA-A1, HLA-A2, and HLA-A3–restricted epitopes derived from a range of melanoma-associated antigens. Results: Melanoma-specific CD8+ T cell response rates in the SLN were one of six for the control group and four of six for the GM-CSF-administered group. Only one patient had detectable tumor-specific CD8+ T cells in the blood, but at lower frequencies than in the SLN. All patients with detectable tumor-specific CD8+ T cells had a percentage of CD1a+ SLN-dendritic cells (DC) above the median (i.e., 0.33%). This association between above median CD1a+ SLN-DC frequencies and tumor antigen–specific CD8+ T cell reactivity was significant in a two-sided Fisher's exact test (P = 0.015). Conclusions: Locally primed antitumor T cell responses in the SLN are detectable as early as stage I of melanoma development and may be enhanced by GM-CSF-induced increases in SLN-DC frequencies.
New York City, April 1911
Authors: JEFFREY I. COHEN
Journal: Annals of Internal Medicine (1984)

Ad Libitum1 November 1984New York City, April 1911JEFFREY I. COHEN, M.D.JEFFREY I. COHEN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-101-5-715_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptNow begins the final movementSailing from the strains of The New WorldAcross the AtlanticHome for a long deserved rest.Years ago I hunted the forests of AustriaListening for songs rising from the earth.I captured them in five-railed fencesAnd penned them in my composition books.When the fall came in 1907Dr. Blumenthal auscultated the first murmursThe babbling of a stream over the leafletsOf a weakened heart.Thereafter I conducted myself faithfullyFollowing the rhythms I felt withinMeasuring my steps with great precisionTo avoid the hectic palpitations.Still, I noted the... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Durham, North Carolina PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 November 1984Volume 101, Issue 5Page: 715-715KeywordsFallsHeartRivers ePublished: 1 December 2008 Issue Published: 1 November 1984 PDF downloadLoading ...
Contraindications to Long-Term Fasting
Authors: Frank B. Norbury
Journal: JAMA (1964)

<h3>To the Editor:—</h3> The recent communication, "Prolonged Starvation as Treatment for Severe Obesity," by Drenick et al (<i>JAMA</i><b>187</b>:100 [Jan 11] 1964) and your editorial in the same issue emphasize some of the hazards of starvation treatment. It appears that the protein catabolism which occurs in starvation can be safely handled by patients with normal kidneys, but a recent unfortunate experience with a patient whom I saw in consultation indicates that this is not the case when there is kidney disease: The patient was an 18-year-old boy who weighed 365 lb (166 kg) and had mild hypertension. He showed no clinical signs of renal disease, and routine urinalyses were normal. He was placed on a complete fast and lost 40 lb (18 kg) in 14 days, but toward the end of this period went abruptly into a stage of vomiting and then coma. He was found to have a
FDG-PET/CT Imaging for Mediastinal Staging in Patients With Potentially Resectable Non–Small Cell Lung Cancer
Authors: Mia Schmidt-Hansen, David Raymond Baldwin, Javier Zamora
Journal: JAMA (2015)

<h3>Clinical Question</h3> What is the sensitivity and specificity of<sup>18</sup>F-fludeoxyglucose–positron emission tomography/computed tomography (FDG-PET/CT) imaging for detecting mediastinal lymph node involvement in patients with potentially resectable non–small cell lung cancer (NSCLC)? <h3>Bottom Line</h3> Sensitivity and specificity of FDG-PET/CT imaging ranged from 0.77 to 0.81 for sensitivity and 0.79 to 0.90 for specificity, and were related to the brand of scanner, NSCLC subtype, FDG dose, and country of study origin. These sensitivities and specificities are not sufficiently accurate to warrant reliance on FDG-PET/CT scanning alone to make decisions about surgery as a single option for patients with potentially resectable NSCLC. Instead FDG-PET/CT imaging should be used to determine whether the next step should be biopsy (endobronchial ultrasound–guided biopsy or mediastinoscopy) or surgical resection.
Increased nitric oxide in exhaled air of normal human subjects with upper respiratory tract infections
Authors: SA Kharitonov, D Yates, PJ Barnes
Journal: European Respiratory Journal (1995)

Viral infection may induce the expression of nitric oxide (NO) synthase, resulting in increased NO formation that has an antiviral effect. NO may be produced by various cells of the upper and lower respiratory tract, and may be detected in the exhaled air. We have studied the levels of exhaled NO in 18 normal subjects during symptomatic upper respiratory tract infections and during recovery 3 weeks later. Exhaled NO was measured using a modified chemiluminescence analyser. At the time of symptoms of upper respiratory tract infection, the peak exhaled NO values were 315 +/- 57 ppb (mean +/- SEM) and decreased to 87 +/- 9 ppb during recovery. Recovery values of exhaled NO were similar to those reported in age-matched normal control subjects (88 +/- 3 ppb, n = 72). These findings suggest that symptomatic upper respiratory tract infections markedly increase the concentration of NO in exhaled air. This may reflect the induction of nitric oxide synthase (NOS) in upper and lower respiratory tract, and may be relevant to viral exacerbations of asthma.
Patient Consent for Publication
Authors: Bruce M. Rothschild
Journal: JAMA (1997)

<h3>To the Editor.</h3> —Dr Clever's article<sup>1</sup>on informed consent raises important issues that are too often overlooked. There is, however, a simple solution that may be reasonable to pursue: Grant the patient coauthorship. After all, authorship is determined by the relative contribution of each participating individual to the study. If the report describes that individual in detail, he or she certainly has made a major contribution to the report. We have taken this approach in the past<sup>2,3</sup>and would encourage our colleagues to consider this option.
Hyperadrenergic syndrome in severe tetanus: extreme rise in catecholamines responsive to labetalol.
Authors: G M Domenighetti, G Savary, H Stricker
Journal: BMJ (1984)

The hyperadrenergic syndrome that occurs in tetanus is characterised by hypertension, tachycardia, and increased systemic arteriolar resistance. A 74 year old man with tetanus was found to have very high catecholamine concentrations--as high as those in phaeochromocytoma--and the fluctuations in blood pressure and heart rate were measured to see whether they paralleled changes in the catecholamine values. A labetalol infusion of 0.25-1 mg/min gradually stabilised the cardiovascular disturbances and the patient recovered.
195. Non-Viral, Site-Specific Gene Transfer into Murine Hematopoietic Stem Cells
Authors: Jason J. Hoyt, Annahita Keravala, Jennifer Duda, Chris H. Contag, Michele P. Calos
Journal: Molecular Therapy (2005)

Gene therapy into hematopoietic stem cells (HSC) provides the potential to correct a large range of disorders. To date, the most successful strategy for delivering genes to HSC has been with retroviral vectors. While gene transfer is efficient with these vectors, they possess limitations such as random integration, limited size capacity, low vector titers, and position effect silencing. We are developing the phiC31 integrase as a non-viral and site-specific alternative to retroviral transduction of HSC. The integrase approach involves delivering the gene of interest as a plasmid also containing the integrase recognition site attB. The integrase pairs attB with endogenous sequences similar to the attP recognition site and catalyzes genomic integration. The system has been used successfully in gene therapy experiments in mouse liver and muscle, human skin, rat retina, and rabbit joints.
A Clinical Appraisal of Pentapyrrolidinium (M&amp;B 2050) in Hypertensive Patients
Authors: EDWARD D. FREIS, EDWARD A. PARTENOPE, LAWRENCE S. LILIENFIELD, JOHN C. ROSE
Journal: Circulation (1954)

The new ganglionic blocking agent, pentapyrrolidinium or M&amp;B 2050, appears to have several distinct advantages over hexamethonium in the treatment of severe hypertension. These advantages include longer duration of action, greater potency, less tolerance, less interference with intestinal motility, and, most important, a more uniform response from day to day on oral administration. However, critical adjustment of dosage is necessary and side effects are not infrequent, the most disturbing being postural faintness and impotence.
Parathyroid Mitogenic Activity in Plasma from Patients with Familial Multiple Endocrine Neoplasia Type 1
Authors: Maria Luisa Brandi, Gerald D. Aurbach, Lorraine A. Fitzpatrick, Rodolfo Quarto, Allen M. Spiegel, M. Michael Bliziotes, Jeffrey A. Norton, John L. Doppman, Stephen J. Marx
Journal: New England Journal of Medicine (1986)

Hyperplasia of the parathyroid glands is a central feature of familial multiple endocrine neoplasia type 1. We used cultured bovine parathyroid cells to test for mitogenic activity in plasma from patients with this disorder. Normal plasma stimulated [3H]thymidine incorporation, on the average, to the same extent as it was stimulated in a plasma-free control culture. This contrasted with the results of the tests with plasma from patients with familial multiple endocrine neoplasia type 1, in which parathyroid mitogenic activity increased 2400 percent over the control value (P<0.001). Plasma from these patients also stimulated the proliferation of bovine parathyroid cells in culture, whereas plasma from normal subjects inhibited it. Parathyroid mitogenic activity in plasma from the patients with familial multiple endocrine neoplasia type 1 was greater than that in plasma from patients with various other disorders, including sporadic primary hyperparathyroidism (with adenoma, hyperplasia, or cancer of the parathyroid), sporadic primary hypergastrinemia, sporadic pituitary tumor, familial hypocalciuric hypercalcemia, and multiple endocrine neoplasia type 2 (P<0.05). Parathyroid mitogenic activity in the plasma of patients with familial multiple endocrine neoplasia type 1 persisted for up to four years after total parathyroidectomy. The plasma also had far more mitogenic activity in cultures of parathyroid cells than did optimal concentrations of known growth factors or of any parathyroid secretagogue. This mitogenic activity had an apparent molecular weight of 50,000 to 55,000. We conclude that primary hyperparathyroidism in familial multiple endocrine neoplasia type 1 may have a humoral cause. (N Engl J Med 1986; 314:1287–93.)
The Clinical Course of Diabetic Nephropathy
Authors: Michael J. Kussman
Journal: JAMA (1976)

A retrospective record analysis of 112 juvenile-onset diabetics with nephropathy was conducted in order to determine their clinical course. The mean duration of diabetes at the onset of proteinuria was 17.3+/-6.0 years. Early renal failure appeared two years after the onset of protein-uria, and severe renal failure (mean serum creatinine level, 8.5+/-3.9 mg/100 ml) four years after the onset of proteinuria. The mean duration of life after the onset of severe renal failure was six months. The mortality was 53%, with 59% of the deaths attributable to renal failure and 36% to cardiovascular disease. All patients experienced progressive deterioration of renal function as well as the other complications of diabetes, the rate of progression being accelerated toward the end of the course. Juvenile onset diabetics should be considered for renal transplantation before the serum creatinine level reaches 8.5 mg/100 ml.
Transformation and progression of Waldenström's macroglobulinemia following cladribine therapy in two cases: natural evolution or iatrogenic causation?
Authors: Silvia Ling, Douglas E. Joshua, John Gibson, Graham Young, Harry Iland, Geoff Watson, P. Joy Ho
Journal: American Journal of Hematology (2006)

We report two cases of Waldenström's macroglobulinemia with an unusual aggressive transformation following treatment with cladribine (2-chlorodeoxyadenosine, 2-CdA), a purine analogue. The first patient developed transformation to a diffuse large-cell non-Hodgkin lymphoma, while the second developed extensive extramedullary involvement. Both patients displayed rapid progression following transformation and were refractory to chemotherapy. Both patients were pretreated with multiple courses of prednisone and chlorambucil, and transformation occurred shortly after therapy with cladribine. We propose that immune suppression from alkylating agents and purine analogues may have contributed to the unusual progression, resulting in a dismal outcome.
Prostate-specific deletion of the murine Pten tumor suppressor gene leads to metastatic prostate cancer
Authors: Shunyou Wang, Jing Gao, Qunying Lei, Nora Rozengurt, Colin Pritchard, Jing Jiao, George V. Thomas, Gang Li, Pradip Roy-Burman, Peter S. Nelson, Xin Liu, Hong Wu
Journal: Cancer Cell (2003)