tbuckley/cabot-search huggingface dataset:
Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to <i>HNF1A</i> Mutations
Authors: Katharine R. Owen, Gaya Thanabalasingham, Timothy J. James, Fredrik Karpe, Andrew J. Farmer, Mark I. McCarthy, Anna L. Gloyn
Journal: Diabetes Care (2010)

Despite the clinical importance of an accurate diagnosis in individuals with monogenic forms of diabetes, restricted access to genetic testing leaves many patients with undiagnosed diabetes. Recently, common variation near the HNF1 homeobox A (HNF1A) gene was shown to influence C-reactive protein levels in healthy adults. We hypothesized that serum levels of high-sensitivity C-reactive protein (hs-CRP) could represent a clinically useful biomarker for the identification of HNF1A mutations causing maturity-onset diabetes of the young (MODY).Serum hs-CRP was measured in subjects with HNF1A-MODY (n = 31), autoimmune diabetes (n = 316), type 2 diabetes (n = 240), and glucokinase (GCK) MODY (n = 24) and in nondiabetic individuals (n = 198). The discriminative accuracy of hs-CRP was evaluated through receiver operating characteristic (ROC) curve analysis, and performance was compared with standard diagnostic criteria. Our primary analyses excluded approximately 11% of subjects in whom the single available hs-CRP measurement was >10 mg/l.Geometric mean (SD range) hs-CRP levels were significantly lower (P <or= 0.009) for HNF1A-MODY individuals, 0.20 (0.03-1.14) mg/l, than for any other group: autoimmune diabetes 0.58 (0.10-2.75) mg/l, type 2 diabetes 1.33 (0.28-6.14) mg/l, GCK-MODY 1.01 (0.19-5.33) mg/l, and nondiabetic 0.48 (0.10-2.42) mg/l. The ROC-derived C-statistic for discriminating HNF1A-MODY and type 2 diabetes was 0.8. Measurement of hs-CRP, either alone or in combination with current diagnostic criteria, was superior to current diagnostic criteria alone. Sensitivity and specificity for the combined criteria approached 80%.Serum hs-CRP levels are markedly lower in HNF1A-MODY than in other forms of diabetes. hs-CRP has potential as a widely available, cost-effective screening test to support more precise targeting of MODY diagnostic testing.
RISKS OF CARDIAC CATHETERIZATION AND RESULTS OF REVASCULARIZATION IN PATIENTS WITH ENDSTAGE LIVER DISEASE
Authors: Suchit Bhutani, Jonathan Tobis, Henry Honda, William Suh, Babak Azarbal, Rubine Gevorgyan, Arjun Sinha, Randolph Steadman, Chirstopher Wray
Journal: Journal of the American College of Cardiology (2013)
THE PROBLEM OF EXERCISE FOR CHILDREN WITH HEART DISEASE
Authors: WILLIAM ST. LAWRENCE
Journal: JAMA (1927)

From the standpoint of management, few phases of cardiac disease in children cause such concern as the attitude to be adopted toward exercise. Although this subject has received much attention in relation to adults, little has been presented concerning children, and the great differences that exist between this disease in the adult and in the child make a separate and distinct consideration of the latter necessary. Among physicians generally opinions differ greatly, and in hospitals and clinics the policies in operation vary widely. Undoubtedly this is due to the lack of a uniform conception of the disease and to the absence of an exact or wholly acceptable measure of circulatory strain. It may also be due in part to the difficulty of presenting objective evidence and the lack of ease with which the subject lends itself to graphic demonstration. Nevertheless there exist large numbers of children with disease of the
Degradation of BRCA2 in Alkyltransferase-Mediated DNA Repair and Its Clinical Implications
Authors: Subha Philip, Srividya Swaminathan, Sergey G. Kuznetsov, Sreenivas Kanugula, Kajal Biswas, Suhwan Chang, Natalia A. Loktionova, Diana C. Haines, Philipp Kaldis, Anthony E. Pegg, Shyam K. Sharan
Journal: Cancer Research (2008)

Abstract Germ-line mutations in BRCA2 have been linked to early-onset familial breast cancer. BRCA2 is known to play a key role in repairing double-strand breaks. Here, we describe the involvement of BRCA2 in O6-alkylguanine DNA alkyltransferase (AGT)–mediated repair of O6-methylguanine adducts. We show that BRCA2 physically associates and undergoes repair-mediated degradation with AGT. In contrast, BRCA2 with a 29-amino-acid deletion in an evolutionarily conserved domain does not bind to alkylated AGT; the two proteins are not degraded; and mouse embryonic fibroblasts are specifically sensitive to alkylating agents that result in O6-methylguanine adducts. We show that O6-benzylguanine (O6BG), a nontoxic inhibitor of AGT, can also induce BRCA2 degradation. BRCA2 is a viable target for cancer therapy because BRCA2-deficient cells are hypersensitive to chemotherapeutic DNA-damaging agents. We show a marked effect of O6BG pretreatment on cell sensitivity to cisplatin. We also show the efficacy of this approach on a wide range of human tumor cell lines, which suggests that chemosensitization of tumors by targeted degradation of BRCA2 may be an important consideration when devising cancer therapeutics. [Cancer Res 2008;68(23):9973–81]
The True Overall Mortality of Unselected Nephropathic Type 2 Diabetic Patients With Mild to Moderate Renal Insufficiency
Authors: Georg Biesenbach, Otmar Janko
Journal: Diabetes Care (2003)

Results from a population-based survey Our objective was to evaluate the diagnostic proficiency of the World Health Organization (WHO) and the National Cholesterol Education Program (NCEP)-III definitions (1,2) for the metabolic syndrome in a Mexican nationwide, population-based survey.Details of the sampling procedures have been previously described (3).The population was composed of 2,158 men and women aged 20 -69 years sampled after a 9-to 12-h fasting period.For the WHO criteria, insulin resistance was diagnosed if a nondiabetic case had fasting insulin concentrations Ն126 pmol/l (21 U/ml) (Ͼ75th percentile in Mexican adults).The ageadjusted prevalence was 13.61% for the WHO criteria (n ϭ 268) and 26.6% for the NCEP-III definition (n ϭ 574).After excluding patients with diabetes, the prevalence was 9.2 and 21.4%, respectively.The agreement between the definitions was assessed in 1,969 subjects; 189 cases were eliminated due to the lack of a urine sample.The number of abnormal cases was lower using the WHO criteria.Only 237 of the 545 subjects (43.4%) who fulfilled the NCEP criteria were diagnosed as affected using the WHO definition.Just 16 of 253 cases (6.3%) detected by the WHO definition did not fulfill the NCEP definition.The agreement between the criteria was moderate ( ϭ 0.507).On the other hand, the subjects diagnosed using the WHO recommendations had a worse profile than the cases detected by the NCEP-III definition only-they had a higher BMI and higher non-HDL cholesterol, triglyceride, and glucose concentrations.The demonstration of insulin resistance among the nondiabetic population caused the lack of agreement in 202 of the 242 cases that fulfilled the NCEP definition but failed the WHO criteria.Other reasons for disparity were the higher thresholds used by the WHO criteria; these differences explained the lack of agreement in 66 of the 152 cases with diabetes.In conclusion, the prevalence of the metabolic syndrome is influenced by the selection of the diagnostic criteria.The WHO criteria identified a lower number of cases than the NCEP-III definition.These differences were explained mainly by the inclusion of abnormally high insulin concentrations as a diagnostic criterion.However, the presence of insulin resistance may help to identify patients more severely affected (4).
US employers must provide free contraceptive coverage for women
Authors: M. McCarthy
Journal: BMJ (2013)

The US Department of Health and Human Services has issued a final rule on contraceptive coverage, which will require most employers to provide women, including many who work for employers who oppose contraception on religious grounds, with access to health insurance that provides such coverage for free. 

Under the 2010 Affordable Care Act, health plans must cover a wide variety of preventive services for free, including contraceptive care, a requirement that has met with fierce opposition from religious groups and some private employers, who oppose contraception.

A coalition of such employers has filed suit, claiming that the requirement violates their constitutional right …
Proinsulin Is an Independent Predictor of Coronary Heart Disease
Authors: Björn Zethelius, Liisa Byberg, C. Nicholas Hales, Hans Lithell, Christian Berne
Journal: Circulation (2002)

Background — Some, but not all, studies have reported a relationship between plasma insulin and coronary heart disease (CHD). Conventional nonspecific insulin assays are also measuring various fractions of proinsulin-like molecules due to cross-reactivity. The long-term relationship between proinsulin-like molecules and CHD is largely unknown. For this reason, the longitudinal relationships between intact proinsulin, split proinsulin, specific insulin, immunoreactive insulin, and CHD, were studied in a population-based cohort of 50-year-old men (n=874), with a follow-up of 27 years. Methods and Results — Fasting proinsulin-like molecule and specific-insulin concentrations were measured in plasma (stored frozen since baseline 1970 to 1973) by specific 2-site immunometric assays. Immunoreactive insulin concentrations were determined at baseline. The associations between proinsulin-like molecules, specific insulin, immunoreactive insulin, and CHD mortality (International Classification of Diseases [9th revision] codes 410 to 414) were analyzed using Cox’s proportional hazards regression and presented as hazard ratios (HRs) with their 95% confidence intervals (CIs) for a 1-SD increase in a predictor variable. In the univariate analysis, intact proinsulin (HR, 1.69; 95% CI, 1.41 to 2.01) was the strongest predictor of death from CHD. In the multivariate analysis, smoking (HR, 1.57; 95% CI, 1.03 to 2.38), intact proinsulin (HR, 1.47; 95% CI, 1.18 to 1.82), systolic blood pressure (HR, 1.38; 95% CI, 1.14 to 1.66), and LDL/HDL cholesterol ratio (HR, 1.31; 95% CI, 1.12 to 1.53) were independent predictors of CHD mortality (adjusted for body mass index, triglycerides, and fasting glucose), whereas specific insulin and immunoreactive insulin were not (HR, 1.12; 95% CI, 0.90 to 1.40). The increased risk was restricted to the upper third of the proinsulin distribution. Conclusion — Increased proinsulin concentrations predict death and morbidity caused by CHD over a period of 27 years, independent of other major cardiovascular risk factors.
Gaucher Cells in Leukemia
Authors: Fred Rosner
Journal: JAMA (1969)

Four patients with chronic granulocytic leukemia (CGL) also have Gaucher cells present in their bone marrow aspirates. In one, a child with acute lymphoblastic leukemia, the association of leukemia and Gaucher cells seems coincidental since there was a family history of Gaucher's disease. In two patients with typical CGL and one with subacute granulocytic leukemia, a biochemical abnormality is postulated. Increased granulocyte turnover in CGL appears responsible for marked overproduction of glucocerebroside which is stored in the reticuloendothelial system.
Ultrasound Markers of Fetal Down Syndrome
Authors: James F. X. Egan
Journal: JAMA (2001)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
The Role of Cloud Computing in Managing the Deluge of Potentially Private Genetic Data
Authors: Dov Greenbaum, Mark Gerstein
Journal: The American Journal of Bioethics (2011)

Click to increase image sizeClick to decrease image size Acknowledgments Dov Greenbaum's opinions expressed herein are his own and do not necessarily represent, nor should they be imputed to represent, the opinion of his law firm, any of its employees, or its clients.
Antenatal Detection of Sickle-Cell Anemia
Authors: Haig H. Kazazian
Journal: New England Journal of Medicine (1972)

Elsewhere in this issue, Kan and his colleagues demonstrate that the β chain of hemoglobin S is synthesized in reticulocytes of a human fetus aborted at the 15th week of gestation. Moreover, they show that a blood sample obtained from the placenta in the eighth month of pregnancy contains adequate numbers of fetal reticulocytes. They suggest that if placental aspiration earlier in gestation is shown to be a safe method to obtain fetal red cells, the antenatal detection of sickle-cell anemia could be accomplished by means of these technics.Earlier, the data of Walker and Turnbull1 and Huehns et al. . . .
A Method for Identification of Selenoprotein Genes in Archaeal Genomes
Authors: Mingfeng Li, Yanzhao Huang, Yi Xiao
Journal: Genomics Proteomics & Bioinformatics (2009)

Abstract The genetic codon UGA has a dual function: serving as a terminator and encoding selenocysteine. However, most popular gene annotation programs only take it as a stop signal, resulting in misannotation or completely missing selenoprotein genes. We developed a computational method named Asec-Prediction that is specific for the prediction of archaeal selenoprotein genes. To evaluate its effectiveness, we first applied it to 14 archaeal genomes with previously known selenoprotein genes, and Asec-Prediction identified all reported selenoprotein genes without redundant results. When we applied it to 12 archaeal genomes that had not been researched for selenoprotein genes, Asec-Prediction detected a novel selenoprotein gene in Methanosarcina acetivorans. Further evidence was also collected to support that the predicted gene should be a real selenoprotein gene. The result shows that Asec-Prediction is effective for the prediction of archaeal selenoprotein genes.
Book: The Timechart History of Medicine
Authors: A. Paton
Journal: BMJ (2000)

Ed Gill Davies Worth Press, £17.99, pp 72 ISBN 1 903035 01 X Rating: ![Graphic][1]</img> ![Graphic][2]</img> Margaret Thatcher's biographer, John Campbell, warned recently that “concentration on individuals can only aggravate the biographical bias which already distorts historiography.” Yet our own history of medicine seems to be irretrievably bound up with the names and deeds of “the great and the good,” like the kings and queens in the schools of my youth, and we … [1]: /embed/inline-graphic-1.gif [2]: /embed/inline-graphic-2.gif
Endoscopic Sphincteroclasy: A Useful Therapeutic Tool for Biliary Endoscopy in Billroth II Gastrectomy Patients
Authors: F. Prat, J. Fritsch, A. D. Choury, B. Meduri, G. Pelletier, C. Buffet
Journal: Endoscopy (1997)

Endoscopic exploration of the common bile duct is generally more difficult and hazardous in patients with a Billroth II gastrectomy than in patients with normal anatomy. Hydrostatic dilation of the papilla, which we term "endoscopic sphincteroclasy", provides a useful alternative to sphincterotomy in such patients.Endoscopic sphincteroclasy was carried out in five patients with a Billroth II anastomosis. There were four men and one woman, aged 58 to 90 years. One patients was cirrhotic, with impaired coagulation. Four presented with typical cholangitis, and one had pain and jaundice. The common bile duct was dilated in all five patients. Four had choledocholithiasis and one had a cholangiocarcinoma.Sphincteroclasy was carried out with balloon dilators mounted on 0.035-inch guide wires. Immediate extraction of stones was achieved in three of the four patients with choledocholithiasis. In one case, a control endoscopic retrograde cholangiopancreatography was necessary to remove residual stones, without additional dilation. Insertion of the endoprosthesis was possible without difficulty in the patient with a malignant stricture. None of the patients required a sphincterotomy. No complications were observed up to six months after the sphincteroclasy.We recommend the use of endoscopic sphincteroclasy in patients with a Billroth II gastrectomy who require endoscopic therapy, as well as in patients in need of emergency bile duct decompression who have impaired coagulation.
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Authors: T Kikuchi, H W Yang, M Pennybacker, N Ichihara, M Mizutani, J L Van Hove, Y T Chen
Journal: Journal of Clinical Investigation (1998)

Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA), a glycogen degrading lysosomal enzyme. GAA-deficient (AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right themselves from the supine position (flip test). Six 4-wk-old acid maltase-deficient quails, with the clinical symptoms listed, were intravenously injected with 14 or 4.2 mg/kg of precursor form of recombinant human GAA or buffer alone every 2-3 d for 18 d (seven injections). On day 18, both high dose-treated birds (14 mg/kg) scored positive flip tests and flapped their wings, and one bird flew up more than 100 cm. GAA activity increased in most of the tissues examined. In heart and liver, glycogen levels dropped to normal and histopathology was normal. In pectoralis muscle, morphology was essentially normal, except for increased glycogen granules. In sharp contrast, sham-treated quail muscle had markedly increased glycogen granules, multi-vesicular autophagosomes, and inter- and intrafascicular fatty infiltrations. Low dose-treated birds (4.2 mg/kg) improved less biochemically and histopathologically than high dose birds, indicating a dose-dependent response. Additional experiment with intermediate doses and extended treatment (four birds, 5.7-9 mg/kg for 45 d) halted the progression of the disease. Our data is the first to show that an exogenous protein can target to muscle and produce muscle improvement. These data also suggest enzyme replacement with recombinant human GAA is a promising therapy for human Pompe disease.
Nonsurgical Treatment of Esophageal Perforations After Endoscopic Palliation in Advanced Esophageal Cancer
Authors: T. Bisgaard, M. Wøjdemann, H. Heindorff, L. B. Svendsen
Journal: Endoscopy (1997)

Iatrogenic esophageal perforation during palliative endoscopic treatment in patients with incurable esophageal or cardiac cancer is a severe complication, associated with a high rate of mortality. The treatment remains controversial, since both nonsurgical and surgical treatment regimens are used. The present study describes a nonsurgical regimen.Nine cases of perforation occurred in 142 consecutive patients referred for endoscopic palliation of dysphagia, corresponding to a perforation rate of 6%. Laser therapy was the main treatment used (argon plasma coagulation or Nd:YAG photocoagulation).Nonsurgical treatment was successful in six patients (75%). Two patients died (22%) as a direct result of esophageal perforation following endoscopic palliation procedures.These findings show an acceptable mortality rate using a nonsurgical treatment regimen involving broad-spectrum antibiotics, nasogastric suction, and parenteral nutrition, with pleural drainage and endoprosthesis placement in addition when indicated.
Market penetration of new drugs. ACE inhibitors prescribed for heart failure.
Authors: R C Davis
Journal: BMJ (1993)

Coupled with the editorial by Tony Noble arguing against the routine postnatal examination at six weeks,5 this concern about initiating contra- ception before the earliest likely ovulation suggests that the optimum time for a routine postnatal appointment is at or just before four weeks.This should be seen as a safety net for contraception, since the subject is much better raised during the third trimester, at around 30 weeks' gestation, and discussed again with the woman during the post- partum home visit at around 10 days.I have suggested to both the Royal College of Obstetri- cians and Gynaecologists and the Royal College of General Practitioners that these recommendations should be discussed with a view to becoming the colleges' official policy.
Radionuclide Cisternography in Detecting Cerebrospinal Fluid Leak in Spontaneous Intracranial Hypotension
Authors: Damita L. Thomas, Yusuf Menda, Michael M. Graham
Journal: Clinical Nuclear Medicine (2009)

Spontaneous intracranial hypotension (SIH) is an infrequent clinical entity characterized by cerebrospinal fluid (CSF) hypovolemia due to a CSF leak. The cause of the leak in SIH, however, is largely unknown, though structural meningeal weakness and mechanical stress factors have been postulated. Patients with SIH typically present with postural headaches, and occasionally with other symptomology as well, such as nausea, emesis, neck stiffness, and photophobia. In this case series, we present 4 patients who underwent radionuclide cisternography (RNC) for suspected CSF leak. All patients underwent RNC and MR and/or CT for evaluation. We found that RNC accurately detected and localized a CSF abnormality in all 4 patients, with each patient experiencing symptomatic relief following directed epidural blood patch.
Haemorrhage from Peritonsillar Abscess
Authors: C. MacAuley
Journal: BMJ (1934)

Seyval blanc wines aged with American oak chips from air- and kiln-dried wood staves were compared for nonflavonoid phenols and sensory characteristics. The wood staves were obtained from eight American white oak trees and were air- and kiln-dried. Although there was no significant treatment effect, the nonflavonoid phenols tended to be higher for wines aged with kiln-dried chips. The results of the sensory tests indicated that those wines with large differences in phenolic levels were detected by the taste panelists.
One Medical Aspect of the Prize Fight
Authors: J. N. Hall
Journal: JAMA (1910)

To the Editor:  The medical man may read much between the lines as to the reason for the defeat of a former champion in a recent famous prize-fight. There was much more at the bottom of this inglorious disaster than mere inability to get back into training.  The stress laid on the reports, at the time of the early arrangements for the fight, that the former champion had been examined by noted medical men to see if  could expect to get into good training again, together with the current rumors as to the habits of dissipation common to this class of athletes, would give ground for the suspicion that there may have been a definite and specific reason for such a careful preliminary examination. One noted ring follower states that no man with a normal brain could have been so utterly helpless before an opponent; another that he was
A quantitative assessment of regional changes in lumen diameter after photodynamic therapy with motexafin lutetium in patients undergoing stent implantation
Authors: Jeffrey J. Pooma, Nicholas Cox, Dennis Wahr, Howard Herrmann, Daniel I. Simon, Campbell D. Rogers, Paul Kramer, Wendy Shear, Kendrick Shunk, Alan Yeung, Ross Prpic, Daniel Adelman, Dean Kereiakes
Journal: Journal of the American College of Cardiology (2002)