tbuckley/cabot-search huggingface dataset:
Comprehensive Mutation Screening in 55 Probands with Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis
Authors: Carla G. Monico, Sandro Rossetti, Heidi A. Schwanz, Julie B. Olson, Patrick A. Lundquist, D. Brian Dawson, Peter C. Harris, Dawn S. Milliner
Journal: Journal of the American Society of Nephrology (2007)

Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of liver-specific alanine:glyoxylate aminotransferase (AGT), the metabolic error in type 1 primary hyperoxaluria (PH1). Genetic analysis of 55 unrelated probands with PH1 from the Mayo Clinic Hyperoxaluria Center, to date the largest with availability of complete sequencing across the entire AGXT coding region and documented hepatic AGT deficiency, suggests that a molecular diagnosis (identification of two disease alleles) is feasible in 96% of patients. Unique to this PH1 population was the higher frequency of G170R, the most common AGXT mutation, accounting for 37% of alleles, and detection of a new 3′ end deletion (Ex 11_3′UTR del). A described frameshift mutation (c.33_34insC) occurred with the next highest frequency (11%), followed by F152I and G156R (frequencies of 6.3 and 4.5%, respectively), both surpassing the frequency (2.7%) of I244T, the previously reported third most common pathogenic change. These sequencing data indicate that AGXT is even more variable than formerly believed, with 28 new variants (21 mutations and seven polymorphisms) detected, with highest frequencies on exons 1, 4, and 7. When limited to these three exons, molecular analysis sensitivity was 77%, compared with 98% for whole-gene sequencing. These are the first data in support of comprehensive AGXT analysis for the diagnosis of PH1, obviating a liver biopsy in most well-characterized patients. Also reported here is previously unavailable evidence for the pathogenic basis of all AGXT missense variants, including evolutionary conservation data in a multisequence alignment and use of a normal control population.
Treatment Experience With Pregnant Problem Drinkers
Authors: Henry L. Rosett, Lyn Weiner, Kenneth C. Edelin
Journal: JAMA (1983)

Therapy for heavy drinking was integrated with routine prenatal care at Boston City Hospital's women's clinic. Of 49 pregnant problem drinkers who participated in at least three counseling sessions, 33 (67%) reduced alcohol consumption before the third trimester. Therapeutic success was achieved with some of the heaviest drinkers. The desire to have a healthy baby was a powerful motivating force. Supportive counseling focused on reduction of alcohol consumption and potential benefits to the fetus. Guilt-provoking criticism was avoided. Referrals were made when women did not respond within two weeks. Planning of treatment strategies was facilitated by classification into social, symptom, and alcohol-dependence phases. Primary providers who are knowledgeable, interested, and accepting can successfully treat pregnant patients at risk from alcohol. Examinations of two cohorts of newborns have previously demonstrated benefits to offspring when heavy drinking ceased before the third trimester.
Abstract 4810: Utility of promoter hypermethylation for differentiating malignant and benign effusions in liquid-based cytology specimens
Authors: Ga-Eon Kim, Ji-Shin Lee, Jin-Sook Kim, Woo-Kyun Bae, Ji-Hee Lee, Jun-Eul Hwang, Jae-Hyuk Lee
Journal: Cancer Research (2011)

Abstract Background : The cytologic differentiation between benign and malignant effusions can be difficult. Because promoter hypermethylation of tumor suppressor genes is a frequent epigenetic event in many human cancers, it could serve as a marker for the diagnosis of cancer. The aim of this study was to investigate the feasibility of promoter hypermethylation as a diagnostic tool for the differentiation between malignant and benign effusions in liquid-based cytology samples. Methods : A multiplex, nested, methylation-specific polymerase chain reaction analysis was used to examine promoter methylation of 4 genes (RAR-β, APC, Twist and HIN-1) in malignant (n=85) and benign (n=31) liquid-based cytology samples. Results : The frequencies of hypermethylation of RAR-β, APC, Twist and HIN-1 were significantly higher in malignant effusions than in benign effusions (p&amp;lt;0.001 for each). In receiver-operating characteristic analysis, the area under the curve (AUC) for APC was the highest. The AUC for the best two-gene combination (APC/HIN-1) was not statistically different from the best individual tumor suppressor gene (APC). Conclusions : This study suggests that promoter methylation analysis on residual liquid-based effusion samples may be a feasible approach to detect malignant effusions, and that APC is the best marker for differentiating malignant and benign effusions. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 4810. doi:10.1158/1538-7445.AM2011-4810
A novel therapy for colitis utilizing PPAR-γ ligands to inhibit the epithelial inflammatory response
Authors: Chinyu G. Su, Xiaoming Wen, Shannon T. Bailey, Wen Jiang, Shamina M. Rangwala, Sue A. Keilbaugh, Anne Flanigan, Sreekant Murthy, Mitchell A. Lazar, Gary D. Wu
Journal: Journal of Clinical Investigation (1999)

Peroxisome proliferator-activated receptor γ (PPAR-γ), a member of the nuclear hormone receptor superfamily originally shown to play a critical role in adipocyte differentiation and glucose homeostasis, has recently been implicated as a regulator of cellular proliferation and inflammatory responses. Colonic epithelial cells, which express high levels of PPAR-γ protein, have the ability to produce inflammatory cytokines that may play a role in inflammatory bowel disease (IBD). We report here that PPAR-γ ligands dramatically attenuate cytokine gene expression in colon cancer cell lines by inhibiting the activation of nuclear factor-κB via an IκB-α–dependent mechanism. Moreover, thiazolidinedione ligands for PPAR-γ markedly reduce colonic inflammation in a mouse model of IBD. These results suggest that colonic PPAR-γ may be a therapeutic target in humans suffering from IBD.
Italian court upholds ban on pre-implantation diagnosis
Authors: Fabio Turone
Journal: BMJ (2006)

A decision by the Italian Constitutional Court last week has provoked debate in Italy about the restrictive law on assisted reproduction, which was approved in 2004. The law limits in vitro fertilisation procedures to sterile couples and bans pre-implantation diagnosis and embryo freezing except in exceptional circumstances. It also bans doctors from discarding any embryos produced by in vitro fertilisation ( BMJ 2004;328: 9, BMJ 2004;328: 1334, and BMJ 2005;330: 1405).

The court turned down an appeal from a couple who were having in vitro fertilisation and who were at high risk of having a child with …
Commentary: Failing to seek patients' consent to research is always wrong
Authors: R. Kale
Journal: BMJ (1997)

Doing research without the patient's consent is unethical in any part of the world because it violates the fundamental right of the patient to autonomy and self determination. Bhagwanjee et al violated that right because they feared that seeking consent of patients might jeopardise the scientific rigour of their study. They feared that patients at risk of HIV infection would be inclined to refuse the study, so limiting its value.

On what evidence did they base those fears? A separate study designed to find out the willingness of patients admitted to their unit to consent to HIV …
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Authors: Heiko Witt, Sebastian Beer, Jonas Rosendahl, Jian-Min Chen, Giriraj Ratan Chandak, Atsushi Masamune, Melinda Bence, Richárd Szmola, Grzegorz Oracz, Milan Macek, Eesh Bhatia, Sandra Steigenberger, Denise Lasher, Florence Bühler, Catherine Delaporte, Johanna Tebbing, Maren Ludwig, Claudia Pilsak, Karolin Saum, Peter Bugert, Emmanuelle Masson, Sumit Paliwal, Seema Bhaskar, Agnieszka Sobczynska-Tomaszewska, Daniel Bak, Ivan Balascak, Gourdas Choudhuri, D Nageshwar Reddy, G Venkat Rao, Varghese Thomas, Kiyoshi Kume, Eriko Nakano, Yoichi Kakuta, Tooru Shimosegawa, Lukasz Durko, András Szabó, Andrea Schnúr, Péter Hegyi, Zoltán Rakonczay, Roland Pfützer, Alexander Schneider, David Alexander Groneberg, Markus Braun, Hartmut Schmidt, Ulrike Witt, Helmut Friess, Hana Algül, Olfert Landt, Markus Schuelke, Renate Krüger, Bertram Wiedenmann, Frank Schmidt, Klaus-Peter Zimmer, Peter Kovacs, Michael Stumvoll, Matthias Blüher, Thomas Müller, Andreas Janecke, Niels Teich, Robert Grützmann, Hans-Ulrich Schulz, Joachim Mössner, Volker Keim, Matthias Löhr, Claude Férec, Miklós Sahin-Tóth
Journal: Nature Genetics (2013)
Private suffering made public
Authors: J Shield
Journal: BMJ (1994)

Paediatrics has recently attracted more than its fair share of attention from the broadcast media. The latest offering from Carlton TV is a fly on the wall documentary series based in Watford Hospital's special care baby unit.

Episode one follows David, a term infant born by elective caesarean section who developed what appeared to be persistent fetal circulation, was ventilated and given intensive medical support for a few days, and survived. The second episode traces the path of a mother from her premature rupture of membranes at 28 weeks, through delivery of a premature baby, Alan, again needing ventilation …
763-2 Attenuated Contractile Reserve in Chronic Severe Heart Failure: Evaluation by Automated Noninvasive Pressure-Volume Relations and Dobutamine Echocardiography
Authors: John Gorcsan, William E. Katz, Christine Mahler, William A. Mandarino, Robert L. Kormos, Srinivas Murali
Journal: Journal of the American College of Cardiology (1995)
Cardiac Evaluation in Normal Infants: The Clinical and Clinical Laboratory Differentiation Between Normal and Abnormal
Authors: Donald C. Fyler
Journal: JAMA (1966)

This monograph was conceived as a comprehensive correlation of information helpful in distinguishing normal infants from those with cardiovascular problems. The first seven chapters are devoted to fetal cardiovascular physiology, neonatal cardiovascular physiology, evaluation of heart murmurs, cyanosis, heart rate and rhythm, and the roentgenographic appearance of the infant heart. The remaining two chapters, one third of the book, are devoted to differential diagnosis of specific problems. There are 29 illustrations, mostly electrocardiographic tracings, and a good bibliography. Little new information is presented. As might be predicted by the topic, simple crystallization of the facts is difficult, and development of a systematic approach to the problem is not completely satisfying. The author is quite naturally reduced to philosophical exposition. The book is disappointing. No sense of added diagnostic information or development of a diagnostic approach emerges. The philosophy is compounded by a distracting prolixity. It seems doubtful that pediatricians will
Enhanced Replication of Herpes Simplex Virus by Hexamethylene Bisacetamide
Authors: Y. Yura, Y. Kondo, H. Iga, K. Harada, H. Tujimoto, T. Yanagawa, H. Yoshida, M. Sato
Journal: JNCI Journal of the National Cancer Institute (1991)

Hexamethylene bisacetamide(HMBA) is a potent inducer of differentiation of tumor cells. The effect of HMBA on cell growth and replication of herpes simplex virus(HSV) was investigated in HEp-2 epidermal cells, IMR-32 neuro-nal cells, K562 myeloid cells, Daudi Burkitt lymphoma cells, and CCRF-CEM T-lymphoid cells. The growth of HEp-2 and IMR-32 cells was not affected by HMBA at concentrations from 0.5 through 2 mM. The growth of K562, Daudi, and CCRF-CEM cells was inhibited by HMBA at concentrations from 1 through 5mM. When HSV-infected cells were incubated with 0.5 through 5mM HMBA, adose-dependent increase invirus yield was observedin HEp-2 and IMR-32 cells, but not in the other cell lines. These findings indicate that HMBA enhances the replication of HSV in epidermal and neuronal cells and that HMBA therapy may be responsible for the development of herpetic lesions. [J Natl Cancer Inst 83:186–189, 1991]
Experimental RNA Therapy Shows Promise Against Ebola Virus in Monkey Studies
Authors: Mike Mitka
Journal: JAMA (2010)

tionally, fragments of simian retrovirus DNA with an inactivating mutation were found in RotaTeq and also in the Vero cells (a cell line from the kidney cells from an African green monkey) from which the vaccines are derived. Delwart explained that the use of cells from other species in the production of vaccine can lead to leakage of cellular DNA and the introduction of noninfectious proviral DNA in vaccines. A possible culprit for introducing PCV1 into Rotarix may have been porcine pancreas-derived trypsin. He said that while the PCV1 contamination they found is undesirable, in some ways it is a best-case scenario because the virus has been well studied and appears to be noninfectious to humans. The discovery of unexpected viral DNA in the vaccine should not necessarily be cause for alarm, Delwart added. “We are constantly bombarded with viruses, particularly in the digestive tract [from meat, plants, and insects],” Delwart said. “We are finding them because the technology has changed.” In the future, use of these technologies early in the vaccine production process should allow them to be removed quickly, he added. Until the makers of the rotavirus vaccines are able to develop new versions of their vaccines, the FDA is requiring that the labels of Rotarix and RotaTeq be updated to disclose the presence of the PCV viruses. And Stapleton recommends that physicians inform parents that the viral DNA poses a theoretical risk, though extensive investigation has turned up no evidence of harm. Some parents may choose to decline the vaccine on this basis, he noted. “You have to be transparent and tell parents about the finding but [also inform them] that the vaccines are still recommended,” Stapleton said.
The relationship of white cell count, platelet count, and hematocrit to cigarette smoking in adolescents: the Oslo Youth Study.
Authors: G S Tell, R H Grimm, O D Vellar, L Theodorsen
Journal: Circulation (1985)

This article reports on the relationship between cigarette smoking, white blood cell count (WBC), platelet count (PC), and hematocrit in a Norwegian adolescent population. Data were obtained on 439 youths, 14 to 16 years old, as part of the Oslo Youth Study, an investigation of risk factors and behaviors for cardiovascular disease and cancer among adolescents. Analyses of covariance, controlling for height, weight, age, sexual maturation, high-density lipoprotein (HDL) cholesterol, and hematocrit revealed that both male and female regular smokers (those reporting smoking at least once a week) had significantly higher mean WBCs. Male regular smokers also had significantly higher PCs than nonsmokers, and female regular smokers had higher PCs than young women who smoked less often than once a month. Hematocrit, after adjustment for height, weight, age, sexual maturation, and HDL cholesterol, was significantly lower in male regular smokers, while female regular smokers had higher hematocrit values than nonsmokers or occasional smokers. Results of this study show that WBC and PC were increased in adolescents who started smoking relatively recently. This indicates that the increase in white cell count observed in smokers is unlikely to be due to a longstanding smoking-induced chronic disease condition.
HIV versus the immune system: another apparent victory for the virus
Authors: Norman L. Letvin, Bruce D. Walker
Journal: Journal of Clinical Investigation (2001)

The only realistic hope for curbing the expanding HIV pandemic is the development of an effective vaccine. Understanding the immune responses that might protect from infection is of utmost relevance to this effort. With the most recent global figures showing that over 36 million people are now living with HIV, and expectations for rapidly expanding epidemics in Asia and the former Soviet Union, the need to understand immune protection in HIV infection is paramount.
Insulin resistance and impaired myocardial fatty acid metabolism in dialysis patients with normal coronary arteries
Authors: M. Nishimura, M. Murase, T. Hashimoto, H. Kobayashi, S. Yamazaki, R. Imai, K. Okino, H. Fujita, N. Inoue, H. Takahashi, T. Ono
Journal: Kidney International (2006)
Cardiovascular Imaging in Clinical Practice
Authors: Deepak K. Gupta, Raymond Y. Kwong, Marc A. Pfeffer
Journal: JAMA (2013)

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
1063 FACTORS ASSOCIATED WITH SPONTANEOUS CLEARANCE DURING ACUTE HEPATITIS C VIRUS INFECTION
Authors: J. Grebely, G.J. Dore, M. Schim van der Loeff, A.L. Cox, J. Bruneau, A.Y. Kim, A.R. Lloyd, M. Hellard, K. Page, M. Prins
Journal: Journal of Hepatology (2010)
Renal Allograft Rejection Unusual Scintigraphic Findings
Authors: ANIL G. DESAI, CHAN H. PARK
Journal: Clinical Nuclear Medicine (1986)

During sequential renal imaging for evaluation of clinically suspected rejection, focal areas of functioning renal tissue were seen in two cases of renal transplant in the midst of severe and irreversible renal allograft rejection. A probable explanation for this histopathologically confirmed and previously unreported finding is discussed.
The cardiac sodium–calcium exchanger NCX1 is a key player in the initiation and maintenance of a stable heart rhythm
Authors: Stefan Herrmann, Peter Lipp, Kathrina Wiesen, Juliane Stieber, Huong Nguyen, Elisabeth Kaiser, Andreas Ludwig
Journal: Cardiovascular Research (2013)

AimsThe complex molecular mechanisms underlying spontaneous cardiac pacemaking are not fully understood. Recent findings point to a co-ordinated interplay between intracellular Ca2+ cycling and plasma membrane-localized cation transport determining the origin and periodicity of pacemaker potentials. The sodium–calcium exchanger (NCX1) is a key sarcolemmal protein for the maintenance of calcium homeostasis in the heart. Here, we investigated the contribution of NCX1 to cardiac pacemaking.
Comprehensive Analysis of Perfusion Scintigraphy in Takayasu??s Arteritis
Authors: ISAO UMEHARA, HITOSHI SHIBUYA, TSUNEAKI NAKAGAWA, FUJIO NUMANO
Journal: Clinical Nuclear Medicine (1991)

One hundred eighty perfusion lung scans of 120 patients with Takayasu's arteritis were retrospectively evaluated. Lung scans were abnormal in 76% of the patients. Lung scans could be classified into four groups, according to the pattern of perfusion defects. Early involvement occurred in the upper lobes, and the middle and lower lobes were involved at a later stage. The data obtained by physiological examination (spirography and arterial blood gas analysis) showed a weak relationship with the severity of perfusion lung scan findings. In addition, repeated lung scans were found to be easy and reliable in the follow-up period of pulmonary artery involvement.
ABC of the upper gastrointestinal tract: Indigestion: When is it functional?
Authors: N. J Talley, N. Phung, J. S Kalantar
Journal: BMJ (2001)

Patients often complain of indigestion, but what do they mean? Indigestion is an old English word that means lack of adequate digestion, but patients and doctors interpret this in different ways. Many patients mean heartburn or acid regurgitation, the classic symptoms of gastro-oesophageal reflux disease. Some describe belching, abdominal rumblings, or even bad breath as indigestion. Others mean pain localised to the epigastrium or a non-painful discomfort in the upper abdomen which may be described as fullness, bloating, or an inability to finish a normal meal (early satiety). Dyspepsia is best restricted to mean pain or discomfort centred in the upper abdomen. #### Major structural causes of dyspepsia Overlap of subgroups of dyspepsia based on symptoms in patients with documented functional dyspepsia There are many causes of dyspepsia, but at least two thirds of patients have no structural or biochemical explanation for their symptoms. It has been suggested that dyspepsia can be subdivided based on groups (or clusters) of symptoms. However, subgroups have not proved to be of value in identifying the underlying cause of dyspepsia and overlap considerably. Some patients report having troublesome burping associated with abdominal bloating or discomfort that is transiently relieved by bringing up the wind. These patients have aerophagy, and repeated swallowing of air may be obvious during the consultation. History taking is key to identifying the likely cause of dyspepsia. ### Gastro-oesophageal reflux disease It is important and practical to distinguish gastro-oesophageal reflux disease (GORD) from dyspepsia. Frequent heartburn is a cardinal symptom of GORD; acid reflux causes a retrosternal or epigastric burning feeling that characteristically radiates up towards the throat, is relieved transiently by antacids, and is precipitated by a meal or by lying down. #### Uncommon causes of upper abdominal pain or discomfort that may be confused with dyspepsia
THE ASSOCIATION OF SURGICAL LESIONS IN THE UPPER ABDOMEN.ORATION ON SURGERY AT THE FIFTY-FIFTH ANNUAL SESSION OF THE AMERICAN MEDICAL ASSOCIATION, AT ATLANTIC CITY, JUNE 7 TO 10, 1904.
Authors: WILLIAM J. MAYO
Journal: JAMA (1904)

The history of medical advance from the empirical treatment of symptoms to scientific expectancy, has been based on the study of death and modern research work. The spirit has been fine, although somewhat pessimistic. The great advances have been along the line of preventive medicine and in the elucidation of problems connected with the etiology of disease. Surgical progress has been, to a certain extent, through similar channels; the spirit, however, has been one of magnificent optimism. The great advances in surgery have come from the clinical side, modern technic having enabled examination of primary conditions during life. As a groundwork for the study of medicine the pathologic laboratory and autopsy room offer unrivaled advantage, but they teach end results only. Who of us has not admired the precision with which a trained observer makes a diagnosis? A few days later one visits the