tbuckley/cabot-search huggingface dataset:
Delta Hepatitis Outbreak in a Group of Patients with Leukemia
Authors: LEE RATNER
Journal: Annals of Internal Medicine (1986)

Letters and Corrections1 December 1986Delta Hepatitis Outbreak in a Group of Patients with LeukemiaLEE RATNER, M.D., Ph.D.LEE RATNER, M.D., Ph.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-105-6-972_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: In the July issue, De Cock and colleagues (1) described the courses of patients who had acquired delta hepatitis infection primarily through intravenous drug abuse or homosexual activity. I write to report an unusual outbreak of coinfection by both hepatitis B virus and hepatitis delta virus among a group of children with acute lymphoblastic leukemia.Ninety children with newly diagnosed acute lymphoblastic leukemia who were referred for care to the National Cancer Institute between March 1971 and May 1980 were studied. A 20% prevalence of hepatitis B virus infection has been reported previously in this group of...References1. DE COCKGOVINDARAJANCHINREDEKER KSKA. Delta hepatitis in the Los Angeles area: a report of 126 cases. Ann Intern Med. 1986;105:108-14. LinkGoogle Scholar2. RATNERPEYLAN-RAMUWESLEYPOPLACK LNRD. Adverse prognostic influence of hepatitis B virus infection in acute lymphoblastic leukemia. Cancer. 1986;58:1096-100. CrossrefMedlineGoogle Scholar3. HADLERDE MONZONPONSETTO SMA. An epidemic of severe hepatitis due to delta virus infection in Yucpa Indians of Venezuela. Ann Intern Med. 1984;100:339-49. LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Washington University St. Louis, MO 63110 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byActive Immunization of Children with Leukemia and Other MalignanciesLeukemia and Liver Disease in Childhood: Clinical and Histological EvaluationHepatocellular carcinoma following chronic delta virus hepatitis in a patient cured of leukemiaDelta Virus and Childhood LeukemiaHepatitis delta virus as a global health problem 1 December 1986Volume 105, Issue 6Page: 972-972KeywordsChildrenDrug abuseHepatitis AHepatitis BHepatitis B virusHepatitis DHepatitis D virusHomosexualsPrecursor cells Issue Published: 1 December 1986 PDF downloadLoading ...
Efficacy of Meningococcal Vaccine and Barriers to Vaccination
Authors: Nancy Rosenstein
Journal: JAMA (1998)

Use of the quadrivalent meningococcal vaccine for control of outbreaks has increased in recent years, but the efficacy of meningococcal vaccine during mass vaccination campaigns in US civilian populations has not been assessed.To evaluate the efficacy of the quadrivalent meningococcal vaccine against serogroup C meningococcal disease in a community outbreak setting and to evaluate potentially modifiable barriers to vaccination in an area with persistent meningococcal disease following immunization.Matched case-control study of vaccine efficacy using cases of serogroup C meningococcal disease in persons eligible for vaccination during mass vaccination campaigns. Control patients were matched by neighborhood and age. The control group was used to identify possible barriers to vaccination.Gregg County, Texas, population 106076, from 1993 to 1995.A total of 17 case patients with serogroup C meningococcal disease eligible for vaccine and 84 control patients.Vaccine efficacy and risk factors associated with nonvaccination.Vaccine efficacy among 2- to 29-year-olds was 85% (95% confidence interval, 27%-97%) and did not change in bivariate analyses with other risk factors that were significant in univariate analysis. Among control patients, older age was strongly associated with nonvaccination; vaccination rates for 2- to 4-year-olds, 5- to 18-year-olds, and 19- to 29-year-olds were 67%, 48%, and 20%, respectively (chi2 for linear trend, P=.01).The meningococcal polysaccharide vaccine was effective against serogroup C meningococcal disease in this community outbreak. Although specific barriers to vaccination were not identified, older age was a risk factor for nonvaccination in the target population of 2- to 29-year-olds. In future outbreaks, emphasis should be placed on achieving high vaccination coverage, with special efforts to vaccinate young adults.
Promoter Hypermethylation of the <i>PALB2</i> Susceptibility Gene in Inherited and Sporadic Breast and Ovarian Cancer
Authors: Anna Potapova, Amanda M. Hoffman, Andrew K. Godwin, Tahseen Al-Saleem, Paul Cairns
Journal: Cancer Research (2008)

Abstract The partner and localizer of BRCA2 (PALB2) gene was recently identified as a BRCA2-interacting protein and subsequently shown to be a Fanconi anemia gene (FANCN). Disease-associated point mutations resulting in protein truncation have been found in BRCA1/2 mutation–negative breast cancer families identifying PALB2 as a susceptibility gene for breast cancer. Aberrant promoter hypermethylation is a mechanism of inactivation of many tumor suppressor genes, including BRCA1 and p16INK4a, in breast and ovarian cancer. We therefore investigated the methylation status of a 1512 bp typical CpG island located in the promoter and exon 1 region of the PALB2 gene in 130 sporadic and familial breast and ovarian primary tumors, 9 cell lines, and 10 normal cell specimens. We found two primary breast tumors from BRCA2 mutation carriers, four sporadic primary breast tumors, and four sporadic primary ovarian tumors showed hypermethylation of the core promoter region of PALB2. All 10 normal tissue DNA had an unmethylated PALB2 promoter region. Quantitative real-time reverse transcription-PCR showed PALB2 expression to be reduced 28-fold in primary breast tumor with PALB2 promoter hypermethylation compared with matched normal breast tissue RNA. Aberrant promoter hypermethylation of PALB2 is more frequent than the reported level of PALB2 point mutations in breast tumors from BRCA1/2-negative families and is similar to the frequency of BRCA1 hypermethylation in inherited and sporadic breast and ovarian cancers. [Cancer Res 2008;68(4):998–1002]
Orthopaedics and its Name
Authors: D. D. C. Howat
Journal: BMJ (1953)

<h3>Abstract</h3> Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature, and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. We present the implementation of the Mutalyzer 2 tool suite, designed to automatically apply the HGVS guidelines so users do not have to deal with the HGVS intricacies explicitly to check and correct their variant descriptions. Mutalyzer is profusely used by the community, having processed over 133 million descriptions since its launch. Over a five year period, Mutalyzer reported a correct input in approximately 50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for approximately 7% of cases, Mutalyzer was able to automatically correct the description.
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention
Authors: Pramod K. Mistry, Sara Sadan, Ruhua Yang, John Yee, Mei Yang
Journal: American Journal of Hematology (2007)

Abstract Gaucher disease (GD) is a progressive macrophage lipidosis capable of causing disabling and life‐threatening complications. Anecdotal experiences suggest that GD may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy (ERT) with imiglucerase. We conducted surveys of patients and Hematology–Oncology specialists to assess the frequency of diagnostic delays. Additionally, we report a series of patients who suffered diagnostic delays and as a result developed disabilities including potentially life‐threatening manifestations of GD. Of 136 patients surveyed, the average time from first appearance of GD symptoms to final diagnosis was 48.7 ± 123.6 months. More than two‐thirds were evaluated and managed by a Hematologist–Oncologist (Hem–Onc). A global survey of 406 Hem–Oncs found that only 20% considered GD in the differential diagnosis for all of its classic symptoms (cytopenia, hepatosplenomegaly, bone pain); the diagnosis considered most likely included leukemia, lymphoma, and multiple myeloma. To illustrate actual consequences of diagnostic delays, we describe 14 patients with GD who suffered from symptoms for up to 10 years before correct diagnosis. Diagnostic delays led to complications that are preventable or reversible with ERT (i.e., avascular necrosis, severe bleeding, chronic bone pain, life‐threatening sepsis, pathologic fractures, growth failure, liver pathology). Patients homozygous for N370S mutation in this series were vulnerable to diagnostic delays. In conclusion, prolonged diagnostic delays occur in GD and may result in severe disease manifestations. Our findings suggest that physician education will increase the likelihood of prompt detection of GD and improve its management with ERT with imiglucerase when indicated. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.
Staged surgical management of tetralogy of Fallot in infants.
Authors: L W Stephenson, S Friedman, L H Edmunds
Journal: Circulation (1978)

A cohort of 61 consecutive patients 24 months of age of younger had palliative shunts for symptoms of tetralogy of Fallot during a 12-year period. Thirty-six of these patients have been followed through definitive intracardiac repair or to death. For analysis palliative operations were separated into two six-year periods, 1965--1970. During the first period seven of 30 infants operated on died; all 31 infants operated on during the second period survived. The Waterston anastomosis was performed most frequently (67%) during the first period; the Blalock-Taussig anastomosis was performed in 68% of infants during the second period. Of 54 hospital survivors, three died before definitive intracardiac repair. Two of the three interim deaths were related to heart disease. Twenty-six of the remaining 51 patients have had definitive intracardiac repair with two deaths (8%). Twenty-four in this group had intracardiac repair since 1973 with one hospital death (4%). The cumulative mortality for the entire cohort is 25%, but more recent experience (1971--77) indicates a cumulative mortality near 5%. The recent mortality rate for staged management is less than the 14% rate reported by others for primary intracardiac repair of tetralogy of Fallot in 205 infants. We conclude that primary intracardiac repair has important advantages for infants with tetralogy of Fallot who have favorable anatomic features and no other associated cardiac lesions or medical problems. Staged management of tetralogy of Fallot is still recommended for infants with unfavorable anatomy, additional lesions or associated medical problems.
Spinal Muscular Atrophy: SMN2 Pre-mRNA Splicing Corrected by a U7 snRNA Derivative Carrying a Splicing Enhancer Sequence
Authors: Julien Marquis, Kathrin Meyer, Larissa Angehrn, Sacha S Kämpfer, Barbara Rothen-Rutishauser, Daniel Schümperli
Journal: Molecular Therapy (2007)

Spinal muscular atrophy (SMA) is a lethal hereditary disease caused by homozygous deletion/inactivation of the survival of motoneuron 1 (SMN1) gene. The nearby SMN2 gene, despite its identical coding capacity, is only an incomplete substitute, because a single nucleotide difference impairs the inclusion of its seventh exon in the messenger RNA (mRNA). This splicing defect can be corrected (transiently) by specially designed oligonucleotides. Here we have developed a more permanent correction strategy based on bifunctional U7 small nuclear RNAs (snRNAs). These carry both an antisense sequence that allows specific binding to exon 7 and a splicing enhancer sequence that will improve the recognition of the targeted exon. When expression cassettes for these RNAs are stably introduced into cells, the U7 snRNAs become incorporated into small nuclear ribonucleoprotein (snRNP) particles that will induce a durable splicing correction. We have optimized this strategy to the point that virtually all SMN2 pre-mRNA becomes correctly spliced. In fibroblasts from an SMA patient, this approach induces a prolonged restoration of SMN protein and ensures its correct localization to discrete nuclear foci (gems). Spinal muscular atrophy (SMA) is a lethal hereditary disease caused by homozygous deletion/inactivation of the survival of motoneuron 1 (SMN1) gene. The nearby SMN2 gene, despite its identical coding capacity, is only an incomplete substitute, because a single nucleotide difference impairs the inclusion of its seventh exon in the messenger RNA (mRNA). This splicing defect can be corrected (transiently) by specially designed oligonucleotides. Here we have developed a more permanent correction strategy based on bifunctional U7 small nuclear RNAs (snRNAs). These carry both an antisense sequence that allows specific binding to exon 7 and a splicing enhancer sequence that will improve the recognition of the targeted exon. When expression cassettes for these RNAs are stably introduced into cells, the U7 snRNAs become incorporated into small nuclear ribonucleoprotein (snRNP) particles that will induce a durable splicing correction. We have optimized this strategy to the point that virtually all SMN2 pre-mRNA becomes correctly spliced. In fibroblasts from an SMA patient, this approach induces a prolonged restoration of SMN protein and ensures its correct localization to discrete nuclear foci (gems).
Therapeutic Drug Monitoring in the Treatment of <i>Mycobacterium avium</i> Complex Lung Disease
Authors: Won-Jung Koh, Byeong-Ho Jeong, Kyeongman Jeon, Soo-Youn Lee, Sung Jae Shin
Journal: American Journal of Respiratory and Critical Care Medicine (2012)

Little is known regarding the application of therapeutic drug monitoring for treatment of Mycobacterium avium complex (MAC) lung disease.To evaluate drug interactions of multidrug regimens and clinical usefulness of therapeutic drug monitoring in the management of MAC lung disease.A total of 130 patients with MAC lung disease and 60 patients with Mycobacterium abscessus complex lung disease were enrolled in this study. All of the MAC patients were treated with multidrug regimens that included clarithromycin (CLR), rifampin (RIF) or rifabutin (RFB), and ethambutol (EMB), and the plasma drug concentrations of CLR, RIF, and EMB were measured.Peak plasma CLR concentrations were lower in patients with MAC lung disease who received daily (median, 0.3 μg/ml) or intermittent (median, 0.2 μg/ml) therapy with CLR in conjunction with RIF in both groups, compared with those diagnosed with M. abscessus complex lung disease who received CLR without RIF (median, 3.8 μg/ml; P < 0.05). The proportion of patients with MAC lung disease who received daily therapy and whose plasma CLR levels were below the target range of 2 μg/ml was 97% (96 of 99), and this rate was 100% (21 of 21) among patients with MAC lung disease who received intermittent therapy. The peak plasma drug concentrations and the peak plasma drug concentration/minimal inhibitory concentration ratios of CLR, RIF, and EMB did not differ between patients with unfavorable treatment outcomes and those with favorable outcomes.Low plasma CLR concentrations were common in patients treated for MAC lung disease. However, there was no association between low plasma CLR concentrations and treatment outcomes. Therefore, therapeutic drug monitoring may not be beneficial in managing the therapy of patients with MAC lung disease.
Gene and Protein Expression following Exposure to Radiofrequency Fields from Mobile Phones
Authors: Jacques Vanderstraeten, Luc Verschaeve
Journal: Environmental Health Perspectives (2008)

Since 1999, several articles have been published on genome-wide and/or proteome-wide response after exposure to radiofrequency (RF) fields whose signal and intensities were similar to or typical of those of currently used mobile telephones. These studies were performed using powerful high-throughput screening techniques (HTSTs) of transcriptomics and/or proteomics, which allow for the simultaneous screening of the expression of thousands of genes or proteins.We reviewed these HTST-based studies and compared the results with currently accepted concepts about the effects of RF fields on gene expression. In this article we also discuss these last in light of the recent concept of microwave-assisted chemistry.To date, the results of HTST-based studies of transcriptomics and/or proteomics after exposure to RF fields relevant to human exposure are still inconclusive, as most of the positive reports are flawed by methodologic imperfections or shortcomings. In addition, when positive findings were reported, no precise response pattern could be identified in a reproducible way. In particular, results from HTST studies tend to exclude the role of a cell stressor for exposure to RF fields at nonthermal intensities. However, on the basis of lessons from microwave-assisted chemistry, we can assume that RF fields might affect heat-sensitive gene or protein expression to an extent larger than would be predicted from temperature change only. But in all likelihood, this would concern intensities higher than those relevant to usual human exposure.The precise role of transcriptomics and proteomics in the screening of bioeffects from exposure to RF fields from mobile phones is still uncertain in view of the lack of positively identified phenotypic change and the lack of theoretical, as well as experimental, arguments for specific gene and/or protein response patterns after this kind of exposure.
The Bradshawe Lecture on Morbid Arterial Tension
Authors: J. F. Goodhart
Journal: BMJ (1885)

IT falls to the lot of the Bradshawe lecturer of to-day to deal with circumstances that are sadly peculiar, and which-young being the days of the foundation-no one has hitherto been called upon to handle.He is here to-day, not in his own right, so to speak, but to fulfil the duty, to reap the pleasures-in this instance but sad ones- which are some of the obligations of friendship.In happier fate, we should have listened to one of the most distinguished of the younger Fellows of this College, as he pointed, as assuredly he would have done, from the honoured and brilliant Past to the hopes of a robust aild seething Present, and then, perhaps, on to the " What Now discovers not, Hereafter knows," and the boundless capacity of the Future-fit subject of discourse by one whose enthusiasm seemed as limitless as it was prodigal.But Mahomed's destiny was not this; his presence has gone o0- wards, and we who remember its individuality and its vigour may well make it our business to inquire what of the essence- "The Livinlg Power, if that which lived True Life, live on" --of that lost individuality is here.But, although thus fettered, as I think, in the choice of a subject upon which to lecture-for there are other matters upon which, as )eing more conversant with them, I would rather dwell-when I ome to examine them, my bonds are those not of restraint, but of reedom.For, on the one hand, the memory of the most illustrious ast, although not dead, yet sleepeth, and the task of wakening may ost gently and naturally come by Time's substitutions and the more vid impressions of its latest finished effort, the more recent Dead.d, on the other, in this particular instance, my subject happily braces the work, not of Mahomed only-not of him first, far from though changeful fortune gives him now a courteous, sad, respecttrecedence-but of such distinguished Fellows of the College, past )resent, as Bright, Sibson, George Johnson, Owen Rees, Sander-Xull, Sutton, Dickinson, Broadbent, Galabin, and others.Inwhen once the enumeration is begun, I know not where one is ; so many, according to -my idea of what arterial tension a, have worked at some branch or other of it.ibject, therefore, is appropriate, whether for a Bradshawe n ordinary, or for one delivered under the-let us hope-,uliar circumstances which attach to that of 1885, or ure emanating from this College; for it concerns itself with a iih, by the work of many of its Fellows, has been made, s, one of the leading pathological and clinical questiyns of
Catheter-Related Bacteremia and Outcome of Attempted Catheter Salvage in Patients Undergoing Hemodialysis
Authors: K A Marr, D J Sexton, P J Conlon, G R Corey, S J Schwab, K B Kirkland
Journal: Annals of Internal Medicine (1997)

Background: Dual-lumen cuffed catheters are used for vascular access in patients undergoing hemodialysis. The incidence and appropriate management of catheter-related bacteremia are unknown. Objective: To determine the incidence and outcome of catheter-related bacteremia and to assess the efficacy of catheter salvage. Design: Prospective, observational study. Setting: University hospital inpatient service and four affiliated outpatient dialysis units. Patients: 102 patients with end-stage renal disease who underwent hemodialysis with dual-lumen cuffed catheters between 1 April 1995 and 1 January 1996. Measurements: Number of days that the catheter remained in situ, treatment (catheter removal or attempted salvage with antibiotic therapy), and outcome of bacteremia. Microbiological cultures were done to identify catheter-related bacteremia. Results: 102 patients had a total of 16 081 catheter-days. Forty-one patients (40%) developed 62 episodes of bacteremia (3.9 episodes per 1000 catheter-days [95% CI, 3.0 to 4.9 episodes per 1000 catheter-days]). Twenty-four catheters (39%) were removed immediately, and 38 (61%) were left in place during treatment. Only 12 (32%) of the 38 catheters were salvaged successfully. Salvage was less likely to succeed in patients with gram-positive bacteremia than in patients with gram-negative bacteremia, but this difference was not statistically significant (P = 0.14). Nine of the 41 patients (22%) who developed bacteremia had the following complications: osteomyelitis (6 patients), septic arthritis (1 patient), infective endocarditis (4 patients), and death (2 patients). All complications followed an episode of gram-positive bacteremia, and none was associated with attempted catheter salvage. Conclusions: Bacteremia frequently occurs in patients undergoing hemodialysis with dual-lumen catheters. Antibiotic therapy without catheter removal is unlikely to eradicate catheter-related bacteremia in these patients, but attempted salvage may not increase the risk for complications.
FDA Tightens Indications for Using Long-Acting and Extended-Release Opioids to Treat Chronic Pain
Authors: Bridget M. Kuehn
Journal: JAMA (2013)

In an effort to help curb the ongoing epidemic of prescription opioid abuse and overdoses, the US Food and Drug Administration (FDA) is tightening the indications for long-acting and extended-release versions of these drugs and is requiring the drugs� manufacturers to conduct long-term postmarketing studies.

�The FDA is concerned about inappropriate use of [opioid pain medications], which has reached epidemic proportions in the United States,� said FDA Commissioner Margaret A. Hamburg, MD, during a press briefing in September.