tbuckley/cabot-search huggingface dataset:
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Authors: Yiwa Suksawat, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
Journal: Journal of Allergy and Clinical Immunology (2016)

22q11.2 deletion is the most common microdeletion syndrome. It is associated with cardiac anomalies, hypocalcemia, characteristic facies and variable decrease in immunological parameters especially in T cell numbers. The objective of this study is to investigate the immunological changes over time. Forty-three medical records of 22q11.2 deletion syndrome patients were reviewed . Immunological parameters were evaluated every 6 months until they returned to normal level. Histories of infections were recorded. Kaplan-Meier survival curves were generated to depict the resolution of immune defect. Forty-three patients, aged 4 to 222 months were studied. Twenty-three (53.5%) of them were female. Twenty-six patients exhibited decreased CD4 numbers. They returned to normal level in 15 (57.7%) patients. The median age of CD4 resolution was 31 months (range 3 – 204 months). T cell functions were abnormal in 3 patients. They returned to normal in all patients at median age 20 months (range 15-28 months). Six patients (13.9%) had abnormal serum immunoglobulin levels and they improved in 2 patients at 4 months and 12 months of age. The most common infection was pneumonia (69.8%). Eight patients (18.6%) did not have history of infection. BCG vaccination was administered in 42 patients at birth. Among 28 patients who had T cell defect, 2 of them developed BCGosis and disseminated BCG. Immunodeficiencies in 22q11.2 deletion syndrome patients were T cell defect (65.1%) and decreased immunoglobulin levels (13.9%). The median age of CD4 resolution was 31 months.
Cellular Immune Responses in Familial Medullary Thyroid Carcinoma
Authors: Ross E. Rocklin, Robert Gagel, Zoila Feldman, Armen H. Tashjian
Journal: New England Journal of Medicine (1977)

We studied prospectively 46 members of a kindred with familial medullary thyroid carcinoma to determine the importance of possible cellular immune reactivity to tumor antigen. We evaluated in vitro production of macrophage-migration-inhibitory factor and 3H-thymidine uptake by lymphocytes from patients, family members and normal subjects in response to extracts of medullary thyroid carcinoma and normal thyroid tissue. Lymphocytes from 12 of 18 patients with medullary thyroid carcinoma and four of seven patients with C-cell hyperplasia produced migration inhibitory factor or proliferated (or both) in response to tumor antigen. In contrast, cells from only two of 25 normal subjects and two of nine family members not genetically at risk for medullary thyroid carcinoma made migration inhibitory factor and proliferated to tumor antigen. Of particular interest, lymphocytes from six of 12 clinically normal family members genetically at risk for medullary thyroid carcinoma exhibited cellular immune reactivity to tumor antigen.
Arthritis with Synovial Iron Deposition in a Patient with Hemochromatosis
Authors: Siegfried J. Kra, J. W. Hollingsworth, Stuart C. Finch
Journal: New England Journal of Medicine (1965)

ALTHOUGH a specific form of arthritis associated with hemochromatosis has not been clearly recognized, Schumacher1 recently reported on 2 patients with arthritis as a prominent symptom in idiopathic hemochromatosis. At the time of that report we were studying a patient with hemochromatosis and an unusual type of polyarthritis. Although extensive phlebotomy therapy had markedly reduced liver iron content a biopsy of the synovium of the knee revealed gross hemosiderin deposits. This unexpected finding supports the suggestion that iron deposition in hemochromatosis is occasionally responsible for a symptomatic arthritis.Case ReportA 63-year-old former newspaperman was admitted to the Yale Clinical . . .
Retrospective analysis of children treated for relapsed acute myelogenous leukemia (rAML): A report from the Therapeutic Advances in Childhood Leukemia (TACL) Consortium
Authors: M. Gorman, R. Ko, L. Ji, R. Sposto, E. Eckroth, P. S. Gaynon, M. Loh
Journal: Journal of Clinical Oncology (2008)

10042 Background: Despite significant progress in childhood AML, with 5-year event free survival ∼50%, relapse remains common. Survival after relapse is no better than 20–30% despite fair success in obtaining second and subsequent complete remissions (CR2, CR3). There is limited data on CR rates for large cohorts of pediatric rAML patients. Methods: The TACL Consortium (www.tacl.us) was formed to evaluate novel drug combinations in patients with relapsed leukemia. To estimate baseline CR2 and CR3 rates in AML, we reviewed all patients treated for rAML between 1995 and 2004 at 8 TACL institutions, examining disease features at diagnosis, therapy, and response. Results: Fifty-three percent of 100 rAML patients were male; 36% were ≥10 years at diagnosis, and 27% had presenting WBC counts ≥50,000/uL. Eighty-nine percent attained CR1 with initial treatment. The majority (97/100) received traditional cytarabine-based AML regimens as initial therapy as well as in first (67/100) relapse, and a significant proportion (16/46) in second relapse. Patients underwent 1 to 5 therapeutic attempts for refractory or relapsed AML. Fifty-seven percent (56/99) of patients achieved CR after a first relapse, 31% (11/35) after a second relapse, and 25% (5/20) after a third relapse. Response to first re-induction was independent of gender, presenting age ≥10 years, or presenting WBC ≥50,000/uL. Patients with CR1 >12 months were more likely to attain CR2 than those with initial CR1<12 months (83% vs 51%, p=0.005). CR rates for initial re-induction attempts depended on whether or not a remission had been initially achieved (63% vs 33%, p=.016). Conclusions: Duration of prior remission is an important predictor of response in childhood rAML. Drug combinations with response rates no better than those reported above are unlikely to contribute to cure. Our findings emphasize the need for novel drug combinations with higher response rates. Author Disclosure Employment or Leadership Consultant or Advisory Role Stock Ownership Honoraria Research Expert Testimony Other Remuneration Therapeutic Advances in Childhood Leukemia Consortium
Respiratory viruses and influenza-like illness: a survey in the area of Rome, winter 2004-2005
Authors: G Rezza, C Valdarchi, S Puzelli, M Ciotti, F Farchi, C Fabiani, L Calzoletti, I Donatelli, C F Perno
Journal: Eurosurveillance (2006)

Limited information is available on the viral aetiology of influenza-like illness (ILI) in Southern European countries. Hereby we report the main findings of a survey conducted in the area of Rome during the 2004-2005 winter season. ILI cases were defined as individuals with fever &amp;gt;37.5°C and at least one constitutional symptom and one respiratory symptom, recruited during the survey period. Influenza and other respiratory viruses were identified using polymerase chain reaction (PCR) on throat swabs. Basic individual information was collected through a standard form. Of 173 ILI cases enrolled, 74 tested positive for one virus, and two tested positive for two viruses. Overall, 33.5% of the cases were positive for influenza viruses, 5.2% for adenoviruses, 3.5% for parainfluenza viruses, 1.7% for coronaviruses, and 1.2% for the respiratory syncitial virus. The proportion of influenza virus detection was higher in the ‘high influenza activity’ period. The distribution of viral agents varied across age groups, influenza viruses being more likely to be detected in younger patients. Viral pathogens were identified in less than 50% of ILI cases occurred during a high activity influenza season. The detection of other than influenza viruses was sporadic, without evidence of large outbreaks due to specific agents.
Review: In HF with reduced EF, nurse-led titration of HF drugs reduces hospitalizations and mortality
Authors: Tina Shah, Anita Deswal
Journal: Annals of Internal Medicine (2016)

Source Citation Driscoll A, Currey J, Tonkin A, Krum H. Nurse-led titration of angiotensin converting enzyme inhibitors, beta-adrenergic blocking agents, and angiotensin receptor blockers for people with heart failure with reduced ejection fraction. Cochrane Database Syst Rev. 2015;12:CD009889. 26689943
US agency says Zika virus causes microcephaly
Authors: Owen Dyer
Journal: BMJ (2016)

Zika virus is the cause of a surge in birth defects across Latin America and the Caribbean, the US Centers for Disease Control (CDC) announced on 13 April, linking Zika infection during pregnancy not only to microcephaly but also to congenital blindness, stillbirth, and other fetal abnormalities.
Case 44-1991
Authors: Richard C. Cabot, Robert E. Scully, Eugene J. Mark, William F. McNeely, Betty U. McNeely, D.J. Schoetz, F. Graeme-Cook
Journal: New England Journal of Medicine (1991)

Presentation of Case First admission. A 17-year-old girl was admitted to the hospital because of recurrent abdominal pain and a mass in the right lower abdominal quadrant.The patient was well until three months earlier, when she experienced the onset of mild-to-moderate nonradiating pain in the right lower quadrant that began just before a menstrual period and subsided after several hours. Mild-to-moderate pain recurred four to seven times weekly, with no temporal relation to the menses. Two weeks before admission a bout of pain was much more severe and crampy, interfered with the patient's sleep, and became "excruciating." She finally . . .
EARLY PLASMA EXCHANGE ALLEVIATES PRO-INFLAMMATORY CYTOKINE SECRETION OF PERIPHERAL MONOCYTES IN PATIENTS WITH ACUTE LIVER FAILURE
Authors: C. Bernsmeier, Vishal C. Patel, A. Singanayagam, C. Willars, W. Bernal, G. Auzinger, C. G. Antoniades, J. Wendon
Journal: Intensive Care Medicine (2014)
Frequency and accuracy of the first-degree family history of cancer in a community-based sample of women with low literacy in the South of Brazil
Authors: F. L. Roth, C. Bochi, E. I. Palmeiro, L. Kalakun, M. Callefi, R. Giugliani, P. A. Prolla
Journal: Journal of Clinical Oncology (2007)

1549 A positive family history (FH) in first-degree relatives (FDR) is one of the most important risk factors for breast cancer. However, there are few published studies about its prevalence in community-based samples. The aim of this study was to evaluate the prevalence of first-degree cancer FH in an unselected sample of low-literacy women recruited in primary-care health centers through an interview and questionnaire. Accuracy of self- reported cancer history in a FDR was also evaluated. Of 6514 women, 4.5% were illiterate and 66% had elementary education. When asked about cancer FH, 23.3% had at least one FDR with cancer. The accuracy of reported FDR history was evaluated by telephone 12 months after the initial interview. Of the 1516 women reporting at least one FDR with cancer, a random telephone contact was made with 710 (46%). In 88% of the patients, the history reported by phone was exactly the same as the one reported initially. In addition, 29 of 710 patients contacted by phone denied cancer history in FDR. In 7.9% of the patients, FDR history of cancer was confirmed, but one of the following inconsistencies in relation to the original report was described: the type of cancer was different or the relative affected was different. We conclude that a significant proportion of women report history of cancer in a FDR accurately, despite of low literacy. These findings have considerable relevance to clinical practice and are important to validate FH taking in cancer risk estimation models that use this variable. No significant financial relationships to disclose.
Disappearance of pH<sup>1</sup>-Positive Cells in Four Patients with Chronic Granulocytic Leukemia after Chemotherapy, Irradiation and Marrow Transplantation from an Identical Twin
Authors: Alexander Fefer, Martin A. Cheever, E. Donnall Thomas, Cheryl Boyd, Robert Ramberg, Harold Glucksberg, C. Dean Buckner, Rainer Storb
Journal: New England Journal of Medicine (1979)

Original Article from The New England Journal of Medicine — Disappearance of pH1-Positive Cells in Four Patients with Chronic Granulocytic Leukemia after Chemotherapy, Irradiation and Marrow Transplantation from an Identical Twin
Early hypertension (HTN) as a potential pharmacodynamic (PD) marker for survival in pancreatic cancer (PC) patients (pts) treated with bevacizumab (B) and gemcitabine (G)
Authors: G. Friberg, K. Kasza, E. E. Vokes, H. L. Kindler
Journal: Journal of Clinical Oncology (2005)

3020 Background: Bevacizumab is a monoclonal Ab to the vascular endothelial growth factor (VEGF). VEGF increases vessel permeability by stimulating endothelial nitric oxide and prostaglandin metabolism. Antagonism of this system causes HTN in >30% of pts treated with B 10mg/kg. We conducted a phase II trial of BG in advanced PC pts (Kindler, ASCO 2004). Methods: We hypothesized that early HTN (defined as ≥Gr 2 HTN during the first 56 days of treatment) would be a PD marker for survival. To test this hypothesis, we performed a retrospective analysis of PC pts treated with BG. Blood pressure (BP) was recorded at least every 14 days; HTN was graded by CTC v2.0 (Gr 2: recurrent, persistent, or symptomatic rise in either DBP by >20 mmHg or to >100, or SBP to >150, if previously ≤140/90; Gr 3: requiring new or increased therapy). Pts were excluded from analysis for early removal from study (prior to day 28) or early death (prior to day 56). Kaplan-Meier estimates and Cox proportional hazard (PH) models were used to evaluate the influence of age, gender, performance status, prior radiation, liver metastases, and early HTN on survival. Results: 52 metastatic PC pts were treated with BG; 23 pts (44%) developed any HTN; maximum grade: Gr 1=6 (12%), Gr 2=7 (13%), Gr 3=10 (19%). Time to first HTN ≥Gr 2 ranged from 13 to 265 days. 46 pts were evaluable for early HTN; 4 were excluded for early discontinuation; 2 were excluded for early death. 6 cases of early HTN (13%) were identified in evaluable pts (none in excluded pts). Median overall survival (OS) for the 6 pts with early HTN was 13.7 months, vs. 8.7 months for the 40 pts without early HTN (log-rank p=0.067). On multivariate analysis, female gender (HR: 0.373, p= 0.01), prior radiation therapy (HR: 0.188, p=0.008), and early HTN (HR: 0.228, p=0.007) predicted improved survival. Results were similar when all 52 pts were analyzed. Conclusions: Early HTN was correlated with improved OS in this retrospective analysis of PC pts treated with BG. Early HTN may be a useful predictive PD marker in pts treated with B. Prospective studies to evaluate HTN as a PD marker for survival in pts treated with B are in development. Supported by NCI Grant N01-CM-17102. Author Disclosure Employment or Leadership Consultant or Advisory Role Stock Ownership Honoraria Research Funding Expert Testimony Other Remuneration Genentech, Lilly Oncology Genentech, Lilly Oncology Lilly Oncology
The Value of a Single Injection of Thyrotropin in the Diagnosis of Obscure Hypothyroidism
Authors: William McK. Jefferies, Richard P. Levy, William G. Palmer, John P. Storaasli, Luther W. Kelly
Journal: New England Journal of Medicine (1953)

ALTHOUGH full-blown myxedema is readily diagnosed, there are many persons in whom a question of hypothyroidism arises, but the clinical picture and customary tests of thyroid function are not sufficiently characteristic to establish a diagnosis. This is particularly true of patients who have been taking thyroid, for in them not only are laboratory tests obscured by the effects of the medication, but also withdrawal of the drug may be followed by a period of hypoactivity of the gland even though function may have been normal before therapy. The establishment of a diagnosis in such cases may require a prolonged period . . .
Transformation In Vitro of Glial Hamster Cells by Rous Sarcoma Virus 2
Authors: G. F. Rabotti, J. Gogusev, B. Teutsch, F. Mongiat-Lardemer, F. Haguenau
Journal: JNCI Journal of the National Cancer Institute (1978)

Cell lines from the brains of inbred CF hamster embryos were established in vitro. The morphology of the cells in the light and electron microscopes was that of glial cells, and the cells contained the nervous system-specific protein S-100. Infection with the Schmidt-Ruppin strain of Rous sarcoma virus, subgroup B, resulted in foci of transformation. The transformed cells were virogenic and upon intracerebral and sc inoculations into young hamsters, they developed into histologically typical gliomas.
Acute Phosphate Nephropathy and Renal Failure
Authors: Simon Desmeules, Marc J. Bergeron, Paul Isenring
Journal: New England Journal of Medicine (2003)

Acute Phosphate Nephropathy and Renal Failureto the editor: Phosphate-based cathartic agents are commonly prescribed for bowel cleansing before colonoscopy.They may have serious side effects, including seizures and acute renal failure.Although the latter complication has been reported on at least three occasions, 1-3 the pathophysiology and histologic lesion underlying it remain unknown.
Cinemicrographic Analysis of Cell Populations &lt;italic&gt;In Vitro&lt;/italic&gt;
Authors: William T. McQuilkin, Wilton R. Earle
Journal: JNCI Journal of the National Cancer Institute (1962)

With low magnification time-lapse cinemicrography we explored some of the dynamic morphologic and behavioral features of cell populations in vitro suitable for use in the characterization and comparison of cell strains. Three cell lines having a common single cell origin but different nutritional histories were used: clone strain NCTC 929, maintained in chick-embryo extract-horse serum medium; strain NCTC 2071, a line of strain 929 adapted to long-term growth in chemically de-fined, protein-free medium NCTC 109; and strain NCTC 3500, a line of strain 2071 that was returned to chick-embryo extract-horse serum medium. Certain striking changes in cell appearance and activity resulted from the adaptation of the cell strain from the protein-containing medium to the chemically defined medium. These included marked changes in cell morphology, reduction of intercellular cohesion, increased adhesiveness of cells to the glass substrate, and resultant greatly decreased cell migration. Such changes apparently were not primarily the result of cell selection inasmuch as the characteristics of cells of the line returned to the protein medium tended to revert to those of the original strain. The results emphasize the importance of the influence of the nutritional environment on the appearance and activity of cells. Technical difficulties in the use of cinemicrography for determination of rates of cell proliferation and population increase are considdered.
Diversity and severity of adverse reactions to quinine: A systematic review
Authors: Nathan W. Liles, Evaren E. Page, Amber L. Liles, Sara K. Vesely, Gary E. Raskob, James N. George
Journal: American Journal of Hematology (2016)

Quinine is a common cause of drug-induced thrombocytopenia and the most common cause of drug-induced thrombotic microangiopathy. Other quinine-induced systemic disorders have been described. To understand the complete clinical spectrum of adverse reactions to quinine we searched 11 databases for articles that provided sufficient data to allow evaluation of levels of evidence supporting a causal association with quinine. Three reviewers independently determined the levels of evidence, including both immune-mediated and toxic adverse reactions. The principal focus of this review was on acute, immune-mediated reactions. The source of quinine exposure, the involved organ systems, the severity of the adverse reactions, and patient outcomes were documented. One hundred-fourteen articles described 142 patients with definite or probable evidence for a causal association of quinine with acute, immune-mediated reactions. These reactions included chills, fever, hypotension, painful acral cyanosis, disseminated intravascular coagulation, hemolytic anemia, thrombocytopenia, neutropenia, acute kidney injury, rhabdomyolysis, liver toxicity, cardiac ischemia, respiratory failure, hypoglycemia, blindness, and toxic epidermal necrolysis. One hundred-two (72%) reactions were caused by quinine pills; 28 (20%) by quinine-containing beverages; 12 (8%) by five other types of exposures. Excluding 41 patients who had only dermatologic reactions, 92 (91%) of 101 patients had required hospitalization for severe illness; 30 required renal replacement therapy; three died. Quinine, even with only minute exposure from common beverages, can cause severe adverse reactions involving multiple organ systems. In patients with acute, multi-system disorders of unknown origin, an adverse reaction to quinine should be considered.
Case 14-2003
Authors: Aaron B. Waxman, Jo-Anne O. Shepard, Eugene J. Mark
Journal: New England Journal of Medicine (2003)

Presentation of CaseA 73-year-old woman was transferred to this hospital because of worsening pneumonia, increasing hypoxia, and azotemia.She had been well until 17 days before admission, when nonbloody diarrhea and fatigue began. The diarrhea resolved five days later, but the fatigue persisted, with lethargy that worsened for several days. Seven days before admission, the diarrhea recurred and was accompanied by vomiting, chills, fever, lower abdominal cramps, diffuse myalgia, and a frontal headache. There was no cough, dyspnea, chest pain, or hemoptysis. She was taken to another hospital.When the patient arrived at the other hospital, the temperature was . . .
The serine protease Pic as a virulence factor of atypical enteropathogenic<i>Escherichia coli</i>
Authors: Afonso G. Abreu, Cecilia M. Abe, Kamila O. Nunes, Claudia T. P. Moraes, Lucia Chavez-Dueñas, Fernando Navarro-Garcia, Angela S. Barbosa, Roxane M. F. Piazza, Waldir P. Elias
Journal: Gut Microbes (2016)

Autotransporter proteins (AT) are associated with bacterial virulence attributes. Originally identified in enteroaggregative Escherichia coli (EAEC), Shigella flexneri 2a and uropathogenic E. coli, the serine protease Pic is one of these AT. We have previously detected one atypical enteropathogenic E. coli strain (BA589) carrying the pic gene. In the present study, we characterized the biological activities of Pic produced by BA589 both in vitro and in vivo. Contrarily to other Pic-producers bacteria, pic in BA589 is located on a high molecular weight plasmid. PicBA589 was able to agglutinate rabbit erythrocytes, cleave mucin and degrade complement system molecules. BA589 was able to colonize mice intestines, and an intense mucus production was observed. The BA589Δpic mutant lost the capacity to colonize as well as the above-mentioned in vitro activities. Thus, Pic represents an additional virulence factor in aEPEC strain BA589, associated with adherence, colonization and evasion from the innate immune system.
Syndrome of Acquired Factor X Deficiency and Systemic Amyloidosis
Authors: Bruce Furie, Edith Greene, Barbara C. Furie
Journal: New England Journal of Medicine (1977)

To determine the metabolic fate of factor X in primary amyloidosis associated with factor X deficiency, we examined the pathways of its catabolism in a man with this syndrome. Intravenous infusion of human or bovine 131I-labeled factor X established a triphasic plasma clearance pattern for factor X. About 85 per cent of the factor X disappeared, with a disappearance half-time of less than 30 seconds. A second and third phase showed a T1/2 of 90 minutes and nine hours respectively. 131I-labeles factor X in plasma did not appear to be rapidly modified or degraded. Relatively minor quantities of 131I were cleared into the urine. We observed a diffuse distribution of radioactivity over the body surface, with a concentration in the hepatic and splenic regions. These studies demonstrate than factor X deficiency associated with systemic amyloidosis is due to binding of factor X to body tissue, probably within the circulatory system.