tbuckley/cabot-search huggingface dataset:
Amniocentesis in Tay-Sachs Disease
Authors: Fred Rosner
Journal: JAMA (1974)

<h3>To the Editor.—</h3> Tay-Sachs disease is an inborn metabolic disorder, essentially peculiar to Jews, consisting of deficiency or absence of hexosaminidase A. The disease is invariably fatal, usually before 2 or 3 years of age. The carrier or heterozygous state occurs in approximately 1 in 30 Ashkenazi Jews, and is a harmless condition. If two carriers marry, the statistical probability is that one quarter of the offspring will have the full-blown fatal disease, one half will be carriers like the parents, and one quarter will be totally free of the Tay-Sachs gene, according to simple Mendelian genetics. Widespread screening for the carrier state has been undertaken in the United States<sup>1</sup>and the United Kingdom.<sup>2</sup>Many laboratories are now offering to carry out tests for the prenatal diagnosis of Tay-Sachs disease by the application of amniocentesis. If the fetus is determined to have Tay-Sachs disease, an abortion is then
The impact of GINA suggested drugs for the treatment of asthma on Health‐Related Quality of Life: a GA<sup>2</sup>LEN review
Authors: I. Baiardini, F. Braido, S. Brandi, F. Tarantini, S. Bonini, P. J. Bousquet, T. Zuberbier, P. Demoly, G. W. Canonica
Journal: Allergy (2008)

Asthma represents a serious global health problem. People of all ages in countries throughout the world are affected by this chronic airway disorder that, when uncontrolled, can place severe limits on daily life and can even be fatal. Asthma cannot be removed, but asthmatic symptoms can be cured; as for many other chronic diseases, pharmacotherapy is important to reduce the risk of asthma‐related mortality, decrease disability and improve symptoms and quality of life. The action of antiasthmatic drugs directly contributes to decrease symptoms severity, improve spirometric results, reduce airway hyperresponsiveness and prevent irreversible airway remodelling. Antiasthmatic therapy is necessary for long‐term control of asthma symptoms. Asthma and antiasthmatic drugs can influence patient’s quality of life: this is why healthcare systems have recently focused on research studies about Health‐Related Quality of Life (HRQL) in asthmatic patients. Numerous validated questionnaires are available and many studies have been performed evaluating HRQL in people affected by asthma, thus testifying a great interest in this topic. The aims of the present review are to examine the scientific literature of the last 4 years (January 2004–December 2007) dealing with the impact of asthma treatments suggested by Global Initiative for Asthma guidelines on patients’ quality of life, and to identify the unexplored or not fully investigated areas concerning this issue.
Antimitochondrial antibody negative primary biliary cirrhosis: a distinct syndrome of autoimmune cholangitis.
Authors: P Michieletti, I R Wanless, A Katz, P J Scheuer, S J Yeaman, M F Bassendine, J M Palmer, E J Heathcote
Journal: Gut (1994)

This study reports on a group of 20 patients with an initial diagnosis of primary biliary cirrhosis (PBC) whose serum tested negative for antimitochondrial antibodies by immunofluorescence. All had a clinical history compatible with primary biliary cirrhosis, and results of biochemical, histological, and radiological investigations were consistent with this diagnosis despite the absence of antimitochondrial antibodies by immunofluorescence. For comparison, these patients were matched for sex and serum bilirubin with 20 antimitochondrial antibody positive (> 1:160) and histologically confirmed primary biliary cirrhosis patients who served as controls. Serum samples from both groups were retested blindly for antimitochondrial antibodies using immunoblotting and for antibodies to the major M2 mitochondrial autoantigens by enzyme linked immunosorbent assay (ELISA). Three antimitochondrial antibody immunofluorescence negative patients had antimitochondrial antibodies by immunoblotting and ELISA; the remaining 17 patients were confirmed negative by all methods. The antimitochondrial antibody immunofluorescence positive controls were verified by immunoblotting or ELISA, or both. All 17 patients negative for antimitochondrial antibodies had antinuclear antibodies, often in high titres, compared with 3/17 of the antimitochondrial antibody positive controls (p = 0.0001). Additionally, the antimitochondrial antibody negative group also had significantly higher smooth muscle antibody titres (p = 0.03) and lower serum IgM (p = 0.01) and aspartate aminotransferase (p = 0.03) activities than the antimitochondrial antibody positive controls. Analysis of clinical findings, histological tests, serum bilirubin, alkaline phosphatase, alanine aminotransferase, and IgG, disclosed no significant differences between the two groups. This paper describes a group of patients with the clinical and histological features of PBC but who do not fulfil the usual criteria necessary to make this diagnosis. Because they also have very high titres of antinuclear antibodies, smooth muscle antibodies, and comparatively low IgM and aspartate aminotransferase activities, we believe they are distinct from PBC and have a syndrome of autoimmune cholangitis.
The Trouble with Doctors: Fashions, Motives and Mistakes
Authors: P. Hammond
Journal: BMJ (2004)

Every generation of doctors needs a book that makes us stand back from the edge and question what we do. For me it was Peter Skrabanek and John McCormick's Follies and Fallacies in Medicine . For previous generations it was Ivan Illich's Limits to Medicine that rattled the cage, though neither book is as funny as the 100 year old tirade in the preface to George Bernard Shaw's The Doctor's Dilemma . I was hoping Ann Dally's book would be the latest addition to a satirical audit trail going back to Moliere's Le Malade Imaginaire and before, but it doesn't quite fit the …
HMGB1 and LPS induce distinct patterns of gene expression and activation in neutrophils from patients with sepsis-induced acute lung injury
Authors: Eliezer Silva, John Arcaroli, Qianbin He, Daiva Svetkauskaite, Christopher Coldren, Jerry A. Nick, Katie Poch, Jong Sung Park, Anirban Banerjee, Edward Abraham
Journal: Intensive Care Medicine (2007)
AMERICAN BOARD OF OBSTETRICS AND GYNECOLOGY
Authors: Fred L. Adair
Journal: JAMA (1935)

To the Editor:—  I was interested in reading the report of the Council on Medical Education and Hospitals as published inThe Journal, March 30. I was particularly interested in comments relative to obstetrics and the report of the Committee on Maternal Mortality of the New York Academy of Medicine. You are probably cognizant of the volume published by the White House Conference on Child Health and Protection which deals with the question of obstetric education. This report was rather carefully prepared after a comprehensive study and it should be of assistance to the Council on Medical Education and Hospitals as well as others who are interested in improving obstetric education in this country.  The comments in paragraph 3, page 1065, were of interest. I think that the Council is under some misapprehension, since the American Board of Obstetrics and Gynecology does not attempt to draw an arbitrary line between
Trial of Phenoxymethylpenicillin, Phenethicillin, and Lincomycin in Treatment of Staphylococcal Sepsis in a Casualty Department
Authors: D. J. E. Price, F. W. O'Grady, R. A. Shooter, P. C. Weaver
Journal: BMJ (1968)

A comparative trial of phenoxymethylpenicillin (penicillin V), phenethicillin (Broxil), and lincomycin (Lincocin) against superficial staphylococcal infections seen in a casualty department showed no difference in the efficacy of the three agents, though half the staphylococci isolated were resistant to penicillin. Possible reasons include the fact that antibiotic treatment may not affect superficial staphylococcal infections, or that the organisms concerned may have been weak formers of penicillinase.Half the patients treated with lincomycin complained of diarrhoea and 5% of those treated with phenethicillin suffered from nausea.
High prevalence of<i>HFE</i>gene mutations in patients with porphyria cutanea tarda in the Czech Republic
Authors: K. Kratka, M. Dostalikova-Cimburova, H. Michalikova, J. Stransky, J. Vranova, J. Horak
Journal: British Journal of Dermatology (2008)

Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT).To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes.Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT.The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0.001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT.There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.
Side effects of therapy with prostaglandin E1 in infants with critical congenital heart disease.
Authors: A B Lewis, M D Freed, M A Heymann, S L Roehl, R C Kensey
Journal: Circulation (1981)

The case reports of 492 infants with critical congenital cardiac disease treated with prostaglandin E1 (PGE1) were reviewed to determine the nature and incidence of intercurrent medical events. Forty-three percent of the infants had at least one such event, but only half of these were related to PGE1 and the majority required only minor changes in management. Cardiovascular events were the most common (18% incidence), with cutaneous vasodilation and edema occurring more frequently during intraaortic infusion than during i.v. infusion. Central nervous system events were reported in 16% of the patients. Respiratory depression was reported in 12%, and was particularly common in infants weighing less than 2.0 kg at birth (42%). Hematologic, infectious and renal events appeared for the most part to be unrelated to PGE1. The overall mortality (excluding 19 patients with hypoplastic left-heart syndrome) was 31%; the mortality for the patients with critical coarctation or interruption of the aortic arch was nearly twice that for the cyanotic infants (50% vs 27%). No death was attributed to PGE1 administration. During infusion of PGE1, arterial blood pressure and respiratory activity should be monitored carefully and appropriate supportive steps taken if hypotension or respiratory depression occurs. The development of fever or jitteriness may require reduction of the infusion rate and, in view of the possible increased incidence of infections, the prophylactic use of antibiotics is recommended.
Retained Fecalith as Late Complication of Appendectomy
Authors: Martien Mulder
Journal: JAMA (1973)

To the Editor.—  An unrecognized, retained appendiceal, fecalith giving rise to an intra-abdominal abscess seven years after appendectomy, is a rare and unexpected postoperative complication. Only four similar cases have been recorded. 1-4   Report of a Case.—  A 22-year-old white man was admitted to the hospital for the first time in December 1970 with a threeday history of malaise, fever, and persistent, dull aching right upper quadrant abdominal pain. He denied nausea and vomiting, jaundice, acholic stools, melena, or diarrhea.  His earlier medical history was of considerable interest. In 1963 he underwent an appendectomy at a community hospital. The operative finding was acute, perforated appendicitis. He made an uneventful recovery, resuming oral feedings on the third day, and he was discharged on the seventh postoperative day. He remained totally asymptomatic during the next four years.  In September 1967 he was admitted to a community hospital with fever and right upper
Penile Malignancy and Hypercalcemia
Authors: E. Everett Anderson
Journal: JAMA (1965)

THE DIFFERENTIAL diagnosis of hypercalcemia includes hyperparathyroidism, hypervitaminosis D, the milk-alkali syndrome, sarcoidosis, multiple myeloma, hyperthyroidism, acute osteoporosis, and metastatic bone disease. Recently there have been 30 sporadic case reports of hypercalcemia occurring in patients with nonparathyroid neoplasms without significant bone disease.1-4The present report concerns the first case known to us of squamous-cell carcinoma of the penis, with hypercalcemia and without evident bone metastases; serum calcium level returned to normal within 24 hours after removal of the primary penile lesion.  Report of a Case  A 60-year-old white man was admitted May 12, 1964, with a six-month history of induration and ulceration of the glans, bilateral inguinal lymphadenopathy, decrease in size of urinary stream, burning on urination, progressive weight loss, generalized malaise, lethargy, and muscular weakness. He denied a history of polyuria, polydipsia, renal colic, renal stones, bone pain, nausea, vomiting, indigestion, constipation, dryness of the nose, dysphasia, cardiac
Clinical Internal Medicine in the Aged
Authors: C. Anderson Hedberg
Journal: JAMA (1983)

The life span of any civilization can be measured by the respect and care that is given to its elderly citizens, and those societies which treat the elderly with contempt have the seeds of their own destruction within them. This quotation from Arnold Toynbee is one of many that precede chapters in this fine multiauthored volume. It sounds an urgent challenge for members of our health care system to educate and sensitize themselves for the medical treatment of the elderly. Fortunately, many medical schools and residency programs are now developing training opportunities in this long-neglected area, which is the natural and expanding province of the internist and family practitioner.  This book admirably fills a need for a concise, thorough summary of the special medical knowledge needed for geriatric medicine. It is not a repeat of the standard textbooks of medicine, but focuses on diagnostic and therapeutic considerations as applied to
Non-communicable diseases must have greater priority, says WHO
Authors: J. Zarocostas
Journal: BMJ (2009)

The World Health Organization has launched a new global initiative to try to ensure that non-communicable diseases urgently get given much greater priority in the health and development policies of poor nations and on global aid agendas.

At present non-communicable diseases such as heart disease, stroke, cancer, diabetes, and chronic lung disease are responsible for about 35 million deaths each year, or 60% of all deaths worldwide, says WHO. Of these, 80% occur in low and middle income nations.

All four diseases share the same risk factors: tobacco use, unhealthy diets, physical inactivity, and harmful use of alcohol, say WHO experts.

The agency predicts that percentage increases in mortality from non-communicable diseases will reach double digits in the coming years, thus …
“Serious” and “severe” adverse drug reactions need defining
Authors: Christian Frankenfeld
Journal: BMJ (2004)

Cholesterol values seem to divergeEditor-The targets for cholesterol management seem to be ever decreasing, but I cannot get my head around the fact that in the new guidelines from the British Hypertension Society box 8 suggests we should consider treatment if the 10 year risk of cardiovascular disease is > 20% and the total cholesterol level is > 3.5 mmol/l but the target to be attained, which is printed beside box 8, is higher, 4 mmol/l. 1 Can someone explain this anomaly to a simple general practitioner who will have to explain it to patients?
Inositol 1,3,4,5-Tetrakisphosphate Negatively Regulates Phosphatidylinositol-3,4,5- Trisphosphate Signaling in Neutrophils
Authors: Yonghui Jia, Kulandayan K. Subramanian, Christophe Erneux, Valerie Pouillon, Hidenori Hattori, Hakryul Jo, Jian You, Daocheng Zhu, Stephane Schurmans, Hongbo R. Luo
Journal: Immunity (2007)
Vaccination Against Measles: Part II. Clinical Trial in Nigerian Children
Authors: P. Collard, R. G. Hendrickse, D. Montefiore, P. Sherman, H. M. Van Der Wall, D. Morely, A. P. Goffe, G. D. Laurence, T. M. Pollock
Journal: BMJ (1961)

Human Volunteers.-Before vaccines 3C and 4A were used in children, three adult volunteers were injected subcutaneously with each batch.No untoward reactions occurred.
Mechanisms of reflex vasodilation: assessment of the role of neural reuptake of norepinephrine and release of histamine
Authors: Gerald Glick, Andrew S. Wechsler, Stephen E. Epstein
Journal: Journal of Clinical Investigation (1968)

The mechanisms of reflex vasodilation were studied in an innervated canine hindlimb preparation which was perfused at a constant rate. Reflex vasodilation was produced by suddenly increasing the pressure in the trunk by the intravenous injection of norepinephrine, with consequent stimulation of the baroreceptors. When the basal vasoconstrictor tone exerted by the sympathetic nervous system on the systemic arterial bed was minimized, either by pretreatment with the alpha adrenergic blocking agent phenoxybenzamine or with reserpine, which depletes endogenous catecholamine stores, reflex vasodilation was virtually abolished. Administration of cocaine, a drug which blocks reuptake of norepinephrine by the nerve terminals, significantly reduced reflex vasodilation, the response after cocaine averaging 47% of the vasodilator response in the control period. Cocaine also potentiated the vasoconstriction caused by intra-arterially administered norepinephrine but attenuated the vasoconstriction induced by tyramine. The antihistamine, tripelennamine, had effects similar to those of cocaine. It is suggested, therefore, that reflex vasodilation results from a sudden decrease in the level of norepinephrine at the neuroeffector junction, which is a consequence of the cessation of norepinephrine secretion, together with continued and possibly augmented uptake. When the uptake mechanism is impaired, either by the administration of cocaine or tripelennamine, the magnitude of reflex vasodilation is diminished. It does not appear necessary to postulate active secretion of a vasodilator substance to account for reflex vasodilation.
Right ventricular dysfunction and risk of heart failure and mortality after myocardial infarction
Authors: Leonardo A.M. Zornoff, Hicham Skali, Marc A. Pfeffer, Martin St. John Sutton, Jean L. Rouleau, Gervasio A. Lamas, Ted Plappert, Jacques R. Rouleau, Lemuel A. Moyé, Sandra J. Lewis, Eugene Braunwald, Scott D. Solomon
Journal: Journal of the American College of Cardiology (2002)
Free-floating Thrombus Identified by Radionuclide Venogram
Authors: DAVID COHEN, SAMUEL ZALTZMAN
Journal: Clinical Nuclear Medicine (1992)

A young woman was referred for a radionuclide venogram for suspected deep vein thrombosis of her right leg. During the course of the examination, the thrombus ascended freely from the calf to the popliteal and iliofemoral regions. Eventually, it became lodged in the left pulmonary hilium. No significant lung perfusion defect was noted, and the patient remained asymptomatic. Thrombosis with free-floating elements is a poorly recognized condition. Some of these nonadherent thrombi are considered to represent a significant risk for subsequent embolism. Caution is indicated when performing an invasive diagnostic procedure in these patients.
Dangerous Dose of P32
Authors: Marshall Brucer
Journal: JAMA (1961)

<h3>To the Editor:—</h3> The first editor to be removed from his post for misprinting a lethal dosage lived in early Pleistocene times. He had carved on the walls of his cave that the proper dose for the treatment of arthritis was 3 millieels of electricity rather than 3 microeels. InThe Journal, Jan. 21, page 254, an item in the Foreign Letters recommends that 530<i>milli</i>curies of P<sup>32</sup>be used for determining the uptake of a tumor. This should really be 530<i>micro</i>curies. The very simple typographical error of using the symbol mc instead of the symbol μc is so common that we recommend all medical dosage of lethal radioactive materials have their units written out as millicuries, not as mc, or as microcuries, not as μc. This is the fourth time this typographical error has occurred inThe Journal. It is dangerous. Five hundred and thirty
Lack of chemokine receptor CCR5 promotes murine fulminant liver failure
Authors: Gisa Tiegs
Journal: Hepatology (2006)

Abstract Fulminant liver failure (FLF) consists of a cascade of events beginning with a presumed uncontrolled systemic activation of the immune system. The etiology of FLF remains undefined. In this study, we demonstrate that CCR5 deficiency promotes the development of acute FLF in mice following Con A administration by preventing activated hepatic CD1d-restricted NKT cells (but not conventional T cells) from dying from activation-induced apoptosis. The resistance of CCR5-deficient NKT cells from activation-induced apoptosis following Con A administration is not due to a defective Fas-driven death pathway. Moreover, FLF in CCR5-deficient mice also correlated with hepatic CCR5-deficient NKT cells, producing more IL-4, but not IFN-γ, relative to wild-type NKT cells. Furthermore, FLF in these mice was abolished by IL-4 mAb or NK1.1 mAb treatment. We propose that CCR5 deficiency may predispose individuals to the development of FLF by preventing hepatic NKT cell apoptosis and by regulating NKT cell function, establishing a novel role for CCR5 in the development of this catastrophic liver disease that is independent of leukocyte recruitment.
The Health of Native Americans: Toward a Biocultural Epidemiology
Authors: Jonathan R. Sugarman
Journal: JAMA (1995)

Despite the considerable volume of health research involving the indigenous peoples of North America during the last half century, few attempts have been made to synthesize this body of work into a cohesive whole. T. Kue Young's<i>The Health of Native Americans: Toward a Biocultural Epidemiology</i>is an excellent synopsis of the health status of Native Americans in the United States and Canada. Young's goals were "to take a critical and comprehensive look at what is known about the state of health of Native Americans, why certain diseases are common, and how best to prevent and control them." To varying degrees, he has succeeded in reaching each of these goals. The book includes a general introduction to Native Americans, which concisely describes a number of cultural, social, and demographic features of the indigenous populations of North America. This introduction will serve to orient readers unfamiliar with the field to a
Leukopenia in Still's Disease
Authors: JOHN J. Calabro
Journal: JAMA (1985)

To the Editor.—  Regarding the brief report by Scopelitis and colleagues, 1 we concur with their conclusion that a diagnosis of Still's disease or systemic rheumatoid arthritis (RA) should not be overlooked because of the absence of leukocytosis. In fact, in previous reports 2,3 of 20 children with systemic RA, one had a normal white blood cell count and the other was leukopenic. Leukocytosis was present in 18 children (90%), with a WBC count between 10,000 and 20,000/cu mm in two patients, 20,000 and 30,000 in ten, 30,000 and 50,000 in five, and up to 80,000 in one. Moreover, in a recent review of 17 adults with systemic RA, two had leukopenia, and the WBC count was normal in one. 4 Consequently, since leukopenia is uncommon in systemic RA, it is critical to rule out other causes of high fever, rash, and arthritis-arthralgia, especially SLE and leukemia. Nevertheless, the two
Trends in the burden of foodborne disease in the Netherlands, 2006–11: a systematic analysis
Authors: Arie H Havelaar, Martijn Bouwknegt, Juanita A Haagsma, Marie-Josée J Mangen, Linda P B Verhoef, Ingrid H M Friesema, Laetitia M Kortbeek, Wilfrid van Pelt
Journal: The Lancet (2013)