tbuckley/cabot-search huggingface dataset:
ROENTGEN DIAGNOSIS OF GASTRIC SYPHILIS
Authors: LEON THEODORE LeWALD
Journal: JAMA (1931)

In June, 1913, I made my first roentgenologic diagnosis of gastric syphilis. The diagnosis was made prior to the examination of the blood, which later was reported as giving a four plus Wassermann reaction. The diagnosis was confirmed also by operation, at which time a gastro-enterostomy was performed by Dr. W. A. Downes, who used the proximal portion of a stomach showing the dumb-bell type of hour-glass deformity. The patient, at that time a girl, aged 14, was referred to me for roentgen examination from the outpatient department of St. Luke's Hospital, New York, with the clinical diagnosis of esophageal stricture. The case was evidently one of congenital syphilis (fig. 1<i>A</i>). I have reexamined this patient several times. The last examination, made June 12, 1930, seventeen years after gastro-enterostomy, shows that the stomach empties readily through the new opening. Some dilatation of the esophagus still remains as noted at
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in<i><scp>PORCN</scp></i>detected in affected skin
Authors: J. Sheu, S.J. Divito, E.P. Hoffman, N.Y. Frank, J.F. Merola
Journal: British Journal of Dermatology (2015)

Journal Article Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin Get access J. Sheu, J. Sheu Harvard Medical School Boston MA U.S.A Search for other works by this author on: Oxford Academic Google Scholar S.J. Divito, S.J. Divito Harvard Medical School Boston MA U.S.ADepartment of Dermatology Brigham and Women's Hospital Boston MA 02115 U.S.A Search for other works by this author on: Oxford Academic Google Scholar E.P. Hoffman, E.P. Hoffman Division of Genetics Department of Medicine Brigham and Women's Hospital Boston MA 02115 U.S.A Search for other works by this author on: Oxford Academic Google Scholar N.Y. Frank, N.Y. Frank Harvard Medical School Boston MA U.S.ADivision of Genetics Department of Medicine Brigham and Women's Hospital Boston MA 02115 U.S.A Correspondence: Natasha Y. Frank and Joseph F. Merola. E‐mails: nfrank@partners.org; jfmerola@partners.org Search for other works by this author on: Oxford Academic Google Scholar J.F. Merola J.F. Merola Harvard Medical School Boston MA U.S.ADepartment of Dermatology Brigham and Women's Hospital Boston MA 02115 U.S.A Correspondence: Natasha Y. Frank and Joseph F. Merola. E‐mails: nfrank@partners.org; jfmerola@partners.org Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 173, Issue 2, 1 August 2015, Pages 568–570, https://doi.org/10.1111/bjd.13649 Published: 01 August 2015
Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia
Authors: Arleen D. Auerbach, Michael A. Weiner, Dorothy Warburton, Kwame Yeboa, Li Lu, Hal E. Broxmeyer
Journal: American Journal of Hematology (1982)

Abstract A six‐year‐old girl with Fanconi anemia (FA) developed acute myeloid leukemia (AML) as the first hematologic manifestation of the syndrome. She remains in remission 18 mo after diagnosis although her management is complicated by unusual sensitivity to chemotherapeutic agents. Marrow cells studied prior to initiation of leukemia therapy showed increased chromosome breakage and an abnormal clone in which a number 7 and a number 8 chromosome were replaced by two marker chromosomes. During the present remission her cultured lymphocytes, bone marrow cells, and fibroblasts showed increased “spontaneous” chromosome breakage as well as enhanced sensitivity to the clastogenic effect of the difunctional alkylating agent diepoxybutane (DEB), features characteristic of FA. Eight months into remission 50% of her marrow cells comprised an abnormal clone, which was monosomic for the number 7 chromosome but had both copies of number 8; in addition a variable number of unique marker chromosomes were present in clonal as well as nonclonal cells. This same marrow sample, upon culture, showed an abnormal growth pattern of CFU‐GM, absence of detectable CFU‐GEMM and BFUe, non‐responsiveness of CFU‐GM to inhibition by acidic isoferritins, increased bone marrow acidic isoferritin inhibitory activity, and absence of detectable bone marrow cell‐derived GM‐CSF. The implications of these findings to leukemogenesis in FA are discussed.
Evidence for transient linking of atrial excitation during atrial fibrillation in humans.
Authors: E P Gerstenfeld, A V Sahakian, S Swiryn
Journal: Circulation (1992)

BACKGROUND Atrial fibrillation is usually thought of as a "random" pattern of circulating wavelets. However, local atrial activation should be influenced by the constant anatomy and receding tail of refractoriness from the previous activation. The general tendency for wave fronts to follow paths of previous excitation has been termed "linking." We examined intra-atrial electrograms recorded during atrial fibrillation for evidence of linking. METHODS AND RESULTS Two minutes of atrial fibrillation were recorded in 15 patients with an orthogonal catheter. We have previously demonstrated that this catheter can be used to detect changes in the direction of local atrial activation. A mean vector was calculated for each electrogram. The similarity of the direction of the vectors from two consecutive electrograms can be quantified on a scale of 1 to -1 by calculating the cosine (cos) of the smallest angle (theta) between them. Two vectors pointing in the same or opposite directions then have cos(theta) = 1 or -1, respectively. For the entire group of patients, mean cos(theta) was significantly greater than 0 (mean, 0.36; p less than 0.001). In nine of 15 patients, there were groups of six or more consecutive beats (total, 44 groups; range, six to 14 beats per group) in which the direction of activation of each beat was within 30 degrees of the previous beat. The likelihood of one group of six or 14 consecutive similar beats occurring by chance in any one patient in 1 minute is less than 0.05 and less than 0.0000001, respectively. There was a significant correlation (r = 0.90) between the amount of linking during the first and second minutes of atrial fibrillation in each patient. CONCLUSIONS Transient similarities in the direction of wavelet propagation in the majority of patients with atrial fibrillation is consistent with the presence of transient linking. To our knowledge, this is the first direct evidence that atrial activation during atrial fibrillation in humans is not entirely random.
Decrease in hepatic CD56+ T cells and Vα24+ natural killer T cells in chronic hepatitis C viral infection
Authors: Tina Deignan, Michael P Curry, Derek G Doherty, Lucy Golden-Mason, Yuri Volkov, Suzanne Norris, Niamh Nolan, Oscar Traynor, Gerry McEntee, John E Hegarty, Cliona O'Farrelly
Journal: Journal of Hepatology (2002)
Serum increase and liver overexpression of carbohydrate 19.9 antigen in patients with genetic haemochromatosis.
Authors: Y M Deugnier, A F Rabot, D Guyader, R Moirand, B Turlin, E Boucher, P Lebert, P Brissot
Journal: Gut (1994)

CA 19.9 antigen is mainly secreted by biliary and pancreatic duct cells. Its metabolism could be modified in genetic haemochromatosis by iron accumulation within these cells. Therefore, CA 19.9 was assayed in the serum samples of 84 patients with genetic haemochromatosis before and after iron depletion and immunolocalised in the liver of 24 untreated genetic haemochromatosis cases. The study showed that serum CA 19.9 (N &lt; 37 IU/l) was increased (SD) before treatment (41.2 (34)) when compared with after the venesection period (16 (12)), and correlated, before treatment, with the amount of iron excess, transaminases, fibrosis, and biliary iron deposits. Hepatic CA 19.9 was located within the cytoplasm of bile duct and cholangiolar cells. In conclusion, this study shows that a mild, reversible, and non-specific increase in serum CA 19.9 is common in genetic haemochromatosis patients and shows that this increase is related to iron excess, directly or through associated liver damage. The unexplained finding of a mild increase in serum CA 19.9 should lead, in a patient with no diagnosis, to the search for liver iron overload, and, in a patient with untreated genetic haemochromatosis, not to further diagnostic procedures unless this finding persists after completion of the venesection treatment.
Relationship of resting hemoglobin concentration to peak oxygen uptake in heart failure patients
Authors: Piergiuseppe Agostoni, Elisabetta Salvioni, Chiara Debenedetti, Carlo Vignati, Gaia Cattadori, Mauro Contini, Damiano Magrì, Pietro Palermo, Erica Gondoni, Denise Brusoni, Cesare Fiorentini, Anna Apostolo
Journal: American Journal of Hematology (2010)

Anemia is frequent in chronic heart failure (HF). To calculate what change in peak oxygen uptake ( VO(2)) should be expected in the event of changes in hemoglobin concentration, we studied the correlation between peak VO(2) and hemoglobin concentration in a large HF population. We carried out retrospective analysis of all cardiopulmonary exercise tests (CPET) performed in our HF Clinic between June 2001 and March 2009 in HF patients who had a resting hemoglobin concentration measurement taken within 7 days of the CPET. We collected 967 CPETs, 704 tests were considered maximal and analyzed. We identified 181 patients (26%) as anemic. Peak VO(2) was lower (P < 0.001) in anemic patients (971 +/- 23 ml/min) compared with nonanemic (1243 +/- 18 ml/min). The slope of the VO(2) vs. hemoglobin ratio was 109 ml/min/g/dl at peak exercise. This correlation remained significant also when several confounding variables were analyzed by multivariate analysis. As an average, each gram of hemoglobin accounts, at peak exercise, for 109 ml/min change in VO(2) which is equivalent to 0.97 ml/min/kg. Therefore, in HF patients anemia treatment should increase VO(2) by 109 ml/min for each g/dl of hemoglobin increase.
The Thyroid Gland in Pregnancy
Authors: Gretajo Northrop
Journal: JAMA (1972)

Information concerning thyroid function and disease during pregnancy is briefly but well assembled in this volume. It provides a rather specific approach to diagnosis and management of the more commonly encountered diseases of the thyroid gland. The monograph is divided into three areas. The first concerns thyroid physiology. The chapter on thyroid function tests perhaps should be amplified. The second part deals with clinical problems related to various degrees of thyroid function, including chapters on hypothyroidism and hyperthyroidism in the mother and the newborn. The third area is a chapter which deals briefly with goiter, thyroiditis, and carcinoma occurring during pregnancy. An omission in this volume is the relatively new field of neuroendocrinology. However, the author discusses some of these relationships and warns against placing patients on low doses of thyroid drugs for treatment of undocumented hypothyroidism. He discusses well the perils to both mother and neonate of this fairly
Ingrowing toenails in infancy.
Authors: F B Bailie, D M Evans
Journal: BMJ (1978)

Contact allergy to clotrimazoleClotrimazole (Canesten; diphenyl-2-chlorophenyl-1-imidazolylmethane) is an effective broad-spectrum antifungal agent that has been used in Great Britain since 1973.In clinical trials only a few patients have been irritated by clotrimazole and no cases of contact allergy have been reported.I describe a patient who developed contact allergic dermatitis to clotrimazole. Case historyA 48-year-old policeman had had perineal and perianal pruritus for many years.In September 1977 he was prescribed Canesten cream, which he used intermittently for the next few months.In December, after applying Canesten cream, he noticed an increase in the pruritus accompanied by an erythematous, oozing rash over his scrotum, upper thighs, and natal cleft.He discontinued the Canesten, and Tri-Adcortyl cream was prescribed.His rash gradually improved.Patch tests were applied for 48 hours using the Finn Chamber method and inspected at 48 and 96 hours.At both times reactions were seen to Canesten cream, 1 % clotrimazole in ethyl methyl ketone, and 1 % ethylene diamine in yellow soft paraffin.Results were negative with Canesten cream base and Tri-Adcortyl cream.
The Medical Library Journal.
Authors: A. Rose
Journal: JAMA (1903)

<h3>To the Editor:</h3> —In the issue for January 31 ofThe Journalthere is an editorial on a<i>Medical Library Journal</i>, as you say, edited by "Doctors Albert Tracy Huntington and John Smart Browne." May I ask you to correct this? Neither of these editors is a doctor. If you will take the pains to read the index heading in the first number of this monstrosity of a journal once more you will convince yourself that these editors furnish conclusive evidence that they are no men of learning, no doctors. It is to be hoped that nobody will quote titles of books from the list given in this<i>Library Journal</i>, because many of these titles are misspelled.
Non-O Group 1<i>Vibrio cholerae</i>Gastroenteritis in the United States
Authors: J. GLENN MORRIS
Journal: Annals of Internal Medicine (1981)

Fourteen sporadic cases of non-O group 1 Vibrio cholerae gastroenteritis were identified through isolates submitted to the Centers for Disease Control in 1979. All the ill persons had diarrhea, 13 had abdominal cramps, 10 had fever, and three had vomiting; in four cases the patients had bloody diarrhea. Five patients had traveled outside the United States before they became ill. All nine domestically acquired cases were in patients who had eaten raw oysters within 72 hours of onset of illness; in a matched case-control study, illness in these patients was strongly associated with eating raw seafood (p < 0.0001). Only one isolate produced heat-labile toxin by a Y-1 adrenal cell assay. All isolates were susceptible to tetracycline, chloramphenicol, kanamycin, and cephalothin.
Pharyngeal lipase and digestion of dietary triglyceride in man.
Authors: M Hamosh, H L Klaeveman, R O Wolf, R O Scow
Journal: Journal of Clinical Investigation (1975)

Lipolytic activity was studied in esophageal and gastric aspirates obtained with a nasogastric tube from 14 healthy adult subjects. Samples were collected from esophagus, first at 30-35 cm and then at 40-45 cm from the nose, as the subject, after drinking 15-30 ml of a cream-milk mixture, swallowed small amounts of water. The samples from stomach were taken last and usually contained a small amount of cream-milk mixture. Lipolytic activity was assayed using chylomicron, milk, and corn oil triglyceride as substrate. Esophageal and gastric samples both contained lipolytic activity which hydrolyzed long-chain triglyceride to diglyceride, monoglyceride, and FFTA, had a pH optimum of 5.4, and was not affected by either had a pH optimum of 5.4, and was not affected by either 0.5 M NaCl or 4 mM sodium taurodexycholate. The activity, expressed as nanomoles of chylomicron triglyceride hydrolyzed per milliter per minute, ranged from 0 to 145 in upper esophageal, 5 to 303 in lower esophageal, and 50 to 357 in gastric samples. Only a trace of lipolytic activity was found at pH 5.4 in saliva collected from the parotid, submandibular, and sublingual glands, thus excluding those tissues as a source of the activity found in esophageal and gastric aspirates. The findings suggest that in man glands in or near the pharynx secrete a lipase that acts in the stomach to hydrolyze long-chain triglyceride to partial glycerides and FFA. It is proposed this reaction is the first step in the digestion of dietary fat and that the amphiphilic lipids formed by lipolysis facilitate the emulsification of triglyceride in the stomach.
Drosophila Sensory Neurons Require Dscam for Dendritic Self-Avoidance and Proper Dendritic Field Organization
Authors: Peter Soba, Sijun Zhu, Kazuo Emoto, Susan Younger, Shun-Jen Yang, Hung-Hsiang Yu, Tzumin Lee, Lily Yeh Jan, Yuh-Nung Jan
Journal: Neuron (2007)
Host Cell Entry by Apicomplexa Parasites Requires Actin Polymerization in the Host Cell
Authors: Virginie Gonzalez, Audrey Combe, Violaine David, Nicholas A. Malmquist, Violaine Delorme, Carole Leroy, Samantha Blazquez, Robert Ménard, Isabelle Tardieux
Journal: Cell Host & Microbe (2009)
Recurrent Gene Amplification and Soft Selective Sweeps during Evolution of Multidrug Resistance in Malaria Parasites
Authors: S. Nair, D. Nash, D. Sudimack, A. Jaidee, M. Barends, A.-C. Uhlemann, S. Krishna, F. Nosten, T. J. C. Anderson
Journal: Molecular Biology and Evolution (2006)

When selection is strong and beneficial alleles have a single origin, local reductions in genetic diversity are expected. However, when beneficial alleles have multiple origins or were segregating in the population prior to a change in selection regime, the impact on genetic diversity may be less clear. We describe an example of such a "soft" selective sweep in the malaria parasite Plasmodium falciparum that involves adaptive genome rearrangements. Amplification in copy number of genome regions containing the pfmdr1 gene on chromosome 5 confer resistance to mefloquine and spread rapidly in the 1990s. Using flanking microsatellite data and real-time polymerase chain reaction determination of copy number, we show that 5–15 independent amplification events have occurred in parasites on the Thailand/Burma border. The amplified genome regions (amplicons) range in size from 14.7 to 49 kb and contain 2–11 genes, with 2–4 copies arranged in tandem. To examine the impact of drug selection on flanking variation, we genotyped 48 microsatellites on chromosome 5 in 326 parasites from a single Thai location. Diversity was reduced in a 170- to 250-kb (10–15 cM) region of chromosomes containing multiple copies of pfmdr1, consistent with hitchhiking resulting from the rapid recent spread of selected chromosomes. However, diversity immediately flanking pfmdr1 is reduced by only 42% on chromosomes bearing multiple amplicons relative to chromosomes carrying a single copy. We highlight 2 features of these results: 1) All amplicon break points occur in monomeric A/T tracts (9–45 bp). Given the abundance of these tracts in P. falciparum, we expect that duplications will occur frequently at multiple genomic locations and have been underestimated as drivers of phenotypic evolution in this pathogen. 2) The signature left by the spread of amplified genome segments is broad, but results in only limited reduction in diversity. If such "soft" sweeps are common in nature, statistical methods based on diversity reduction may be inefficient at detecting evidence for selection in genome-wide marker screens. This may be particularly likely when mutation rate is high, as appears to be the case for gene duplications, and in pathogen populations where effective population sizes are typically very large.
Pelvic Lymph Node Dissection During Robot-assisted Radical Prostatectomy: Efficacy, Limitations, and Complications—A Systematic Review of the Literature
Authors: Guillaume Ploussard, Alberto Briganti, Alexandre de la Taille, Alexander Haese, Axel Heidenreich, Mani Menon, Tullio Sulser, Ashutosh K. Tewari, James A. Eastham
Journal: European Urology (2013)
First cousin marriage can double risk of birth defects, finds study
Authors: K. Chinthapalli
Journal: BMJ (2013)

Children born in marriages between first cousins have double the risk of congenital anomalies, a new UK study has found.1

Researchers followed 13 776 pregnancies in Bradford and found that 6.1% of children born to first cousins had congenital anomalies and that 98% of these children were born to people of Pakistani origin. This compared with a 2.4% risk of congenital anomalies in non-consanguineous marriages in the study (multivariate relative risk 2.2 (95% confidence interval 1.7 to 2.9) and a background risk of 1.7% in the UK population. The researchers found that the risk was unchanged when they controlled for socioeconomic status.

The findings are in keeping with previous research and concerns among paediatricians in Bradford over the number of autosomal recessive disorders …
Platelet hyperaggregability across the coronary bed in response to rapid atrial pacing in patients with stable coronary artery disease.
Authors: J G Diodati, R O Cannon, S E Epstein, A A Quyyumi
Journal: Circulation (1992)

BACKGROUND Platelet aggregation is believed to contribute to the precipitation of acute ischemic syndromes. Because physical activity has been proposed as one possible trigger in converting a patient with chronic coronary artery disease to one with an acute ischemic syndrome, we examined the hypothesis that platelets become activated when coronary blood flow velocities (and thereby shear stress) increase across an atherosclerotic bed. METHODS AND RESULTS During catheterization, 82 patients (36 with left coronary artery disease, 12 with only right coronary artery disease, and 34 with normal coronary arteries) had measurement of whole blood platelet aggregation performed on blood samples obtained simultaneously from the coronary sinus and aorta at rest, 2 minutes after onset of rapid atrial pacing, and 10 minutes after pacing was terminated. There was no arteriovenous difference in platelet aggregation under resting conditions in patients with versus those without coronary artery disease. Atrial pacing in patients with left coronary artery disease (greater than or equal to 50% stenosis in a major epicardial vessel) caused an increase in platelet aggregation in the coronary sinus blood (+64 +/- 9%, p less than 0.01) but not in arterial blood (2 +/- 8% decrease, p = NS). This increase was transient and returned nearly to baseline 10 minutes after termination of pacing. Patients with nonsignificant left coronary artery disease, those with normal coronary arteries, and patients with significant disease only in the right coronary artery (venous drainage not into the coronary sinus) did not show any changes in either the coronary sinus or arterial blood with atrial pacing. CONCLUSIONS There is no evidence of platelet activation across a normal or an atherosclerotic coronary bed at rest. When coronary blood flow increases in the presence of significant (greater than or equal to 50%) narrowing of epicardial coronary arteries, however, platelets are activated and aggregate more easily. This mechanism may play a role in the precipitation of acute ischemic syndromes in patients with coronary artery disease.
RECURRENT OR HABITUAL DISLOCATION OF THE SHOULDER
Authors: M. S. HENDERSON
Journal: JAMA (1918)

Dislocations occur more frequently in the shoulder joint than in any other joint in the body. Reduction is, as a rule, readily accomplished, but if delayed beyond a few hours, is not easy. If deferred for days, it is quite difficult, and a delay of more than a week may mean that all attempts at reduction will fail. If the dislocation is associated with a fracture of the surgical neck of the humerus, unless reduction is accomplished by an open operation, the patient usually comes to a resection of the head of the bone later. Habitual dislocations of the shoulder joint occur in cases in which reduction has been accomplished and the convalescence completed without incident, so that there is no cause for anxiety. The habit of easy dislocation is a sequela that cannot be foretold. A shoulder joint may be said to be subject to habitual or recurrent dislocations
Vulval Pain Society provides information on vulval symptoms
Authors: D. Nunns, D. Hamdy
Journal: BMJ (1998)

EDITOR—Nunneley's Personal View will have struck a chord with women with chronic vulval symptoms.1 Her story is typical of that of the many women with burning, soreness, and itching of the vulval area who fail to get recognition and appropriate treatment. By the time such women reach a knowledgeable specialist their symptoms have often lasted for months or even years without their having even received a diagnosis.2 As Nunneley …