tbuckley/cabot-search huggingface dataset:
Factor IX gene polymorphisms in Indian population
Authors: Madhumita Roy Chowdhury, Madhulika Kabra, P.S.N. Menon
Journal: American Journal of Hematology (2001)

Abstract Hemophilia B is an X‐linked, recessive disorder of hemostasis, caused by a defect in coagulation factor IX. To date, several restriction fragment length polymorphisms (RFLPs) have been identified within the gene for human factor IX. The incidence of these RFLPs differs significantly in different populations. In the present study, we analyzed the heterozygosity frequency and the allele frequency of three common intra‐ and extragenic polymorphic sites of the factor IX gene in Indian population. The main objective was to test the informativeness of two intragenic markers Dde I and Xmn I and one extragenic marker Hha I for carrier detection and prenatal diagnosis. The method used was polymerase chain reaction (PCR) and RFLP, which is economical yet simple to perform. In Indian population Dde I marker showed an informativeness of 69.0% followed by 38.0% for Hha I and 23.0% for Xmn I. The cumulative informativeness of these three markers was found to be 80 to 82%. A comparison of the heterozygosity rates of these three markers with the other ethnic groups showed that Indian population had almost similar pattern with the Caucasians and American blacks but differed significantly from the Orientals including Japanese, Chinese and Malays. Am. J. Hematol. 68:246–248, 2001. © 2001 Wiley‐Liss, Inc.
Erratum: Corrigendum: CDC91L1 (PIG-U) is a newly discovered oncogene in human bladder cancer
Authors: Zhongmin Guo, Jürgen F Linn, Guojun Wu, Sarah L Anzick, Claus F Eisenberger, Sarel Halachmi, Yoram Cohen, Alexey Fomenkov, Mohammad O Hoque, Kenji Okami, Gabriel Steiner, James M Engles, Motonabu Osada, Chulso Moon, Edward Ratovitski, Jeffrey M Trent, Paul S Meltzer, William H Westra, Lambertus A Kiemeney, Mark P Schoenberg, David Sidransky, Barry Trink
Journal: Nature Medicine (2004)
Neuronal connectivity, regional differentiation, and brain damage in humans
Authors: Dahlia W. Zaidel
Journal: Behavioral and Brain Sciences (1999)

When circumscribed brain regions are damaged in humans, highly specific impairments in language, memory, problem solving, and cognition are observed. Neurosurgery such as “split brain” or hemispherectomy, for example, has shown that encompassing regions, the left and right cerebral hemispheres, each control human behavior in unique ways. Observations stretching over 100 years of patients with unilateral focal brain damage have revealed, without the theoretical benefits of “cognitive neuroscience” or “cognitive psychology,” that human behavior is indeed controlled by the brain and its neurons.
BMA says non-therapeutic circumcision needs consent of both parents
Authors: D. Singh
Journal: BMJ (2003)

The BMA has published guidelines designed to offer doctors a safeguard and a model of good practice for male circumcision in babies and children.

The guidelines mainly relate to the ethics of non-therapeutic or “ritual” circumcision. This is carried out for religious reasons or to incorporate a child into a community or simply because some fathers express a preference for their sons to be like them.

The guidelines state that it is the responsibility of the parents to demonstrate that a non-therapeutic circumcision is in the child's best interest. To achieve this, the …
Double-blind comparison of naftifine cream and clotrimazole/betamethasone dipropionate cream in the treatment of tinea pedis
Authors: Edgar B. Smith, Debra L. Breneman, Russell F. Griffith, Adelaide A. Hebert, Janet G. Hickman, J. Michael Maloney, Larry E. Millikan, Virginia I. Sulica, Sydney H. Dromgoole, John Sefton, Ronald E. DeGryse, Frank P. Killey
Journal: Journal of the American Academy of Dermatology (1992)
Left ventricular diastolic collapse. An echocardiographic sign of regional cardiac tamponade.
Authors: K Chuttani, N G Pandian, P K Mohanty, K Rosenfield, S L Schwartz, J E Udelson, J Simonetti, B S Kusay, M E Caldeira
Journal: Circulation (1991)

Cardiac tamponade after cardiac surgical procedures is often associated with hemodynamically significant localized pericardial effusions. The localized collection of pericardial effusion in the postoperative period and the atypical presentation of cardiac tamponade limit the use of conventional clinical and echocardiographic signs usually seen with a circumferential pericardial effusion. Observation of left ventricular diastolic collapse in the echocardiogram of a patient with postoperative regional cardiac tamponade prompted us to explore the frequency of this sign in regional cardiac tamponade.We retrospectively analyzed the echocardiograms of 18 patients with postoperative cardiac tamponade for the following echocardiographic findings: right atrial collapse, right ventricular diastolic collapse, left atrial collapse, and left ventricular diastolic collapse. Three of the 18 patients had circumferential pericardial effusion, and 15 had loculated pericardial effusion; in 10, the effusion was predominantly posterior, and in the other five, it extended laterally or inferiorly. The conventional echocardiographic signs of cardiac tamponade such as right atrial collapse, right ventricular diastolic collapse, and left atrial collapse were present in only 3, 1, and 3 of these 15 patients, respectively, but all exhibited left ventricular diastolic collapse. Increasing pressure within the compartment of a loculated pericardial effusion reaching the limit of pericardial distensibility and consequent transient reversal of transmural left ventricular pressure during diastole are most likely the basis for diastolic collapse of the thick-walled ventricle in a setting of regional cardiac tamponade.We conclude that left ventricular diastolic collapse is a frequent sign of regional cardiac tamponade and could be a useful marker of tamponade in postoperative patients.
Effects of tilting on central hemodynamics and homeostatic mechanisms in cirrhosis
Authors: Søren Møller, Annette Nørgaard, Jens H. Henriksen, Erik Frandsen, Flemming Bendtsen
Journal: Hepatology (2004)

Patients with cirrhosis have a hyperdynamic circulation and an abnormal blood volume distribution with central hypovolemia, an activated sympathetic nervous system (SNS) as well as the renin-angiotensin-aldosterone system (RAAS). As the hyperdynamic circulation in cirrhosis may be present only in the supine patient, we studied the humoral and central hemodynamic responses to changes with posture. Twenty-three patients with alcoholic cirrhosis (Child-Turcotte-Pugh classes A/B/C: 2/13/8) and 14 healthy controls were entered. Measurements of central hemodynamics and activation of SNS and RAAS were taken in the supine position, after 30° head-down tilting, and after 60° passive head-up tilting for a maximum of 20 minutes. After the head-up tilting, the central blood volume (CBV) decreased in both groups, but the decrease was significantly smaller in patients than in controls (−19% vs. −36%, P &lt; .01). Central circulation time increased only in the patients (+30% vs. −1%, P &lt; .01). The absolute increases in circulating norepinephrine and renin after head-up tilting were significantly higher in the patients than in the controls ( P &lt; .05 and P &lt; .01, respectively). In patients with cirrhosis, changes in SNS and RAAS were related to changes in arterial blood pressure, systemic vascular resistance, heart rate, non-CBV, plasma volume, and arterial compliance. In conclusion, cardiovascular and humoral responses to changes in posture are clearly abnormal in patients with cirrhosis. Head-up tilting decreases the CBV less in patients with cirrhosis, and the results suggest a differential regulation of central hemodynamics in patients with cirrhosis. (Hepatology 2004;40:811-819).
Treatment of diabetes insipidus.
Authors: K E Andersson, B Arner
Journal: BMJ (1971)

Tylosis and Oesophageal Carcinoma SIR,-Some new data' on the association be- tween tylosis and squamous celled carcinoma of the oesophagus is consistent with the suggestion,' based on a genetical analysis, that the gene responsible is at a single auto- somal locus.There are resemblances between structure of the oesophageal mucosa (in mammalian species other than man) and the FIG.1.-Human thick skin (sole of foot).C= Stratum corneum, L =Stratumn lucidum, and G='Straturn granulosum.H & E x 115.
469 THE EXCESSIVE CONSUMPTION OF ALCOHOL POST LIVER TRANSPLANTATION (LT) HAS AN IMPACT ON THE LONG TERM SURVIVAL AFTER LT, WHATEVER THE INDICATION FOR TRANSPLANTATION
Authors: S. Faure, T. Mura, A. Herrero, E. Assenat, M. Bismuth, H. Bouyabrine, B. Yung, F. Navarro, S. Jaber, D. Larrey, G.-P. Pageaux
Journal: Journal of Hepatology (2010)
Selection costs of amino acid substitutions in ColE1 and ColIa gene clusters harbored by Escherichia coli
Authors: C. L. Craig, R. S. Weber
Journal: Molecular Biology and Evolution (1998)

The theory of evolution by natural selection asserts that the immense molecular variation retained by organisms is potentially important to their ability to adapt (Lewontin 1974), while the theory of neutral evolution asserts that most of this variation has no selective value (Kimura 1968). Recent statistical analyses comparing synonymous and nonsynonymous substitutions in the coding and noncoding regions of protein genes (Kreitman and Hudson 1991; McDonald and Kreitman 1991) indicate that even in the absence of function, there is a selective bias against some amino acids yet retention of others. Because a selective mechanism has not been identified, however, these results are difficult to interpret. Here we quantify two independent and alternative selective factors, bioenergetic costs and biosynthetic complexity, that may account for the retention of apparently ‘‘neutral’’ amino acids, particularly when they are found in highly expressed proteins. The bioenergetic cost of an amino acid can be equated with the energy invested or generated in its synthesis plus the similarly calculated costs of the amino acid’s starting metabolites. For a given family of proteins, the energetic costs of amino acid assembly include energy for activation of each molecule and incorporation into a protein, energy for mRNA synthesis, energy for proofreading at the synthetase and ribosome level, and energy for assembly and modification reactions (Neidhardt, Ingraham, and Schaechter 1990, pp. 94–95). We have assumed that these costs are similar for all amino acids. Therefore, the primary difference in the energetic costs of a family of proteins must be equal to the synthetic costs of its component amino acids. Through the central metabolic pathways, including the Embden-Meyerhof pathway, which converts glucose 6-phosphate to pyruvate, the tricarboxylic acid cycle (TCA), which oxidizes acetyl CoA2 to CO2, and the pentose phosphate pathway, which oxidizes glucose 6-phosphate to CO2, organisms make all of the energy needed for biological work. In addition to their bioenergetic function, however, the intermediate metabolites of these three pathways provide the molecules from which all amino acids are produced. Energy in the form of adenosine triphosphate (ATP) is lost whenever a metabolite is diverted from the oxidation of glucose to the synthesis of an amino acid. Therefore, ATP is the common currency through which the bioenergetic costs of amino
Let's hope doctor is misquoted
Authors: S. Wessely
Journal: BMJ (2010)

I hope that the doctor looking after the psychological health of the miners was misquoted or mistranslated, but if he did say, “Now the men are starting to demand certain things, and we restrict others. We are measuring each other’s strength” and that the miners would be rewarded if they cooperated but “If not, okay, you don’t want to …
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
Authors: B McInnes, M Potier, N Wakamatsu, S B Melancon, M H Klavins, S Tsuji, D J Mahuran
Journal: Journal of Clinical Investigation (1992)

Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase A activity in his cultured fibroblasts was less than 3% of normal activity, a level observed in juvenile onset patients. Northern and Western blot analyses confirmed a similar low level of beta subunit-mRNA and mature beta-protein, respectively. Two mutations of the HEXB gene were identified in this patient, a partial 5' gene deletion (a null allele), and a C----T transition 8 nucleotides downstream from the intron 10/exon 11 junction affecting the splicing of the beta subunit-mRNA. In their homozygous forms, the 5' deletion has been previously shown to result in a severe infantile phenotype, and the C----T transition in a juvenile phenotype. The genotype and the low level of residual hexosaminidase A activity would be expected to produce a juvenile Sandhoff phenotype in this patient, as well as in four of his six clinically normal siblings. The biochemical basis of his mild phenotype is uncertain, but may result from genetic variations in the RNA splicing machinery.
A Very Irregular "Regular."
Authors: Albert L. Gihon
Journal: JAMA (1899)

New York City, April 3, 1899. <h3>To the Editor:</h3> —The following letter speaks for itself. I violate no confidence in making it public. It was not addressed to me, nor indeed, except on the envelope, which I did not see, to any one else. It was shown to me as having been received by a government official, and was circulated on the authority of its writer—a "regular" physician of long standing: — —, November, 1898. <h3>My Dear Doctor:</h3> —Hoping and believing that you are alive and well, and not doubting that, for old acquaintance sake, you will entertain my message, I will speak briefly and without apology. I was pained to read of the death of Geo. E. Waring, and all the more because I have the fullest assurances that his death could have been prevented. And so of thousands who have died, or will have died, in the new
Favorable Effects of Early Insulin Secretion by Nateglinide on Postprandial Hyperlipidemia in Patients With Type 2 Diabetes
Authors: Masumi Ai, Akira Tanaka, Kyoko Ogita, Kentaro Shimokado
Journal: Diabetes Care (2006)

GAD65-reactive T-cells have been postulated to recognize the peptide derived by coxsackie B4 virus, leading to autoimmune type 1 diabetes (4).Furthermore, sequence homology between GAD65 and cytomegalovirus might participate in the onset of type 1 diabetes and stiff-man syndrome (5).Interestingly, HHV-6 is closely related to cytomegalovirus genomically and antigenically, and GAD65-reactive Tcells also recognize an epitope derived by , suggesting that reactivation of HHV-6 might contribute to the onset of autoimmune type 1 diabetes by the molecular mimicry.
Half of ambulance trusts have no record of terminally ill patients' end of life wishes
Authors: G. Iacobucci
Journal: BMJ (2014)

Half of ambulance trusts in England and Wales do not record patients’ decisions on the end of life care treatment they wish to receive, a new report has found.

The report, from the charity Compassion in Dying,1 found “considerable variation” in recording the treatment preferences of patients nearing the end of life, such as “do not attempt resuscitation” decisions. It also found that only four trusts had formal systems in place for patients not nearing the end of life. The …
Carpal tunnel syndrome: evaluation of a new method of assessing median nerve conduction at the wrist.
Authors: C A Dunne, P W Thompson, J Cole, J Dunning, C N Martyn, D Coggon, C Cooper
Journal: Annals of the Rheumatic Diseases (1996)

To compare median nerve conduction velocity measured using a new, portable electroneurometer with measurements made using conventional hospital nerve conduction apparatus.Twenty five patients were studied who were consecutively referred to a hospital neurophysiology department with a clinical diagnosis of carpal tunnel syndrome. Sensory and motor latencies for the median nerve at the wrist were measured bilaterally using the portable electroneurometer and a Medilec MS 92 hospital apparatus operated by a trained technician.There was strong agreement between motor latency values obtained by the two techniques (r = 0.89, p < 0.001; mean difference -0.03 ms, limits of agreement -0.33 to 0.27 ms). Sensory latencies were less easy to detect with the electroneurometer, and correlated less well with the hospital apparatus (r = 0.78, p < 0.001; mean difference -0.16 ms, limits of agreement -0.50 to 0.18 ms).The portable electroneurometer provides a convenient, rapid, and inexpensive means of assessing median nerve conduction velocity at the wrist. Measurements of motor latency obtained with this new instrument agree more strongly with those made by conventional apparatus than do measurements of sensory latency. Although the utility of the instrument in clinical practice will be limited, it provides a helpful tool in epidemiological studies of carpal tunnel syndrome.
MEDICAL LAW IN VIRGINIA.
Authors: Albert L. Gihon
Journal: JAMA (1884)

<h3>Editor Journal of the American Medical Association.</h3><h3>Sir:</h3> —That the members of the Association may be able to compare the several State laws for the regulation of the practice of medicine, I append a copy of the act which has recently passed the Legislature of the State of Virginia, for which I am indebted to Dr. Wm. C. Dabney, chairman of the committee of the Medical Society of Virginia, for whose active efforts in accomplishing this step in the right direction the profession is under obligations. The necessity for such a law is manifest, since up to the time of its enactment there was "no law whatever in Virginia with respect to the qualifications of persons offering themselves as practitioners of medicine. It was<i>not even necessary that the applicant for practice should be able to read or wtite</i>. The usual effort was made to exempt from examination all persons
46. Phase I/II Study of Adenoviral Vector Delivery of HSV-tk Gene and the Intravenous Administration of Ganciclovir in Men with Local Recurrence of Prostate Cancer after Hormonal Therapy
Authors: Yasutomo Nasu, Haruki Kaku, Shin Ebara, Takashi Saika, Hiromi Kumon, Timothy C. Thompson
Journal: Molecular Therapy (2006)

Background: In previous studies, the efficacy and safety of adenovirus-mediated herpes simplex virus - thymidine kinase gene (Adv.RSV-tk) transduction and ganciclovir(GCV) therapy in an orthotopic mouse model of prostate cancer were demonstrated. (Human Gene Therapy 7:515, 1996.Int.J. Cancer 70:183,1997) These preclinical studies resulted in the initiation of clinical trials using this approach in USA (Baylor College of Medicine:BCM) for those patients who have local recurrence after definitive radiation therapy. Safety and positive clinical response were shown in this clinical study (Human Gene Therapy 12:1955, 2001). In Japan, phaseI/IIclinical study of prostate cancer gene therapy using similar methods was conducted as an international joint research with BCM; this study was approved by the Japanese government as the first prostate cancer gene therapy and the first so-called suicide gene therapy. Methods: Major inclusion criteria of the study are local recurrence of prostate cancer after definitive hormonal therapy and no evidence of metastasis. Adv.RSV-tk is injected directly into the prostate under ultrasound guidance with escalating dose from 109 to 1010plaque-forming unit (PFU), followed by intravenous administration of GCV for 14 days. Blood, urine and tissue specimens were obtained and were subjected to the evaluation for PCR analysis for the distribution of Adv.RSV-tk sequence and gene expression. Results:Eight patients received nine intraprostatic injections of Adv.RSV-tk followed by intravenous GCV. No adverse events related to the vector injection or GCV administrations were observed in all eight patients. With regard to clinical response evaluated by PSA (prostate specific antigen) levels, significant PSA declines were observed in 5 patients (6 injections). One patient showed repeated clinical response after multiple injections. Significant prolongation of the mean serum PSA-doubling time (PSADT) from 3.4 to 9.1 months (p = 0.034) was observed and in 6 of the injected patients (66.7%) there was a mean PSA reduction (PSAR) of 39.3%. It took a mean of 23.3 weeks for the PSA to return to the initial PSA (TR-PSA) value. A repeated cycle of gene therapy for one patient showed PSADT 0.3 to 4.8 months following the first and 4.9 to 12.4 months following the second injection and resulted in increased PSAR from 22.8% to 78.1% and TR-PSA from 28 weeks to over 54weeks. Conclusion:Intraprostatic injections of Adv.RSV-tk followed by GCV to local recurrence of prostate cancer after definitive hormonal therapy showed comparable safety profile and clinical response with the clinical trial done for local recurrence of prostate cancer after definitive radiation therapy. This is the first clinical trial of HSV-tk gene therapy for prostate cancer which showed clinical response for hormone refractory prostate cancer.
Rendering food injurious to health
Authors: S. N. Brock
Journal: BMJ (2010)

Hypercholesterolemia (HC) may trigger early renal injury, partly by impairing the function or the structure of renal microvessels (MV). The endothelin (ET) system is upregulated in HC and can have an impact on the renal microcirculation by regulating MV tone, growth factors, and remodeling. It was hypothesized that ET-A blockade would protect the HC kidney by improving the function and attenuating the damage of intrarenal MV. Single-kidney function and hemodynamic responses to endothelium-dependent challenge were assessed in pigs after 12 wk of experimental HC, HC and chronic supplementation with the ET receptor A blocker ABT-627 (HC+ET-A, 0.75 mg/kg per d), and normal controls. Renal MV architecture then was studied <i>ex vivo</i> using three-dimensional microcomputed tomography imaging, and growth factors and remodeling pathways were explored in renal tissue. The HC kidney showed increased MV density compared with normal (77.68 ± 5.1 <i>versus</i> 62.9 ± 4.8 vessels/cm<sup>2</sup>; <i>P</i> = 0.04) but blunted endothelial function. Chronic ET-A blockade in HC upregulated renal vascular growth factors, further increased renal MV density (139.9 ± 8.4 vessels/cm<sup>2</sup>; <i>P</i> = 0.001 <i>versus</i> normal and HC), and decreased renal tissue and MV remodeling. Furthermore, ET-A blockade in HC decreased MV tortuosity and improved MV endothelial function, suggesting accelerated stabilization and maturation of neo-vessels. Modulation of renal MV architecture and function in HC is mediated partly by the endogenous ET system. Notably, ET-A blockade enhanced the proliferation and facilitated the maturation of renal MV in the HC kidney and improved renal MV remodeling and function. This study suggests novel renoprotective effects of ET-A blockers and supports further exploration of strategies that target the ET pathway in HC and atherosclerosis.
Retroperitoneal Fibrosis in Patients Taking Methysergide
Authors: David C. Utz
Journal: JAMA (1965)

Retroperitoneal fibrosis has developed in three patients who were taking methysergide maleate (Sansert). This experience does not interdict use of the drug, but such potential mechanical involvement of ureteral function would make the use of methysergide unattractive in the presence of known renal disease. After a year of receiving methysergide, the patient should discontinue taking it for at least three months and undergo suitable tests. Both patient and doctor should be alert for any evidence of retroperitoneal fibrosis.