tbuckley/cabot-search huggingface dataset:
Mutations in the factor XI gene
Authors: Anwar Alhaq, Michael Mitchell, Geoffrey Savidge, Mark Smith
Journal: American Journal of Hematology (2000)

To the Editor: Mutations in the factor XI gene are responsible for a variable bleeding phenotype which correlates poorly with levels of circulating FXI product.We read with interest and concern an article published recently describing a novel nonsense mutation [1].The authors state in their discussion that "eighteen causative mutations of the congenital FXI deficiency have been reported: three nonsense mutations, ten missense mutations, and five splicing site abnormalities.Three nonsense mutations are located in exons 5 and 7, which truncate the proteins in the middle of the second and third apple domains, respectively".To our knowledge, prior to the publication of their paper, only two nonsense mutations had been described for the FXI gene, both in exon 5 [2,3].No nonsense mutation has been described in exon 7. Also, only three splicing site abnormalities have been described, not five [2,4] (Table I).Additionally, an important omission was the 14-bp type IV deletion described in Askenazi Jews [5].
Transoral Obesity Surgery: Endoluminal Gastroplasty with an Endoscopic Suture Device
Authors: B. Hu, S. Chung, L. Sun, K. Kawashima, T. Yamamoto, P. Cotton, C. Gostout, R. Hawes, A. Kalloo, S. Kantsevoy, P. Pasricha
Journal: Endoscopy (2005)

Background and Study Aims: Surgical creation of a small gastric pouch with a restricted outlet is a well-established option for the treatment of morbid obesity. This report describes initial experience with endoscopic transoral stomach partition using a newly designed suturing apparatus. Materials and Methods: A fresh porcine stomach was placed in the Erlangen model. A prototype suture device, incorporating a curved needle and an intracorporeal tightening mechanism, was used in this procedure. A long fishing line was first introduced into the stomach, with the two ends left outside. The suturing device, premounted outside a standard gastroscope, was inserted into the stomach and delivered several stitches attaching the fishing line to both the anterior and posterior walls along the line for the stomach to be partitioned. Five throws of half-hitches were tied onto the fishing line extracorporeally and separately pushed into place, creating a gastric pouch just below the esophagogastric junction. A flexible sheath of 8 cm long was then put on one side of the fishing line and pushed into the stomach. Additional extracorporeal knots were tied on the fishing line, forming a restrictive ring at the outlet of the pouch. The ring was then anchored to the stomach wall with similar endosutures. Results: The proximal gastric pouch, with an estimated volume of approximately 100 ml, was successfully created with a restrictive band at its outlet. All of the stitches were securely sutured, with consistent penetration of the muscular layer of the stomach wall. Conclusions: In a bench model, it is technically possible to accomplish transoral gastroplasty endoscopically with an intraluminal suturing device. Further live animal studies will be needed in order to confirm the efficacy and safety of this procedure before clinical application.
Paying for health services.
Authors: C. Ham
Journal: BMJ (1992)

Because blood pressure may fall precipitately early in treat- converting enzyme inhibition on renal function in patients with diabetic nephropathy.BMJ 1986;293:471-4.ment, starting with a small dose is advisable.The glomerular 4 Hommell E, Parving H-H, Mathiesen E, Edsberg B, Nielsen MD, Giese J. Effect of captopril on filtration rate may fall acutely during the first weeks and kidney function in insulin-dependent diabetic patients with nephropathy.
Midregional Pro-Adrenomedullin as a Predictor for Therapeutic Response to Midodrine Hydrochloride in Children With Postural Orthostatic Tachycardia Syndrome
Authors: Fengwen Zhang, Xueying Li, Todd Ochs, Li Chen, Ying Liao, Chaoshu Tang, Hongfang Jin, Junbao Du
Journal: Journal of the American College of Cardiology (2012)
Capsaicin cough sensitivity decreases with successful treatment of chronic cough.
Authors: F O'Connell, V E Thomas, N B Pride, R W Fuller
Journal: American Journal of Respiratory and Critical Care Medicine (1994)

To assess the role of enhanced cough sensitivity in the pathogenesis of cough, we measured cough severity on a visual analogue scale (VAS) and capsaicin cough sensitivity (the concentration required to elicit two [C2] and five [C5] coughs) in 87 consecutive patients referred with chronic cough. Measurements were repeated after complete investigation and treatment, when patients were entered into one of four study groups: (1) treatment success (primary cause of cough successfully treated with elimination of the cough, n = 48); (2) primary treatment failure (treatment of potential primary cause of cough unsuccessful, n = 12); (3) cough treatment failure subgroup A (potential primary cause of cough identified and successfully treated but no improvement in cough, n = 8); and (4) cough treatment failure subgroup B (no potential primary cause of cough identified, n = 19). All patients in groups 3 and 4 were nonsmokers, had normal chest radiography and negative histamine challenge test, and failed to respond to intensive empirical treatment for rhinitis and gastroesophageal reflux. The VAS cough severity was lower and log C2 and C5 higher after treatment compared with initial values in the treatment success group but not in the other three groups. Enhanced sensitivity of airway nerves that mediate cough is important in the pathogenesis of nonproductive cough, and successful treatment is associated with a reduction in cough sensitivity. While enhanced sensitivity of airway nerves is usually present in patients with identifiable causes of chronic nonproductive cough, it is also found in other patients in whom the cause of cough is unknown.
Secretin-Stimulated Serum Gastrin Levels in Hyperparathyroid Patients from Families with Multiple Endocrine Adenomatosis Type I
Authors: CORNELlS B. LAMERS
Journal: Annals of Internal Medicine (1977)

Twenty-three patients with hyperparathyroidism from six families with the multiple endocrine adenomatosis (MEA) I-syndrome were tested by secretin provocation. In nine cases this led to increases in serum gastrin ranging from 298 to 13 300 pg/ml, whereas the maximum rise in gastrin in the other 14 patients was 32 pg/ml. In all nine patients with marked gastrin responses to secretin, the Zollinger-Ellison syndrome was diagnosed by gastric acid hypersecretion and large increases in gastrin after calcium administration. Six of these nine patients had, at most, minor postprandial rises in gastin and two had demonstrable tumors. In 34 normal subjects, 23 nonaffected members of families with MEA I-syndrome, and 42 patients with various diseases the maximum gastrin response to secretin was 21 pg/ml. We conclude that secretin provocation is helpful in the diagnosis of the Zollinger-Ellison syndrome, especially when basal serum gastrin levels are only slightly elevated.
710 AZATHIOPRINE PRODUCES OXIDIZATION OF 53 KDA AND 67 KDA PROTEINS AND INDUCES MITOCHONDRIAL DEPENDENT APOPTOSIS IN GSH DEPLETED HEPG2 CELLS
Authors: B. Hernández-Breijo, S. Ramírez-Rubio, I.D. Román, M.D. Fernández-Moreno, V. Sánchez-Alonso, E.P. Cuevas, J.P. Gisbert, L.G. Guijarro
Journal: Journal of Hepatology (2009)
Trophic effect of norepinephrine on the rat portal vein in organ culture.
Authors: P W Abel, A Trapani, O Aprigliano, K Hermsmeyer
Journal: Circulation Research (1980)

Rat portal veins were maintained in organ culture to study the development of characteristic denervation changes and a possible trophic effect of the neurotransmitter norepinephrine (NE). Vessels maintained in organ culture for 2 days showed supersensitivity to NE and Ba2+, a more rapid rate of relaxation from a Ba2+ contracture, and partial depolarization of the myovascular cells. All of these changes except the quicker relaxation from Ba2+ contracture could be prevented by incubating the preparations in a NE-containing medium. This evidence suggests that functional changes in vascular muscle cells are caused by the removal of a tropic influence of NE, but can be prevented by NE replacement. However, the failure of NE in the culture media to prevent the increased rate of relaxation from Ba2+ contracture found after 2 days in organ culture suggests that NE is not the only trophic influence acting on the portal vein. In addition, incubation of veins in a NE-containing medium produced a marked subsensitivity to the contractile effects of NE, but not BA2+, and thus possible desensitization of noradrenergic receptors. The data thus support a trophic role for NE in the rat portal vein.
MER/29 and Loss of Hair-Reply
Authors: Carl A. Bunde
Journal: JAMA (1961)

<h3>To the Editor:—</h3> This is hair loss of a more severe degree than has previously been reported, but lesser hair thinning has been reported in the<i>Proceedings of the Mayo Clinic</i>for April 26, 1961. Doses in these patients were higher than recommended, and that possibly accounts for the high incidence; 7 patients were reported. Several times during oral presentation of research on MER/29 or during discussion of these papers, occasional hair loss has been mentioned. The usual experience has been regrowth when the drug was discontinued. The new literature and labeling for MER/29 state, "Isolated reports have been received of nausea, vomiting, temporary vaginal bleeding, dermatitis, and thinning of the hair."
Necessity for Surgical Revision of Defibrillator Leads Implanted Long-Term
Authors: Jens Eckstein, Michael T. Koller, Markus Zabel, Dietrich Kalusche, Beat A. Schaer, Stefan Osswald, Christian Sticherling
Journal: Circulation (2008)

Defibrillator lead malfunction is a potential long-term complication in patients with an implantable cardioverter-defibrillator (ICD). The aim of this study was to determine the incidence and causes of lead malfunction necessitating surgical revision and to evaluate 2 approaches to treat lead malfunction.We included 1317 consecutive patients with an ICD implanted at 3 European centers between 1993 and 2004. The types and causes of lead malfunction were recorded. If the integrity of the high-voltage part of the lead could be ascertained, an additional pace/sense lead was implanted. Otherwise, the patients received a new ICD lead. Of the 1317 patients, 38 experienced lead malfunction requiring surgical revision and 315 died during a median follow-up of 6.4 years. At 5 years, the cumulative incidence was 2.5% (95% confidence interval, 1.5 to 3.6). Lead malfunction resulted in inappropriate ICD therapies in 76% of the cases. Implantation of a pace/sense lead was feasible in 63%. Both lead revision strategies were similar with regard to lead malfunction recurrence (P=0.8). However, the cumulative incidence of recurrence was high (20% at 5 years; 95% confidence interval, 1.7 to 37.7).ICD lead malfunction necessitating surgical revision becomes a clinically relevant problem in 2.5% of ICD recipients within 5 years. In selected cases, simple implantation of an additional pace/sense lead is feasible. Regardless of the chosen approach, the incidence of recurrent ICD lead-related problems after lead revision is 8-fold higher in this population.
The Effect of Nicotinic Acid on the Cerebral Circulation, with Observations on Extracerebral Contamination of Cerebral Venous Blood in the Nitrous Oxide Procedure for Cerebral Blood Flow
Authors: PERITZ SCHEINBERG
Journal: Circulation (1950)

Measurement of cerebral blood flow by the nitrous oxide method before and during intravenous administration of nicotinic acid indicates that cerebral vessels do not respond to this drug. Evidence that contamination of cerebral by extracerebral blood occurs in about 20 per cent of subjects is adduced from the effects of nicotinic acid on the measured cerebral blood flows; studies making use of the intravascular catheter technic to sample internal jugular blood tend to confirm this hypothesis.
Congestive Heart Failure—Relief by Renal Dialysis
Authors: William M. Lemmon
Journal: JAMA (1960)

Initially correctible heart disease frequently ends in intractable congestive heart failure. This outcome can be prevented in many patients by employing various available modalities of treatment followed by corrective heart surgery. Such a "double-barrelled attack" is made possible by the application of artificial renal dialysis before the heart surgery. In the case presented cardiac catheterization was also necessary. The report illustrates the application of these various coordinated diagnostic and therapeutic measures in a patient admitted with the diagnosis of mitral stenosis. Special studies revealed a patent ductus arteriosus, divided and sutured successfully.
Inhibition of the Na+/H+ exchanger attenuates the deterioration of ventricular function during pacing-induced heart failure in rabbits
Authors: S AKER
Journal: Cardiovascular Research (2004)

Aims: Inhibition of the Na+/H+-exchanger (NHE) preserves myocardial morphology and function in rat and mouse models of hypertrophy and failure. The mechanism(s) involved in such cardioprotective effects remain(s) unclear, but might involve blockade of increased protein kinase activity as observed in untreated hearts. Methods and results: We investigated the functional, morphological and biochemical consequences of NHE-inhibition with BIIB722 in rabbits with pacing-induced heart failure (HF). In sham rabbits treated with placebo (n=9) or BIIB722 (30 mg/kg/day po, n=9), LV end-diastolic diameter (LVEDD) and systolic fractional shortening (FS, %) remained unchanged. In HF rabbits (n=9), LVEDD increased and FS decreased from 31.5±1.4 to 8.1±0.9 (p<0.05) at 3 weeks of LV pacing (400 bpm). Apoptosis, fibrosis and myocyte cross-sectional area as well as p38MAPK phosphorylation and iNOS protein expression were significantly increased in HF compared to sham rabbits. The activity of the 90 kDa NHE-kinase was greater in HF than in sham rabbits. In HF rabbits receiving BIIB722 prior to (18.1±2.2, n=9) or following 1 week (15.5±1.6, n=7) of pacing, FS at 3 weeks was better preserved than in untreated HF rabbits (p<0.05). Apoptosis, fibrosis, myocyte cross-sectional area, p38MAPK phosphorylation and iNOS protein expression were significantly reduced in HF rabbits receiving BIIB722. Conclusion: NHE-inhibition attenuates the functional, morphological and biochemical derangements of pacing-induced HF in rabbits.
Ascorbic Acid and Uricosuria
Authors: J. L. DEL ARBOL
Journal: Annals of Internal Medicine (1976)

Comments1 December 1976Ascorbic Acid and UricosuriaJ. L. DEL ARBOL, M.D.J. L. DEL ARBOL, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-85-6-829_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: I read with interest the recent paper by Stein, Hasan, and Fox, "Ascorbic Acid-Induced Uricosuria" (Ann Intern Med 84:385-388, 1976).In 1963 we published a paper "Influencia de la Vitamina C Sobre la Excrecion Del Acido Urico" [Influence of Vitamin C on Uric Acid Excretion] (Rev Clin Esp89:101, 1963), in which we reported that a 0.5 g/day dose of vitamin C led to a significant increase of uric acid excretion in five of six cases studied by us. Thus we were surprised to find in the paper by Stein and colleagues the statement that single doses... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Acera Darro 92 Granada, Spain PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byHypourikämie 1 December 1976Volume 85, Issue 6Page: 829-829KeywordsExcretionUric acidVitamin C ePublished: 1 December 2008 Issue Published: 1 December 1976 PDF downloadLoading ...
Anti‐inflammatory drugs do not alleviate bronchial hyperreactivity in Sjögren's syndrome
Authors: G. Stålenheim, B. Gudbjörnsson
Journal: Allergy (1997)

Bronchial hyperreactivity (BHR) is found in Sjögren's syndrome, as in a number of other conditions such as asthma. BHR associated with asthma can be effectively treated with corticosteroids or sodium cromoglycate. We treated 19 Sjögren's syndrome patients with BHR with inhaled budesonide and inhaled cromoglycate for 6 weeks each. None of the treatments had any significant effect on symptoms of hyperreactivity or lung function. There was no effect on BHR measured as methacholine reactivity. Primary Sjögren's syndrome is a disease with inflammation not only in the salivary and lacrimal glands but also in the pulmonary alveoli and the bronchi. The main inflammatory cell is the lymphocyte, whereas, in the bronchi in asthma, the eosinophil granulocyte is the characteristic inflammatory cell. The cause of the discrepancy with regard to treatability of BHR in asthma and in Sjögren's syndrome is not known. Possibly not all BHR is caused by inflammation. There is not a perfect correlation between inflammation and hyperreactivity even in asthma. Even if the bronchial inflammation and the asthma symptoms are easy to treat with anti‐inflammatory medicines, a considerable component of BHR usually still remains, as measured with methacholine or histamine.
Biphasic anaphylactic reactions: occurrence and mortality
Authors: M. Rohacek, H. Edenhofer, A. Bircher, R. Bingisser
Journal: Allergy (2014)

Monitoring after complete resolution of anaphylactic reactions is recommended. The aim of this study was to define the occurrence of biphasic - and clinically important biphasic - anaphylactic reactions, the number of transfers to intensive care units (ICU) because of anaphylaxis, and the number of deaths within 10 days of presentation to the emergency department (ED).Clinical records of patients visiting the ED of a tertiary care hospital were analysed retrospectively. Hospital databases, direct contact with patients and caregivers, and the Internet were used to obtain mortality rates.Of 259 557 ED presentations from February 2001 through to August 2013, 1334 (0.51%) episodes of allergic reactions were detected, and 532 (0.20%) episodes in 495 patients fulfilled the definition of anaphylaxis. In 227 (44.8%) episodes, the length of hospital stay was ≥8 h (median 22 h, IQR 16-24). There were 507 uniphasic and 25 (4.5%) biphasic anaphylactic reactions. Twelve (2.3%) were clinically important, including 2 (0.36%) that occurred during hospital stay, one of whom (0.19%) was transferred to ICU for shock. No risk factors for biphasic reactions could be found. Eight patients were lost to follow-up. There were no deaths during the 10-day follow-up.Biphasic anaphylactic reactions, especially clinically important ones, occurred rarely, and no mortality was found, whether the monitoring was for ≥8 h or for <8 h. Our study could motivate physicians to consider discharging patients after complete resolution of an anaphylactic reaction and to dispense with prolonged monitoring.
On Two Cases of Severe Injury to the Eye
Authors: W. J. Cant
Journal: BMJ (1883)

ordinary spinal instruments, with two lateral, and (in cases of Pott's dfsease) two posterior upright bars of steel, to allow space between them for the spinous processes, and jointed for extension; to these are rivetted above two thin pieces of truss-spring about three inches apart, encircling the body, hinged anteriorly six inches from the centre, and fastening in front with a small spring button at intervals of a quarter of an inch.To these lateral hoops is attached, by rivets, a band of India-rubber, graduating from half a line in thickness above to three-quarters of an inch below, as seen in the engraving, the whole being padded with washleather or other soft material, and perforated for lightness (in upper dorsal disease, a large perforation can be made corresponding to the prominent vertebra).This instrument has been made, under my direction, by Messrs. Mappin and Co., of New Street, Birmingham: and in the one case for which I have applied it I have been perfectly satisfied with the result obtained.It allows fairly free movement of the body below the point at which it grasps the thorax, and in no way interferes with the respiration.I may add that, since reading Dr.Roberts's paper, I have directed Messrs. Mappin to make a similar instrument, with a spiral spring placed in a socket in each of the uprights for the reception of the upper part of the instrument in lieu of the screw-joints, and which I have reason to hope will still
Antihypertensive therapy upregulates renin and (pro)renin receptor in the clipped kidney of Goldblatt hypertensive rats
Authors: C. Krebs, I. Hamming, S. Sadaghiani, O.M. Steinmetz, C. Meyer-Schwesinger, S. Fehr, R.A.K. Stahl, I.M. Garrelds, A.H.J. Danser, H. van Goor, A. Contrepas, G. Nguyen, U. Wenzel
Journal: Kidney International (2007)
Achilles tendon overuse injuries: risk factors and biomechanics
Authors: Wilfried Alt, Claudia Reule, Harald Hochwald
Journal: British Journal of Sports Medicine (2011)

Lecture 16 Introduction Many studies have been published concerning overuse and acute injuries of the lower extremity with respect to individual risk factors.1 Based on the studies by Isman and Inman2 it has been speculated that inclination and deviation of subtalar joint axes (STA) could be used to estimate the risk to chronic or acute injury. In this novel approach a method has been used to determine a set of parameters, describing the axes of rear foot movement with respect to the tibia. The aim of the study was to measure STA of runners with and without chronic symptoms of Achilles tendon (AT). Methods The Zebris motion analysis system has been adapted for STA estimations. By postulating a pure rotational movement arround the STA the system could be reduced to only one ultrasound marker which was fixed rigid to the rear foot complex by a special mountig device. The ankle has been moved to maxium dorsiflexion. Then rearfoot has been moved from inversion to eversion six times. A set of six finite axes between the end positions was calculated in real time and then averaged in order to minimise errors from data capturing. A total of 614 axes were calculated from 307 high level runners. Results and discussion Data of this study revealed an average inclination of 42° and an average deviation of 11° from 614 ankles. Significant differences have been found between deviation angles from ankles with AT problems (18° ± 23°) compared to those without AT problems (10° ± 23°). Compared to data of Isman and Inman2 (23° ± 11°) it seems that the average deviation of the STA is smaller and therefore more parallel to the longitudinal axis of the foot, which is also in line with the findings of Lewis et al 3 (18° ± 10°). It has been speculated that AT problems might be related to asymmetrical loading during running and this is supported by the findings of this study. However, the range of data and SDs are actually higher than published in previous studies. Further investigations are necessary to shed light on anatomical factors and other reasons for AT problems in runners. Conclusions This method can be used to estimate a functional joint axis which is closely related to STA orientation. This might be useful, especially to investigate large sample sizes in order to detect individual risk factors to chronic AT overuse in running.