tbuckley/cabot-search huggingface dataset:
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet
Authors: Ziv Ben-Ari, Adam Dalal, Ady Morry, Silvio Pitlik, Pierre Zinger, Jonathan Cohen, Ittai Fattal, Ronit Galili-Mosberg, Debora Tessler, Ruth Gershoni Baruch, Jean-Marc Nuoffer, Carlo R. Largiader, Hanna Mandel
Journal: Journal of Hepatology (2009)

Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine transcarbamylase (OTC) deficiency. The hyperammonemic encephalopathy was unmasked by a high-protein Atkins diet.Genetic analysis of the patient's family, 89 unrelated Ashkenazi Jewish and 50 unrelated Europeans subjects was performed using polymerase chain reaction amplification and DNA sequencing of the OTC gene.Treatment with hemodialysis, provision of adequate calories to prevent catabolism, and protein elimination for 24h followed by protein restriction and ammonia scavenging medications effectively lowered the patient's plasma ammonia level and resulted in full recovery. Genetic analysis of the OTC gene revealed a novel hemizygous missense mutation in exon 5 (c.477T>G), leading to an isoleucine-to-methionine substitution in codon 159 (Ile159Met). Further genetic analysis of the patient's family yielded the mutation in many of them, although findings were negative in 89 unrelated Ashkenazi Jewish and 50 unrelated Europeans subjects.This is the first reported case of an adult urea-cycle defect unmasked by the Atkins diet. Measurements of serum ammonia level must be part of the basic work-up in all patients presenting with encephalopathy of unknown origin even in the absence of liver dysfunction. Awareness of this important association can contribute to prompt diagnosis and life-saving treatment. Correct diagnosis is also important to prevent future recurrences and to provide genetic counselling for family members.
The effect of atrial dilatation on the genesis of atrial arrhythmias
Authors: F SOLTI, T VECSEY, V KEKESI, A JUHASZ-NAGY
Journal: Cardiovascular Research (1989)

Journal Article The effect of atrial dilatation on the genesis of atrial arrhythmias Get access F SOLTI, F SOLTI From the Cardiovascular Surgical Clinic, Budapest, Hungary Address for correspondence and reprints: Dr Francis Solti, Cardiovascular Surgical Clinic, 1122 Budapest, Városmajor Str. 68, Hungary. Search for other works by this author on: Oxford Academic PubMed Google Scholar T VECSEY, T VECSEY From the Cardiovascular Surgical Clinic, Budapest, Hungary Search for other works by this author on: Oxford Academic PubMed Google Scholar V KÉKESI, V KÉKESI From the Cardiovascular Surgical Clinic, Budapest, Hungary Search for other works by this author on: Oxford Academic PubMed Google Scholar A JUHÁSZ-NAGY A JUHÁSZ-NAGY From the Cardiovascular Surgical Clinic, Budapest, Hungary Search for other works by this author on: Oxford Academic PubMed Google Scholar Cardiovascular Research, Volume 23, Issue 10, October 1989, Pages 882–886, https://doi.org/10.1093/cvr/23.10.882 Published: 01 October 1989 Article history Accepted: 08 May 1989 Published: 01 October 1989
Primary Prevention of Macroangiopathy in Patients With Short-Duration Type 2 Diabetes by Intensified Multifactorial Intervention
Authors: Yu Yang, Jun-jie Yao, Jian-ling Du, Ran Bai, Li-peng Sun, Guo-hua Sun, Gui-rong Song, Si-ming Cao, Chun-hong Shi, Ying Ba, Qian Xing, Xue-yang Zhang
Journal: Diabetes Care (2012)

OBJECTIVE To explore whether intensified, multifactorial intervention could prevent macrovascular disease in patients with recently diagnosed type 2 diabetes. RESEARCH DESIGN AND METHODS A total of 150 type 2 diabetic patients, with disease duration of &amp;lt;1 year and without clinical arteriosclerotic disease or subclinical atherosclerotic signs confirmed by ultrasonographic scanning of three conducting arteries, were randomized into an intensive intervention group and a conventional intervention group. They then received intensive, multifactorial intervention or conventional intervention over 7 years of follow-up. The patients’ common carotid intima-media thicknesses (CC-IMTs) were measured every year. The primary outcome was the time to the first occurrence of CC-IMTs ≥1.0 mm and/or development of atherosclerosis plaques in the carotid artery. The secondary outcome was clinical evidence of cardiovascular disease. RESULTS A total of 70 patients in the intensive group and 68 patients in the conventional group completed the 7-year follow-up. Subclinical macrovascular (primary) outcomes occurred in seven cases in the intensive group and 22 cases in the conventional group for a cumulative prevalence of 10.00 and 32.35%, respectively (P &amp;lt; 0.05). No significant differences between the two groups were observed regarding the secondary outcome. CONCLUSIONS Primary prevention of macrovascular diseases can be achieved through intensified, multifactorial intervention in patients with short-duration type 2 diabetes. Type 2 diabetic patients should undergo intensive multifactorial interventions with individual targets for the prevention of macrovascular diseases.
Diagnostic Strategy for Hematology and Oncology Patients with Acute Respiratory Failure
Authors: Amit Gohil, Nayer Khazeni
Journal: American Journal of Respiratory and Critical Care Medicine (2011)

Rationale: Respiratory events are common in hematology and oncology patients and manifest as hypoxemic acute respiratory failure (ARF) in up to half the cases. Identifying the cause of ARF is crucial. Fiberoptic bronchoscopy with bronchoalveolar lavage (FO-BAL) is an invasive test that may cause respiratory deterioration. Recent noninvasive diagnostic tests may have modified the risk/benefit ratio of FO-BAL.Objectives: To determine whether FO-BAL in cancer patients with ARF increased the need for intubation and whether noninvasive testing alone was not inferior to noninvasive testing plus FO-BAL.Methods: We performed a multicenter randomized controlled trial with sample size calculations for both end points. Patients with cancer and ARF of unknown cause who were not receiving ventilatory support at intensive care unit admission were randomized to early FO-BAL plus noninvasive tests (n = 113) or noninvasive tests only (n = 106). The primary end point was the number of patients needing intubation and mechan...
Outcome of a cohort of 300 patients with systemic lupus erythematosus attending a dedicated clinic for over two decades
Authors: K E Moss
Journal: Annals of the Rheumatic Diseases (2002)

To examine the mortality rate and causes of death in a cohort of 300 patients with systemic lupus erythematosus (SLE).A retrospective analysis was performed on all patients attending the SLE clinic between 1978 and 2000. Information was obtained on those patients lost to follow up. Cause of death was analysed and categorised as early (<5 years after diagnosis of SLE) and late (>5 years after diagnosis of SLE). Standardised mortality rates were obtained.The patients were followed up for a median of 8.3 years. Seventy three (24%) patients were no longer followed up at the end of the study period, of whom 41 (14%) had died. Of the 32 patients lost to follow up, 14 were being actively followed up within the UK, 16 were followed up outside the UK, and two patients were untraceable. The most common cause of death was malignancy, which accounted for eight (20%) deaths, followed by infection and vascular disease, which accounted for seven (17%) deaths each.Malignancy was the most common cause of death. Cause of death varied depending on disease duration. Forty per cent of early deaths were due to SLE related renal disease, whereas 23% of late deaths were due to vascular causes. Death due to infection occurred throughout the follow up period. There was a fourfold increased risk of death in our cohort of patients with SLE compared with the general population.
Does the BMJ have a particular ideology to pursue in assisted dying?
Authors: A. M. Houghton
Journal: BMJ (2012)

The BMJ continues its support of assisted dying by praising a self selected committee on assisted suicide chaired by an advocate of assisted suicide and euthanasia, Lord Falconer.

The BMA has questioned the independence of Lord Falconer’s commission and refused to give evidence to it. The BMA called on the BMJ editorial team to …
Angiotensin II receptor blockade during gestation attenuates collagen formation in the developing rat heart
Authors: S Lamparter
Journal: Cardiovascular Research (1999)

Fetal cardiac development includes rapid formation of a three-dimensional collagen network, composed mainly of type I and III fibrillar collagens. Collagen fibrils have been found in cardiac jelly at very early stages of cardiac development and are thought to have structural and functional properties. In adult rat cardiac tissue, angiotensin II (AngII) via AT1 receptor binding and AngII-regulated expression of transforming growth factor beta-1 (TGF-beta 1) each upregulate collagen transcription. AT1 and AT2 receptor subtypes are developmentally regulated; both have been localized in fetal tissue where the AT2 receptor is considered a determinant of morphogenesis. We sought to determine whether blockade of either receptor would result in attenuation of collagen mRNA expression and fibrillar collagen accumulation and alter TGF-beta 1 mRNA expression in the developing fetal heart examined at birth.Pregnant rats were treated either with an AT1 receptor antagonist losartan or an AT2 receptor antagonist PD123319 and compared with untreated age-matched controls. Offspring were studied within 24 h of birth. Type I and type III collagen mRNA expression, as well as TGF-beta 1 mRNA expression, were examined by in situ hybridization. Collagen concentration was determined spectrophotometrically by picrosirius red staining and type I and III collagens were detected by immunoblotting.We found: (1) comparable birth weights in control and PD123319-treated animals, but reduced body weight in newborn losartan-treated animals; (2) compared to untreated animals, type I collagen and TGF-beta 1 mRNA expression in cardiac tissue were each equally reduced in both losartan and PD123319-treated animals; (3) increased type III collagen mRNA expression in both PD123319- and losartan-treated groups; and (4) a significant decrease in total soluble cardiac collagen concentration in both losartan and PD123319-treated groups, confirmed by attenuated immunoreactivity of type I and III collagens in whole heart extracts by Western blotting.The results of these pharmacologic interventions suggest AngII receptors are expressed in cardiac tissue during gestation, where both AT1 and AT2 receptors are involved in the regulation of type I and III collagen expression and structural protein accumulation. These effects appear to be mediated, in part, by attenuated cardiac TGF-beta 1 levels. The marked decrease in newborn cardiac collagen content has yet undefined functional consequences.
Magnesium Sulphate in Tropical Dysentery
Authors: F. A. Rouget
Journal: BMJ (1899)

of infection could be traced, nor between this case and the next, which occurred four weeks later.This.however, is the history of the disease everywhere.The general health of the gaol is very good; with i,8oo prisoners the death-rate per mille is only i i, a figure almost as good as any English prison and less than half the provincial (Bengal) death-rate for men from 15 to 45 years.The case is interesting on account of three features not hitherto reported in any case in India (i) lumbar puncture;(2) the finding and culture of the diplococcus intracellularis of Weischelbaum and the demonstration of Kernig's symptoms; the latter a valuable aid in diagnosis which has not yeb found its way into the textbooks.
Diagnosis of Acute Porphyria
Authors: E. G. Saint, D. Curnow, R. Paton, J. B. Stokes
Journal: BMJ (1954)

Although the pattern of symptomatology in acute inter- mittent porphyria is recognizable with ease in retrospect or in frankly paralytic cases, it is well known that strik- ing simulation of abdominal or neuropsychiatric disease may deceive the practitioner with no personal experience of the condition.The disease may be described as uncommon but not rare.In Australia it is possible to arrive at an approxi- mate estimation of its incidence.Ten cases have already been reported (Derrick, 1946, two cases; Hetzel, 1949, two cases ; Saint.et al., 1952, six cases).Fifteen new cases were diagnosed in one year (1952-3) in Western Australia, South Australia, Victoria, and part of New South Wales, giving an approximate " standardized " incidence of 1.5 per 100,000 in adult females.Other mild cases undoubtedly pass unrecognized; but the inci- dence is low enough to preclude the majority of family doctors and many general physicians attending a case in the course of their professional life.Since there is evidence that the indiscriminate use of some drugs, notably barbiturates and sulphonamides, mnay materially worsen prognosis, it is felt that attention should be paid to early clinical recognition.Three further cases of acute porphyria are presented from this point of view.In each case diagnosis was eventually established by the identification of porphobilinogen in the urine by means of the modified Ehrlich reaction of Watson and
Studies on the cellular origin of neurothekeoma: Clinical, light microscopic, immunohistochemical, and ultrastructural observations
Authors: Raymond L. Barnhill, G. Richard Dickersin, Volker Nickeleit, Atul K. Bhan, Jan E. Muhlbauer, Mildred E. Phillips, Martin C. Mihm
Journal: Journal of the American Academy of Dermatology (1991)
Photoconvertible Pathogen Labeling Reveals Nitric Oxide Control of Leishmania major Infection In Vivo via Dampening of Parasite Metabolism
Authors: Andreas J. Müller, Salome Aeschlimann, Romain Olekhnovitch, Mariko Dacher, Gerald F. Späth, Philippe Bousso
Journal: Cell Host & Microbe (2013)

Highlights•Photoconvertible pathogens can be used to track dissemination at infection sites•Recovery from photoconversion closely correlates with pathogen proliferation•Nitric oxide can inhibit L. major metabolism in vivo without exerting direct killingSummaryThe immune system can control infectious diseases through different modes of action, including direct killing or spatial confinement. Addressing how the immune system impacts pathogen biology in vivo has remained challenging. We expressed a photoconvertible fluorescent protein in pathogens in order to track their spatial dissemination in infected tissues. In addition, we developed the fluorescence recovery after photoconversion (FRAC) method in order to probe pathogen metabolic activity in vivo. Combining these two approaches in the context of Leishmania major infection of mice and pharmacologically inhibiting iNOS, we found that nitric oxide produced during the immune response to L. major reduces the metabolic activity of intracellular parasites without necessarily exerting direct killing. We propose that this chronic pressure on pathogen proliferation represents a sublethal mode of control required for ultimately resolving the infection. The ability to probe pathogen biology in response to immune defense mechanisms in vivo should create opportunities for better dissecting host-pathogen interactions.Graphical abstract
Changing Childbirth: Family Birth in the Hospital
Authors: Allan G. Charles
Journal: JAMA (1983)

<i>Changing Childbirth: Family Birth in the Hospital</i>, by Diony Young, is a book that should be read by every person dealing with women in childbirth, especially persons responsible for planning hospital birthing rooms and free-standing birthing centers. The book is heavily researched and, wherever possible, in controversial items, Ms Young attempts to be as objective as possible. The bibliography is immense. She approaches her topic with a missionary zeal, and, although the primary aim is improvement of family birth in the hospital, the bottom line is humanization of the birth process even within the framework of modern technological advances. For this, she is to be highly commended. In the chapter "Selected Obstetrical Practices," Young discusses the pros and cons of many issues provoking discussions between consumers and providers of obstetrical services. These issues include routine fetal monitoring, routine IVs, routine episiotomies, and routine enemas. While one might not agree with
Inspiratory muscle training in chronic airflow limitation: comparison of two different training loads with a threshold device
Authors: C Lisboa, V Munoz, T Beroiza, A Leiva, E Cruz
Journal: European Respiratory Journal (1994)

The usefulness of inspiratory muscle training (IMT) in chronic airflow limitation (CAL) patients is a controversial issue, mainly due to differences in the training load. To further evaluate this aspect, we studied the effect of the magnitude of the load using a threshold pressure trainer. Ten CAL patients (5 males, 5 females) 67 +/- 2 yrs (mean +/- SEM) and forced expiratory volume in one second (FEV1) 36 +/- 2% pred, were trained for 30 min a day using a load of 30% of their maximal inspiratory mouth pressure (PImax) (Group 1). Another 10 CAL patients (5 males, 5 females), 73 +/- 2 yrs and FEV1 37 +/- 2% pred), were trained using only 12% of their PImax (Group 2). Training was assessed by PImax, inspiratory muscle power output (IMPO), sustainable inspiratory pressure (SIP), maximal inspiratory flow rate (VImax), pattern of breathing during loaded breathing, Mahler's dyspnoea score, and the 6 min walking distance (6MWD). After 5 weeks of training, Group 1 exhibited significant increments in: PImax (34 +/- 11%); IMPO (92 +/- 16%); SIP (36 +/- 9%); and VImax (34 +/- 13%). Dyspnoea was also reduced, and the 6MWD increased by 48 +/- 22 m. We observed no significant changes in Group 2. During loaded breathing, Group 1 showed a significant increment in tidal volume (VT) and mean inspiratory flow (VT/TI), and a reduction in inspiratory time (TI). In Group 2, VT and VT/TI also increased significantly, but the breathing frequency increased with a reduction of expiratory time.(ABSTRACT TRUNCATED AT 250 WORDS)
Underreporting of suspected adverse drug reactions to newly marketed ("black triangle") drugs in general practice: observational study
Authors: R. M Martin, K. V Kapoor, L. V Wilton, R. D Mann
Journal: BMJ (1998)

Data on side effects of newly launched drugs are limited,1 highlighting the need for effective postmarketing surveillance. An inverted black triangle (▾) on product literature identifies new products. Suspected adverse reactions to these drugs, however minor, should be reported to the Committee on Safety of Medicines through the yellow card scheme.2 Adverse reactions are underreported,3 and few doctors in the United Kingdom know the meaning of the “black triangle” symbol.4 We assessed the degree of underreporting of suspected adverse reactions to new drugs in general practice and determined if reporting varied when reactions were severe or previously unrecognised.

The Drug Safety Research Unit performs observational cohort studies (prescription event monitoring) on selected newly marketed drugs in general practice. All patients in England who have been dispensed selected new drugs are identified for these studies by the Prescription Pricing Authority. Questionnaires (“green forms”) are subsequently sent to …
Gentamicin Therapy in Renal Failure: A Nomogram for Dosage
Authors: R. A. CHAN
Journal: Annals of Internal Medicine (1972)

Gentamicin has been given to patients with compromised renal function or severe renal failure, in toxic or nearly toxic peak serum concentrations followed by long periods of subinhibitory serum levels. A nomogram to allow safe, inhibitory serum gentamicin levels (3 to 8 µg/ml) in a steady-state manner was developed. The nomogram regimen is based on an elimination constant (K2) for 8-hour periods, as developed from half-life values at various levels of Seventeen patients with renal failure and life-threatening infections caused by Gram-negative bacilli were treated according to the nomogram. All the infections were controlled, and serum gentamicin concentrations that were inhibitory yet nontoxic were documented in all patients, including two who had repeated hemodialysis.
Experiments on Santonin
Authors: R. Farquharson
Journal: BMJ (1871)

rare indeed to see the bold flat-headed pustule in the hxemorrhagic small-pox.In the case above related, on the eleventh day the eruption was still in the vesicular stage.The patients smit a peculiar fcetid odour, very different indeed from the characteristic smell of ordinary small-pox: it conveys the impres- sion of putridity, and is consequently more disgusting.T. I. had only slight delirium, which did not come on until within thirty-six hours of his death; and this will be found to be the history of a large proportion of the baemorrhagic cases.Delirium as a rule does not occur at so early a stage of the disease, and is not so violent in its character, as in ordinary small-pox; and is usually the immediate precursor of a fatal result.Patients take nourishment freely during the whole course of the dis- ease, if we except those cases where, in the earlier stages, there is much swelling of the fauces and consequently difficulty of swallowing.The temperature and the pulse, and I may add the respiration, do not seem to bear any fixed ratio to one another, but in almost every case vary to a great extent.As a guide to prognosis, most reliance is to be placed on the indications shown by the last named-namely, the respiration.In this individual, the temperature ranged high for a haemorrhagic case; but, as usually happens, death was pre-
Letter: Mechanism of gouty inflammation.
Authors: J S Cameron
Journal: BMJ (1973)

Mechanism of Gouty Inflammation SIR,-In your leading article on this subject (20 October, p. 125) you emphasize the occurrence of leucotaxis after ingestion of sodium urate crvstals by lucocytes.You might also have mentioned the elegant work of Naff and his colleagues,3 2 which showed that sodium urate cystals (but not calcium pyrophosphate) are capable of activating compl-ment with release of chemotactic factors directly, without ingestion by cells.This mechanism may operate in acute gouty arthropathy as well, and contribute to the exuda-e.Complement depletion in animals inhibiPs uric acid crystal-induced inflamma- tion.3I am, etc.,
Cardiovascular Disease, Diabetes Mellitus, and Anthropometric Evaluation of Polynesian Males on the Island of Niihau-1963
Authors: DAVID R. BASSETT, GERALD ROSENBLATT, ROBERT C. MOELLERING, ALFRED S. HARTWELL
Journal: Circulation (1966)

A study of 30 adult Polynesian males living on the isolated Hawaiian island of Niihau was conducted in October 1963. These relatively pure Polynesians were distinctly overweight, had a high prevalence of diabetes, and were hypertensive. Hematocrit values and whole blood viscosity were elevated. Serum uric acid levels were normal. Though Hawaiians generally have a high mortality rate from coronary heart disease, the average serum cholesterol level for this group was 30 to 40 mg% lower than in most populations having a high prevalence of coronary heart disease.
Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome
Authors: Fadi Fakhouri, Mathieu Jablonski, Jacques Lepercq, Jacques Blouin, Alexandra Benachi, Maryvonne Hourmant, Yves Pirson, Antoine Dürrbach, Jean-Pierre Grünfeld, Bertrand Knebelmann, Véronique Frémeaux-Bacchi
Journal: Blood (2008)
303 EARLY ACTIVATION OF EFFECTOR CYTOTOXIC NK CELLS PREDICTS SUCCESSFUL TREATMENT OUTCOME IN CHRONIC HCV INFECTION
Authors: B. Oliviero, D. Mele, E. Degasperi, E. Cremonesi, S. Varchetta, A. Aghemo, M.G. Rumi, C. Tinelli, M. Colombo, M.U. Mondelli
Journal: Journal of Hepatology (2011)