tbuckley/cabot-search huggingface dataset:
Sickle cell anemia associated with α‐thalassemia in Malaysian Indians
Authors: Luan Eng Lie‐Injo, Khalid Hassan, Suresh K. Joishy, Mu Lan Lim
Journal: American Journal of Hematology (1986)

Abstract The Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of α‐globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98:503, 1975), using α‐ and ζ‐globin gene probes obtained by nick translation of the α‐ and ζ‐globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have α‐thalassemia 2 (α‐thal 2 ), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have α‐that 2 or or‐thal 1 and 24 had α‐thal 2 (15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with α‐thal 2 had an additional gene abnormality. Five of them had a fast‐moving Eco RI fragment 5.6 kb long that hybridized with ζ‐specific probe but not with α‐specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl II restriction analysis showed that the α‐thal 2 was mostly of the rightward deletion α‐thal 2 genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type α‐thal 1 . The sickle cell anemia patients had very high levels of Hb F and low levels of Hb A 2 . The Hb S trait carriers with α‐thal 2 had relatively low levels of Hb S.
CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia
Authors: Hideki Makishima, Anna M. Jankowska, Michael A. McDevitt, Christine O'Keefe, Simon Dujardin, Heather Cazzolli, Bartlomiej Przychodzen, Courtney Prince, John Nicoll, Harish Siddaiah, Mohammed Shaik, Hadrian Szpurka, Eric Hsi, Anjali Advani, Ronald Paquette, Jaroslaw P. Maciejewski
Journal: Blood (2011)
Umbilical cord clamping and preterm infants: a randomised trial.
Authors: S Kinmond, T C Aitchison, B M Holland, J G Jones, T L Turner, C A Wardrop
Journal: BMJ (1993)

OBJECTIVE--To investigate the clinical effects of regulating umbilical cord clamping in preterm infants. DESIGN--A prospective randomised study. SETTING--The Queen Mother9s Hospital, Glasgow. SUBJECTS--36 vaginally delivered infants over 27 and under 33 weeks9 gestation. INTERVENTION--Holding the infant 20 cm below the introitus for 30 seconds before clamping the umbilical cord ("regulated" group, 17 patients), or conventional management ("random" group, 19 patients). MAIN OUTCOME MEASURES--Initial packed cell volume, peak serum bilirubin concentrations, red cell transfusion requirements, and respiratory impairment (assessed by ventilatory requirements, arterial-alveolar oxygen tension ratio over the first day in ventilated infants, and duration of dependence on supplemental oxygen). RESULTS--There were statistically significant differences between the two groups in mean initial packed cell volume (regulated group 0.564, random group 0.509) and median red cell transfusion requirements (regulated group zero, random group 23 ml/kg). 13 infants from each group underwent mechanical ventilation and showed significant differences in mean minimum arterial-alveolar oxygen tension ratio on the first day (regulated group 0.42, random group 0.22) and in median duration of dependence on supplemental oxygen (regulated group three days, random group 10 days). Differences in final outcome measures such as duration of supplemental oxygen dependence and red cell transfusion requirements were mediated primarily through arterial-alveolar oxygen tension ratio and also packed cell volume. CONCLUSIONS--This intervention at preterm deliveries produces clinical and economic benefits.
Primary Tumor of the Pericardium Involving the Myocardium: Surgical Removal
Authors: LEW A. HOCHBERG, ALEXANDER I. ROBINSON
Journal: Circulation (1950)

A case is presented in which a primary tumor of the pericardium, with myocardial involvement, was discovered at the time of surgical exploration. The tumor was removed and the patient has remained well and active at the time of this report, eighteen months after the operation.
Pheochromocytoma and Prazosin
Authors: JOHN P. NICHOLSON
Journal: Annals of Internal Medicine (1983)

Prazosin was used to control the signs and symptoms of excessive alpha-adrenergic activity in four patients with pheochromocytomas. Long-term dosage requirements were predicted by the blood pressure response to a single 1-mg oral dose. However, surgical management of the pheochromocytomas was inadequate with prazosin alone, and intravenous phentolamine was required to suppress the pressor surges generated by the tumor during surgical manipulation and excision.
A RANDOMIZED COMPARISON OF VASCULAR COMPLICATIONS AFTER TAVR COMPARING THE SAPIEN VERSUS THE LOWER-PROFILE SAPIEN-XT SYSTEM IN ‘INOPERABLE’ AORTIC STENOSIS PATIENTS: A PARTNER 2 SUBSTUDY ANALYSIS
Authors: Augusto Pichard, Darshan Doshi, Susheel Kodali, Lowell Satler, Itsik Ben-Dor, Mathew Williams, Ron Waksman, David Brown, Vinod Thourani, E. Murat Tuzcu, John Webb, Martin Leon
Journal: Journal of the American College of Cardiology (2014)
Skin Reactions to Topical Aminophylline
Authors: Pamela A. Simon
Journal: JAMA (1995)

To the Editor.  —Topical aminophylline for reduction of thigh fat was publicized widely after a study in 12 women was presented at the North American Association for the Study of Obesity.1Several products are available over-the-counter, with marketing claims limited to smoother appearing thighs, reportedly to limit controlled testing and scrutiny by the Food and Drug Administration (FDA).2  Since this cream is now widely available to the public, physicians must be aware of possible side effects of topical aminophylline. As early as 1958, localized topical dermatitis was reported in a pharmacist who extemporaneously prepared aminophylline suppositories.3The topical dermatitis is due to a type IV hypersensitivity reaction to the ethylenediamine complexed in the aminophylline molecule.3A more serious dermatologic reaction, exfoliative dermatitis or erythroderma, has also been reported secondary to aminophylline.4The prevalence of ethylenediamine sensitivity in the general population has not been estimated. Ethylenediamine
The Mouse Dystrophin Muscle Promoter/Enhancer Drives Expression of Mini-dystrophin in Transgenic mdx Mice and Rescues the Dystrophy in These Mice
Authors: Carrie L. Anderson, Yves De Repentigny, Carlo Cifelli, Philip Marshall, Jean-Marc Renaud, Ronald G. Worton, Rashmi Kothary
Journal: Molecular Therapy (2006)

Successful gene therapy for Duchenne muscular dystrophy (DMD) requires the restoration of dystrophin protein in skeletal muscles. To achieve this goal, appropriate regulatory elements that impart tissue-specific transgene expression need to be identified. Currently, most muscle-directed gene therapy studies utilize the muscle creatine kinase promoter. We have previously described a muscle enhancer element (mDME-1) derived from the mouse dystrophin gene that increases transcription from the mouse dystrophin muscle promoter. Here, we explore the use of this native mouse dystrophin muscle promoter/enhancer to drive expression of a human dystrophin minigene in transgenic mice. We show that the dystrophin promoter can provide tissue-specific transgene expression and that the mini-dystrophin protein is expressed at the sarcolemma of skeletal muscles from mdx mice, where it restores the dystrophin-associated glycoprotein complex. The level of transgene expression obtained is sufficient to protect mdx muscles from the morphological and physiological symptoms of muscular dystrophy, as well as from exercise-induced damage. Therefore, the dystrophin muscle promoter/enhancer sequence represents an alternative for use in gene therapy vectors for the treatment of DMD.
Histone Deacetylase Inhibitors Affect Dendritic Cell Differentiation and Immunogenicity
Authors: Alessio Nencioni, Julia Beck, Daniela Werth, Frank Grünebach, Franco Patrone, Alberto Ballestrero, Peter Brossart
Journal: Clinical Cancer Research (2007)

Abstract Purpose: Histone deacetylases (HDAC) modulate gene transcription and chromatin assembly by modifying histones at the posttranscriptional level. HDAC inhibitors have promising antitumor activity and are presently explored in clinical studies. Cumulating evidence in animal models of immune disorders also suggests immunosuppressive properties for these small molecules, although the underlying mechanisms remain at present poorly understood. Here, we have evaluated the effects of two HDAC inhibitors currently in clinical use, sodium valproate and MS-275, on human monocyte-derived DCs. Experimental Design: DCs were generated from monocytes through incubation with granulocyte macrophage colony-stimulating factor and interleukin-4. DC maturation was induced by addition of polyinosinic-polycytidylic acid. DC phenotype, immunostimulatory capacity, cytokine secretion, and migratory capacity were determined by flow cytometry, mixed leukocyte reaction, ELISA, and Transwell migration assay, respectively. Nuclear translocation of RelB, IFN regulatory factor (IRF)-3, and IRF-8 were determined by immunoblotting. Results: HDAC inhibition skews DC differentiation by preventing the acquisition of the DC hallmark CD1a and by affecting the expression of costimulation and adhesion molecules. In addition, macrophage inflammatory protein-3β/chemokine, motif CC, ligand 19–induced migration, immunostimulatory capacity, and cytokine secretion by DCs are also profoundly impaired. The observed defects in DC function on exposure to HDAC inhibitors seem to reflect the obstruction of signaling through nuclear factor-κB, IRF-3, and IRF-8. Conclusions: HDAC inhibitors exhibit strong immunomodulatory properties in human DCs. Our results support the evaluation of HDAC inhibitors in inflammatory and autoimmune disorders.
Normal-Pressure Hydrocephalus in Rheumatic Patients
Authors: Johannes J. Rasker, Ernst N.H. Jansen, Joost Haan, Jan Oostrom
Journal: New England Journal of Medicine (1985)

In our rheumatologic clinics the diagnosis of idiopathic "normal"-pressure hydrocephalus has been made in six patients during the past three years. This disorder is characterized by the triad of gait disturbance, urinary incontinence, and dementia, all variable in severity.1 2 3 Since this diagnosis had not been made previously in our department of rheumatology, we assume that it has hitherto been overlooked.The mean period between the development of the first symptoms of normal-pressure hydrocephalus in our patients and the time when the disorder was diagnosed was 3.3 years; symptoms and signs were at first ascribed to arthritis and age. The main . . .
A COMPARISON OF THE ANATOMY AND THE FUNCTIONS OF THE CEREBRUM AND THE CEREBELLUM.
Authors: WILLIAM FULLER
Journal: JAMA (1898)

In order to understand the anatomy and the connections of the cerebrum and the cerebellum, it will be necessary to present a cursory view of the general structure of the central nervous system. For the purpose of description it will be advantageous to divide the cerebro-spinal axis into three portions, which may be compared with each other by similarity of parts, though differing in their arrangement. The three divisions of the axis which I shall make are, the spinal cord, the cerebellum and the cerebrum. Each of these parts is divided into lateral halves by a median fissure. The lateral halves are united in the median line by a commissure; each portion encloses a cavity or ventricle which is continuous with that of the others, and each is composed of gray matter, of motor and sensory function, with commissures of white matter extending between the gray masses, or the nerve
Pulmonary capacities of different groups of sportsmen in India.
Authors: A K Ghosh, A Ahuja, G L Khanna
Journal: British Journal of Sports Medicine (1985)

Pulmonary functional capacities, vital capacity (VC) maximum voluntary ventilation (MVV), forced expiratory volume in 1 second and FEV 1.0 (per cent VC) of 168 sportsmen belonging to different sports activities and of 10 sedentary individuals have been studied. It was observed that all these pulmonary functional capacities of different groups of sportsmen were higher than those of the sedentary group. The mean VC of the basketball, boxing, cricket, football, hockey and the table tennis groups, the mean MVV of all the groups except the athletic, badminton and football groups, and the mean FEV 1.0 of football, hockey, swimming and volleyball groups were significantly higher than those of the sedentary group. The mean values of all the three pulmonary functional capacities of only the hockey group were found to be significantly higher than those of the sedentary individuals. The available reported pulmonary capacity values, except FEV 1.0 of a few groups of sportsmen studied abroad, were higher than those of their counterparts studied here. These might be due to the ethnic variation as well as the variation in age, body size and level of physical fitness which influence the different pulmonary capacities.
Effect of tumor necrosis factor alpha on mitogen-activated human B cells.
Authors: J H Kehrl, A Miller, A S Fauci
Journal: The Journal of Experimental Medicine (1987)

In this study we demonstrate that the monocyte/macrophage product, tumor necrosis factor alpha (TNF-alpha), has significant in vitro effects of B cell function. It costimulated with anti-mu in the induction of B cell DNA synthesis, and it prolonged the DNA synthesis initiated in B cell cultures stimulated with the human B cell mitogen, Staphylococcus aureus Cowan strain I (SAC). The addition of either IL-1 or IFN-gamma to TNF-alpha resulted in a substantial further increase in DNA synthesis. The addition of TNF-alpha to IL-2, a known inducer of SAC-activated B cell Ig secretion, resulted in a twofold enhancement in the amount of IL-2 stimulated B cell Ig secretion. Receptor binding studies with 125I-TNF-alpha demonstrate a marked increase in TNF-alpha binding sites after B cell activation (approximately 6,000 sites per cell, with an apparent Kd of 2.0 X 10(-10) M). Thus, TNF-alpha may be an important factor in human B cell function and is likely to interact with other T cell and monocyte derived cytokines in the regulation of human B cell proliferation and Ig production.
General Practitioners and Nursing Staff: A Complete Attachment Scheme in Retrospect and Prospect
Authors: J. F. Warin
Journal: BMJ (1968)

The history of the Oxford general-practitioner/nursing-staff attachment scheme is briefly recorded from the first experimental full-time attachment of a health visitor to a partnership of three in November 1956 to the complete attachment of all nursing staff by 4 March 1965.For the past three years every practice, large and small, has hed at least one health visitor, one district nurse, and one midwife, either full-time or part- time according to its need.The concept of the general practitioner as leader of the domiciliary team is working actively in practice throughout the whole city, to the advantage of patients, doctors, and nurses.It is believed that Oxford is still the only local health authority to have a complete attachment scheme, so that an account of our experience may be of interest to others. Materials AvailableOxford, which is very much an industrial centre as well as a university city, had a population of 104,500 at the commence- ment of the scheme in 1956, and this has increased only slightly to 109,320 in 1965 when the scheme was completed.The city is divided longitudinally by the rivers Cherwell and Isis, and practices, on the whole, tend to concentrate on one side or the other.At the beginning of the scheme there were 32 practices, comprising 68 doctors, of whom 14 were in single-handed practice, seven had two partners, nine had three, two had four, and one had five partners.The nursing staff establishment, which remained static throughout the scheme, comprised 19 health visitors, 21 district nurses, and 10 midwives.This gives a ratio of one health visitor to 3.6 doctors, one district nurse to 3.4 doctors, and one midwife to 6.8 doctors.It also means that there is one health visitor to 5,700 population, one district nurse to 5,200 population, and one midwife to 10,900 popula- tion. Methods ConceptMembership of the health visitors working party emphasized the conclusion already reached by me that the future of health visitors lay in working in the closest possible relation with general practitioners.All the recognized means of achieving co-operation, including liaison schemes, had already been tried in Oxford, but in spite of great goodwill they were largely ineffective.General practitioners just did not understand the work of health visitors, and it was felt that they never would until both were responsible for the same patients and met
Present Status of Diagnosis and Treatment of Pheochromocytoma
Authors: U. S. VON EULER, G. STRÖM
Journal: Circulation (1957)

For detection and diagnosis of pheochromocytoma the method of urine analysis is considered the most convenient, safe, and accurate. Analysis of blood samples obtained by catheterization at different levels in the vena cava aids in localization. Some features of the clinical symptomatology and the pharmacologic and operative treatment of patients with chromaffin-cell tumors are given.
NHS Direct Online explores partnerships with other health organisations
Authors: L. Eaton
Journal: BMJ (2002)

Since it was set up in 1998, NHS Direct has been, by all accounts, a success. The telephone helpline handles 7.5 million calls a year. Even the National Audit Office said earlier this year that it had achieved high patient satisfaction and had a good safety record.

But there are other less high profile ways of accessing information from NHS Direct—including digital television, touch screen machines in shopping centres, and its website, NHS Direct Online. It online site (http://www.nhsdirect.nhs.uk/), first launched in 1999,was relaunched in November last year and in January 2002 alone had 250,000 visitors.

With the government trumpeting NHS Direct, it is vital that the information it gives out, both on the phone and through its other portals, is accurate, up to date, and appropriate. The recent publicity when a young baby died after NHS Direct staff failed to pick up meningitis showed that such a high profile service cannot afford to get things wrong.

Bob Gann, chief executive on NHS Direct Online, is only too well aware of the importance of information. It has been his business. He started out as a medical librarian before moving into patient information and becomes passionate as he talks about empowering patients by giving them good quality information—not just on the website but across the whole of NHS Direct.

An …
Long term sickness absence
Authors: Max Henderson, Nicholas Glozier, Kevin Holland Elliott
Journal: BMJ (2005)

may limit exercise to avoid symptoms.In many centres, aortic stenosis is still regarded as a contraindication rather than an indication for exercise testing.In view of the frequency and clinical importance of silent aortic stenosis, we should consider national screening strategies and ways of ensuring that patients with noteworthy murmurs have echocardiography.We need also to develop specialist clinical experience in aortic but also other types of valve disease since diagnostic formulations, treatment plans, and surgery may often be difficult.Aortic valve disease is under-recognised politically as well as clinically.It is not yet covered properly a national strategy document from the National Institute for Clinical Excellence (NICE) or any other organisation.As our population ages, the prevalence of aortic stenosis inevitably rises.By 2020, about 3.5 million of a total population of 54 million in England can be expected to have aortic sclerosis and 150 000 to have severe aortic stenosis. 12 We should prepare for this epidemic now.
Skipping Rope Fatalities.
Authors: W. E. McChesney
Journal: JAMA (1905)

Niagara Falls, N. Y., May 17, 1905. <h3>To the Editor</h3> —Referring to your editorial inThe Journal, April 29, p. 1374, I desire to call your attention to the fact that when a girl jumps the rope to break a record the count is only for the number of times that the rope swings under the feet. While the rope is passing over the head and back to the feet a half jump takes place, thus giving the child her balance for the next spring that will throw her feet high enough to clear the rope again. Thus, in order to clear the rope 250 or more times, the same number of half-jumps are required. The succession of rope-jumps has a peculiar jar about it that is a harmful exercise for the body when long continued. When we consider also the rhythmic movement that must of necessity take place to
Vertically transmitted HIV infection in the British Isles.
Authors: A E Ades, C F Davison, F J Holland, D M Gibb, C N Hudson, A Nicholl, D Goldberg, C S Peckham
Journal: BMJ (1993)

OBJECTIVE--To describe the epidemiology of vertically acquired HIV infection in the British Isles, the level of underreporting, the vertical transmission rate, and clinical spectrum of paediatric AIDS. DESIGN--Confidential, linked registers based on reporting from obstetricians and paediatricians; anonymous unlinked neonatal HIV serosurveys. SETTING--British Isles. SUBJECTS--Children born to mothers with HIV infection. MAIN OUTCOME MEASURES--Trends in HIV infection and vertical transmission rate. RESULTS--In Scotland and the Irish Republic, where most maternal HIV infection is related to drug misuse, the annual number of reports of children born to infected mothers has fallen since 1989. In England and Wales nearly half of maternal infections have been acquired overseas, and the number of children born to these women, and to women who became infected in Britain, is increasing. In south east England the proportion of live births to women whose infection was identified before delivery was only 17% (50/287), compared with 68% (26/38) in Scotland. The vertical transmission rate was 13.7% (23/168), and 23% of infected children developed AIDS in the first year of life. 41% (38/92) of children born to infected mothers who were ascertained after delivery were breast fed, compared with 5% (12/236) of those ascertained before delivery. CONCLUSIONS--The incidence of vertically transmitted HIV infection is increasing in England and Wales. More extensive antenatal testing would enable infected women to be counselled against breast feeding, which could prevent a substantial proportion of vertical transmission in some areas, and would increase opportunities for early diagnosis and treatment of infected children.
Spontaneous enteroumbilica fistula.
Authors: C S Ubhi, P W Wenham
Journal: BMJ (1984)

Tapping fracture of tibia An 18 year old man had a painful right shin after having been kicked playing football.The area was swollen, bruised, and tender, but no abnormality was seen on x ray examination.He was discharged.Pain per- sisted and increased while he was dancing eight days after the injury.Later his right leg gave way with a loud snap.X ray examination showed a tibial fracture.The fracture was undoubtedly caused by the kick, but intact, thick periosteum prevented displacement until the dancing.