tbuckley/cabot-search huggingface dataset:
Mutations in<i>SMARCAD1</i>cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes
Authors: J. Nousbeck, O. Sarig, L. Magal, E. Warshauer, B. Burger, P. Itin, E. Sprecher
Journal: British Journal of Dermatology (2014)

Autosomal dominant adermatoglyphia (ADG) is characterized by lack of palmoplantar epidermal ridges. Recently, ADG was found to be caused in one family by a mutation in SMARCAD1, a member of the SNF subfamily of the helicase protein superfamily.To investigate the genetic basis of ADG.We used direct sequencing and global gene expression analysis.We identified three novel heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) in a total of six patients. Surprisingly, all four ADG-causing mutations identified to date disrupt a single conserved donor splice site adjacent to the 3' end of a noncoding exon and are predicted to result in haploinsufficiency for a skin-specific isoform of SMARCAD1. These data indicate a pivotal role for the SMARCAD1-skin specific isoform in dermatoglyph formation. In order to better understand the consequences of ADG-associated mutations, we ascertained the global transcription profiles of primary keratinocytes downregulated for SMARCAD1 and of patient-derived keratinocytes. A total of eight genes were found to be differentially expressed in both patient-derived and knocked down keratinocytes. Of interest, these differentially expressed genes have been implicated in epidermal ontogenesis and differentiation, and in psoriasis, which is characterized by abnormal finger ridge patterns.The present data suggest that ADG is genetically homogeneous and result from perturbed expression of epidermal differentiation-associated genes.
Outcomes by Tumor Subtype and Treatment Pattern in Women With Small, Node-Negative Breast Cancer: A Multi-Institutional Study
Authors: Ines Vaz-Luis, Rebecca A. Ottesen, Melissa E. Hughes, Rizvan Mamet, Harold J. Burstein, Stephen B. Edge, Ana M. Gonzalez-Angulo, Beverly Moy, Hope S. Rugo, Richard L. Theriault, Jane C. Weeks, Eric P. Winer, Nancy U. Lin
Journal: Journal of Clinical Oncology (2014)

Treatment decisions for patients with T1a,bN0M0 breast cancer are challenging. We studied the time trends in use of adjuvant chemotherapy and survival outcomes among these patients.This was a prospective cohort study within the National Comprehensive Cancer Network Database that included 4,113 women with T1a,bN0M0 breast cancer treated between 2000 and 2009. Tumors were grouped by size (T1a, T1b), biologic subtype defined by hormone receptor (HR) and human epidermal growth factor receptor 2 (HER2) status, and receipt of chemotherapy with or without trastuzumab.Median follow-up time was 5.5 years. Eight percent of patients with HR-positive/HER2-negative tumors were treated with chemotherapy. Fifty-two percent of those with HER2-positive or HR-negative/HER2-negative breast cancers received chemotherapy, with an increase over the last decade. Survival outcomes diverged by subtype and size, but the 5-year distant relapse-free survival (DRFS) did not exceed 10% in any subgroup. The 5-year DRFS for patients with T1a tumors untreated with chemotherapy ranged from 93% to 98% (n = 49 to 972), and for patients with T1b tumors, it ranged from 90% to 96% (n = 17 to 2,005). Patients with HR-positive/HER2-negative disease had the best DRFS estimates, and patients with HR-negative/HER2-negative tumors had the lowest. In this observational, nonrandomized cohort study, the 5-year DRFS for treated patients with T1a tumors was 100% for all subgroups (n = 12 to 33), and for patients with T1b tumors, it ranged from 94% to 96% (n = 88 to 241).Women with T1a,b tumors have an excellent prognosis without chemotherapy. Size and tumor subtype may identify patients in whom the rate of recurrence justifies consideration of chemotherapy. These patients represent an optimal group for evaluating less toxic adjuvant regimens to maintain efficacy while minimizing short- and long-term risks.
THE TRAINED NURSE OF THE FUTURE
Authors: RICHARD OLDING BEARD
Journal: JAMA (1913)

With the ever-extending specialization of modern society, certain social groups take on the character of human commodities. They do not produce, but they conserve values. To these groups, the profession of nursing women belongs. These human commodities are created, in the course of social development, by the need for personal service as between man and man and by the demand that this personal service, in degree of the exigency of human need, shall be of expert quality. Some particular agency of social service is frequently employed for the immediate supply of such expert assistance. In the case of the trained nurse, the hospital has served as her creative agent. Not unnaturally, the agent of creation becomes or attempts to become the maker and the molder of the thing created; and not infrequently it comes to regard the creature it has incubated as its own particular perquisite, and designed specifically for
New-Onset Atrial Fibrillation
Authors: Karin H. Humphries, Charles R. Kerr, Stuart J. Connolly, George Klein, John A. Boone, Martin Green, Robert Sheldon, Mario Talajic, Paul Dorian, David Newman
Journal: Circulation (2001)

Background —Although sex differences in coronary artery disease have received considerable attention, few studies have dealt with sex differences in the most common sustained cardiac arrhythmia, atrial fibrillation (AF). Differences in presentation and clinical course may dictate different approaches to detection and management. We sought to examine sex-related differences in presentation, treatment, and outcome in patients presenting with new-onset AF. Methods and Results —The Canadian Registry of Atrial Fibrillation (CARAF) enrolled subjects at the time of first ECG-confirmed diagnosis of AF. Participants were followed at 3 months, at 1 year, and annually thereafter. Treatment was at the discretion of the patients’ physicians and was not directed by CARAF investigators. Baseline and follow-up data collection included a detailed medical history, clinical, ECG, and echocardiographic measures, medication history, and therapeutic interventions. Three hundred thirty-nine women and 560 men were followed for 4.14±1.39 years. Compared with men, women were older at the time of presentation, more likely to seek medical advice because of symptoms, and experienced significantly higher heart rates during AF. Compared with older men, older women were half as likely to receive warfarin and twice as likely to receive acetylsalicylic acid. Compared with men on warfarin, women on warfarin were 3.35 times more likely to experience a major bleed. Conclusions —Anticoagulants are underused in older women with AF relative to older men with AF, despite comparable risk profiles. Women receiving warfarin have a significantly higher risk of major bleeding, suggesting the need for careful monitoring of anticoagulant intensity in women.
T‐Cell lymphoblastic lymphoma presenting as bilateral multinodular breast masses: A case report and review of the literature
Authors: Efsevia Vakiani, David G. Savage, Eliza Pile‐Spellman, Mahmoud El‐Tamer, Ila R. Singh, Vundavalli S. Murty, Bachir Alobeid, Govind Bhagat
Journal: American Journal of Hematology (2005)

Abstract Non‐Hodgkin lymphoma of T‐cell lineage involving the breast is rare. We report on a 41‐year‐old woman with T‐cell lymphoblastic lymphoma who presented with multiple bilateral breast masses. The patient was treated with intensive chemotherapy and mediastinal and whole‐brain irradiation. She remains in complete remission 24 months after diagnosis. The clinical, histologic, phenotypic, and cytogenetic features are described, with a review of the literature. Am. J. Hematol. 80:216–222, 2005. © 2005 Wiley‐Liss, Inc.
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion
Authors: Gaël Ménasché, Mickaël M. Ménager, Juliette M. Lefebvre, Einat Deutsch, Rafika Athman, Nathalie Lambert, Nizar Mahlaoui, Magali Court, Jérôme Garin, Alain Fischer, Geneviève de Saint Basile
Journal: Blood (2008)
Multiple minute parakeratotic keratoses of the hands in a patient with systemic lupus erythematosus
Authors: Y-C. Lin, H-C. Chiu, M-T. Chuan
Journal: British Journal of Dermatology (2001)

Sir, A 25‐year‐old woman was diagnosed with systemic lupus erythematosus (SLE) and treated with prednisolone 80 mg day−1. The dosage was gradually tapered to 20 mg day−1 within 3 months, and then replaced by hydroxychloroquine sulphate 200 mg day−1 and prednisolone 5 mg day−1 until she consulted us with a 6‐month history of peculiar papules on the hands. These lesions had developed during the treatment with prednisolone and gradually increased in number. There was no specific symptom except mild itching. No other family members had similar skin lesions. Physical examination revealed groups of pinhead‐sized, skin‐coloured, keratotic, seed‐like pits on the dorsal and volar aspects of her hands, especially the DIP, PIP and MP joints (Fig. 1). Histopathological examination of the keratotic pits revealed epidermal depressions filled with compact, cornoid lamella‐like parakeratotic columns, under which the granular layers were markedly decreased or absent. A few dyskeratotic or vacuolated keratinocytes under the parakeratotic column were seen (Fig. 2). Between the parakeratotic columns, the epidermis was of normal thickness and pattern. The patient was treated with tretinoin cream (0·05%) twice daily, but no response was noted in 3 months.
The Metabolic Syndrome: Time for a Critical Appraisal: Joint Statement From the American Diabetes Association and the European Association for the Study of Diabetes
Authors: Bruce M. Psaty, Thomas Lumley, Curt D. Furberg
Journal: Diabetes Care (2006)

We have known for years that major cardiovascular risk factors such as obesity, high blood pressure, diabetes, and dyslipidemia tend to cluster. One of the names associated with that clustering—the metabolic syndrome—has recently become popular. The fine epidemiologic review by Kahn et al. …
Assessment of the biological performance of the needle-free injector INJEX using the isolated porcine forelimb
Authors: S. Wagner, G. Dues, D. Sawitzky, P. Frey, B. Christ
Journal: British Journal of Dermatology (2004)

The development and utilization of novel needle-free injection devices in order to minimize needle stick injuries make increasing demands for suitable assay systems, which reflect the physiological situation in humans as close as possible.It was therefore the goal of the present study to test the biological performance of a needle-free injector (INJEX) by the use of porcine skin as a model with a high predictive value for the feasibility in humans because of its close similarity to human skin.In order to use porcine skin in the context of the underlying tissues, the isolated porcine forelimb was chosen as an assay model for use with the INJEX injector. Ink or the fluorescent dye fluorescein-isothiocyanate was injected and the penetration depth was determined metrically and dye distribution histologically. To assess the resorption of heparin, needle injection was compared with needle-free injection in a perfused limb model.Increasing amounts of ink increasingly penetrated into subcutaneous tissue layers in a cone-shaped manner mainly following lead structures. Penetration was hampered by skin thickness and by the deep muscle fascia, which served as a penetration barrier. Resorption of heparin was similar irrespective of injection by the use of a needle or the INJEX device.The isolated porcine forelimb serves as a versatile tool for the assessment of the biological performance of needle-free injection devices such as INJEX. Further studies are necessary to correlate the model for drug delivery in humans.
A Test to Measure the Awareness and Expression of Anger
Authors: Richard F.H. Catchlove, Richard E.D. Braha
Journal: Psychotherapy and Psychosomatics (1985)

The purpose of this project was to develop a reliable, objective and practical tool with which the awareness and expression of anger could be investigated. This paper gives a description of the Awareness and Expression of Anger Indicator (AEAI). The AEAI is a short and easy to use test. It provides a new objective assessment instrument of value in cases where deficits in affective processes, particularly anger, are suspected. 30 medical patients were tested with the AEAI. The investigators report a high inter-rater reliability in scoring the test. Four distinct response patterns emerged. Also, when confronted with the same anger-provoking stimulus, subjects responded significantly differently with respect to whether or not they felt angry, depending on the type of question. Traditional inducing questions, e.g.: Would you feel angry?, produced significantly more affirmative responses (reports of feeling angry) than non-inducing questions, e.g.: How would you feel? The contribution of the AEAI to chronic pain work is discussed.
Risk assessment, management addressed at "Prevention 85"
Authors: M. F. Goldsmith
Journal: JAMA (1985)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Bone Mass Is Low in Relatives of Osteoporotic Patients
Authors: R A Evans, G M Marel, E K Lancaster, S Kos, M Evans, S Y Wong
Journal: Annals of Internal Medicine (1988)

Study Objective: To determine whether the failure to attain normal bone mass in young adulthood contributes to the later development of osteoporotic fractures. Design: Case-control study. Setting: Referral-based bone clinic at a large teaching hospital. Patients: Sequential sample of 35 asymptomatic relatives, aged 19 to 59 years, of patients with osteoporotic fractures, and 24 patients with osteoporotic fractures. Measurements and Main Results: Bone mineral density in the spine was measured by quantitative computed tomographic scanning. Bone mineral content in the os calcis was measured in 19 of the relatives of osteoporotic patients by single-photon absorptiometry. The values for bone mineral density in the spine were corrected to age 50 years with the regression equation derived from the normal values in the controls. The values were lower in relatives of osteoporotic patients than in controls. In men, the mean values (± standard deviation [SD]) for relatives were 91 ± 16 mg/cm3, and for controls, 129 ± 21 mg/cm3 (P < 0.001). In women, the mean values for relatives were 96 ± 17 mg/cm3 and for controls, 126 ± 19 mg/cm3 (P < 0.001). In the osteoporotic patients, the corrected mean value for men was 53 ± 12 mg/cm3, and for women, 77 ± 20 mg/cm3. The os calcis values did not correlate with the spine values and were mostly well within the normal range. Conclusions: Mean bone mass is lower in apparently healthy young and middle-aged adult relatives of osteoporotic patients than in normal persons with no family history of osteoporosis. Our findings suggest that the failure to attain an adequate peak bone mass may play an important role in the later development of osteoporotic fractures. Relatives of osteoporotic patients should be advised to have measurements of bone mass taken. This measurement should be taken at the spine, because peripheral sites do not appear to provide adequate information about early osteoporosis.
Evaluation of Unexplained Acute and Acute Recurrent Pancreatitis Using Endoscopic Retrograde Cholangiopancreatography, Sphincter of Oddi Manometry and Endoscopic Ultrasound
Authors: W. J. Coyle, B. C. Pineau, P. R. Tarnasky, W. L. Knapple, L. Aabakken, B. J. Hoffman, J. T. Cunningham, R. H. Hawes, P. B. Cotton
Journal: Endoscopy (2002)

Background and Study Aims: Unexplained pancreatitis represents a diagnostic challenge. The aim of this study was to determine the diagnostic utility of endoscopic retrograde cholangiopancreatography (ERCP) with sphincter of Oddi manometry (SOM), bile analysis, and endoscopic ultrasound (EUS) in evaluating such patients. Patients and Methods: Of 162 patients referred for evaluation of pancreatitis, 72 with a known cause were excluded. The remainder (n=90) was classified as having prior acute (n=24) or recurrent acute pancreatitis (n=66). Bile sampling and SOM were performed at the time of ERCP. EUS was used to assess for tumors and for chronic pancreatitis. Clinical outcomes were evaluated by questionnaire. Results: ERCP was successful in 88/89 patients (99 %). Manometry was successful in 63/67 patients (94 %), and 56 patients underwent EUS. Findings were categorized into five distinct etiologies: sphincter of Oddi dysfunction (SOD) (n=28; 31 %), pancreas divisum (n=18; 20 %), biliary (n=18; 20 %), idiopathic (n=18; 20 %) and tumor-related (n=8; 9 %). Features of moderate or severe chronic pancreatitis by EUS and ERCP criteria were found in 18 patients (21 %); an additional nine patients had chronic pancreatitis by EUS criteria alone. EUS identified all the tumors. The condition was improved in 96 % of all patients undergoing endoscopic therapy. Conclusion: An etiology was identified in the majority of patients with unexplained pancreatitis. SOD represented the most common finding. Moderate to severe chronic pancreatitis was found in over one-fifth of these patients. Bile analysis, SOM, and EUS are useful tools in the evaluation of unexplained acute pancreatitis.
Acute Leukemia
Authors: Jack J. Rheingold
Journal: JAMA (1974)

... and I awakened in the morning, burning up with fever. My gums were sore and bleeding and I was covered with huge black and blue marks. I was so weak I could hardly get out of bed. Doctor, it all began last Thursday morning. THE diagnosis was acute leukemia and this is how the disease appeared to begin. But, of course, it didn't start last Thursday, or Tuesday a week ago, or indeed any specific day, for leukemia in most instances probably begins insidiously and may be present for weeks, months, or even years before it becomes apparent to the patient and then to the physician. Many factors influence this: the tolerance of the patient for his symptoms, his medical sophistication and that of the community, the alertness of the physician, and other reasons. <h3>Indolent Nature of Acute Leukemia</h3> It is our premise that most, if not all, acute leukemia
Male circumcision is not a panacea for HIV prevention
Authors: J. Clark
Journal: BMJ (2006)

Male circumcision was a hot topic at the 16th international conference on AIDS, on 13-18 August, in Toronto, accompanied by passionate debate on both sides.

Delegates heard from scientists that new HIV infections in men could be substantially reduced and million of lives saved if male circumcision were to be introduced. Critics argued that male circumcision will not be the quick fix for HIV prevention unless cultural beliefs are included …
Renal tubular function affects glycosuria-related urinary excretion of 1,5-anhydroglucitol.
Authors: T Fujisawa, H Ikegami, T Tsutsui, Y Kawaguchi, H Ueda, M Shintani, K Nojima, Y Kawabata, M Ono, M Nishino, S Noso, K Yamada, N Babaya, T Ogihara
Journal: Diabetes Care (1999)
Susceptibility to Radiation-Induced Leukemia?
Authors: Brian MacMahon
Journal: New England Journal of Medicine (1972)

How much, if at all, is leukemia risk in human beings increased by exposure to low levels of ionizing radiation? This question remains unanswered, and the controversy that it arouses generates great heat both in scientific and in lay forums. As nuclear power, supersonic transport and other programs develop, the question assumes increasing importance, but the data that would answer it are not forthcoming.One of the few pieces of relevant information on human beings is the fact that exposure in utero to the low dose levels delivered by diagnostic x-rays of the maternal abdomen or pelvis are associated with . . .
Vascular Endothelial Growth Factor -- Its Role in Retinal Vascular Proliferation
Authors: Robert N. Frank
Journal: New England Journal of Medicine (1994)

The blood vessels of the human retina do not normally grow after birth. All postnatal neovascularization in this tissue is therefore pathologic, arising as a complication of diseases such as diabetes, sickle cell disease, and retinal-vein occlusion. The new vessels lack the barrier function of the normal retinal circulation and permit extravascular leakage of blood components. Because of their extremely thin endothelium, these vessels are fragile and can easily rupture, causing hemorrhage into the vitreous cavity. New retinal vessels are surrounded by fibroblasts or glial cells that may proliferate extensively as the disease progresses. The tough, contractile bands and membranes . . .
A labor perspective on workplace reproductive hazards: past history, current concerns, and positive directions.
Authors: T Graham, N Lessin, F Mirer
Journal: Environmental Health Perspectives (1993)

The Supreme Court's March 1991 ruling in United Automobile Workers (UAW) versus Johnson Controls barring corporate "fetal protection policies" was a major victory for women's employment rights and has health and safety implications for both sexes. However, 2 years after the Court's decision, the union's work is far from over. The UAW has yet to see what policy Johnson Controls will implement in place of the old one. Formulating solutions to the concerns of workers who are exposed daily to reproductive health hazards on the job will continue to be on labor's agenda. Preventing hazardous exposures is the first priority. This goal would be furthered by setting occupational health and safety standards designed to protect workers' general and reproductive health. Support for the Comprehensive Occupational Safety and Health Reform Act (COSHRA) would also positively affect health and safety in the workplace. Where hazards have not yet been abated, the framework of transfers and income protections for all workers with temporary job restrictions should be examined. The Legal/Labor Working Group convened at the Occupational and Environmental Reproductive Hazards Working Conference authored guidelines for developing a model reproductive hazards policy. These recommendations can serve as a guide for implementation of nondiscriminatory and health-protective policies by employers.
JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model
Authors: T. Mercher, G. Wernig, S. A. Moore, R. L. Levine, T.-L. Gu, S. Frohling, D. Cullen, R. D. Polakiewicz, O. A. Bernard, T. J. Boggon, B. H. Lee, D. G. Gilliland
Journal: Blood (2006)