tbuckley/cabot-search huggingface dataset:
'Fragile' X chromosome: major link to mental retardation
Authors: Gail McBride
Journal: JAMA (1981)

Evidence continues to mount that from one third to one half of all X-chromosome-linked mental retardation in kindreds is associated with the so-called fragile X chromosome (<i>JAMA</i>[MEDICAL NEWS] 1979; 242:1829-1830). This makes the defect "the second most common clearly defined cause of mental retardation after Down's syndrome," says Park S. Gerald, MD, professor of pediatrics at Harvard Medical School, Boston, and chief of the division of clinical genetics at Boston's Children's Hospital Medical Center. Gerald also believes that because of the implications for genetic counseling, there should be no failure to do the cytogenetic search for the defect in suspicious cases. However, there are isolated reports that the fragile X chromosome has been found in a few males who are not mentally retarded. In several ways, the story raises almost more questions than it answers. A fragile X chromosome is essentially normal in appearance except that one or both
New Virus Linked to Prostate Cancer
Authors: Tracy Hampton
Journal: JAMA (2006)

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
Bran tablets and diverticular disease.
Authors: I Taylor, H L Duthie
Journal: BMJ (1976)

Three treatments for patients with symptomatic diverticular disease were compared in a crossover trial. Neither a high-roughage diet (HRD) nor Normacol plus an antispasmodic were as effective as bran tablets, which produced a significant increase in daily stool weight and a decrease in the intestinal transit time. An abnormal rapid electrical rhythm in colonic smooth muscle was found initially in 80% of the patients, but the incidence was reduced by each treatment after one month; it was present in only 40% of patients after treatment with bran tablets. Only bran significantly reduced a high percentage motility to within normal limits. Bran proved to be the most effective treatment, not only in improving the symptoms in patients with diverticular disease but also in returning to normal the abnormal pathophysiological changes. Bran tablets were both convenient and acceptable as well as effective.
Calcium/calmodulin-mediated action of calcitonin on lipid metabolism in rats.
Authors: Y Nishizawa, Y Okui, M Inaba, S Okuno, K Yukioka, T Miki, Y Watanabe, H Morii
Journal: Journal of Clinical Investigation (1988)

The effects of calcitonin on lipid metabolism were investigated in three kinds of rats, one strain of rabbits, and a primary culture of rat hepatocytes. In a short-term experiment, calcitonin decreased serum cholesterol and triglycerides after injection in rats on either an ordinary or high-fat diet. In a long-term experiment, calcitonin decreased the serum cholesterol and triglycerides in uremic rats, hypothalamic obese rats, and Watanabe-heritable hyperlipidemic rabbits. In cultured hepatocytes, calcitonin reduced the incorporation of [14C]acetate into cholesterol and triglycerides in a dose-dependent way. Treatment with W7, a calmodulin inhibitor, overcame the decrease caused by calcitonin in serum lipids in rats and in the synthesis of triglycerides from acetate or palmitate in the hepatocytes, but did not alter the intracellular cAMP level or incorporation of [32P]Pi into PI in the cells. The results suggest that calcitonin lowers serum lipid levels and lipogenesis in hepatocytes in a calcium/calmodulin-dependent way.
291 Hemodynamic response to beta-blockers and prediction of clinical efficacy in the primary prophylaxis of variceal bleeding in patients with cirrhosis
Authors: C ARACIL, J LOPEZBALAGUER, D MONFORT, M PIQUERAS, B GONZALEZ, J MINAND, X TORRAS, C VILLANUEVA, J BALANZO
Journal: Hepatology (2003)

We evaluated the ability of human embryonic stem cells (hESCs) and their cardiomyocyte derivatives (hESC-CMs) to engraft and improve myocardial performance in the rat chronic infarction model.Cell therapy is emerging as a novel therapy for myocardial repair but is hampered by the lack of sources for human cardiomyocytes.Immunosuppressed healthy and infarcted (7 to 10 days after coronary ligation) rat hearts were randomized to injection of undifferentiated hESCs, hESC-CMs, noncardiomyocyte hESC derivatives, or saline. Detailed histological analysis and sequential echocardiography were used to determine the structural and functional consequences of cell grafting.Transplantation of undifferentiated hESCs resulted in the formation of teratoma-like structures. This phenomenon was prevented by grafting of ex vivo pre-differentiated hESC-CMs. The grafted cardiomyocytes survived, proliferated, matured, aligned, and formed gap junctions with host cardiac tissue. Functionally, animals injected with saline or nonmyocyte hESC derivatives demonstrated significant left ventricular (LV) dilatation and functional deterioration, whereas grafting of hESC-CMs attenuated this remodeling process. Hence, post-injury baseline fractional shortening deteriorated by 50% (from 20 ± 2% to 10 ± 2%) and by 30% (20 ± 2% to 14 ± 2%) in the saline and nonmyocyte groups while improving by 22% (21 ± 2% to 25 ± 3%) in the hESC-CM group. Similarly, wall motion score index and LV diastolic dimensions were significantly lower in the hESC-CM animals.Transplantation of hESC-CMs after extensive myocardial infarction in rats results in the formation of stable cardiomyocyte grafts, attenuation of the remodeling process, and functional benefit. These findings highlight the potential of hESCs for myocardial cell therapy strategies.
Familial Neonatal Transient Hypothyroidism Due to Maternal TSH-Binding Inhibitor Immunoglobulins
Authors: Nobuo Matsuura, Yutaka Yamada, Yachiyo Nohara, Junji Konishi, Kanji Kasagi, Keigo Endo, Hironori Kojima, Kazuo Wataya
Journal: New England Journal of Medicine (1980)

IN 1960, Sutherland et al.1 reported on children with familial nongoitrous cretinism born of a hypothyroid mother with Hashimoto's disease. Subsequently, Goldsmith et al.2 studied this family in detail and concluded that the transplacental transfer of an unidentified thyrosuppressive factor or factors might have caused congenital thyroid suppression (partially reversible) in all six siblings. Neither the mechanism of this suppression, nor the nature of the thyrosuppressive factor, however, was clarified. In this paper, we describe two siblings with congenital transient hypothyroidism and a hypothyroid mother with Hashimoto's disease. Immunoglobulins that inhibited binding of thyroid-stimulating hormone (TSH)3 and did not contain . . .
Comparison of adverse events associated with use of mefloquine and combination of chloroquine and proguanil as antimalarial prophylaxis: postal and telephone survey of travellers
Authors: P J Barrett, P D Emmins, P D Clarke, D J Bradley
Journal: BMJ (1996)

<h3>Abstract</h3> <b>Objective</b>: To compare the frequency of adverse events, particularly neuropsychiatric effects, from mefloquine and from chloroquine plus proguanil as used for malaria chemoprophylaxis. <b>Design</b>: Retrospective questionnaire to travellers taking either regimen between November 1993 and February 1995; telephone interview with those reporting pronounced side effects. <b>Setting</b>: Travellers from Britain who consulted an advisory helpline. <b>Subjects</b>: 1214 adults taking mefloquine and 1181 taking chloroquine plus proguanil. <b>Main outcome measures</b>: Reported presence of and degree of disability from 12 neuropsychiatric and other symptoms, as assessed by the subjects and by referees and on the basis of behaviour change. <b>Results</b>: There were equal rates of any side effects (40%) and of stopping or changing medication. Overall, neuropsychiatric adverse events were significantly more common in travellers taking mefloquine. In all, 333 neuropsychiatric adverse events were reported by 1214 travellers taking mefloquine, compared with 189 such events in 1181 travellers taking proguanil plus chloroquine (P&lt;0.001). In all, 0.7% of travellers taking mefloquine had disabling neuropsychiatric adverse effects, compared with 0.09% of those taking proguanil plus chloroquine (P = 0.021). Two travellers taking mefloquine (1 in 607) were admitted to hospital as a result of the adverse event, compared with 1 in 1181 travellers taking proguanil plus chloroquine. <b>Conclusion</b>: There is a significant excess of adverse neuropsychiatric events of intermediate degrees of severity associated with the use of mefloquine compared with proguanil plus chloroquine. This finding may also explain the discrepant findings between earlier studies and clinical experience. <h3>Key messages</h3> This study shows that about 40% of travellers taking either mefloquine or chloroquine and proguanil can expect to experience some sort of adverse side effect, although most side effects will be relatively trivial About 0.7% (1 in 140) travellers taking mefloquine can expect to have a neu-ropsychiatric adverse event unpleasant enough to temporarily prevent them from carrying out their day to day activities, compared with 0.09% (1 in 1100) taking chloroquine and proguanil Mefloquine is appropriate only when the risk is high both of malaria and of chloroquine resistance
Functional human IgE specific for <i>Dermatophagoides farinae</i> antigen is produced in SCID mice reconstituted with peripheral mononuclear cells derived from healthy persons and patients with asthma
Authors: T. Noma, I. Yoshizawa, Y. Kawano, N. Matsuura, T. Nakajima, K. Aoki
Journal: Allergy (2001)

Background: Whether normal peripheral blood mononuclear cells (PBMCs) transferred to severe combined immunodeficient (SCID) mice produce specific IgE remains unclear. Methods: Mice received injections of Dermatophagoides farinae antigen (Df)‐stimulated PBMCs from healthy persons (IgE RAST score of 0). Results: High titers of Df‐specific IgE were detected. The Df‐specific IgE activity produced was comparable to or higher than that produced by cells from patients with asthma although the time to maximal production was longer. IgE derived from PMBCs of healthy persons or patients with asthma induced histamine release from cultured human basophils that had been stimulated with Df antigen or an anti‐IgE antibody. Treatment of Df‐stimulated PBMCs with a high dose, but not a low dose, of interleukin‐4 stimulated production of Df‐specific IgE by PMBCs from healthy persons or patients with asthma. In contrast, intravenous injection of IFN‐γ into reconstituted SCID mice decreased Df‐specific IgE production by PBMCs from patients with asthma. In PMBCs from healthy persons, IgE class‐switching may occur later and block the effects of treatment with IFN‐γ. Conclusions: PBMCs from healthy persons and persons with asthma have clones reactive to allergen and produce functional IgE specific for relevant antigens in mite‐sensitive bronchial asthma.
The immobilization of recombinant human tropoelastin on metals using a plasma-activated coating to improve the biocompatibility of coronary stents
Authors: Anna Waterhouse, Yongbai Yin, Steven G. Wise, Daniel V. Bax, David R. McKenzie, Marcela M.M. Bilek, Anthony S. Weiss, Martin K.C. Ng
Journal: Biomaterials (2010)
Phase 1b study of pegylated interferon lambda 1 with or without ribavirin in patients with chronic genotype 1 hepatitis C virus infection
Authors: Andrew J. Muir, Mitchell L. Shiffman, Atif Zaman, Boris Yoffe, Andrew de la Torre, Steven Flamm, Stuart C. Gordon, Paul Marotta, John M. Vierling, Juan Carlos Lopez-Talavera, Kelly Byrnes-Blake, David Fontana, Jeremy Freeman, Todd Gray, Diana Hausman, Naomi N. Hunder, Eric Lawitz
Journal: Hepatology (2010)

Abstract Interferon lambda 1 (IFN-λ1) is a type III IFN that produces intracellular responses similar to those of IFN-α but in fewer cell types because of differences in the receptor distribution pattern, and this could potentially result in an improved safety profile. This was an open-label three-part study of patients with chronic hepatitis C virus (HCV) genotype 1 infection. Part 1 evaluated single-agent pegylated interferon lambda (PEG-IFN-λ) at 1.5 or 3.0 μg/kg administered every 2 weeks or weekly for 4 weeks in patients who had relapsed after previous IFN-α-based treatment. Part 2 evaluated weekly doses of PEG-IFN-λ ranging from 0.5 to 2.25 μg/kg in combination with ribavirin (RBV) for 4 weeks in treatment-relapse patients. Part 3 evaluated weekly PEG-IFN-λ at 1.5 μg/kg in combination with RBV for 4 weeks in treatment-naive patients. Fifty-six patients were enrolled: 24 patients in part 1, 25 patients in part 2, and 7 patients in part 3. Antiviral activity was observed at all PEG-IFN-λ dose levels (from 0.5 to 3.0 μg/kg). Two of seven treatment-naive patients (29%) achieved rapid virological response. Treatment was well tolerated with minimal flu-like symptoms and no significant hematologic changes other than RBV-associated decreases in hemoglobin. The most common adverse events were fatigue (29%), nausea (12%), and myalgia (11%). Six patients experienced increases in aminotransferases that met protocol-defined criteria for dose-limiting toxicity (DLT) or temporarily holding therapy with PEG-IFN-λ. Most DLT occurred in patients with high PEG-IFN-λ exposure. Conclusion: Weekly PEG-IFN-λ with or without daily RBV for 4 weeks is well tolerated with minimal adverse events and hematologic effects and is associated with clear antiviral activity across a broad range of doses in patients with chronic HCV.
Nocturia Frequency, Bother, and Quality of Life: How Often Is Too Often? A Population-Based Study in Finland
Authors: Kari A.O. Tikkinen, Theodore M. Johnson, Teuvo L.J. Tammela, Harri Sintonen, Jari Haukka, Heini Huhtala, Anssi Auvinen
Journal: European Urology (2009)
UNILATERAL CHOKED DISK DUE TO CHRONIC TONSILLAR INFECTION
Authors: GEORGE WILSON
Journal: JAMA (1933)

The occurrence of choked disk (papilledema) is in the vast majority of cases, probably 90 per cent, due to cerebral neoplasm. Unilateral choking of a disk may also be found in a patient harboring a brain tumor, although as a rule involvement of the other disk soon occurs. However, two recent cases of brain tumor which have come under our observation and which were situated at the base of the right frontal lobe showed unilateral choking of the right disk of 5 and 4 diopters, respectively; the left disk in both cases was normal. When one is confronted with a case showing unilateral or bilateral choking of the disks, the initial and most important step is to rule out brain tumor; when that has been done as completely as possible, search must be made for the more uncommon causes, such as acute and chronic infections, toxemias, certain diseases of unknown
CASE OF OBSTRUCTION TO LABOUR CAUSED BY A FIBROUS BAND WITHIN THE VAGINA
Authors: W. Moxon
Journal: BMJ (1856)

tht you have cured imnsne pesons by the influence of MesmerIsm? A. I haoe-Q.What is your deition of a delusion?A. A belief in that which does not exist.-Q.You thinkl that is a perfect definition of a delusion I A. No, who had been in labour since 11 o'clock that mog.On my arrival at the residence of my patient, I sined that she had had two children, and that at her last con- finement she was attendeA by a midwife.I was likewise informed that she had, after her.last labour, been troubled with an offensive discharge from the vagn for seval
Abstract P5-05-06: Menopausal status: An important consideration in determining the biology and prognosis of estrogen receptor-positive and progesterone receptor-negative breast cancer
Authors: M Fujisue, R Nishimura, M Nakano, R Tashima, Y Nishiyama, T Osako, Y Toyozumi, N Arima
Journal: Cancer Research (2013)

Abstract Background: Transcription of the progesterone receptor (PgR) gene is regulated by estrogen in the breast tissue. PgR loss is considered to be a result in the reduction of estrogen receptor (ER) activity, due to either low circulating estrogen in some older women or a high growth factor signaling. Among the ER-positive breast cancer patients, PR-negative cases frequently have a higher resistance to endocrine therapy, and have a poorer prognosis. Therefore, we examined the clinical significance of ER+/PgR- tumors in luminal/HER2 negative breast cancer and its relationship to menopausal status. Methods: The sample for this study came from 1791 consecutive patients with HER2 negative primary breast cancer from January 2002 to March 2013. The ER and PgR expressions were evaluated using immunohistochemistry (IHC). 1586cases had ER+/PgR+ tumor, 205cases had ER+/PgR- tumor. The items examined were nuclear grade, Ki-67 index value, TP53, tumor size and number of lymph node involvement. The Ki-67 index value and TP53 were evaluated using IHC and the cut-off values were 20% and 50%, respectively. Recurrence free survival (RFS) and breast cancer-specific survival (BCSS) was calculated using the Kaplan-Meier method and evaluated by the log-rank test or generalized Wicoxon test in stage 1 and 2 breast cancer. Results: In terms of the distribution of ER and PgR status, ER+/PgR- were frequently seen in postmenopausal patients (13.7% vs 6.8%, respectively). Patients with ER+/PgR-and HER2 negative tumors had significantly smaller tumors, lower Ki-67 values, and a lower nuclear grade in the postmenopausal group compared with those in the premenopausal group. Moreover, RFS trended to be better in the postmenopausal group (p = 0.06), but there was no significant difference. BCSS was significantly higher in the postmenopausal cases (p = 0.001). On the other hand, in patients with ER+/PgR+ tumors, there was no significant difference in RFS and BCSS between the post- and pre-menopausal groups. Conclusion: The ER+/PgR- tumors were more commonly seen in postmenopausal patients. The biological characteristics of ER+/PgR- tumors were significantly different in terms of the Ki-67 index value, nuclear grade, and the prognosis (BCSS and RFS) between pre- and postmenopausal status. Moreover, the postmenopausal group had a more favorable biology and prognosis than the premenopausal group. Therefore, the findings in this study indicate that menopausal status is related to the biology and prognosis in patients with ER+/PgR- tumors. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P5-05-06.
1180 ALT flares in patients with HBEAG-positive chronic hepatitis B and treated with either conventional interferon alfa-2A or peginterferon alfa-2A (40KD) (PEGASYS®) are not necessary for a significant response to therapy
Authors: W GRAHAM, E COOKSLEY, M LAI, T PIRATVISUTH, Y WANG, V MAHACHAI, Y CHAO, T TANWANDEE, A CHUTAPUTTI, W CHANG
Journal: Hepatology (2003)
P3-104: Epidermal growth factor receptor (EGFR) gene mutational status and response to gefitinib in patients with non–small cell lung cancer: A prospective study
Authors: Kazuma Kishi, Takeshi Fujii, Takako Fukawa, Hisashi Takaya, Atsushi Miyamoto, Kunihiko Yoshimura
Journal: Journal of Thoracic Oncology (2007)
Patterning human stem cells and endothelial cells with laser printing for cardiac regeneration
Authors: Ralf Gaebel, Nan Ma, Jun Liu, Jianjun Guan, Lothar Koch, Christian Klopsch, Martin Gruene, Anita Toelk, Weiwei Wang, Peter Mark, Feng Wang, Boris Chichkov, Wenzhong Li, Gustav Steinhoff
Journal: Biomaterials (2011)
Diagnosis of Autoimmune Pancreatitis: The Mayo Clinic Experience
Authors: Suresh T. Chari, Thomas C. Smyrk, Michael J. Levy, Mark D. Topazian, Naoki Takahashi, Lizhi Zhang, Jonathan E. Clain, Randall K. Pearson, Bret T. Petersen, Santhi Swaroop Vege
Journal: Clinical Gastroenterology and Hepatology (2006)
Case 56-1965
Authors: Richard A. Field, Richard B. Cohen
Journal: New England Journal of Medicine (1965)

Presentation of Case First admission. A sixty-six-year-old woman entered the hospital because of hepatic enlargement.Ten years previously she was found to have hyperglycemia, without glycosuria, but no treatment was advised. During the five years before admission brownish pigmentation appeared over the lower extremities. Weakness developed during the year before entry, and three months before admission enlargement of the liver was observed.From five to twenty years of age the patient had taken iron pills because of "anemia." There was no history of excessive ingestion of alcohol, jaundice or the passage of light stools or dark urine. A brother had . . .
Afghanistan needs security to rebuild its health services
Authors: T. Richards
Journal: BMJ (2002)

Large scale emergency, reconstruction, and development aid is needed to rebuild Afghanistan's devastated infrastructure. All sectors, not least the health sector, need massive external support and they need it now, Kieran Prendergast, undersecretary of political affairs at the United Nations, told a meeting of the World Economic Forum in New York last week.

Afghanistan's health statistics are among the worst in the world. Large numbers of people are dying from preventable diseases, and the World Health Organization estimates that six million people have little or no access to medical care. Only about 1 in 4 people has access to clean water.

Hospitals and health centres are denuded of staff, equipment, power, and medicines. For a population of about 23 million people there are only about 17500 health professionals. A quarter of the doctors are in Kabul, where only 7% of the population live. By World Health Organization standards a minimum of 63000 health workers are needed to provide a basic essential service.

The Afghan government lacks the money to pay even basic costs and salaries, and re-establishing a viable health system will take …
Evidence for Overturning the Guidelines in Cardiogenic Shock
Authors: Christopher M. O'Connor, Joseph G. Rogers
Journal: New England Journal of Medicine (2012)

Cardiogenic shock complicating acute myocardial infarction continues to be a devastating event associated with extremely high mortality. The results of the Intraaortic Balloon Pump in Cardiogenic Shock II (IABP-SHOCK II) trial,1 now reported in the Journal, show that in patients with acute myocardial infarction and hemodynamic compromise who undergo revascularization, the routine use of an intraaortic balloon pump (IABP), as compared with standard therapy, does not improve survival.1 Introduced nearly five decades ago,2 IABP is now routinely used as an adjuvant treatment for myocardial infarction complicated by cardiogenic shock, on the basis of evidence that it is associated with hemodynamic . . .
Multi-sensory processing facilitates perception but direct perception of global invariants remains unproven
Authors: Lawrence Warwick-Evans
Journal: Behavioral and Brain Sciences (2004)

The existence of sensory convergence does not establish that the senses function as a single unified perceptual system. Reality is fully specified only by a one:many mapping onto the totality of energy arrays, and these provide alternative frames of reference for movement. It is therefore possible that higher order crossmodal relationships are detected by skilled perceivers, but this has not been confirmed empirically.