tbuckley/cabot-search huggingface dataset:
How to identify the genetic basis of gastrointestinal and liver diseases?
Authors: P Ferenci
Journal: Gut (2003)

New insights into the genetic basis of disease are being generated at an ever increasing rate. This explosion of information was ignited by technological advances, such as the polymerase chain reaction and automated DNA sequencing. Although its promise is great, the integration of genetics into the everyday practice of medicine remains challenging. This review discusses the application of molecular genetics in general with a specific focus on hereditary diseases of the digestive organs. The application of molecular genetics in everyday clinical routine is hampered by the difficult interpretation of test results. These difficulties include the prediction of disease penetrance, the presence of multiple mutations of a particular gene with varying functional consequences, and the importance of exogenous factors modulating disease expression. To date, the most significant impact of genetics has been to increase our understanding of disease aetiology and pathogenesis and to reliably identify siblings of affected patients with the risk to develop symptomatic disease.
Case-control study of severe pre-eclampsia of early onset.
Authors: M P Moore, C W Redman
Journal: BMJ (1983)

Twenty four women with severe pre-eclampsia diagnosed before 34 weeks' gestation were compared with 48 randomly selected controls matched for age and parity. Subjects were studied in the puerperium using a questionnaire, clinical examination, and review of case records. A history of infertility, headaches (particularly migraine), pre-eclampsia in a previous pregnancy, or a raised serum alpha-fetoprotein concentration at the time of screening for neural tube defect in the index pregnancy were all identified as significant risk factors in the pre-eclamptic women. Maternal age, a history of chronic hypertension or renal disease, or excessive maternal weight were not significantly associated with pre-eclampsia. Almost all the infants of pre-eclamptic women showed retarded growth: 18 were below the 10th centile and only one weighed more than the 25th centile. Four babies died. These observations indicate that pre-eclampsia of early onset may differ from the late onset disease not only in its very high perinatal morbidity and mortality but in its distinctive maternal risk factors.
Differential effects of insulin deficiency on albumin and fibrinogen synthesis in humans.
Authors: P De Feo, M G Gaisano, M W Haymond
Journal: Journal of Clinical Investigation (1991)

Insulin deficiency decreases tissue protein synthesis, albumin mRNA concentration, and albumin synthesis in rats. In contrast, insulin deficiency does not change, or, paradoxically, increases estimates of whole body protein synthesis in humans. To determine if such estimates of whole body protein synthesis could obscure potential differential effects of insulin on the synthetic rates of individual proteins, we determined whole body protein synthesis and albumin and fibrinogen fractional synthetic rates using 5-h simultaneous infusions of [14C]leucine and [13C]bicarbonate, in six type 1 diabetics during a continuous i.v. insulin infusion (to maintain euglycemia) and after short-term insulin withdrawal (12 +/- 2 h). Insulin withdrawal increased (P less than 0.03) whole body proteolysis by approximately 35% and leucine oxidation by approximately 100%, but did not change 13CO2 recovery from NaH13CO3 or estimates of whole body protein synthesis (P = 0.21). Insulin deficiency was associated with a 29% decrease (P less than 0.03) in the albumin fractional synthetic rate but a 50% increase (P less than 0.03) in that of fibrinogen. These data provide strong evidence that albumin synthesis in humans is an insulin-sensitive process, a conclusion consistent with observations in rats. The increase in fibrinogen synthesis during insulin deficiency most likely reflects an acute phase protein response due to metabolic stress. These data suggest that the absence of changes in whole body protein synthesis after insulin withdrawal is the result of the summation of differential effects of insulin deficiency on the synthesis of specific body proteins.
Selective inhibition of NF-κB blocks osteoclastogenesis and prevents inflammatory bone destruction in vivo
Authors: Eijiro Jimi, Kazuhiro Aoki, Hiroaki Saito, Fulvio D'Acquisto, Michael J May, Ichiro Nakamura, Testuo Sudo, Takefumi Kojima, Fujio Okamoto, Hidefumi Fukushima, Koji Okabe, Keiichi Ohya, Sankar Ghosh
Journal: Nature Medicine (2004)
US couple files malpractice lawsuit against doctor for embryo mix up
Authors: S. Gottlieb
Journal: BMJ (1999)

A white couple from New York has filed a malpractice lawsuit against a doctor they allege was responsible for an embryo mix up during in vitro fertilisation that resulted in the woman giving birth to a black baby when she delivered twins.

The couple, who gave birth to their own white baby at the same time, allege that their doctor, Lillian Nash of New York, was wilfully negligent when she mistakenly implanted the embryo of a black couple from Teaneck, …
Immunodiffusion Techniques in Clinical Medicine
Authors: Kingdon Lou
Journal: JAMA (1967)

A variety of abnormalities in serum protein may be seen in patients afflicted with different diseases. Most of these changes are nonspecific and serve only as indicators of the existence of a pathologic state. Changes may be due to the presence of an anomalous protein in the serum or a significant variation in the concentration of a normal component. Because of the high resolution and specificity, immunodiffusion techniques serve as ideal analytical tools for studies of serum-protein changes. The<i>single diffusion</i>technique was developed by Oudin in 1946. He showed that when antigen was layered over an agar antiserum mixture in a tube, the precipitin band formed is directly related to the concentration and the diffusion coefficient of the antigen, and inversely proportional to the concentration of the antibody. Following these observations,<i>double diffusion</i>techniques were developed independently by Ouchterlony and Elek. Here the antigen and the antibody are allowed
Persistent hypoplasia of the lung after repair of congenital diaphragmatic hernia.
Authors: A Hislop, L Reid
Journal: Thorax (1976)

Quantitative analysis has been used to assess growth in a lung from an infant aged 21/2 months in whom a diaphragmatic hernia was repaired at birth. The lungs had been abnormally small at birth but at 21/2 months were of normal volume. Alveoli had multiplied at the normal rate after birth but had not reached the number normal of age. The number per acinus was normal but the alveoli were increased in size, particularly in the left lung. The airway number, and thus alveolar, acinar, and arterial number, were all reduced in both lungs, the ipsilateral being most affected. The pulmonary blood vessels in both lungs showed an increased muscularity that did not correlate with lung volume or alveolar number, a feature that may have been present at birth. The degrees of hypoplasia in the two lungs were different at birth and this difference had been maintained. The effect of the disturbance to lung growth on the functioning of the lung is discussed.
Cathelicidin antimicrobial peptide <scp>LL</scp> ‐37 augments interferon‐β expression and antiviral activity induced by double‐stranded <scp>RNA</scp> in keratinocytes
Authors: T. Takiguchi, S. Morizane, T. Yamamoto, A. Kajita, K. Ikeda, K. Iwatsuki
Journal: British Journal of Dermatology (2014)

Background Cathelicidin antimicrobial peptide LL-37 has the capacity to kill a wide range of microbes and to modify host immunity. Recently, our group observed that the activation of keratinocytes by LL-37 and DNA greatly increases interferon (IFN)-β through Toll-like receptor (TLR)9. However, the effect of LL-37 on the induction of IFN-β through TLR3, a sensor of double-stranded (ds) RNA, in keratinocytes is not well known. Objectives To investigate whether LL-37 could affect TLR3 signalling and antiviral activity in normal human epidermal keratinocytes (NHEKs). Methods We investigated the production of IFN-β in NHEKs stimulated with a TLR3 ligand, poly (I:C), in the presence of LL-37. To examine the effect of LL-37 and poly (I:C) on antiviral activity, a virus plaque assay using herpes simplex (HS) virus type-1 was carried out. The uptake of poly (I:C) conjugated with fluorescein isothiocyanate (FITC) into the keratinocytes was observed in the presence of LL-37. Immunostaining for TLR3 and LL-37 was performed using skin samples from HS. Results LL-37 and poly (I:C) synergistically induced the expression of IFN-β in NHEKs. Furthermore, co-stimulation with LL-37 and poly (I:C) significantly decreased the viral plaque numbers compared with poly (I:C) or LL-37 alone. LL-37 enhanced the uptake of FITC-conjugated poly (I:C) into cells. Immunohistochemical analysis demonstrated that the expression of TLR3 and LL-37 is upregulated in HS lesions. Conclusions Our findings suggest that LL-37 augments the antiviral activity induced by dsRNA in keratinocytes, which may contribute to the innate immune response to cutaneous viral infections such as HS.
Descemet's Stripping Automated Endothelial Keratoplasty Outcomes Compared with Penetrating Keratoplasty from the Cornea Donor Study
Authors: Marianne O. Price, Mark Gorovoy, Beth A. Benetz, Francis W. Price, Harry J. Menegay, Sara M. Debanne, Jonathan H. Lass
Journal: Ophthalmology (2010)
Psoriatic arthritis and anti-nuclear factor
Authors: JOHN R. LAMBERT, GUTHRIE SCOTT, VERNA WRIGHT
Journal: British Journal of Dermatology (1977)

Positive tests for anti-nuclear factor were found in 7% of 101 patients with psoriatic arthritis. In only one case was this at a significantly high titre. The overall prevalence is that expected in the community, though there was a high prevalence in those with Sjögren's syndrome. This is a further differentiating feature from rheumatoid arthritis.
Impact of exercise training and/or diet on the lipoprotein-lipid profiles in young overweight women
Authors: L Sabbaghian Rad, M Gholami
Journal: British Journal of Sports Medicine (2010)

This study examined the independent and combined effects of exercise training, weight loss and changes in dietary quality on the serum lipid profile in sedentary, healthy and overweight young women. 83 women 18-25 years with body mass index&gt;25 were randomly assigned to four groups, control (C), diet (D), exercise (E) and exercise and diet (ED). Height, weight, per cent body fat (BF%), TC, HDL-C, TG and LDL-C were measured before and after an 8-week intervention period. Subjects in the two exercise groups walked five times a week, 45 min per session, at 60%-80% of maximum heart rate (MHR). Duration and intensity of exercise were gradually increased over a 3-week period from 25 to 30 min/sessions at 60%-65% of MHR during week 1 to 45 min at 70% to 80% MHR from weeks 4 through 8. Subjects in the two nonwalking groups (C and D) reported to the exercise facility 5 days per week for 45 min of stretching and mild range of motion calisthenics. The intent was to keep heart rate below 100 beats per minute. One-way ANOVA was the statistical test (α=0.05). Relative to control group, the ED and D groups displayed a 4.2% and 4.1% reduction in body mass, 9% and 7% reduction in BF%, 29% and 26% reduction in TG. LDL-C fell by 12% in ED group. For each kg of weight loss there was a decrease of 0.05, 0.02 and 0.015 mg/dl in TC, LDL-C and TG respectively. No change of body mass occurred in E group. Exercise alone was insufficient to stimulate change in any lipid or lipoprotein measures. These results demonstrated that weight loss mostly was due to diet, because the exercise was the same in groups E and ED. The lipid profile improved and body mass decreased.
Pathology of the Kidney
Authors: Lawrence J. McCormack
Journal: JAMA (1975)

The burgeoning size of the second edition of this important work in renal disease attests to the major developments in the study of these disorders in the last decade. Extensive new knowledge has become available through the use of immunological procedures and through the use of the electron microscope during this interval. (Alas! Resolution of the etiologies and resolution of the methods of treatment have not kept pace.) The utilization of occasional guest essayists enhances the quality of the book and in no way detracts from the extraordinary efforts of Dr. Heptinstall in producing such a work. Both he and the publisher are to be congratulated in utilizing sufficient print to expose adequately the problem discussed. The text is very well done and the illustrative material is excellent. A part of the increase in size is due to the extensive addition of the electron microscopic photographs. Some might find fault
Hallucinations: Behavior, Experience, and Theory
Authors: Nancy C. Andreasen
Journal: JAMA (1976)

The title of this book is misleading. The subject is not so much hallucinations as it is hallucinogenic drugs, visions and visionary experiences, creativity, and cultural anthropology. The psychiatrist who reads this book to learn more about the hallucinations of psychotic patients (usually auditory, haptic, or olfactory) will be disappointed, for most of the authors ignore these types completely and discuss only visual hallucinations and related imaginative phenomena. Given this limitation, which will be a significant one for the clinically oriented reader, some portions of the book are interesting and exciting. La Barre's initial chapter about anthropological perspectives on hallucinations and hallucinogens contains an impressive review of both geographic and historical cross-cultural comparisons. West's final chapter is a briefer but readable and informative review of the pharmacology of hallucinogens and of various theories about the physiological and psychological causes of hallucinations. Between beginning and end, the contents vary in both
Non-surgical Endoscopic Trans-papillary Treatment of Ruptured Echinococcus Liver Cyst Obstructing the Biliary Tree
Authors: M.A. Al Karawi, A.R.E. Mohamed, I. Yasawy, A. Haleem
Journal: Endoscopy (1987)

Previous reports showed that surgery is the only method of treating liver hydatid cysts that have ruptured into the biliary system.
Factors Associated With Surgical and Radiation Therapy for Early Stage Breast Cancer in Older Women
Authors: Rachel Ballard-Barbash, Arnold L. Potosky, Linda C. Harlan, Susan G. Nayfield, Larry G. Kessler
Journal: JNCI Journal of the National Cancer Institute (1996)

In addition to demographic and health care-related characteristics, the age and physiologic status of women at the time of breast cancer diagnosis have been reported to influence receipt of standard treatments. Previous studies of the influence of age and comorbidity have not examined whether other patient-, region-, or health care-related characteristics altered the association of age and comorbidity with type of treatment received.This study examined factors associated with receipt of breast-conserving surgery and radiation therapy, both of which are recommended treatments for breast cancer, among a cohort of 18,704 women aged 65 years or more who had breast cancer diagnosed during the period from 1985 through 1989.A data file linking Medicare claims records to data from the Surveillance, Epidemiology, and End Results (SEER) Program of the U.S. National Cancer Institute was utilized. Logistic regression analysis was used to examine associations between patient, region, and hospital characteristics and the receipt of specific treatments. The likelihood test was used to assess the significance of observed associations (expressed as odds ratios [ORs]). Because of multiple comparisons, only those ORs with two-sided P values <.01 were considered statistically significant.The frequency of breast-conserving surgery was highest (54%) among women aged 80 years or more, who had two or more comorbid conditions and stage I disease. However, in general, the receipt of radiation therapy among women undergoing breast-conserving surgery declined markedly with age, irrespective of comorbidity status and disease stage. Between the ages of 65-69 years and 80 years or older, radiation therapy declined from 77% to 24% among women with no comorbid conditions and from 50% to 12% among women with two or more comorbid conditions. In regression models that included hospital, region, and patient characteristics as variables, age and comorbidity remained independently associated with the receipt of radiation therapy (OR = 0.12 and 95% confidence interval [CI] = 0.10-0.14 for women aged 80 years or more compared with women 65-69 years of age and OR of 0.33 [95% CI = 0.24-0.46] for women with two or more comorbid conditions versus no comorbid conditions).After adjustment for multiple clinical and nonclinical factors influencing treatment, chronologic age remains an important independent factor associated with the receipt of radiation therapy after breast-conserving surgery among women aged 65 years or more who were diagnosed with early stage breast cancer.Future studies should determine whether these differences in treatment patterns among older women result in increased morbidity (e.g., from recurrence), shortened disease-free or overall survival, or decreased quality of life.
Inhibition of Hsp90 Leads to Cell Cycle Arrest and Apoptosis in Human Malignant Pleural Mesothelioma
Authors: Junichi Okamoto, Iwao Mikami, Yuichi Tominaga, Kristopher M. Kuchenbecker, Yu-Ching Lin, Dawn T. Bravo, Genevieve Clement, Adam Yagui-Beltran, M Roshni Ray, Kiyoshi Koizumi, Biao He, David M. Jablons
Journal: Journal of Thoracic Oncology (2008)
Nerve growth factor induces development of connective tissue-type mast cells in vitro from murine bone marrow cells.
Authors: H Matsuda, Y Kannan, H Ushio, Y Kiso, T Kanemoto, H Suzuki, Y Kitamura
Journal: The Journal of Experimental Medicine (1991)

The effect of nerve growth factor (NGF) on proliferation/differentiation of mast cells was investigated in vitro. Although NGF alone neither supported colony formation of bone marrow-derived cultured mast cells (BMCMC) nor induced development of mast cell colonies from nonadherent bone marrow cells (NBMC), addition of NGF to the suboptimal dose of interleukin 3 (IL-3) significantly increased the numbers of mast cell colonies produced by BMCMC or NBMC in methylcellulose. When stimulated by IL-3 alone, cells in mast cell colonies were not stained by berberine sulfate, a fluorescent dye. In contrast, mast cells developing in methylcellulose cultures obtaining both IL-3 and NGF were stained by berberine sulfate. The fluorescence was abolished by the treatment of heparinase but not of chondroitinase ABC, suggesting that mast cells stimulated by IL-3 and NGF produced and stored heparin proteoglycan. The histamine content of BMCMC maintained by IL-3 was also increased by addition of NGF. Since BMCMC showed mucosal mast cell-like phenotype, NGF appeared to induce the phenotypic change to connective tissue-type mast cells (CTMC). In the culture containing BMCMC, 3T3 fibroblasts, and IL-3, the phenotypic change of BMCMC to CTMC was observed as well. Since NGF was detected in this coculture and since addition of anti-NGF monoclonal antibody suppressed the phenotypic change, NGF produced by fibroblasts appeared to induce the phenotypic change. Neither BMCMC alone nor IL-3 alone increased the concentration of NGF. Therefore, there is a possibility that BMCMC stimulated by IL-3 may induce the production and/or release of NGF by fibroblasts.
PREDICTORS OF LONG–TERM OUTCOMES IN PATIENTS WITH MODERATE–SEVERE AND SEVERE MYXOMATOUS MITRAL REGURGITATION UNDERGOING EXERCISE ECHOCARDIOGRAPHY
Authors: Peyman Naji, Fadi Asfahan, Tyler Barr, Richard Grimm, A. Gillinov, L. Leonardo Rodriguez, Tomislav Mihaljevic, Brian Griffin, Milind Desai
Journal: Journal of the American College of Cardiology (2013)
Hematopoietic recovery kinetics predicts for poor CD34+ cell mobilization after cyclophosphamide chemotherapy in multiple myeloma
Authors: Guner Hayri Ozsan, Ivana N. Micallef, Angela Dispenzieri, Shaji Kumar, Martha Q. Lacy, David Dingli, Suzanne R. Hayman, Francis K. Buadi, Robert C. Wolf, Dennis A. Gastineau, William J. Hogan, Morie A. Gertz
Journal: American Journal of Hematology (2011)

Abstract Autologous stem cell transplantation is an important part of therapy in patients with multiple myeloma. Some patients fail to collect the desired number of stem cells while others require multiple apheresis to reach the desired apheresis target. The aim of this study was to determine the predictive factors and if the hematopoietic kinetics of recovery were predictive for outcome of stem cell mobilization in cyclophosphamide + growth factor (CY‐GF) mobilized patients. Three hundred and ninety six consecutive CY‐GF mobilization attempts between January 2000 and December 2009 at Mayo Clinic, Rochester, MN were analyzed. Patients were divided into three groups: optimal (&gt;5 × 10 6 CD34/kg), suboptimal (2–5 × 10 6 CD34/kg) and poor (&lt;2 × 10 6 /kg CD34+ cells) mobilization groups. About 86% of patients had optimal stem cell collection, whereas 8% had suboptimal collection and 6% had poor (or failed) collections. Age, Hb, WBC, and platelet levels had an impact on mobilization results. Time to peripheral blood (PB) CD34+cells &gt;10/μL predicted for efficiency of collection and the interval between recovery of WBC&gt;1 post‐CY to PB CD34+ cells&gt;10 was shorter in the optimal collection groups. These findings suggest that for patients with a PB CD34+ cell count below 10/μL on Day 13 following CY or 1 day after the WBC&gt;1 × 10 9 /L, addition of plerixafor may be helpful to salvage the mobilization attempt. Am. J. Hematol., 2012. © 2011 Wiley Periodicals, Inc.
Day case surgery, or putting the clocks back
Authors: R. Burkitt
Journal: BMJ (1980)

<h3>Abstract</h3> <h3>Background</h3> Progression of Alzheimer’s disease is thought initially to depend on rising amyloidβ and its synaptic interactions. Transgenic mice (TASTPM; <i>APP</i><sub><i>Swe</i></sub><i>/PSEN1</i><sub><i>M146V</i></sub><i>)</i> show altered synaptic transmission, compatible with increased physiological function of amyloidβ, before plaques are detected. Recently, the importance of microglia has become apparent in the human disease. Similarly, TASTPM show a close association of plaque load with upregulated microglial genes. <h3>Methods</h3> CA1 Synaptic transmission and plasticity were investigated using in vitro electrophysiology. Migroglial relationship to plaques was examined with immunohistochemistry. Behaviour was assessed with a forced-alternation T-maze, open field, light/dark box and elevated plus maze. <h3>Findings</h3> The most striking finding is the early proliferation of microglia in TASTPM, which, like synaptic changes, begins before plaques are detected. Further proliferation and activation of microglia occur later, concurrent with development of larger plaques. Long-term potentiation is initially enhanced at pre-plaque stages but decrements with the initial appearance of plaques. Finally, despite altered plasticity, TASTPM have little cognitive deficit, even with a heavy plaque load, although they show altered non-cognitive behaviours. <h3>Interpretation</h3> The pre-plaque synaptic changes and microglial proliferation are presumably related to low, non-toxic amyloidβ levels in the general neuropil and not directly associated with plaques. However, as plaques grow, microglia proliferate further, clustering around plaques and activating. Like in humans, when plaque load is heavy, before development of neurofibrillary tangles and neurodegeneration, these alterations do not result in cognitive deficits. Behaviours are seen that could be consistent with pre-diagnosis changes in the human condition.