tbuckley/cabot-search huggingface dataset:
DGAT1 mutation is linked to a congenital diarrheal disorder
Authors: Joel T. Haas, Harland S. Winter, Elaine Lim, Andrew Kirby, Brendan Blumenstiel, Matthew DeFelice, Stacey Gabriel, Chaim Jalas, David Branski, Carrie A. Grueter, Mauro S. Toporovski, Tobias C. Walther, Mark J. Daly, Robert V. Farese
Journal: Journal of Clinical Investigation (2012)

Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish descent, with 2 out of 3 children affected by CDD. Both affected children presented 3 days after birth with severe, intractable diarrhea. One child died from complications at age 17 months. The second child showed marked improvement, with resolution of most symptoms at 10 to 12 months of age. Using exome sequencing, we identified a rare splice site mutation in the DGAT1 gene and found that both affected children were homozygous carriers. Molecular analysis of the mutant allele indicated a total loss of function, with no detectable DGAT1 protein or activity produced. The precise cause of diarrhea is unknown, but we speculate that it relates to abnormal fat absorption and buildup of DGAT substrates in the intestinal mucosa. Our results identify DGAT1 loss-of-function mutations as a rare cause of CDDs. These findings prompt concern for DGAT1 inhibition in humans, which is being assessed for treating metabolic and other diseases.
Submucosal Gallbladder Emphysema
Authors: Earl W. Campbell
Journal: JAMA (1974)

The clinical course of emphysematous cholecystitis is highly correlated with diabetes, male sex, and age of more than 50 years. Roentgenographic features include luminal and occasionally submucosal gallbladder gas. Clinically, the patient may be jaundiced and frequently has a history of cholecystitis. In most cases, an enlarged mass is palpable in the right upper quadrant of the abdomen, and the patient may be in a more toxic condition than physical signs indicate. Submucosal gallbladder emphysema has grave prognostic importance, as it implies mucosal gallbladder necrosis.
Incidence of tibial fracture in child skiers.
Authors: S A Hill
Journal: British Journal of Sports Medicine (1989)

Skiing is an increasingly popular sport amongst both adults and children. Opportunities for skiing within the United Kingdom are limited, but the introduction of increasing numbers of dry ski slopes has made the sport more available. The nature of injuries sustained by adults on snow and dry slopes is well documented, but this is less true of childhood injury, especially on dry slopes. A consecutive series of 92 patients with skiing injuries is presented. Both dry slope and snow slope injuries are included. The incidence of tibial fracture in children was ten times that of adults. The nature of all injuries sustained during the study period is documented, the childhood tibial fractures are described in detail, and possible aetiological factors are discussed.
Mechanism of impaired baroreflex control in prehypertensive Dahl salt-sensitive rats.
Authors: F J Gordon, A L Mark
Journal: Circulation Research (1984)

Dahl salt-sensitive rats fed a low salt diet demonstrate functional impairment in baroreflex control of cardiovascular function prior to the development of hypertension. The purpose of this study was to identify the mechanism(s) responsible for impaired baroreflex control in prehypertensive Dahl salt-sensitive rats. To examine the central and efferent portions of the baroreflex arc, we electrically stimulated the aortic depressor nerve of urethane anesthetized Dahl salt-sensitive and Dahl salt-resistant rats while recording arterial pressure, heart rate, and sympathetic nerve activity. Aortic nerve stimulation produced equivalent responses in both groups, indicating that central and efferent mechanisms could not account for functional baroreflex impairment. In separate groups of Dahl rats, multifiber afferent aortic baroreceptor discharge was recorded while arterial pressure was increased with phenylephrine. Prehypertensive Dahl salt-sensitive rats demonstrated significantly less baroreceptor activation than Dahl salt-resistant rats, indicating that impaired baroreceptor discharge is the mechanism responsible for baroreflex abnormalities. Aortic arch distensibility was not different between Dahl strains, suggesting that impaired baroreceptor discharge in Dahl salt-sensitive rats is probably not due to abnormalities in vessel wall distensibility. Since arterial pressure of both Dahl strains was in the normotensive range and did not differ significantly between Dahl salt-sensitive and salt-resistant rats, baroreceptor impairment appears to be a primary defect in Dahl salt-sensitive rats, rather than being secondary to hypertension. We speculate that this impairment in baroreceptor function in Dahl salt-sensitive rats prior to any elevation in arterial pressure may contribute to the Dahl salt-sensitive rat's genetic propensity to develop hypertension.
Monitoring Indoor Exposure to Organophosphate Flame Retardants: Hand Wipes and House Dust
Authors: Kate Hoffman, Stavros Garantziotis, Linda S. Birnbaum, Heather M. Stapleton
Journal: Environmental Health Perspectives (2014)

Organophosphate flame retardants (PFRs) are becoming popular replacements for the phased-out polybrominated diphenyl ether (PBDE) mixtures, and they are now commonly detected in indoor environments. However, little is known about human exposure to PFRs because they cannot be easily measured in blood or serum.To investigate relationships between the home environment and internal exposure, we assessed associations between two PFRs, tris(1,3-dichloropropyl) phosphate (TDCIPP) and triphenyl phosphate (TPHP), in paired hand wipe and dust samples and concentrations of their metabolites in urine samples (n = 53). We also assessed short-term variation in urinary metabolite concentrations (n = 11 participants; n = 49 samples).Adult volunteers in North Carolina, USA, completed questionnaires and provided urine, hand wipe, and household dust samples. PFRs and PBDEs were measured in hand wipes and dust, and bis(1,3-dichloropropyl) phosphate (BDCIPP) and diphenyl phosphate (DPHP), metabolites of TDCIPP and TPHP, were measured in urine.TDCIPP and TPHP were detected frequently in hand wipes and dust (> 86.8%), with geometric mean concentrations exceeding those of PBDEs. Unlike PBDEs, dust TDCIPP and TPHP levels were not associated with hand wipes. However, hand wipe levels were associated with urinary metabolites. Participants with the highest hand wipe TPHP mass, for instance, had DPHP levels 2.42 times those of participants with the lowest levels (95% CI: 1.23, 4.77). Women had higher levels of DPHP, but not BDCIPP. BDCIPP and DPHP concentrations were moderately to strongly reliable over 5 consecutive days (intraclass correlation coefficients of 0.81 and 0.51, respectively).PFR exposures are widespread, and hand-to-mouth contact or dermal absorption may be important pathways of exposure.
Mandatory reporting of all sexually active under-13s
Authors: Somasundari Gopalakrishnan, R Nicholas Pugh
Journal: BMJ (2005)

Endovascular repair is not worse than open repair of abdominal aortic aneurysmsEditor-The title and interpretation of the EVAR trial results in the POEM are misleading and incorrect. 1Mortality figures were quoted both as aneurysm related and all cause deaths.The 30 day mortality was 1.7% in the EVAR group, which is significantly lower than 4.7% in the open repair group.Surprisingly, the POEM somehow interpreted 30 day mortality to be less than 1% for both groups, which is clearly an error.The confidence intervals (odds ratio 0.35, 95% confidence interval 0.16 to 0.77, P = 0.009) make type I error unlikely.If preintervention deaths are added to the figures 30 day mortality was calculated at 3.5% for endovascular repair and 7.1% for open surgery. 2 The advantage of endovascular repair is sustained at four years, with 4% aneurysm related deaths in the EVAR group compared with 7% in the open repair group.This confers a 3% absolute reduction in aneurysm related mortality.The all cause mortality rate was comparable in both groups at four years.Endovascular repair offers a 30 day lower risk treatment compared with open surgery in patients who are medically fit with an abdominal aortic aneurysm.Compared with open repair, endovascular repair offers no advantage with respect to all cause mortality and health related quality of life; and is more expensive; however, it confers a 3% improved aneurysm related survival which persists at four years.The POEM's message that endovascular repair is worse than open repair is inaccurate and not evidence based.
STUDIES OF GASTRIC PEPSIN. II. SECRETION OF PEPSIN IN CASES OF DUODENAL ULCER AND PSEUDO-ULCER
Authors: Frances R. Vanzant, Arnold E. Osterberg, Walter C. Alvarez, Andrew B. Rivers
Journal: Journal of Clinical Investigation (1933)

Few articles on concentration of pepsin in the gastric juice of patients with disease of the stomach and duodenum are to be found in recent liter- ature, and the results reported by different observers are not always in accord.We shall consider here only the concentration of pepsin in the gastric juice of persons suffering with the syndrome of peptic ulcer.Wilcox (5), in 1908, reported that the concentration of pepsin in the gastric juice of persons with peptic ulcer and hyperacidity was usually higher, and never lower, than normal.Boas (1), in 1925, and Hirsch- Mamroth and Rindfleisch (3) likewise found that the concentration of pepsin was elevated in the presence of ulcer, provided blood was not present in the sample examined, but they quoted other workers who at times failed to find any increase.Polland and Bloomfield (4) reported that the range of concentration of pepsin was the same in patients with ulcer as in normal persons.We have estimated the concentration of pepsin by a modification of the 0
Adverse Metabolic Effect of Omega-3 Fatty Acids in Non-Insulin-Dependent Diabetes Mellitus
Authors: HARRY GLAUBER
Journal: Annals of Internal Medicine (1988)

Increased interest in using omega-3 fatty acids led us to examine their metabolic effects in six men with type II (non-insulin-dependent) diabetes mellitus. After 1 month of a diet supplemented with these fatty acids, the patients' fasting glucose rose from 13.1 ± 1.3 to 15.3 ± 1.3 mmol/L (P = 0.03) and glucose area during a mixed meal profile rose by 22% (P = 0.04). Basal hepatic glucose output rose from 97 ± 9 to 122 ± 8 mg/m2 · min (P = 0.004) but glucose disposal rates measured by euglycemic glucose clamp were unchanged. Fasting insulin levels were similar; peak insulin levels stimulated by meals or intravenous glucagon fell by 30% and 39%, respectively. Plasma and erythrocyte content of omega-3 fatty acid rose significantly. After omega-3 fatty acid withdrawal, fasting glucose returned to baseline. Omega-3 fatty acid treatment in type II diabetes leads to rapid but reversible metabolic deterioration, with elevated basal hepatic glucose output and impaired insulin secretion but unchanged glucose disposal rates. Caution should be used when recommending omega-3 fatty acids in type II diabetic persons.
Connexin43 knockdown or overexpression modulates cell coupling in control and failing rabbit left ventricular myocytes
Authors: Xun Ai, Weiwei Zhao, Steven M. Pogwizd
Journal: Cardiovascular Research (2009)

We have shown that failing human and rabbit left ventricle (LV) exhibits downregulation and dephosphorylation of connexin43 (Cx43) and that Cx43 dephosphorylation in heart failure (HF) contributes to reduced cell coupling. However, the role of Cx43 downregulation per se in impaired coupling in HF is unclear. First, we used adenovirus (Ad) encoding a Cx43 siRNA sequence to knock down Cx43 protein levels in cultured control rabbit LV myocytes. Cells cultured for up to 48 h with intermittent pacing maintained Cx43 protein levels and phosphorylation status. Cell coupling in Cx43 knockdown myocyte pairs (by Lucifer Yellow dye transfer) was markedly reduced after 24 h infection (associated with ∼40% Cx43 knockdown) and after 48 h (associated with ∼70% Cx43 knockdown). The phosphorylation status, distribution of remaining Cx43 proteins, and levels of other cardiac connexins (Cx40 and Cx45) were unchanged. Second, we overexpressed Cx43 to levels comparable to control using an adenovirus encoding wild-type Cx43 (Cx43WT) gene in isolated LV myocytes from our arrhythmogenic HF rabbit model. We found 87% more Cx43WT proteins improved dye coupling [vs. Ad-β-galactosidase (LacZ) infected HF controls]. Overexpressed Cx43 protein was located throughout the myocyte membrane (same pattern as in controls), and the phosphorylation status of Cx43 remained comparable to that in AdLacZ infected HF controls. In addition to Cx43 dephosphorylation, downregulation of Cx43 plays an essential role in reduced cell coupling in the failing rabbit heart. Modulation of Cx43 expression could be a novel therapeutic approach to improve conduction and decrease sudden death in HF.
London doctors' do not put patients among the top five factors for job satisfaction
Authors: L. Eaton
Journal: BMJ (2004)

A major survey of NHS staff satisfaction within London trusts shows that doctors, along with senior managers, are one of the most highly satisfied staff groups. However, all staff groups agreed that better workplace conditions and more staff would be a major improvement in their working lives. One doctor in particular joined nursing staff in commenting on how dirty the hospital was. The stairwell and lift area were “filthy,” he told researchers.

The report, published by the Institute for Employment Studies and launched at a King's Fund conference this week, is an annual survey …
Modern Cardiovascular Physiology
Authors: Borys Surawicz
Journal: JAMA (1989)

"Before learning how something works, one should know what it is for, and why it is important." This statement, prefacing one chapter, explains the author's philosophy of teaching and his motivation in preparing this textbook. The updated second edition is a concise compendium of the important principles and concepts of cardiovascular physiology. This field is almost too vast to be mastered in depth by a single individual, but the author has done it in an admirable manner, and in the excellent tradition of the famous Rochester (NY) school of physiology. The book is divided into five sections, with appendixes containing tables of normal values and problems that should be solved by a student who has digested and comprehended the text. The first two sections deal with the principles of cardiac mechanics, electrophysiology, and hemodynamics; the third is concerned with exchanges between blood and tissues; the fourth, the most original, deals
Teichoic Acid Antibodies in the Diagnosis of Serious Infections with Staphylococcus aureus
Authors: CARMELITA U. TUAZON
Journal: Annals of Internal Medicine (1976)

The development of antibodies to teichoic acid was studied in 56 patients with infections due to Staphylococcus aureus. All 28 patients with endocarditis eventually developed teichoic acid antibodies demonstrable both by counterimmunoelectrophoresis and by gel diffusion; however, 7 patients were negative on admission. Eight of 15 patients with S. aureus bacteremia developed antibodies by counterimmunoelectrophoresis and 6 of the 8 were positive by gel diffusion; 4 of those 6 had evidence of seeding of S. aureus. Three of 5 patients with osteomyelitis and 1 of 8 with localized peripheral abscesses had teichoic acid antibodies. Titers of 1:4 or greater by gel diffusion were present in 18 of 28 patients with endocarditis compared with only 1 of 10 patients with nonendocarditic staphylococcal infections. Thus, the demonstration and quantitation of teichoic acid antibodies is of great clinical value in the early diagnosis of infections due to S. aureus and in assessing the likelihood of deep intra- or perivascular seeding.
185 MINIMAL HEPATIC ENCEPHALOPATHY (MHE): SIMPLIFIED DIAGNOSIS AND RELATIONSHIP WITH THE DEVELOPMENT OF OVERT HEPATIC ENCEPHALOPATHY (OHE)
Authors: C. Pasquale, L. Ridola, I. Pentassuglio, S. Nardelli, M. Trezza, C. Marzano, C. Merkel, O. Riggio
Journal: Journal of Hepatology (2010)
Bone Marrow Transplantation for Acute Leukemia
Authors: Mortimer M. Bortin
Journal: JAMA (1979)

To the Editor.—  In a letter toThe Journal(241:1686, 1979), Blume and Beutler reported impressive survival data following bone marrow transplants performed between 1976 and 1978 in 11 patients with acute leukemia in remission. They expressed concern that an article from the International Bone Marrow Transplant Registry 1 may create an unjustified negative attitude toward bone marrow transplantation in the treatment of acute leukemia. It is apparent that Blume and Beutler missed the point of the Registry article.  The report from the Registry comprised 57 patients who were treated with bone marrow transplantation for end-stage acute myeloblastic leukemia (AML). The patients were treated between 1968 and 1976, when marrow transplantation was considered to be highly experimental and was attempted only after repeated failures with more conventional forms of therapy. Despite the fact that all of the patients in the Registry report were in relapse at the time of transplantation, analysis
Determinants of Hepatitis C Translational Initiation in Vitro, in Cultured Cells and Mice
Authors: Anton P. McCaffrey, Kazuo Ohashi, Leonard Meuse, Shiliang Shen, Alissa M. Lancaster, Peter J. Lukavsky, Peter Sarnow, Mark A. Kay
Journal: Molecular Therapy (2002)

Hepatitis C virus (HCV) is an RNA virus infecting 1 in every 40 people worldwide. Development of new therapeutics for treating HCV has been hampered by the lack of small-animal models. We have adapted existing hydrodynamic transfection methods to optimize the delivery of RNAs to the cytoplasm of mouse liver cells in vivo. Transfected HCV genomic RNA failed to replicate in mouse liver, suggesting a post-entry block to viral replication. Real-time imaging of HCV internal ribosome entry site (IRES) firefly luciferase reporter mRNA translation in living mice demonstrated that the HCV IRES was functional in mouse liver. We then used this system as a model for studying HCV RNA translation in mice. We compared translation by several mutant HCV IRES variants in cell lysates, cultured cells, and mouse liver. We measured the contribution to translation of a cap, HCV 3′-untranslated region (UTR), poly(A) tail, domains II, IIIb, IIIabc, IIIabcd, IIId, and the initiator codon. Efficient translation required a 3′-UTR in mice and HeLa cells, but not in rabbit reticulocyte lysates. Translational regulation of transfected RNAs was stringent in mice. The method we describe could be useful for studies in mice of antisense or ribozyme inhibitors targeting the IRES as well as other RNA biochemical studies in vivo.
Selective Localization of Glutaminase in Spinal and Sensory Nerve Cells
Authors: Charles B. Cangro
Journal: JAMA (1984)

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Volunteer and professional treatments of dysphasia after stroke.
Authors: B O Williams, S A Walker
Journal: BMJ (1979)

menopausal bleeding from which the women workers suffered.Finally, the criticism of the inappropriate use of the unpaired t test in the statistical analysis is groundless because, firstly, there is no obvious violation of the assumptions of the t test and, secondly, the robustness of the t statistic secures its use in comparing two groups.We have no doubt therefore about the significance of our findings.
Studies of activated GPIIb/IIIa receptors on the luminal surface of adherent platelets. Paradoxical loss of luminal receptors when platelets adhere to high density fibrinogen.
Authors: B S Coller, J L Kutok, L E Scudder, D K Galanakis, S M West, G S Rudomen, K T Springer
Journal: Journal of Clinical Investigation (1993)

The accessibility of activated GPIIb/IIIa receptors on the luminal surface of platelets adherent to damaged blood vessels or atherosclerotic plaques is likely to play a crucial role in subsequent platelet recruitment. To define better the factors involved in this process, we developed a functional assay to assess the presence of activated, luminal GPIIb/IIIa receptors, based on their ability to bind erythrocytes containing a high density of covalently coupled RGD-containing peptides (thromboerythrocytes). Platelets readily adhered to wells coated with purified type I rat skin collagen and the adherent platelets bound a dense lawn of thromboerythrocytes. With fibrinogen-coated wells, platelet adhesion increased as the fibrinogen-coating concentration increased, reaching a plateau at about 11 micrograms/ml. Thromboerythrocyte binding to the platelets adherent to fibrinogen showed a paradoxical response, increasing at fibrinogen coating concentrations up to approximately 4-6 micrograms/ml and then dramatically decreasing at higher fibrinogen-coating concentrations. Scanning electron microscopy demonstrated that the morphology of platelets adherent to collagen was similar to that of platelets adherent to low density fibrinogen, with extensive filopodia formation and ruffling. In contrast, platelets adherent to high density fibrinogen showed a bland, flattened appearance. Immunogold staining of GPIIb/IIIa receptors demonstrated concentration of the receptors on the filopodia, and depletion of receptors on the flattened portion of the platelets. Thus, there is a paradoxical loss of accessible, activated GPIIb/IIIa receptors on the luminal surface of platelets adherent to high density fibrinogen. Two factors may contribute to this result: engagement of GPIIb/IIIa receptors with fibrinogen on the abluminal surface leading to the loss of luminal receptors, and loss of luminal filopodia that interact with thromboerythrocytes. These data provide insight into the differences in thrombogenicity between surfaces, and may provide a mechanism for purposefully passivating platelet-reactive artificial surfaces.