1,722,844 research outputs found
Clinical characteristics and phenotype genotype analysis of Turkish patients with congenital hyperinsulinism
No full textEur J EndocrinolObjective: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal,
infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely
heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype–phenotype
correlations and describe the treatment outcome of Turkish CHI patients.
Design and methods: A total of 35 patients with CHI were retrospectively recruited from four large paediatric endocrine
centres in Turkey. Detailed clinical, biochemical and genotype information was collected.
Results: Diazoxide unresponsiveness was observed in nearly half of the patients (nZ17; 48.5%). Among
diazoxide-unresponsive patients, mutations in ABCC8/KCNJ11 were identified in 16 (94%) patients. Among
diazoxide-responsive patients (nZ18), mutations were identified in two patients (11%). Genotype–phenotype correlation
revealed that mutations in ABCC8/KCNJ11 were associated with an increased birth weight and early age of presentation.
Five patients had p.L1171fs (c.3512del) ABCC8 mutations, suggestive of a founder effect. The rate of detection of
a pathogenic mutation was higher in consanguineous families compared with non-consanguineous families
(87.5 vs 21%; P!0.0001).
Among the diazoxide-unresponsive group, ten patients were medically managed with octreotide therapy and carbohydraterich
feeds and six patients underwent subtotal pancreatectomy. There was a high incidence of developmental delay and
cerebral palsy among diazoxide-unresponsive patients.
Conclusions: This is the largest study to report genotype–phenotype correlations among Turkish patients with CHI.
Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%). There is a higher
likelihood of genetic diagnosis in patients with early age of presentation, higher birth weight and from consanguineous
pedigrees
Sensitivity and specificity in diagnosis of osteoporosis: a comparative study between QCT and DEXA in 550 women
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Connecting the lines between hypogonadism and atherosclerosis
No full textEpidemiological studies show that atherosclerotic cardiovascular disease is a leading cause of morbidity and mortality worldwide and point to gender differences with ageing males being at highest risk. Atherosclerosis is a complex process that has several risk factors and mediators. Hypogonadism is a commonly undiagnosed disease that has been associated with many of the events, and risk factors leading to atherosclerosis. The mechanistic relations between testosterone levels, atherosclerotic events, and risk factors are poorly understood in many instances, but the links are clear. In this paper, we summarize the research journey that explains the link between hypogonadism, each of the atherosclerotic events, and risk factors. We look into the different areas from which lessons could be learned, including epidemiological studies, animal and laboratory experiments, studies on androgen deprivation therapy patients, and studies on testosterone-treated patients. We finish by providing recommendations for the clinician and needs for future research. Copyright © 2012 Akl C. Fahed et al.Adiels M, 2008, ARTERIOSCL THROM VAS, V28, P1225, DOI 10.1161-ATVBAHA.107.160192; Akishita M, 2007, HYPERTENS RES, V30, P1029, DOI 10.1291-hypres.30.1029; Alexandersen P, 1999, CIRC RES, V84, P813; Ariyo AA, 2003, NEW ENGL J MED, V349, P2108, DOI 10.1056-NEJMoa001066; Aversa A, 2010, J SEX MED, V7, P3495, DOI 10.1111-j.1743-6109.2010.01931.x; BARRETTCONNOR E, 1992, ANN INTERN MED, V117, P807; Basaria S, 2010, J CLIN ENDOCR METAB, V95, P1533, DOI 10.1210-jc.2009-1579; Bhatia V, 2006, DIABETES CARE, V29, P2289, DOI 10.2337-dc06-0637; Bolla M, 1997, NEW ENGL J MED, V337, P295, DOI 10.1056-NEJM199707313370502; Bourghardt J, 2010, ENDOCRINOLOGY, V151, P5428, DOI 10.1210-en.2010-0663; Boyanov M A, 2003, Aging Male, V6, P1; Brown-Sequard C., 1889, LANCET, V134, P105; Cakir E, 2005, J CLIN ENDOCR METAB, V90, P1651, DOI 10.1210-jc.2004-2045; Calof OM, 2005, J GERONTOL A-BIOL, V60, P1451; Caminiti G, 2009, J AM COLL CARDIOL, V54, P919, DOI 10.1016-j.jacc.2009.04.078; Choong K, 2010, AGING MALE, V13, P1, DOI 10.3109-13685530903410625; Cornoldi A, 2010, INT J CARDIOL, V142, P50, DOI 10.1016-j.ijcard.2008.12.107; Ding EL, 2009, NEW ENGL J MED, V361, P1152, DOI 10.1056-NEJMoa0804381; Ding EL, 2006, JAMA-J AM MED ASSOC, V295, P1288, DOI 10.1001-jama.295.11.1288; Ezaki K, 2010, CIRC J, V74, P2448, DOI 10.1253-circj.CJ-10-0221; Fernandez-Balsells MM, 2010, J CLIN ENDOCR METAB, V95, P2560, DOI 10.1210-jc.2009-2575; Foresta C, 2006, J CLIN ENDOCR METAB, V91, P4599, DOI 10.1210-jc.2006-0763; Foresta C, 2008, CLIN ENDOCRINOL, V68, P284, DOI 10.1111-j.1365-2265.2007.03036.x; Freeman ER, 2001, J UROLOGY, V165, P371, DOI 10.1097-00005392-200102000-00004; Fu L, 2008, ASIAN J ANDROL, V10, P214, DOI 10.1111-j.1745-7262.2008.00335.x; Gustafson B, 2007, ARTERIOSCL THROM VAS, V27, P2276, DOI 10.1161-ATVBAHA.107.147835; Haddad RM, 2007, MAYO CLIN PROC, V82, P29; HAFFNER SM, 1993, J CLIN ENDOCR METAB, V77, P1610, DOI 10.1210-jc.77.6.1610; Haidar A, 2007, AGING MALE, V10, P189, DOI 10.1080-13685530701653538; Hak AE, 2002, J CLIN ENDOCR METAB, V87, P3632, DOI 10.1210-jc.87.8.3632; Hanke H, 2001, CIRCULATION, V103, P1382; Hatakeyama H, 2002, FEBS LETT, V530, P129, DOI 10.1016-S0014-5793(02)03440-3; Heitzer T, 2001, CIRCULATION, V104, P2673, DOI 10.1161-hc4601.099485; Heufelder AE, 2009, J ANDROL, V30, P726, DOI 10.2164-jandrol.108.007005; Hougaku H, 2006, AM J PHYSIOL-ENDOC M, V290, pE234, DOI 10.1152-ajpendo.00059.2005; Isidori AM, 2005, CLIN ENDOCRINOL, V63, P280, DOI 10.1111-j.1365-2265.2005.02339.x; JAFFE MD, 1977, BRIT HEART J, V39, P1217; Johnsen SH, 2005, CIRCULATION, V112, P498, DOI 10.1161-CIRCULATIONAHA.104.522706; Jones TH, 2011, DIABETES CARE, V34, P828, DOI 10.2337-dc10-1233; Jones TH, 2009, ATHEROSCLEROSIS, V207, P318, DOI 10.1016-j.atherosclerosis.2009.04.016; Kalinchenko SY, 2010, CLIN ENDOCRINOL, V73, P602, DOI 10.1111-j.1365-2265.2010.03845.x; Kang SM, 2002, AM J CARDIOL, V89, P862, DOI 10.1016-S0002-9149(02)02202-6; Kaplan SA, 2010, AGING MALE, V13, P40, DOI 10.3109-13685530903536676; Kapoor D, 2007, EUR J ENDOCRINOL, V156, P595, DOI 10.1530-EJE-06-0737; Kapoor D, 2006, EUR J ENDOCRINOL, V154, P899, DOI 10.1530-eje.1.02166; Keating NL, 2006, J CLIN ONCOL, V24, P4448, DOI 10.1200-JCO.2006.06.2497; Kenny AM, 2002, J GERONTOL A-BIOL, V57, pM460; Keymel S, 2008, BASIC RES CARDIOL, V103, P582, DOI 10.1007-s00395-008-0742-z; Kumanov P, 2007, INT J ANDROL, V30, P41, DOI 10.1111-j.1365-2605.2006.00706.x; Kumanov P, 2002, ANDROLOGIA, V34, P29, DOI 10.1046-j.1439-0272.2002.00468.x; Laaksonen DE, 2005, J CLIN ENDOCR METAB, V90, P712, DOI 10.1210-jc.2004-0970; Laaksonen DE, 2003, EUR J ENDOCRINOL, V149, P601, DOI 10.1530-eje.0.1490601; Laaksonen DE, 2004, DIABETES CARE, V27, P1036, DOI 10.2337-diacare.27.5.1036; Leifke E, 2008, HORM METAB RES, V40, P56, DOI 10.1055-s-2007-1004529; LERNER DJ, 1986, AM HEART J, V111, P383, DOI 10.1016-0002-8703(86)90155-9; Lesser MA, 1942, NEW ENGL J MED, V226, P51, DOI 10.1056-NEJM194201082260203; LESSER MA, 1946, J CLIN ENDOCR METAB, V6, P549; Ling SH, 2002, ENDOCRINOLOGY, V143, P1119, DOI 10.1210-en.143.3.1119; Liva SM, 2001, J IMMUNOL, V167, P2060; Ly LP, 2001, J CLIN ENDOCR METAB, V86, P4078, DOI 10.1210-jc.86.9.4078; Malkin CJ, 2010, CURR OPIN ENDOCRINOL, V17, P262, DOI 10.1097-MED.0b013e328339543e; Malkin CJ, 2004, J CLIN ENDOCR METAB, V89, P3313, DOI 10.1210-jc.2003-031069; Maravelias C, 2005, TOXICOL LETT, V158, P167, DOI 10.1016-j.toxlet.2005.06.005; Mårin P, 1993, Obes Res, V1, P245; Marin R, 1999, BIOL REPROD, V61, P1012, DOI 10.1095-biolreprod61.4.1012; Mathur A, 2009, EUR J ENDOCRINOL, V161, P443, DOI 10.1530-EJE-09-0092; Mattace-Raso FUS, 2006, CIRCULATION, V113, P657, DOI 10.1161-CIRCULATIONAHA.105.555235; McCrohon JA, 2000, CIRCULATION, V101, P224; Mercuro G, 2010, J CARDIOVASC MED, V11, P207, DOI 10.2459-JCM.0b013e32833178ed; Morimoto S, 2005, J ENDOCRINOL, V187, P217, DOI 10.1677-joe.1.06357; Muller M, 2005, J CLIN ENDOCR METAB, V90, P2618, DOI 10.1210-jc.2004-1158; Muller M, 2004, CIRCULATION, V109, P2074, DOI 10.1161-01.CIR.0000125854.51637.06; Naharci Mehmet Ilkin, 2007, Endocr Pract, V13, P629; Nettleship JE, 2007, CIRCULATION, V116, P2427, DOI 10.1161-CIRCULATIONAHA.107.708768; Ng MKC, 2002, ARTERIOSCL THROM VAS, V22, P1136, DOI 10.1161-01.ATV.0000022167.80130.A6; Niskanen L, 2004, DIABETES OBES METAB, V6, P208, DOI 10.1111-j.1462-8902.2004.00335.x; Pearson LJ, 2008, PEPTIDES, V29, P1057, DOI 10.1016-j.peptides.2008.02.003; Pritchard J, 1998, J CLIN ENDOCR METAB, V83, P3277, DOI 10.1210-jc.83.9.3277; Qiu Y, 2010, ENDOCRINOLOGY, V151, P3307, DOI 10.1210-en.2009-1268; Rajala Ulla M, 2007, Diabetes Care, V30, pe13, DOI 10.2337-dc06-1979; Saad F, 2011, J OBES; Schroeder ET, 2004, J CLIN ENDOCR METAB, V89, P4863, DOI 10.1210-jc.2004-0784; Schwartz BG, 2009, INT J IMPOT RES, V21, P327, DOI 10.1038-ijir.2009.38; Selvin E, 2007, DIABETES CARE, V30, P234, DOI 10.2337-dc06-1579; Shabsigh R, 2009, INT J IMPOT RES, V21, P9, DOI 10.1038-ijir.2008.31; Shahinian VB, 2005, CANCER-AM CANCER SOC, V103, P1615, DOI 10.1002-cncr.20955; Simon D, 1997, J CLIN ENDOCR METAB, V82, P682, DOI 10.1210-jc.82.2.682; Smith Matthew R, 2007, Curr Opin Endocrinol Diabetes Obes, V14, P247, DOI 10.1097-MED.0b013e32814db88c; Svartberg J, 2004, EUR J ENDOCRINOL, V150, P65, DOI 10.1530-eje.0.1500065; WU SZ, 1993, CHINESE MED J-PEKING, V106, P415; TENOVER JS, 1992, J CLIN ENDOCR METAB, V75, P1092, DOI 10.1210-jc.75.4.1092; Tharp DL, 2009, CARDIOVASC RES, V82, P152, DOI 10.1093-cvr-cvp038; THOMPSON PD, 1989, JAMA-J AM MED ASSOC, V261, P1165, DOI 10.1001-jama.261.8.1165; Tomaszewski M, 2009, ATHEROSCLEROSIS, V203, P257, DOI 10.1016-j.atherosclerosis.2008.06.002; Traish AM, 2009, VASC PHARMACOL, V51, P303, DOI 10.1016-j.vph.2009.09.003; Traish AM, 2009, FEBS J, V276, P5755, DOI 10.1111-j.1742-4658.2009.07305.x; Traish AM, 2009, J ANDROL, V30, P23, DOI 10.2164-jandrol.108.005751; Uyanik BS, 1997, JPN HEART J, V38, P73; Van Pottelbergh I, 2003, ATHEROSCLEROSIS, V166, P95, DOI 10.1016-S0021-9150(02)00308-8; Vignozzi L, 2007, J SEX MED, V4, P620, DOI 10.1111-j.1743-6109.2007.00440.x; Walker TC, 1942, J CLIN ENDOCRINOL, V2, P560; WHO, 2011, GLOB STAT REP NONC D; Yeap BB, 2010, CURR OPIN ENDOCRINOL, V17, P269, DOI 10.1097-MED.0b013e3283383031; Zgliczynski S, 1996, ATHEROSCLEROSIS, V121, P35, DOI 10.1016-0021-9150(95)05673-4; Zitzmann M, 2007, J CLIN ENDOCR METAB, V92, P3844, DOI 10.1210-jc.2007-0620; Zitzmann M, 2008, J ANDROL, P54; Zitzmann M, 2002, J CLIN ENDOCR METAB, V87, P5030, DOI 10.1210-jc.2002-020504; Zumoff B, 2003, METABOLISM, V52, P1126, DOI 10.1016-S0026-0495(03)00186-078
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Effects of growth hormone on body proportions in Turner syndrome compared with non-treated patients and normal women
No full textConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Background: The majority of anthropometric assessments in Turner syndrome (TS) patients has focused on height. AIM: To analyze body proportions in young adult TS patients either treated or not treated with rhGH, and to compare them with a group of age-matched healthy women. Subjects and methods: Standing height, sitting height, weight, foot and leg lengths, arm span, head circumference, biliac and bi-acromial diameters were measured in 52 non-treated TS patients, 30 treated with rhGH and 133 healthy women. Results: Age at the start of rhGH therapy varied from 7.8 to 15.1 yr (10.0 +/- 1.3 yr), the duration of treatment from 2.8 to 8.2 yr (3.7 +/- 1.5 yr) and the mean recombinant human GH (rhGH) dose was 0.42 mg/kg/week (from 0.32 to 0.50 mg/kg/week). Non-treated patients did not show any difference in anthropometric variables when compared with the treated ones, except for hand length (p=0.02) and height (p=0.05), which were increased in the treated group. All anthropometric variables, except head circumference, were different when comparing TS patients (either treated or not) with age-matched healthy women. Conclusion: Brazilian TS patients either treated or not with rhGH showed almost no differences in terms of their body proportions. This result is probably due to the late age at the start of treatment, and/or the short period of rhGH administration. Hand length was different between the groups, showing the importance of including the extremities in body proportion assessment during rhGH treatment of TS patients. (J. Endocrinol. Invest. 33: 691-695, 2010) (C) 2010, Editrice Kurtis3310691695Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES
EFFEcts of somatostatin analogues on acromegalic cardiomyopathy: results from a prospective study using cardiac magnetic resonance
No full textObjective: Left ventricular (LV) hypertrophy is the main finding of patients with active acromegaly at cardiac magnetic resonance (CMR). The aim of the study was to evaluate heart changes in acromegalic patients treated with somatostatin analogues (SMSA) using CMR. Design and patients: This was a prospective study. Fourteen consecutive patients (8 women, mean age 46 +/- 10 yr) with untreated active acromegaly were submitted to CMR and 2D-color Doppler echocardiography before and after a 6-month SMSA course. Measurements: LV volume, mass (LVM) and wall thickness. Results: CMR: Mean LVM and LVM index (i) decreased from 151 +/- 17 g and 77 +/- 9 g/m(2), to 144 +/- 24 g and 70 +/- 12 g/m(2), respectively (p=0.047 and p<0.0001, respectively); LV hypertrophy reverted in 6 out of 10 patients (p=0.016). Systolic function, evaluated by measuring LV ejection fraction remained normal in all patients (67 +/- 11%). There was not a correlation between changes in LVMi and changes in serum IGF-I concentrations. However, patients with controlled disease had higher reduction of LVMi than those with uncontrolled acromegaly (Delta LVMi, -8.2 +/- 4.2 vs 4.0 +/- 5.3 p<0.05). 2D-echocardiography: Mean LVMi decreased from 110 +/- 24 g/m(2) to 100 +/- 20 g/m(2) (p=0.026); hypertrophy, revealed in 5 patients (36%) at baseline, reversed in 2 patients (p=0.500) after SMSA; abnormal diastolic function [evaluated by isovolumic relaxation time or early (E) to late of atrial (A) peak velocities ratio] found in 4 patients (29%) at the study entry, improved in a patient. Systolic function remained within the normal range in all patients during the study period. Conclusions: CMR detects changes in LVMi in most patients with acromegaly treated with SMSA, which are more evident if the disease is controlled. (J. Endocrinol. Invest. 33: 103-108, 2010) (C) 2010, Editrice Kurti
Adiponectin is related to intramyocellular lipid content in non-diabetic adults
No full textConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Objective: Insulin resistance (IR) is associated with intramyocellular lipid (IMCL) content and low serum adiponectin (ADP) levels and ADP is also involved in muscle fat oxidation. However, the relationship between ADP and IMCL content is still controversial and in this study we explored it further in non-diabetic adults. Design: Cross-sectional clinical study. Subjects: Thirty-three adult subjects, 24 obese non-diabetic patients with metabolic syndrome (MS) and 9 lean healthy controls. Measurements: Proton nuclear magnetic resonance spectroscopy ((1)H-NMRS) was performed to quantify IMCL content. The latter plus serum ADP, anthropometrics and biochemical parameters were evaluated and compared in these 2 groups. Results: MS patients had higher body mass index, waist, waist-to-hip ratio, glucose, insulin, and triglycerides and lower HDL cholesterol (HDL(c)) compared to controls. Homeostasis model assessment of IR (HOMA-IR) [3.25 (2.58-4.13) vs 1.02 (0.73-1.29); p<0.0001] and IMCL content [266.1 (189.9-296.3) vs 72.85 (55.3-109.4) AU, p<0.0001] were higher, and quantitative insulin-sensitivity check index (QUICK!) [0.32 (0.31-0.33) vs 0.38 (0.37-0.40); p<0.0001] and ADP [8.6 (4.05-15.95) vs 21.1 (12.9-24.4) mu g/ml; p=0.02] were lower in MS subjects compared to controls. IMCL content was directly associated to glucose, insulin, triglycerides, and HOMA-IR and inversely to HDLc, QUICK! and, more importantly, to ADP (r=-0.41; p<0.05). Only in the MS group, ADP partially influenced IMCL content. Conclusion: ADP is inversely related to IMCL content in non-diabetic adults. This finding has possible implications for the role of ADP in muscle fat oxidation, IR, and MS. (J. Endocrinol. Invest. 33: 382-387, 2010) (C)2010, Editrice Kurtis336382387Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)CNPq [CNPq]Research Supporting Agency of Rio de Janeiro State (FAPERJ) [E-26/150.141/99, E-26/170.522/00
- …
