Heterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening

Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281 L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3′ end intron 4 and 5′ end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies.52813881392White, P.C., Speiser, P.W., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2000) Endocr Rev, 21, pp. 245-291Riepe, F.G., Sippell, W.G., Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2007) Rev Endocr Metab Disord, 8 (4), pp. 349-363New, M., Lorenzen, F., Lerner, A.J., Kohn, B., Oberfield, S.E., Pollack, M.S., Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data (1983) J Clin Endocrinol Metab, 57, pp. 320-326Azziz, R., Hincapie, L.A., Knochenhauer, E.S., Dewailly, D., Fox, L., Boots, L.R., Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women (1999) Fertil Steril, 72, pp. 915-925Bachega, T.A., Brenlha, E.M., Billerbeck, A.E., Marcondes, J.A., Madureira, G., Arnhold, I.J., Mendonca, B.B., Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations (2002) J Clin Endocrinol Metab, 87 (2), pp. 786-790Pang, S., Hotchkiss, J., Drash, A.L., Levine, L.S., New, M., Microfilter paper method for 17-hydroxyprogesterone radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia (1977) J Clin Endocrinol Metab, 45, pp. 1003-1008Valentino, R., Tommaselli, A.P., Rossi, R., Lombardi, G., Varrone, S., A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-hydroxylase deficiency in Campania region (1990) J Endocrinol lnvest, 13, pp. 221-225Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., Sander, J., Newborn screening for congenital adrenal hyperplasia: Additional steroid profile using liquid chromatography-tandem mass spectrometry (2007) J Clin Endocrinol Metab, 92 (7), pp. 2581-2589Pang, S., Murphey, W., Levine, L.S., Lorenzen, F., Levy, D., Lerner, A.J., Rondanini, G.F., New, M., A pilot newborn screening for congenital adrenal hyperplasia in Alaska (1982) J Clin Endocrinol Metab, 55, pp. 413-420Nordenström, A., Wedell, A., Hagenfeldt, L., Marcus, C., Larsson, A., Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants (2001) Pediatrics, 108 (4), pp. E68Cardoso, C.B., Fonseca, A.A., Oliveira Mde, F., Pereira, B.B., Guimarães, M.M., Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience. 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Nationwide Multicenter Study On The Prevalence Of Overweight And Obesity In Type 2 Diabetes Mellitus In The Brazilian Population [prevalência De Sobrepeso E Obesidade Em Pacientes Com Diabetes Mellitus Do Tipo 2 No Brasil: Estudo Multicêntrico Nacional]

Aim: To evaluate the prevalence of overweight and obesity in type 2 diabetic (DM2) outpatients from different regions of Brazil. Patients and Methods: We studied 2,519 randomly selected patients, from 11 hospitals, 2 endocrine and one general public care clinics from 10 cities. Overweight was defined as body-mass index (BMI) &gt; 25 and obesity as BMI &gt; 30 kg/m 2. Glycemic control (GC) was evaluated by GC index (GCI= patient's HbA 1 or HbA 1c/upper limit of normal for the method x 100). Results: 39% of the population studied was male, the mean age was 58.8 ± 11.6 y, the duration from clinical diagnosis of DM2 was 9.0 ± 7.3y, and BMI was 28.3 ± 5.2 kg/m 2. No measurements of BMI were recorded from 265 patients (10.5%). Patients from the Northeast presented lower BMI as compared with those from the Midwest, Southeast and South areas, respectively (26.4 ± 4.7 vs. 27.9 ± 4.8 vs. 29.2 ± 5.1 vs. 29.4 ± 5.4 kg/m 2; p&lt; 0.001). A greater prevalence of obesity was observed in the Southeast and South areas as compared to the Northeast (p&lt; 0.001), as well as in the female group, respectively (69% vs. 31%; p&lt; 0.001). Normal weight patients presented lower GCI. Patients being treated with two or more oral drugs and an association of insulin plus oral drug presented greater BMI values than those being treated with diet, oral hypoglycemic agents and insulin p&lt; 0.001. The BMI of patients treated by a specialist did not differ from those treated by a generalist. Conclusions: 75% of our sample was out of adequate BMI and 30% was obese. The percentage of patients with overweight and obesity was comparable to those found in similar European studies but still lower than those found in the USA. The prevalence of obesity in diabetic patients was three times higher than in the overall Brazilian population according to data from the Brazilian Institute of Geography and Statistics (IBGE).501136144(1997) Obesity: Preventing and Managing the Global Epidemic, , GenevaMONICA Project: Risk Factors (1989) Int J Epidemiol, 18 (1 SUPPL.), pp. S46-55Grundy, S.M., Brewer, B., Cleeman, J.I., Smith, S.C., Lenfant, C., Report of the National Heart, Lung, and Blood Institute/American Heart Association Conference on Scientific Issues Related to Definition (2004) Circulation, 109, pp. 433-438Knowler, W.C., Barrett-Connor, E., Fowler, S.E., Hamman, R.F., Lachin, J.M., Walker, E.A., Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin (2002) N Engl J Med, 346, pp. 393-403Erberly, L.E., Cohen, J.D., Prineas, R., Yang, L., (2003) Diabetes Care, 26, pp. 848-854. , For the Multiple Risk factor Intervention Trial Research GroupHaffner, S.M., Lehto, S., Ronemaa, T., Pyorala, K., Laakso, M., Mortality from coronary heart disease in subjects with type 2 diabetes and non diabetic subjects with and without prior myocardial infarction (1998) N Engl J Med, 339, pp. 229-234Cunha, E.F., Marques, E.P., Gomes, M.B., Perfil de pacientes diabéticos internados em Hospital Universitário do Rio de Janeiro (1995) Arq Bras Endocrinol Metab, 39, pp. 111-115Wild, S., Roglic, G., Green, A., Sicree, R., King, H., Global prevalences of diabetes. 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A cooperative Latin American implementation study (PEDNID-LA) (2001) Diabetes Care, 24, pp. 1001-1007Pyörälä, K., Lehto, S., De Bacquer, D., De Sutter, J., Sans, S., Keil, U., Risk factor management in diabetic and non-diabetic patients with coronary heart disease. Findings from the EUROSPIRE I and II surveys (2004) Diabetologia, 47, pp. 1257-1265Renehan, A., Howell, A., Preventing cancer, cardiovascular disease, and diabetes (2005) Lancet, 365, pp. 1449-1451American Diabetes Association: Clinical Practice Recommendations 2004: Position Statement (2004) Diabetes Care, 27 (1 SUPPL.), pp. S15-35Chase, H.P., Jackson, W.E., Hoops, S.L., Cockerham, R.S., Archer, P.G., O'Brien, D., Glucose control and the renal and retinal complications of insulin-dependent diabetes (1989) JAMA, 261, pp. 1155-1160Calle, E.E., Thun, M.J., Petrelli, J.M., Rodriguez, C., Heath, C.W., Body-mass index and mortality in a prospective cohort of US adults (1999) N Engl J Med, 341, pp. 1097-1105The Seventh report of the Joint National Committee on Prevention, Detection, Evaluation and Treatment of High Blood Pressure (JNC VII) (2003) JAMA, 289, pp. 2560-2572De Backer, G., Evidence-based goals (2000) Atherosclerosis, (2 SUPPL.), pp. 13-17Hippisley-Cox, J., Pringle, M., Prevalence, care, and outcomes for patients with diet-controlled diabetes in general practice: Cross-sectional survey (2004) Lancet, 364, pp. 423-428Davidson, M.B., Diabetes research and diabetes care. Where did we stand? (1998) Diabetes Care, 21, pp. 2152-2160McClain, M.R., Wenneberg, D.E., Sherwin, R.W., Steinmann, W.C., Rice, J.C., Trends in the diabetes quality improvement project measures in Maine from 1994 to 1999 (2003) Diabetes Care, 26, pp. 597-601Brown, J.B., Nichols, G.A., Perry, A.P., The burden of treatment failure in type 2 diabetes (2004) Diabetes Care, 27, pp. 1535-1540McFarlane, S.I., Jacober, S.J., Winer, N., Kaur, J., Castro, J.P., Wui, M.L.A., Control of cardiovascular risk factors in patients with diabetes and hypertension at urban academic medical centers (2002) Diabetes Care, 25, pp. 718-723Suwattee, P., Lynch, J.C., Pendergrass, M.L., Quality of care for diabetic patients in a large urban public hospital (2003) Diabetes Care, 26, pp. 563-568Saydah, S.H., Fradkin, J., Cowie, C.C., Poor control of risk factors for vascular disease among adults with previously diagnosed diabetes (2004) JAMA, 291, pp. 335-342Renders, C.M., Valk, G.D., Franse, L.V., Schellevis, F.G., Van Eijik, J.T., Van Der Wal, G., Long-term effectiveness of a quality improvement program for patients with type 2 diabetes in general practice (2001) Diabetes Care, 24, pp. 1365-1370Sichieri, R., Coutinho, D.C., Leão, M.M., Elisabetta, R., Everhart, J.E., High temporal, geographic, and income variation in body mass index among adults in Brazil (1994) Am J Pub Health, 84, pp. 793-798Monteiro, C.A., Conde, W.L., A tendência secular da obesidade segundo estratos sociais: Nordeste e Sudeste do Brasil, 1975-1989-1997 (1999) Arq Bras Endocrinol Metab, 43, pp. 186-194(2005) Consumer Expenditure Survey, , http://www.ibge.gov.br/english, 28 de abrilSchaan, B.A., Harzheim, E., Gus, I., Perfil de risco cardíaco no diabetes mellitus e na glicemia de jejum alterada (2004) Rev Saúde Pública, 38, pp. 529-536Isoma, B., Almgren, P., Henricsson, M., Chronic complications in patients with slowly progressing autoimmune type 1 diabetes (LADA) (1999) Diabetes Care, 22, pp. 1347-1353Koro, C.E., Bowlin, S.J., Bourgeouis, N., Fedder, D.O., Glycemic control from 1998 to 2000 among US adults diagnosed with type 2 diabetes (2004) Diabetes Care, 27, pp. 17-20Grant, R.W., Buse, J.B., Meigs, J.B., (2005) Diabetes Care, 28, p. 337. , Diabetes Benchmarking Project TeamFleming, B., Greenfield, S., Engelgau, M.M., Pogach, L.M., Clauser, S.B., Parrot, M.A., The diabetes quality improvement project (2003) Diabetes Care, 24, pp. 1815-182

Caracterização das fibras musculares do músculo Semitendinosus de bezerros mestiços Angus-Nelore recebendo somatotropina bovina recombinante (rbST) até a desmama Characterization of Semitendinosus muscle fibers in pre-weaning Angus-Nellore crossbred calves receiving recombinant bovine somatotropin (rbST)

Objetivando-se estudar o efeito da somatotropina bovina recombinante (rbST) sobre a freqüência de distribuição e o diâmetro das fibras musculares do músculo Semitendinosus, 36 bezerros mestiços ½Angus-Nelore, com idade inicial de 63 ± 17 dias e pesando 76,8 ± 14,7 kg, criados em pastagem de Brachiaria decumbens e suplementados em creep feeding, foram submetidos a dois tratamentos até a desmama (217 dias): 18 bezerros receberam 1,4 mg/kg de rbST (Boostin®) a cada 14 dias e 18 receberam solução salina (controle). As amostras de músculo foram coletadas aos 117 (biópsia) e aos 217 dias de idade, quando foram abatidos cinco animais por tratamento. Os animais suplementados apresentaram maior diâmetro para as fibras do tipo glicolítica de contração rápida (FG) aos 117 dias e tendência de aumento aos 217 dias e não diferiram em relação ao grupo controle quanto ao diâmetro das fibras oxidativas-glicolíticas de contração rápida (FOG) e oxidativas de contração lenta (SO) e à frequência de FG, FOG e SO aos 117 e 217 dias de idade. Independentemente da aplicação de rbST, houve significativo aumento do diâmetro das fibras SO e FOG, tendência de aumento de diâmetro das fibras FG, maior frequência de SO e redução da frequência de FG entre 117 e 217 dias de idade. A utilização de somatotropina exógena possibilitou maior hipertrofia das fibras musculares brancas de contração rápida em bezerros suplementados em creep feeding durante a fase de cria, sem interferir na frequência de distribuição dos tipos de fibras no músculo Semitendinosus.<br>The objective of this experiment was to study the effect of the recombinant bovine somatotropin (rbST) on the percentage distribution and diameter of semitendinosus muscle fibers. Thirty-six ½ Angus-Nellore crossbred bull calves, 63 ± 17 days old and weighting 76.8 ± 14.7 kg, raised in Brachiaria decumbens pastures and creep fed, were assigned to one of two treatments until weaning (217 days): eighteen calves received 1.4 mg/kg of rbST (Boostin®) every 14 days and eighteen control calves received saline solution. Muscle samples were taken at 117 trough biopsy and at 217 days old when five animals from each treatment were slaughtered. The rbST-treated calves had greater fast-twich-glycolytic (FG) fiber diameter than control ones at 117 days and tended to have great diameter at 217 days. No differences in fast-twich- glycolytic-oxidative (FOG) and slow-twich-oxidative (SO) diameter and FG, FOG and SO percentage distribution were observed at 117 and 217 days. Despite the rbST treatment, there was a significant enlarge in SO and FOG fibers diameter, a tendency for increase in FG fibers diameter, an increase in SO and reduction in FG percentage distribution from 117 to 217 days. The somatotropin administration caused a greater hypertrophy of the white fast twitch muscle fibers in creep fed bull calves, but did not affect the percentage distribution of semitendinosus muscle fibers

Transverse momentum spectra of charged particles in proton-proton collisions at 1as=900 GeV with ALICE at the LHC

The inclusive charged particle transverse momentum distribution is measured in proton-proton collisions at s=900 GeV at the LHC using the ALICE detector. The measurement is performed in the central pseudorapidity region (|\u3b7|<0.8) over the transverse momentum range 0.15<10 GeV/c. The correlation between transverse momentum and particle multiplicity is also studied. Results are presented for inelastic (INEL) and non-single-diffractive (NSD) events. The average transverse momentum for |\u3b7|<0.8 is \u3008pT\u3009INEL=0.483\ub10.001 (stat.)\ub10.007 (syst.) GeV/c and \u3008pT\u3009NSD=0.489\ub10.001 (stat.)\ub10.007 (syst.) GeV/c, respectively. The data exhibit a slightly larger \u3008pT\u3009 than measurements in wider pseudorapidity intervals. The results are compared to simulations with the Monte Carlo event generators PYTHIA and PHOJET. \ua9 2010