Cohort Profile: Burden of Obstructive Lung Disease (BOLD) study

The Burden of Obstructive Lung Disease (BOLD) study was established to assess the prevalence of chronic airflow obstruction, a key characteristic of chronic obstructive pulmonary disease, and its risk factors in adults (≥40 years) from general populations across the world. The baseline study was conducted between 2003 and 2016, in 41 sites across Africa, Asia, Europe, North America, the Caribbean and Oceania, and collected high-quality pre- and post-bronchodilator spirometry from 28 828 participants. The follow-up study was conducted between 2019 and 2021, in 18 sites across Africa, Asia, Europe and the Caribbean. At baseline, there were in these sites 12 502 participants with high-quality spirometry. A total of 6452 were followed up, with 5936 completing the study core questionnaire. Of these, 4044 also provided high-quality pre- and post-bronchodilator spirometry. On both occasions, the core questionnaire covered information on respiratory symptoms, doctor diagnoses, health care use, medication use and ealth status, as well as potential risk factors. Information on occupation, environmental exposures and diet was also collected

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeated pregnancy loss because of the development of the conceptus into a complete hydatidiform mole in which extraembryonic trophoblastic tissue develops but the embryo itself suffers early demise. This developmental phenotype results from a genome-wide failure to correctly specify or maintain a maternal epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome

Parâmetros eletrocardiográficos de equinos Puro Sangue Árabe submetidos a exercício prolongado de enduro Electrocardiographic parameters of Arabian horses submitted to prolonged exercise of endurance

Foram estabelecidos os parâmetros eletrocardiográficos de 20 equinos Puro Sangue Árabe em repouso e após exercício prolongado de enduro. A frequência cardíaca média foi de 35,85bpm em repouso, com predominância do ritmo sinusal, e de 53,78bpm, com taquicardia sinusal após o exercício. Como variação fisiológica, observou-se marcapasso migratório, e como não fisiológica, complexo ventricular prematuro. No pós-exercício, ocorreu aumento da amplitude das ondas P, R, S e T, com onda P tendendo a se tornar única em 35% dos animais e bífida positiva em 65%, e a onda T monofásica positiva. Houve redução da duração das ondas, dos intervalos e dos segmentos, e alongamento do QTc; porém, o complexo QRS quase não se alterou. O eixo elétrico, no plano frontal, apresentou desvios à direita e à esquerda em repouso sugestivo de aumento de câmara e hipertrofia secundárias ao treinamento, ao passo que, após o exercício, demonstrou desvio extremo para a direita, indicando alterações eletrolíticas. O escore cardíaco médio foi de 128,45ms, o que caracteriza os animais como atletas, sendo reduzido a 118,60ms após o exercício.<br>Electrocardiographic parameters of 20 Thoroughbred Arabian horses were established at rest and after prolonged endurance exercise. The mean heart rate was 35.85bpm at rest with predominant sinus rhythm, and 53.78bpm with sinus tachycardia after exercise. As physiological variation, wandering pacemaker was observed, and as non physiological, premature ventricular complex was noted. At post-exercise there was an increase of the amplitude of waves P, R, S and T, with P wave tending to become single in 35% of the animals and bifid positive in 65%, and with monophase positive T wave. There was a reduction in the duration of the waves, intervals and segments, and elongation of QTc, but the QRS complex hardly changed. The electrical axis in the frontal plane showed deviations to the right and to the left at rest, suggesting chamber enlargement and hypertrophy secondary to training, while after the exercise it showed extreme deviation to the right, indicating electrolyte imbalances. The average heart score was 128.45ms, which features the animals as athletes, being reduced to 118.60ms after exercise