Search

Introduction: According to the World Health Organization, 11% of all children are born prematurely, representing 15 million births annually. An extensive analysis on preterm birth, from extreme to late prematurity and associated deaths, has not been published. The authors characterize premature births in Portugal, between 2010 and 2018, according to gestational age, geographic distribution, month, multiple gestations, comorbidities, and outcomes. Methods: A sequential, cross‐sectional, observational epidemiologic study was conducted, and data were collected from the Hospital Morbidity Database, an anonymous administrative database containing information on all hospitalizations in National Health Service hospitals in Portugal, and coded according to the ICD‐9‐CM (International Classification of Diseases), until 2016, and ICD‐10 subsequently. Data from the National Institute of Statistics was utilized to compare the Portuguese population. Data were analyzed using R software. Results: In this 9‐year study, 51.316 births were preterm, representing an overall prematurity rate of 7.7%. Under 29 weeks, birth rates varied between 5.5% and 7.6%, while births between 33 and 36 weeks varied between 76.9% and 81.0%. Urban districts presented the highest preterm rates. Multiple births were 8× more likely preterm and accounted for 37%–42% of all preterm births. Preterm birth rates slightly increased in February, July, August, and October. Overall, respiratory distress syndrome (RDS), sepsis, and intraventricular hemorrhage were the most common morbidities. Preterm mortality rates varied significantly with gestational age. Conclusion: In Portugal, 1 in 13 babies was born prematurely. Prematurity was more common in predominantly urban districts, a surprise finding that warrants further studies. Seasonal preterm variation rates also require further analysis and modelling to factor in heat waves and low temperatures. A decrease in the case rate of RDS and sepsis was observed. Compared with previously published results, preterm mortality per gestational age decreased; however, further improvements are attainable in comparison with other countries. Key points: Study question What are the characteristics of preterm births in Portugal, according to gestational age, geographic distribution, seasonality, multiple gestation, and outcomes?What is already known7.8% of all births in Portugal are preterm. Distinct prematurity urban–rural patterns have been reported in different regions worldwide. Several countries have reported a seasonal prematurity trend. Multiple births are a risk factor for prematurity. Prematurity outcomes are intrinsically related to gestational age.What this study addsOne in 13 babies was born prematurely in Portugal. Under 29 weeks, birth rates varied between 5.5% and 7.6%, and between 33 and 36 weeks varied from 76.9% to 81.0%. Prematurity was more common in predominantly urban districts than rural ones, which was a surprising finding and warrants further studies. Seasonal preterm variation rates also require further analysis. Multiple births were eight times more likely to be preterm. A decrease in the case rate of RDS and sepsis was observed. Preterm mortality per gestational age improvements are attainable compared with other countries. [ABSTRACT FROM AUTHOR]

Background: COVID-19 is caused by SARS-CoV-2 infection and has reached pandemic proportions. Since then, several clinical characteristics have been associated with poor outcomes. This study aimed to describe the morbidity profile of COVID-19 deaths in Portugal. Methods: A study was performed including deaths certificated in Portugal with "COVID-19" (ICD-10: U07.1 or U07.2) coded as the underlying cause of death from the National e-Death Certificates Information System between 16 March and 31 December 2020. Comorbidities were derived from ICD-10 codes using the Charlson and Elixhauser indexes. The resident Portuguese population estimates for 2020 were used. Results: The study included 6701 deaths (death rate: 65.1 deaths/100,000 inhabitants), predominantly males (72.1). The male-to-female mortality ratio was 1.1. The male-to-female mortality rate ratio was 1.2; however, within age groups, it varied 5.0–11.4-fold. COVID-19 deaths in Portugal during 2020 occurred mainly in individuals aged 80 years or older, predominantly in public healthcare institutions. Uncomplicated hypertension, uncomplicated diabetes mellitus, congestive heart failure, renal failure, cardiac arrhythmias, dementia, and cerebrovascular disease were observed among COVID-19 deceased patients, with prevalences higher than 10%. A high prevalence of zero morbidities was registered using both the Elixhauser and Charlson comorbidities lists (above 40.2%). Nevertheless, high multimorbidity was also identified at the time of COVID-19 death (about 36.5%). Higher multimorbidity levels were observed in men, increasing with age up to 80 years old. Zero-morbidity prevalence and high multimorbidity prevalences varied throughout the year 2020, seemingly more elevated in the mortality waves' peaks, suggesting variation according to the degree of disease incidence at a given period. Conclusions: This study provides detailed sociodemographic and clinical information on all certificated deaths from COVID-19 in Portugal during 2020, showing complex and extreme levels of morbidity (zero-morbidity vs. high multimorbidity) dynamics during the first year of the pandemic in Portugal. [ABSTRACT FROM AUTHOR]

Background: Adrenal hypoplasia congenita (AHC) is an X-linked disorder that affects the adrenal cortex and hypothalamus-pituitary-gonadal axis (HPG), leading to primary adrenocortical insufficiency (PAI) and hypogonadotropic hypogonadism. AHC is caused by a mutation in the DAX-1 gene (NR0B1). More commonly, this disease is characterized by early-onset PAI, with symptoms in the first months of life. However, a less severe phenotype termed late-onset AHC has been described, as PAI signs and symptoms may begin in adolescence and adulthood. Here we describe a family report of a novel mutation within NR0B1 gene and variable reproductive phenotypes, including spontaneous fertility, in a very late-onset X-linked AHC kindred. Case presentation: Three affected maternal male relatives had confirmed PAI diagnosis between 30 y and at late 64 y. The X-linked pattern has made the endocrinology team to AHC suspicion. Regarding the HPG axis, all males presented a distinct degree of testosterone deficiency and fertility phenotypes, varying from a variable degree of hypogonadism, oligoasthenoteratozoospermia to spontaneous fertility. Interestingly, the other five maternal male relatives unexpectedly died during early adulthood, most likely due to undiagnosed PAI/adrenal crisis as the probable cause of their premature deaths. Sequencing analysis of the NR0B1 gene has shown a novel NR0B1 mutation (p.Tyr378Cys) that segregated in three AHC family members. Conclusions: NR0B1 p.Tyr378Cys segregates in an AHC family with a variable degree of adrenal and gonadal phenotypes, and its hemizygous trait explains the disease in affected family members. We recommend that NR0B1 mutation carriers, even those that are allegedly asymptomatic, be carefully monitored while reinforcing education to prevent PAI and consider early sperm banking when spermatogenesis still viable. [ABSTRACT FROM AUTHOR]

Copyright of Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación is the property of Federacion Espanola de Asociaciones de Docentes de Educacion Fisica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Familial partial lipodystrophy (FPL) is a rare genetic disease characterized by body fat abnormalities that lead to insulin resistance (IR). Clinical conditions linked to milder IR, such as type 2 diabetes (T2D) and metabolic syndrome, are associated with abnormalities of the hypothalamic–pituitary–adrenal (HPA) axis, but little is known about its activity in FPL. Methods: Patients meeting the clinical criteria for FPL were subjected to anthropometric, biochemical and hormone analyses. A genetic study to identify mutations in the genes encoding peroxisome proliferator-activated receptor gamma (PPARγ) was performed. Polycystic ovary syndrome and hepatic steatosis were investigated, and the patient body compositions were analyzed via dual X-ray energy absorptiometry (DXA). The HPA axis was assessed via basal [cortisol, adrenocorticotrophic hormone (ACTH), cortisol binding globulin, nocturnal salivary cortisol and urinary free cortisol (UFC)] as well as dynamic suppression tests (cortisol post 0.5 mg and post 1 mg dexamethasone). Results: Six patients (five female and one male) aged 17 to 42 years were included. In DXA analyses, the fat mass ratio between the trunk and lower limbs (FMR) was > 1.2 in all phenotypes. One patient had a confirmed mutation in the PPARγ gene: a novel heterozygous substitution of p. Arg 212 Trp (c.634C>T) at exon 5. HPA sensitivity to glucocorticoid feedback was preserved in all six patients, and a trend towards lower basal serum cortisol, serum ACTH and UFC values was observed. Conclusions: Our findings suggest that FPL is not associated with overt abnormalities in the HPA axis, despite a trend towards low-normal basal cortisol and ACTH values and lower UFC levels. These findings suggest that the extreme insulin resistance occurring in FPL may lead to a decrease in HPA axis activity without changing its sensitivity to glucocorticoid feedback, in contrast to the abnormalities in HPA axis function in T2D and common metabolic syndrome. [ABSTRACT FROM AUTHOR]