Monthly Analysis of Infant Mortality Rate in Portugal during the COVID-19 Pandemic: Insights from Continuous Monitoring.

INTRODUCTION: The COVID-19 pandemic significantly impacted global public health. Infant mortality rate (IMR), a vital statistic and key indicator of a population's overall health, is essential for developing effective health prevention programs. Existing evidence primarily indicates a decrease in IMR during the COVID-19 pandemic. We conducted a national-level analysis to calculate IMR and describe its course over the years (from 2016 until 2022), using a month-by-month analysis. METHODS: Data on the number of deaths under one year of age was collected from the Portuguese E-Death Certification System (SICO), and data on the number of monthly live births was obtained from Statistics Portugal. The IMR was calculated per month, considering the previous 12 months' cumulative number of deaths under one year of age and the number of live births. RESULTS: In Portugal, the IMR decreased before and during the COVID-19 pandemic. The lowest values were observed in September and October 2021 (2.15 and 2.14 per 1000 live births, respectively). The IMR remained below the threshold of three deaths per 1000 live births during the pandemic's critical period. CONCLUSION: Portugal has achieved remarkable progress in reducing its IMR over the last 60 years. The country recorded its lowest-ever IMR values during the COVID-19 pandemic. Further studies are needed to fully understand the observed trends.

Preterm birth characteristics and outcomes in Portugal, between 2010 and 2018-A cross-sectional sequential study.

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.

COVID-19 in Portugal: a retrospective review of paediatric cases, hospital and PICU admissions in the first pandemic year.

BACKGROUND: COVID-19 is considered by WHO a pandemic with public health emergency repercussions. Children often develop a mild disease with good prognosis and the recognition of children at risk is essential to successfully manage paediatric COVID-19. Quality epidemiological surveillance data are required to characterise and assess the pandemic. METHODS: Data on all reported paediatric COVID-19 cases, in Portugal, were retrospectively assessed from a fully anonymised dataset provided by the Directorate General for Health (DGS). Paediatric hospital admission results were obtained from the DGS vaccine recommendations and paediatric intensive care unit (PICU) admission results from the EPICENTRE.PT group. Reported cases and PICU admissions from March 2020 to February 2021 and hospital admissions between March and December 2020 were analysed. RESULTS: 92 051 COVID-19 cases were studied, 50.5% males, average age of 10.1 years, corresponding to 5.4% of children in Portugal. The most common symptoms were cough and fever, whereas gastrointestinal symptoms were infrequent. The most common comorbidity was asthma. A high rate of missing surveillance data was noticed, on presentation of disease and comorbidity variables, which warrants a cautious interpretation of results. Hospital admission was required in 0.93% of cases and PICU on 3.48 per 10 000 cases. PICU admission for Multisystem Inflammatory Syndrome in Children (MIS-C) was more frequent in children with no comorbidities and males, severe COVID-19 was rarer and occurred mainly in females and infants. Case fatality rate and mortality rates were low, 1.8 per 100 000 cases and 1.2 per 1 000 000 cases, respectively. CONCLUSIONS: The overall reported case incidence was 5.4 per 100 children and adolescents and <1% of cases required hospital admission. MIS-C was more frequent in patients with no comorbidities and males. Mortality and case fatality rates were low. Geographic adapted strategies, and information systems to facilitate surveillance are required to improve surveillance data quality.

Improving morbidity information in Portugal: Evidence from data linkage of COVID-19 cases surveillance and mortality systems.

BACKGROUND: COVID-19 rapidly spread around the world, putting health systems under unprecedented pressure and continuous adaptations. Well-established health information systems (HIS) are crucial in providing data to allow evidence-based policymaking and public health interventions in the pandemic response. This study aimed to compare morbidity information between two databases for COVID-19 management in Portugal and identify potential complementarities. METHODS: This is an observational study using records from both COVID-19 cases surveillance (National Epidemiological Surveillance System; SINAVE) and related deaths (National e-Death Certificates Information System; SICO) systems, which were matched on sex, age, municipality of residence and date of death. After the linkage, morbidity reported in SINAVE and identified in SICO, through the application of Charlson and Elixhauser comorbidity indexes algorithms, were compared to evaluate agreement level. RESULTS: Overall, 2285 matched cases were analyzed, including 53.9% males with a median age of 84 years. According to the method of data reporting assessment, the presence of any morbidity ranged between 26.3% and 62.5%. The reporting of ten morbidities could be compared between the information reported in SINAVE and SICO databases. The proportion of simultaneous reporting in both databases ranged between 5.7% for diabetes and 0.0% for human immunodeficiency virus infection or coagulopathy. Minimal or no agreement was found when assessing the similarity of the morbidity reporting in both databases, with neoplasms showing the highest level of agreement (0.352, 95% IC: 0.277-0.428; p < 0.001). CONCLUSION: Different information about reported morbidity could be found in two HIS used to monitor COVID-19 cases and related deaths, as data are independently collected. These results show that the interoperability of SICO and SINAVE databases would potentially improve available HIS and improve available information to decision-making and address COVID-19 pandemic management.

Multimorbidity Profile of COVID-19 Deaths in Portugal during 2020.

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.

El COVID-19 en barrios populares. Características del COVID-19 en el área de responsabilidad de un centro de salud de la Ciudad de Buenos Aires / COVID-19 in informal settlements. COVID-19´s characteristics in the area of responsibility of a primary health care center in Buenos Aires City

Introducción: El objetivo de este trabajo es caracterizar y describir los casos de COVID-19 según residan en barrios populares o en el resto del área de un centro de salud. Materiales y métodos: Estudio descriptivo, observacional y transversal. La unidad de análisis son los casos confirmados de COVID-19 residentes en el área de responsabilidad del Centro de Salud y Acción Comunitaria 28 (en adelante CeSAC 28) de la Ciudad Autónoma de Buenos Aires entre abril y diciembre de 2020. Las variables categóricas fueron expresadas como frecuencia y porcentaje, la variable numérica como mediana. Resultados: Se confirmaron 953 casos, el 57,29 % residentes en barrios populares, entre estos la mediana de edad fue menor y el porcentaje de extranjeros fue mayor en relación al resto del área, probablemente por la estructura demográfica de cada población. Los casos de residentes de barrios populares registraron menor prevalencia de comorbilidades y menor porcentaje de hospitalizaciones. La curva de casos residentes en barrios populares evidenció un desarrollo más precoz y concentrado que la del resto del área. El sistema público de salud tuvo impacto en el diagnóstico de toda el área, siendo alto el diagnóstico a través del Operativo Detectar en los barrios populares. Conclusiones: La epidemia de COVID-19 mostró características específicas en los barrios populares, como mayor velocidad de trasmisión y curvas de casos más concentradas, motivo por lo cual es imprescindible disponer de datos sobre la salud de estas poblaciones para poder identificar necesidades y prioridades en salud y adecuar los servicios a través de la estrategia de atención primaria

Introduction: The aim of this work is to characterize and describe the characteristics of COVID-19 cases according to whether they reside in informal settlements or in the rest of the area of a primary health care center. Materials and methods: Observational, cross-sectional descriptive study. Confirmed cases of COVID-19 living in the area of responsibility of the primary health care center 28 in Buenos Aires City from April to December 2020 were analyzed. Categorical variables were expressed as frequency count and percentages, numerical variable as median. Results: 953 cases were confirmed, 57,29% living in informal settlements. COVID-19 cases living in informal settlements were younger and with more percentage of migrants, probably affected by demographic structure. COVID-19 cases living in informal settlements showed lower comorbidity prevalence and hospitalization. COVID-19 curve was earlier and focused in informal settlements than in the rest of the area. Public health services had impact in the diagnosis in the whole area, in informal settlements was high the diagnosis through Operativos Detectar. Conclusions: COVID-19 epidemic showed specific characteristics in informal settlements, with faster speed of transmission and more concentrated curves. It is essential to have available data about those populations, identify health needs and priorities and update services through primary health care strategy

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

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.

Evaluation of the hypothalamic-pituitary-adrenal axis in a case series of familial partial lipodystrophy.

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.

Abdominal circumference as an indicator of clinical and laboratory parameters associated with obesity in children and adolescents: comparison between two reference tables.

OBJECTIVE: To evaluate the sensitivity and specificity of two pediatric abdominal circumference reference tables to detect abnormally high body mass index, total cholesterol, fasting blood insulin and leptin levels, and homeostasis model assessment values. METHODS: A total of 624 male and female subjects, with ages ranging from 7 to 18 years, were evaluated. All children were recruited from two public schools. Venous blood samples were collected for determination of fasting plasma insulin, glucose, leptin, and total cholesterol levels. Weight, height and abdominal circumference were assessed according to internationally accepted guidelines. Contingency tables were constructed, comparing the presence or absence of increased abdominal circumference, according to cutoff points established by Taylor et al. and Freedman et al., with the presence or absence of abnormal values in the laboratory tests. RESULTS: Sensitivity values were consistently higher for the table by Taylor et al., whereas the table by Freedman et al. showed greater specificity. Positive predictive values were quite low in general, and were only relevant for body mass index. CONCLUSIONS: Results indicate that the table by Taylor et al. is best for screening purposes, as it identifies individuals at higher risk of presenting abnormal test results. On the other hand, the reference table by Freedman et al. is more suitable for clinical practice, as it could be used to replace laboratory measurements, such as blood insulin or leptin levels, which may not be available at all sites.

Circunferência abdominal como indicador de parâmetros clínicos e laboratoriais ligados à obesidade infanto-juvenil: comparação entre duas referências / Abdominal circumference as an indicator of clinical and laboratory parameters associated with obesity in children and adolescents: comparison between two reference tables

OBJETIVO: Avaliar sensibilidade e especificidade de duas tabelas de referência para circunferência abdominal em crianças na detecção de valores elevados de índice de massa corporal, colesterol total, insulinemia de jejum, leptinemia de jejum e homeostasis model assessment. MÉTODOS: Foram avaliados 624 indivíduos, de ambos os sexos, com idades entre 7 e 18 anos, provenientes de duas escolas públicas, obtendo-se amostra de sangue venoso em jejum para dosagens de insulina, glicemia, leptina e colesterol total. Peso, estatura e circunferência abdominal foram aferidos de acordo com recomendações internacionais. Foram montadas tabelas de contingência em que se compararam, de um lado, a presença ou ausência de aumento na circunferência abdominal segundo os pontos de corte propostos de Taylor et al. e Freedman et al. e, de outro, presença ou ausência de valores alterados dos parâmetros avaliados. RESULTADOS: Os valores de sensibilidade foram sempre superiores para a tabela de Taylor et al., ao contrário da especificidade, sempre mais elevada para a tabela de Freedman et al. Os valores preditivos positivos foram, em geral, bastante baixos, mostrando-se relevantes apenas para o indicador índice de massa corpórea. CONCLUSÕES: Os resultados obtidos apontam para que se considere a referência de Taylor et al. melhor do ponto de vista da triagem, selecionando indivíduos com maior probabilidade de apresentarem as alterações estudadas; por outro lado, a referência de Freedman et al. mostrou-se mais adequada para uso clínico, sendo possível a sua utilização para substituir dosagens que possam não estar ao alcance do profissional, como insulinemia e leptinemia.

OBJECTIVE: To evaluate the sensitivity and specificity of two pediatric abdominal circumference reference tables to detect abnormally high body mass index, total cholesterol, fasting blood insulin and leptin levels, and homeostasis model assessment values. METHODS: A total of 624 male and female subjects, with ages ranging from 7 to 18 years, were evaluated. All children were recruited from two public schools. Venous blood samples were collected for determination of fasting plasma insulin, glucose, leptin, and total cholesterol levels. Weight, height and abdominal circumference were assessed according to internationally accepted guidelines. Contingency tables were constructed, comparing the presence or absence of increased abdominal circumference, according to cutoff points established by Taylor et al. and Freedman et al., with the presence or absence of abnormal values in the laboratory tests. RESULTS: Sensitivity values were consistently higher for the table by Taylor et al., whereas the table by Freedman et al. showed greater specificity. Positive predictive values were quite low in general, and were only relevant for body mass index. CONCLUSIONS: Results indicate that the table by Taylor et al. is best for screening purposes, as it identifies individuals at higher risk of presenting abnormal test results. On the other hand, the reference table by Freedman et al. is more suitable for clinical practice, as it could be used to replace laboratory measurements, such as blood insulin or leptin levels, which may not be available at all sites.