Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.

OBJECTIVES: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 was recently described, resulting from a CYP21A2 complete deletion that extends into the TNXB. This haploinsufficiency of TNX may be associated with a mild hypermobility form of EDS, as well as other connective tissue comorbidities such as hernia, cardiac defects and chronic arthralgia. CASE PRESENTATION: We report four patients heterozygous for a CAH-X CH-1 allele that do not present clinical manifestations of the EDS. CONCLUSIONS: All CAH patients, carriers of these TNXA/TNXB chimeras, should be evaluated for clinical manifestations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better clinical surveillance management.

COVID-19 in two children with new-onset diabetes: case reports.

Delayed diagnosis, low socioeconomic status and infection have been associated with diabetic ketoacidosis (DKA) at type 1 diabetes mellitus presentation. A teenager from a low socioeconomic status family, with longstanding weight loss, polyphagia, polyuria, vomiting and abdominal pain, attended the emergency department, also complaining of anosmia and odynophagia. He was diagnosed with COVID-19 and new-onset DKA. The second child had 2 weeks of diabetes symptoms and was admitted with new-onset mild DKA. SARS-CoV-2 RT-PCR test was positive, although asymptomatic. Persistent hyperglycaemia with high insulin requirements was a common feature to both patients. Both cases support that SARS-CoV-2 may have an association with rapidly increasing insulin daily needs. In case one, not only fear of COVID-19 delayed hospital attendance but also the setting of a low socioeconomic status family appears to have enhanced the risk for late diagnosis and challenging disease management.

Naturally occurring radioactive material and risk assessment of tailings of polymetallic and Ra/U mines from legacy sites.

Old mine tailings from Northern and Central Portugal were studied in order to perform a radiological and chemical characterization. The evaluation of massic activity of natural radionuclides and concentrations in tailings of polymetallic and Ra/U mines was performed by gamma spectrometry and neutron activation analysis. Iron speciation was carried out by Mössbauer spectroscopy. In polymetallic tailings with physical ore processing (Cumieira and Verdes - exploited for Sn, Nb-Ta) higher contents of Th, 228Ra and 226Ra in the coarser materials occur, probably due to their presence in host rock and ore fragments. In finer tailings, washing may explain the lower 226Ra and 210Pb massic activity. In tailings with physical/chemical ore processing (Covas - exploited for W and Sn) high U contents and a tendency for higher 226Ra and 210Pb massic activity in the fine materials is observed, probably due to their incorporation in nano-sized particles of iron oxides. A high variation of the 210Pb/226Ra ratio occurs in polymetallic tailings; a deficit of 210Pb can be observed particularly in deposits of settling tanks drained from dumps of chemically treated ore. In Ervideira-Mestras tailings (Ra/U exploitation) where no ore process in situ was performed, a near equilibrium between 210Pb and 226Ra occurs. Dose risk assessment was carried out by calculating external outdoor Annual Effective Dose Rate; the dose rates in air due to terrestrial gamma radiation are low for the polymetallic tailings (<47 nGy/h), and higher for tailings of Ra/U (up to 4130 nGy/h), in the worst scenario.

Fat mass index performs best in monitoring management of obesity in prepubertal children / Índice de massa gorda apresenta melhor desempenho no monitoramento do tratamento da obesidade em crianças pré-púberes

Abstract Objective An early and accurate recognition of success in treating obesity may increase the compliance of obese children and their families to intervention programs. This observational, prospective study aimed to evaluate the ability and the time to detect a significant reduction of adiposity estimated by body mass index (BMI), percentage of fat mass (%FM), and fat mass index (FMI) during weight management in prepubertal obese children. Methods In a cohort of 60 prepubertal obese children aged 3–9 years included in an outpatient weight management program, BMI, %FM, and FMI were monitored monthly; the last two measurements were assessed using air displacement plethysmography. The outcome measures were the reduction of >5% of each indicator and the time to achieve it. Results The rate of detection of the outcome was 33.3% (95% CI: 25.9–41.6) using BMI, significantly lower (p < 0.001) than either 63.3% using %FM (95% CI: 50.6–74.8) or 70.0% (95% CI: 57.5–80.1) using FMI. The median time to detect the outcome was 71 days using FMI, shorter than 88 days using %FM, and similar to 70 days using BMI. The agreement between the outcome detected by FMI and by %FM was high (kappa 0.701), but very low between the success detected by BMI and either FMI (kappa 0.231) or %FM (kappa 0.125). Conclusions FMI achieved the best combination of ability and swiftness to identify reduction of adiposity during monitoring of weight management in prepubertal obese children.

Resumo Objetivo O reconhecimento precoce e preciso do sucesso no tratamento da obesidade pode aumentar a adesão de crianças obesas e suas famílias a programas de intervenção. Este estudo observacional prospectivo visa a avaliar a capacidade e o tempo de detecção de uma redução significativa na adiposidade estimada pelo índice de massa corporal (IMC) no percentual de massa gorda (% MG) e no índice de massa gorda (IMG) durante o controle de peso em crianças obesas pré-púberes. Métodos Em uma coorte de 60 crianças obesas pré-púberes entre três e nove anos, incluídas em um programa ambulatorial de controle de peso, o IMC, o % MG e o IMG foram monitorados mensalmente e as duas últimas medições avaliadas foram feitas com pletismografia por deslocamento de ar. As medições resultantes foram redução de > 5% de cada indicador e atingir o tempo para tanto. Resultados A taxa de detecção do resultado foi de 33,3% (IC de 95% 25,9-41,6) com o uso de IMC, significativamente menor (p < 0,001) do que 63,3% com % MG (IC de 95% 50,6-74,8) ou 70,0% (IC de 95% 57,5-80,1) com IMG. O tempo médio para detectar o resultado foi de 71 dias com o IMG, menos do que 88 dias com %MG e semelhante a 70 dias com o IMC. A concordância entre o resultado detectado pelo IMG e pelo % MG foi elevada (kappa 0,701), porém muito baixa entre o sucesso detectado pelo IMC e pelo IMG (kappa 0,231) ou %MG (kappa 0,125). Conclusões O IMG atingiu a melhor combinação de capacidade e precocidade para identificar redução na adiposidade durante o monitoramento do controle de peso em crianças obesas pré-púberes.

Fat mass index performs best in monitoring management of obesity in prepubertal children.

OBJECTIVE: An early and accurate recognition of success in treating obesity may increase the compliance of obese children and their families to intervention programs. This observational, prospective study aimed to evaluate the ability and the time to detect a significant reduction of adiposity estimated by body mass index (BMI), percentage of fat mass (%FM), and fat mass index (FMI) during weight management in prepubertal obese children. METHODS: In a cohort of 60 prepubertal obese children aged 3-9 years included in an outpatient weight management program, BMI, %FM, and FMI were monitored monthly; the last two measurements were assessed using air displacement plethysmography. The outcome measures were the reduction of >5% of each indicator and the time to achieve it. RESULTS: The rate of detection of the outcome was 33.3% (95% CI: 25.9-41.6) using BMI, significantly lower (p<0.001) than either 63.3% using %FM (95% CI: 50.6-74.8) or 70.0% (95% CI: 57.5-80.1) using FMI. The median time to detect the outcome was 71 days using FMI, shorter than 88 days using %FM, and similar to 70 days using BMI. The agreement between the outcome detected by FMI and by %FM was high (kappa 0.701), but very low between the success detected by BMI and either FMI (kappa 0.231) or %FM (kappa 0.125). CONCLUSIONS: FMI achieved the best combination of ability and swiftness to identify reduction of adiposity during monitoring of weight management in prepubertal obese children.