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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.

In Portugal, there are numerous abandoned mines, many of them derived from an intense activity in massive sulfides. These areas have several environmental problems associated to extreme physicochemical characteristics of their wastes and leachates.In São Domingos mine, there is an additional environmental problem derived from the percolation of acid mine drainage over the slopes. This measure, used in environmental management of waters, contributed to the total degradation of the edaphic system and enrichment of bedrock in potentially toxic elements (PTE). A sustainable strategy for environmental recovery using Technosols, designed specifically for each contaminated or degraded material, has been evaluated in this scenario. A pilot area, with ​​1.5 ha, was rehabilitated by applying a 40 cm layer of Technosol with alkaline and eutrophic properties. A biodiverse plant system with herbaceous and shrubs was applied. The efficiency of the Technosol was evaluated at short-medium term by: a)several indicators associated to plant development (visual signs of phytotoxicity or nutritional deficiency, percentage of plant cover and height) after 15 days, 1, 3 and 6 months, and b)the maintenance of soil properties after 6 months. An area without Technosol application was used as control.In Control area, plant cover was low, with maximum values ​​of 8.8% in the third month and height Spergularia purpurea (dominant species identified) that already existed in the area.In the area with Technosol application, the plants did not show visible signs of phytotoxicity or nutritional deficiency. The percentage of plant cover increases rapidly. After 15 days plant cover was 10–30% and between first and third month, when there were warmer and dry conditions, the coverage increased to 70% and 90%, respectively. After 6 months, coinciding with a change in the vegetative cycle and very dry and hot period from summer, the vegetation only decrease ≈10%. The height varied between 40 to 60 cm, reaching these maximum values in the third month. The plant development remained during the monitoring period. This plant evolution shows the significant water-holding capacity and fertility of the Technosol.After 6 months, Technosol samples maintained the alkaline and eutrophic properties and physico-chemical characteristics (pH 7.5–7.8, 85 g C/kg, 6 g N/kg, Capacity of cation change 54.3–73 cmol+/kg). In the Technosol was not verified an enrichment by PTE, due to its direct contact with acidic and contaminated material. In Control area, the substrate maintained acidic reaction conditions (pH 3.5–3.6), very low fertility and high concentration of several elements.Application of the Technosol contributed to the environmental recovery of mine areas, with very acid material with multielementar contamination where it is inexistent an edaphic system. This green technology is an effective solution to the conversion non-productive areas to productive areas.Acknowledgment: This work was executed by EDM under a concession contract for environmental remediation of legacy mines in Portugal, in collaboration with ISA-ULisboa, LEAF and Inproyen, and was financed by POSEUR EC Cohesion Funds (145/POSEUR/2020). This research is into the scope of the project UID/AGR/04129/2020.

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 Mossbauer 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 (

International audience; Rare Earth Elements (REE) are emergent anthropogenic contaminants. Currently, there are knowledge gaps in assessing the environmental risks posed by these contaminants. High demand for modern technology has led to increased REE use, resulting in elevated REE concentrations in the environment. Therefore, demonstrating a need to understand the behavior, fate, and cycling of REEs as emergent pollutants.The physical and chemical speciation of REE is (i) reflective of their origin and the encountered processes within the environment and (ii) potentially influences their availability and toxicity. To date, very few publications have focused on how the physical and chemical speciation of REE controls phyto-availability. Thus, an evaluation of the spontaneous vegetation at three abandoned mining sites in Portugal was carried out in November 2020 (Figure 1). Spontaneous vegetation and related media (soils and surface waters) were collected from inside and outside of mining areas with the intention of analyzing REE dynamics in rhizosphere soils and subsequent REE dissemination in plants. Trace element concentrations were analyzed in soil and plant samples using inductively coupled plasma mass spectroscopy (ICP-MS). Measurements of key parameters (pH, Eh, and major anions) and determination of dissolved organic carbon and trace element concentrations were performed in water samples by multi-meter, ion chromatography, total carbon-analyzer, and ICP-MS, respectively. Measurements were then used to decipher how the chemical compositions of waters and soils can be linked to that of plants and, more precisely, to the fate of REE in planted environments. Contrasting REE concentrations and patterns were observed in water samples regarding the prevailing environmental conditions.In addition, the complex biogeochemical interactions in rhizospheres potentially alter the speciation and phyto-availability of REE. Therefore, rhizosphere soil samples were paired with bulk soil samples to elucidate the impact of plant and microorganism bioweathering processes on REE speciation.Ultimately, this field study aims to evaluate the environmental risk posed by anthropogenic REE contamination and contribute to a body of knowledge on the circular economy of REE. Further study of plant REE uptake mechanisms and toxicological responses to REE contamination is planned for future laboratory experiments.

Background: The rate of diabetic ketoacidosis in new-onset type 1 diabetes mellitus depends on multiple factors and is very heterogeneous between countries. An inverse relationship between the incidences of T1D and DKA seems to exist. Moreover, DKA is reported to be more common in children under 5 years old. Current data on Portuguese pediatric DKA incidence in new-onset T1D is limited. We aimed to determine the rate of DKA incidence in this population, as well as risk and protective factors.Methods: Review of data from children aged 18 years or younger with new onset T1D, referred to a pediatric endocrinology unit between January 1st, 2013 and December 31th, 2020 (8 years).Results: 276 patients were included with a median age of 9.6 years-old (0.5-17.9 years): 15,6% aged between 2 and 5 years-old and 3,6% under two years. A mean incidence of 34,5 new cases per year was observed, with an upward trend. One hundred and five (38%) presented with DKA, which was considered severe in 9,4%; 50 patients (18,1%) presented only with hyperglycemia. Non-DKA at presentation was associated with family history of T1D (p=0.016). DKA at presentation was more frequent in the age group under 2 years old (p=0.005).Conclusions: DKA’s frequency at new onset T1D is still high, although only a small proportion of cases was considered severe. A family history of T1D correlated with a non-DKA presentation, while an age under 2 years presented as a risk factor for DKA.

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. info:eu-repo/semantics/publishedVersion

A 16-year-old boy presented with progressive and asymptomatic mottled hyperpigmentation that had been there for four years. The lesions had appeared initially on his arms and extended gradually over the years to involve the trunk, face, and extremities (Fig. 1). The palms and soles were prominently involved, and fingernails showed longitudinal hyperpigmented streaks (Fig. 2). The mucous membranes, teeth, and hair appeared normal. Systemic examination was unremarkable, and routine blood investigations were normal on first presentation. Histopathological examination of a skin biopsy revealed a lymphocytic inflammatory infiltrate in the upper dermis with numerous melanophages. Four months later, the patient began to complain of nausea, decreased appetite, significant weight loss, and worsening of cutaneous hyperpigmentation. Laboratory studies were performed, revealing pancytopenia (hemoglobin 8.0 g/dl, mean corpuscular volume 79, whole blood count 1270/mm, platelets 55,000/mm). The blood smear demonstrated marked anisocytosis and poikilocytosis, and the bone marrow aspirate showed megaloblastic changes. Vitamin B12 serum level was low (72.5 pg/ml), and folate level was normal. Anti-intrinsic factor antibody and antiparietal cell antibody were positive. Diagnosis of pernicious anemia was established and treatment with intramuscular cyanocobalamin started. The anemia responded dramatically to treatment, and the degree of hyperpigmentation decreased noticeably after nine months (Fig. 3). We conclude that the generalized cutaneous hyperpigmentation was secondary to vitamin B12 deficiency.