100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network within the Austrian metabolic group, our registry research aimed to update the data of the "Registry for Inherited Metabolic Disorders" started between 1985 and 1995 with retrospectively retrieved data on patients with IMDs according to the Society for the Study of Inborn Errors of Metabolism International Classification of Diseases 11 (SSIEM ICD11) catalogue. Included in this retrospective register were 2631 patients with an IMD according to the SSIEM ICD11 Classification, who were treated in Austria. Thus, a prevalence of 1.8/10 000 for 2020 and a median minimal birth prevalence of 16.9/100 000 (range 0.7/100 000-113/100 000) were calculated for the period 1921 to February 2021. We detected a male predominance (m:f = 1.2:1) and a mean age of currently alive patients of 17.6 years (range 5.16 months-100 years). Most common diagnoses were phenylketonuria (17.7%), classical galactosaemia (6.6%), and biotinidase deficiency (4.2%). The most common diagnosis categories were disorders of amino acid and peptide metabolism (819/2631; 31.1%), disorders of energy metabolism (396/2631; 15.1%), and lysosomal disorders (395/2631; 15.0%). In addition to its epidemiological relevance, the "Registry for Inherited Metabolic Disorders" is an important tool for enhancing an exchange between care providers. Moreover, by pooling expertise it prospectively improves patient treatment, similar to pediatric oncology protocols. A substantial requirement for ful filling this goal is to regularly update the registry and provide nationwide coverage with inclusion of all medical specialties

Fracionamento densimétrico com politungstato de sódio no estudo da proteção física da matéria orgânica em solos Densimetric fractionation with sodium polytungstate to investigate physical protection of soil organic matter

O fracionamento físico densimétrico é uma técnica que permite estudar a proteção física da matéria orgânica (MO) no solo, sendo utilizadas, de forma indistinta, soluções densas de iodeto de sódio (NaI) e de politungstato de sódio (PTS). O objetivo deste estudo foi avaliar (a) o efeito de soluções de NaI (1,8 g cm-3) e de PTS (1,8, 2,0 e 2,2 g cm-3) no rendimento de carbono (C) nas frações leve-livre (FLL) e leve-oclusa (FLO) da MO na camada de 0-5 cm de um Argissolo Vermelho [PVd, Eldorado do Sul (RS)] e de um Latossolo Vermelho [LVdf, Dourados (MS)] e (b) a magnitude da proteção física da MO em agregados no acúmulo de C orgânico nesses solos submetidos, respectivamente, ao sistema plantio direto por 18 anos (PD) e pastagem (Brachiaria decumbens) por nove anos, em comparação à sua condição em preparo convencional (PC). Em ambos os locais, blocos indeformados de solo foram coletados em experimentos de longa duração; os agregados foram separados nos planos de fraqueza e passados em peneira de 9,51 mm; esse material foi submetido ao fracionamento densimétrico da MO do solo. O uso da solução de PTS 1,8 g cm-3 aumentou de 176 a 727 % o rendimento de C na FLO em comparação à solução de NaI na mesma densidade, mas não teve efeito no rendimento de C da FLL da MO do solo. O aumento da densidade da solução de PTS de 1,8 g cm-3 para 2,0 g cm-3 incrementou de 30 a 99 % o rendimento de C da FLO; contudo, o aumento da densidade para 2,2 g cm-3 resultou em aumento pouco expressivo (< 18 %) no rendimento de C na FLO nos diferentes solos e sistemas de manejo. O uso de NaI no fracionamento densimétrico leva à conclusão errônea de que a proteção física não é um mecanismo importante de estabilização da MO no solo. Por outro lado, a utilização da solução de PTS 2,0 g cm-3, a qual é recomendada para o fracionamento densimétrico devido à sua alta eficiência na recuperação do C da FLO, permitiu constatar que a proteção física da MO em agregados de solo foi responsável por 54 e 23 % do acúmulo de C orgânico no PVd e LVdf, respectivamente, sob plantio direto e pastagem.<br>Through the densimetric fractionation it is possible to study the physical protection of soil organic matter (SOM). High density solutions of sodium iodide (NaI) or sodium polytungstate (SPT) have been indistinctively used for this purpose. This study aimed to assess: (a) the capacity of these two solutions at a density of 1.8 g cm-3 (NaI-1.8 and SPT-1.8) and of SPT at densities of 2.0 (SPT-2.0) and 2.2 g cm-3 (SPT-2.2) to increase C recovery in the free light fraction (FLF) and occluded light fraction (OLF) of the organic matter contained in soil aggregates of the 0-5 cm layer of an Acrisol [PVd, Eldorado do Sul (RS)] and of a Ferralsol [LVdf, Dourados (MS)]; and (b) the magnitude of the physical protection in promoting soil organic matter accumulation in these soils under no-tillage for 18 years and pasture (Brachiaria decumbens) for 9 years, respectively, both in comparison to conventional-tilled soil. Soil blocks were collected and < 9.51 mm soil aggregates were separated and submitted to density fractionation of soil OM. The SPT-1.8 increased OLF-C by 176 to 726 % in comparison to NaI-1.8, but no effect was observed on FLF-C recovery. By using SPT-2.0, the OLF-C recovery increased by 30 to 90 % in comparison with SPT-1.8, but a lower increment (< 18 %) was observed when SPT-2.0 was substituted by SPT-2.2. Density fractionation of OM with NaI solution (low OLF and high FLF) may lead to the erroneous conclusion that physical protection is not an important stabilizing mechanism of SOM in soils under no-tillage or pasture. On the other hand, when using SPT-2.0, which was most efficient in recovering OLF-C, the physical protection within aggregates was responsible for 54 % (PVd) and 23 % (LVdf) of the total SOM accumulation in soils under no-tillage and pasture, respectively