Mining threats in high-level biodiversity conservation policies.

Amid a global infrastructure boom, there is increasing recognition of the ecological impacts of the extraction and consumption of construction minerals, mainly processed as concrete, including significant and expanding threats to global biodiversity. We investigated how high-level national and international biodiversity conservation policies address mining threats, with a special focus on construction minerals. We conducted a review and quantified the degree to which threats from mining these minerals are addressed in biodiversity goals and targets under the 2011-2020 and post-2020 biodiversity strategies, national biodiversity strategies and action plans, and the assessments of the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services. Mining appeared rarely in national targets but more frequently in national strategies. Yet, in most countries, it was superficially addressed. Coverage of aggregates mining was greater than coverage of limestone mining. We outline 8 key components, tailored for a wide range of actors, to effectively mainstream biodiversity conservation into the extractive, infrastructure, and construction sectors. Actions include improving reporting and monitoring systems, enhancing the evidence base around mining impacts on biodiversity, and modifying the behavior of financial agents and businesses. Implementing these measures could pave the way for a more sustainable approach to construction mineral use and safeguard biodiversity.

Amenazas de la minería a las políticas de alto nivel para la conservación de la biodiversidad Resumen Enmedio del auge global del desarrollo de infraestructura, hay un mayor reconocimiento de los impactos ecológicos de la extracción y consumo de materiales para construcción, procesados predominantemente como concreto. Estos materiales representan amenazas significativas y en expansión para la biodiversidad global. Investigamos cómo son abordadas las amenazas de la minería por las políticas nacionales e internacionales de alto nivel para la conservación de la biodiversidad, con enfoque especial en los minerales para construcción. Realizamos una revisión exhaustiva y cuantificamos el grado en el cual son abordadas las amenazas de la extracción de estos minerales en los objetivos y metas para la biodiversidad bajo estrategias 2011­2020 y post 2020, las estrategias y planes de acción nacionales para la biodiversidad, y las evaluaciones de la Plataforma Intergubernamental Científico­normativa sobre Diversidad Biológica y Servicios de los Ecosistemas. La minería raramente apareció en los objetivos nacionales, pero fue más frecuente en las estrategias nacionales. Sin embargo, fue abordada superficialmente en la mayoría de los países. La cobertura de minería de agregados fue mayor que la cobertura de la minería de caliza. Describimos ocho componentes clave, adaptados para una amplia gama de actores, para incorporar eficazmente la conservación de la biodiversidad en los sectores extractivo, desarrollo de infraestructura y construcción. Las acciones incluyen la mejora de los sistemas de informes y monitoreo, el reforzamiento de la base de evidencias en torno a los impactos de la minería sobre la biodiversidad y la modificación del comportamiento de los agentes financieros y comerciales. La implementación de estas medidas podría allanar el camino para un enfoque más sostenible en el uso de minerales para la construcción y la salvaguarda de la biodiversidad.

Assessing large-scale wildlife responses to human infrastructure development.

Habitat loss and deterioration represent the main threats to wildlife species, and are closely linked to the expansion of roads and human settlements. Unfortunately, large-scale effects of these structures remain generally overlooked. Here, we analyzed the European transportation infrastructure network and found that 50% of the continent is within 1.5 km of transportation infrastructure. We present a method for assessing the impacts from infrastructure on wildlife, based on functional response curves describing density reductions in birds and mammals (e.g., road-effect zones), and apply it to Spain as a case study. The imprint of infrastructure extends over most of the country (55.5% in the case of birds and 97.9% for mammals), with moderate declines predicted for birds (22.6% of individuals) and severe declines predicted for mammals (46.6%). Despite certain limitations, we suggest the approach proposed is widely applicable to the evaluation of effects of planned infrastructure developments under multiple scenarios, and propose an internationally coordinated strategy to update and improve it in the future.

[Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase]. / Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa.

The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling.

A new ß(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of ß-thalassemia.

ß-Thalassemia intermedia (ß-TI) patients present with a wide spectrum of phenotypes depending on the presence of primary, secondary, and tertiary genetic modifiers which modulate, by different mechanisms, the degree of imbalance between α and ß chains. Here we describe a new ß(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in four members of a family, associated with secondary genetic modifiers in three of them. The different genotype present in this family was suspected after hematological analysis and thorough observation of blood smears highlighting their importance in the identification of ß-TI patients among members of the same family.

[Prevalence of clinical and subclinical hypothyroidism during pregnancy in a pregnant women population]. / Prevalencia de hipotiroidismo clínico y subclínico durante la gestación en una población de mujeres embarazadas.

OBJECTIVES: To determine the prevalence of hypothyroidism during pregnancy in a group of pregnant patients attending antenatal care at the National Institute of Perinatology and to meet cases not detected by universal screening. MATERIALS AND METHODS: Was conducted from October 2012 to March 2013, in a group of pregnant patients attending to National Institute of Perinatology, thyroid profile was performed according to the recom- mendations of the American Thyroid Association. Patients were referred to endocrinology consultation and treatment was started in case of abnormal thyroid profile. We used central tendency and non-parametric measures for description of the sample. RESULTS: The prevalence of thyroid disease in pregnancy was 33.9% (n = 37), 12.8% (n = 14) with clinical hypothyroidism and 21.1% (n = 23) subclinical hypothyroidism. The 87.1% (n = 95) of patients reported at least one symptom or risk factor history for thyroid disease, only 12.8% (n = 14), had no history or symptoms related to thyroid disease. There is no relationship between a history or symptoms reported and the presence of thyroid disease. CONCLUSIONS: The prevalence of thyroid clinical and subclinical disease is greater than that reported in the literature. There is not relationship with each risk factor for thyroid disease. Perform universal screening detects almost twice thyroid disease during pregnancy.

Long-term survival, growth, and reproduction of Acropora palmata sexual recruits outplanted onto Mexican Caribbean reefs.

Acropora palmata is a foundational yet endangered Caribbean reef-building coral species. The lack of recovery after a disease outbreak and low recruitment has led to widespread use of fragmentation to restore populations. Another option is the production of sexual recruits (settlers) via assisted reproduction to improve the genetic diversity of depleted populations; however, the viability of this approach has not been tested over the long term. In 2011 and 2012, A. palmata larvae were cultured, settled, and the sexual recruits raised in an ex-situ nursery. Survival and growth were monitored over time. In 2014, these two F1 cohorts were moved to an in-situ nursery and after one year, a subset (29 colonies) was outplanted onto Cuevones Reef in the Mexican Caribbean. Growth and survival of these colonies were monitored periodically and compared to colonies that remained in the in-situ nursery. In 2019, samples were collected and analyzed for fertility and fecundity. 53% of the colonies were gravid and fecundity was 5.61 ± 1.91 oocytes and 3.04 ± 0.26 spermaries per polyp. A further 14 colonies from these two cohorts were outplanted in 2020 onto Picudas Reef and monitored during the subsequent spawning seasons. Two years after outplanting onto Picudas Reef, all colonies were alive and spawning of three of these colonies was recorded in 2022 in synchrony with the wild population. Gametes were collected from two colonies and crossed, with 15% fertilization success. Spermatozoa from wild colonies were then added and fertilization success increased to 95%. The resultant larvae followed normal development and symbiont uptake was visible within two weeks. The F2 generation was settled, maintained in an ex-situ nursery, and monitored for survival and growth. Both F1 and F2 generations followed a Type III survival curve with high initial mortality while in the ex-situ nursery and low later-stage mortality. The growth rates of these colonies increased three-fold after outplanting when compared to their growth rates in the ex-situ and in-situ nurseries. All colonies survived while in the in-situ nursery and for an additional nine years after outplanting onto Cuevones Reef. Overall, our results show that colonies produced by assisted breeding, once outplanted, may contribute to the genetic diversity and establishment of self-sustaining sexually-reproducing populations, which is an overarching goal of coral restoration programs.

Von Willebrand disease in children: diagnosis and management of a pediatric cohort in one single center in Argentina.

Clinical and laboratory data of children with von Willebrand disease (VWD) types have been derived from retrospective studies and small case series. This article reports on the clinical and laboratory data of a large pediatric cohort in one single Argentinian center. The biological and clinical responses to desmopressin and replacement therapies are also described. Over a 15-year period, 194 of 1150 children (16.9%) were diagnosed as having type 1 VWD (80%), type 2 VWD (19%), and type 3 VWD (1%). The distribution of the different type 2 VWD subtypes was type 2A VWD, 43%; type 2B VWD, 32%; type 2M VWD, 19%; and type 2N VWD, 6%. Eighty patients with type 1 VWD and 12 patients with type 2 VWD were prospectively evaluated to desmopressin (DDAVP) response. A complete response was observed in all children with type 1 VWD, whereas 40% of the children with severe type 1 VWD and with type 2 VWD achieved a complete response. All the children who received DDAVP as prophylaxis or treatment for bleeding had good clinical evolution. Considering the restricted availability of specialized hemostasis centers, we believe our clinical and laboratory approach appropriate for the detection of patients with different types of VWD. Further studies are necessary to determine epidemiological aspects of VWD in Argentina to estimate the necessary facilities and trained personnel for the diagnosis and management of patients with VWD.

[Perinatal outcomes of patients with gestational diabetes diagnosed by three different methods]. / Resultados perinatales de pacientes con diabetes gestacional diagnosticada con tres métodos diferentes.

BACKGROUND: Gestational diabetes is one of the most common diseases during pregnancy. Despite this situation, there is still no consensus on methods for screening and diagnosis of this disease. OBJECTIVE: To assess perinatal outcomes of patients with gestational diabetes diagnosed using three different methods. PATIENTS AND METHODS: Clinical observational, longitudinal, randomized trial at the National Institute of Perinatology Isidro Espinosa de los Reyes. We included all patients admitted to the Institute for a period of three months without pregestational diabetes. Patients were screened for gestational diabetes with an oral load of 50 g of glucose. Patients with a positive screen were randomized by a computer program that randomly chose patients and made a curve according to the criteria of the American Diabetes Association 75 g or 100 g and another group with 75 g according to the criteria of the World Health Organization. Patients with gestational diabetes were followed throughout pregnancy until its reclassification in the puerperium. RESULTS: Screening was performed in 863 patients and 87 were diagnosed with gestational diabetes. Perinatal outcomes were similar in patients with gestational diabetes diagnosed using different methods, but there was a higher frequency of pregnancy-induced hypertension in patients diagnosed with the curves of the American Diabetes Association 75 and 100 g compared with the curve of the World Health Organization. CONCLUSIONS: The American Diabetes Association diagnostic method as the World Health Organization are acceptable forms to diagnose gestational diabetes.

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency. DESIGN AND METHODS: Routine hematologic investigations were performed to rule out other causes of chronic hemolytic anemia. Sanger sequencing and in-sílico analysis were carried out to identify and characterize the genetics variants. RESULTS: Six different novel missense variants were detected among the 18 studied alleles: c.661 G > C (Asp221His), c.956 G > T (Gly319Val), c.1595 G > C (Arg532Pro), c.347 G > A (Arg116Gln), c.1232 G > T (Gly411Val), c.1021G > A (Gly341Ser). Structural implications of amino-acid substitutions were correlated with the clinical phenotypes seen in the probands. CONCLUSIONS: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency in Argentina and the second from South America that would contribute to our knowledge on the distribution and frequency of PKLR variants in our population but also offer new insights into the interpretation of the effect of PKLR variants and phenotype.

Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [ß6(A3)Glu→Val;ß105(G7)Leu→Pro] in an Argentinean family.

A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martín, Buenos Aires, Argentina, is hereby described. Two mutations were identified on the same ß-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [ß6Glu→Val, GAG>GTG] and the second one on exon 3 at ß105(G7)Leu→Pro, CTC>CCC. The replacement of leucine by proline will likely impair the structure breaking helix G and causing instability of the molecule and the clinical manifestations typical of unstable Hbs. The mutation at ß105 seemed to be a de novo one in our patients, arising on a previously mutated gene, due to the fact that Hb S is the most frequent structural variant.

[A clinical guideline for diagnosis and treating of diabetes during pregnancy]. / Guía de práctica clínica. Diagnóstico y tratamiento de la diabetes en el embarazo.

BACKGROUND: Metabolic disturbance commonly occurs during pregnancy and perinatal outcome harms, with increased maternal-fetal morbidity. The prevalence of diabetes during pregnancy in Mexico is 7%. OBJECTIVE: To develop a guideline available to the staff of the first, second and third level of care, that includes recommendations based on the best available evidence. METHODS: Clinical questions were formulated and structured. Standardized sequence was established to search for practice guidelines from the clinical questions raised on diagnosis and treatment of diabetes and pregnancy. The working group selected clinical practice guidelines. We found eleven guidelines which took many of the recommendations. For recommendations not included in the reference guides the search process was conducted in PubMed and Cochrane Library. The results were expressed as levels of evidence and grade of recommendation. CONCLUSIONS: Diabetes mellitus during pregnancy increases perinatal morbidity and mortality. The recommendations in this evidence-based guide will help to make diagnosis and treatment standardized to reduce the consequences of disease.

[Hereditary xerocytosis. Presentation of two pediatric cases]. / Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos.

Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.

La xerocitosis hereditaria es un desorden poco frecuente causado por defectos en la permeabilidad eritrocitaria, que se caracteriza por anemia hemolítica de gravedad variable y sobrecarga de hierro. El diagnóstico suele ser tardío y confundirse con otras anemias hemolíticas, lo que puede llevar a indicaciones de procedimientos, como la esplenectomía, contraindicados en estos pacientes. Se reportan las características clínicas, hematológicas y moleculares de dos pacientes pediátricos no relacionados con diagnóstico de xerocitosis hereditaria. Ambos presentaban eritrocitos deshidratados con alta concentración de hemoglobina corpuscular media, frotis no patognomónico, marcadores de hemólisis y una curva de fragilidad osmótica resistente. El diagnóstico se confirmó por la secuenciación del gen PIEZO. Se resalta la importancia de reconocer la causa de la anemia hemolítica para dar un enfoque terapéutico preciso y dar adecuado consejo genético.

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study. / Caracterización fenotípica y genotipica de la deficiencia de glucosa-6-fosfato deshidrogenasa en Argentina. Estudio retrospectivo y descriptivo.

Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10.2 years (range: 0.6-56.4). No symptoms were observed in 54.2 % of patients, whereas 25 % had chronic non-spherocytic hemolytic anemia; 12.5 %, neonatal jaundice and postinfectious hemolytic anemia; and 8.3 %, acute hemolytic anemia after ingestion of fava beans. The 24 studied patients had variants that had been previously described in the bibliography. The clinical characteristics observed here were consistent with the variants found. A total of 21 women from the maternal line of affected subjects were identified as deficiency carriers using molecular biology techniques, so they received the corresponding genetic counseling.

La deficiencia de glucosa-6-fosfato deshidrogenasa es la enzimopatía eritrocitaria causada por mutaciones en el gen G6PD, cuya herencia está ligada al cromosoma X. Se analizan las características clínicas y de laboratorio de 24 individuos con deficiencia de G6PD durante 25 años. La edad mediana al momento del diagnóstico fue 10,2 años (rango: 0,6-56,4). El 54,2 % de los pacientes fueron asintomáticos, mientras que el 25 % presentó anemia hemolítica crónica no esferocítica; el 12,5 %, ictericia neonatal y anemia hemolítica posinfecciones, y el 8,3 %, anemia hemolítica aguda pos ingesta de habas. Los 24 pacientes estudiados presentaron variantes descritas previamente en la literatura. Las características clínicas observadas estuvieron acordes con las variantes encontradas. Veintiuna mujeres, pertenecientes a la rama materna de los individuos afectados, pudieron ser identificadas por biología molecular como portadoras de la deficiencia, por lo que recibieron el consejo genético correspondiente.

Measuring rewilding progress.

Rewilding is emerging as a promising restoration strategy to enhance the conservation status of biodiversity and promote self-regulating ecosystems while re-engaging people with nature. Overcoming the challenges in monitoring and reporting rewilding projects would improve its practical implementation and maximize its conservation and restoration outcomes. Here, we present a novel approach for measuring and monitoring progress in rewilding that focuses on the ecological attributes of rewilding. We devised a bi-dimensional framework for assessing the recovery of processes and their natural dynamics through (i) decreasing human forcing on ecological processes and (ii) increasing ecological integrity of ecosystems. The rewilding assessment framework incorporates the reduction of material inputs and outputs associated with human management, as well as the restoration of natural stochasticity and disturbance regimes, landscape connectivity and trophic complexity. Furthermore, we provide a list of potential activities for increasing the ecological integrity after reviewing the evidence for the effectiveness of common restoration actions. For illustration purposes, we apply the framework to three flagship restoration projects in the Netherlands, Switzerland and Argentina. This approach has the potential to broaden the scope of rewilding projects, facilitate sound decision-making and connect the science and practice of rewilding.This article is part of the theme issue 'Trophic rewilding: consequences for ecosystems under global change'.

[Erythrocyte indexes in hereditary spherocytosis]. / Indices eritrocitarios en la esferocitosis hereditaria.

Hereditary spherocytosis is a group of heterogenous disorders characterized by variability in its clinical manifestations, membrane protein defects and inheritance. We analysed the sensitivity and specificity of mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW) in the diagnostic screening of hereditary spherocytosis. Ninety-four patients were compared to equal number of healthy, age-matched children. All indexes were derived from measurements obtained by aperture impedance (Coulter Counter Model JT). In patients with hereditary spherocytosis, MCHC (35.67+/-1.33 g/dl) and RDW (20.60+/-4.5%) were significantly higher than in normal control subjects (MCHC 33.48+/-0.68 g/dl, p: 0.000; RDW 13.22+/-0.9%, p: 0.000). By using a cutoff for the MCHC of 34.5 g/dl and for the RDW of 14.5%, both indexes showed a sensitivity of 81% and a specificity of 98.9%. The combination of the two test is an excellent predictor for the diagnosis of hereditary spherocytosis.

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.

OBJECTIVE: The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an x-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation. METHOD: Probands and their relatives underwent clinical, biochemical, and molecular assessment. RESULTS: Two novel DNA variants, c.995C>T and c.1226C>A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling. CONCLUSIONS: The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed.

[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series]. / Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos.

Beta thalassemia intermedia is a quantitative haemoglobinopathy covering a broad clinical spectrum, that results from the presence of one or two HBB gene mutations associated with secondary and/or tertiary genetic modifiers. We analyze the clinical and laboratory features of 29 patients with beta thalassemia intermedia, assessed over a period of 23 years. Median age was 10.8 years (range: 0.34-60.4). Hypochromic microcytic anemia was seen in 100% of the patients, while only 17.2% had splenomegaly and occasional transfusion requirement. The molecular analysis of patients detected: 3 with two HBB affected genes; 2 with one HBB affected gene and alpha quadruplicate/triplicate genes; 23 with one HBB affected gene and alpha triplicate genes and 1 with two HBB affected genes and polymorphisms of gamma genes. The adequate identification of these patients enables us to give appropriate genetic counseling and implementation of regular clinical follow up.

Factor V Leiden and prothrombin gene G20210A mutation in children with venous thromboembolism.

To determine whether factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) are risk factors for venous thromboembolism (VTE) in Argentinean children. One hundred and thirty consecutive children with VTE were prospectively assisted at a single centre. Blood samples were available from 110 of them for detailed haematological analysis. The prevalence of both mutations was compared with a control group. The odds ratio for VTE was significantly increased in patients with FVL (OR 3.64; 95% CI: 1.14-11.6, p < 0.029) whereas odds ratio for VTE was not significantly increased in patients with PT20210A (OR 1.06; 95% CI: 0.24-4.73, p = 0.938). Combined disorders were found in 5 of the 10 children with the aforementioned mutations. In 21 children (19%) without these mutations other inherited and acquired disorders were detected. Our data show that FVL is a risk factor for VTE whereas PT20210A does not seem to be a risk factor in our paediatric population.