Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.

Background: Inferior vena cava agenesis (IVCA) is a rare anomaly predisposing affected people to lower-limb venous thrombosis with low frequency of pulmonary embolism. Antenatal thrombosis and inherited thrombophilia have been suggested as causes of IVCA. However, there is little evidence on the clinical course and management of this condition.

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified 2 new SERPINC1 variants, p.Glu227Lys and p.

[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].

Background: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9).

Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD.

Material And Methods: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families.

Impact of a Disaster Drill on Waiting Times in a Pediatric Emergency Department.

Objective: Emergency departments should improve their preparedness for mass casualty incidents (MCIs) through periodic drills. These exercises are conducted while maintaining regular care. The aim of this study was to determine the impact of a disaster drill in a pediatric emergency department (PED) on real patients' waiting times.

Management of acquired hemophilia A: results from the Spanish registry.

The Spanish Acquired Hemophilia A (AHA) Registry is intended to update the status of AHA in Spain. One hundred and fifty-four patients were included and retrospectively followed for a median of 12 months. Patients were predominantly male (56.

The Chilean socio-ethno-genomic cline.

Studies of the current Chilean population performed using classical genetic markers have established that the Chilean population originated primarily from the admixture of European people, particularly Spaniards, and Amerindians. A socioeconomic-ethno-genetic cline was established soon after the conquest. Spaniards born in Spain or Chile occupied the highest Socioeconomic Strata, while Amerindians belonged to the lowest.

Incidence and clinical profile of venous thromboembolism in hospitalized COVID-19 patients from Madrid region.

Background: COVID-19 related in-hospital venous thromboembolism (VTE) incidence is high but data reported vary significantly. Some studies show that up to half of the events are diagnosed early after admission.

Objectives: To study symptomatic VTE incidence in acute COVID-19 hospitalized patients and to describe timing of VTE diagnosis.

Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population.

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease.

Objective: In this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of LDL-R and ligand interactions with apolipoproteins.

Home visits as an interprofessional learning activity for students in primary healthcare.

Aim: To evaluate person-centred home visits as an interprofessional learning (IPL) activity for undergraduate students during clinical placements in primary healthcare.

Background: Interprofessional collaboration is known to improve patient safety, increase job satisfaction, and reduce stress among healthcare professionals. Students should already during their basic training experience interprofessional collaboration.

Low impact of SARS-CoV-2 infection among paediatric acute respiratory disease hospitalizations.

Objective: This study describes the characteristics of children requiring admission with an acute lower-respiratory disease (ALRD) during the SARS-CoV-2 pandemics.

Methods: Epidemiological, clinical, and microbiological data from patients with ALRD (pneumonia, bronchiolitis, bronchospasm) admitted to a reference paediatric hospital in Spain during the pandemic peak (week 11-20/2020) were prospectively analysed.

Results: 110 patients were included.

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.

Objective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components.

Background: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African.

Defects of splicing in antithrombin deficiency.

Background: There is increasing evidence supporting the relevance of aberrant splicing in multiple disorders. In antithrombin deficiency only 22 intronic mutations affecting splicing sites (7% of mutations) are considered as splicing mutations.

Methods: was analyzed by Sanger sequencing and MLPA in 141 unrelated cases with antithrombin deficiency.

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

Background: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.

Objective: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.

Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

The key haemostatic role of antithrombin and the risk of thrombosis associated with its deficiency support that the low incidence of antithrombin deficiency among patients with thrombosis might be explained by underestimation of this disorder. It was our aim to identify mutations in SERPINC1 causing transient antithrombin deficiency. SERPINC1 was sequenced in 214 cases with a positive test for antithrombin deficiency, including 67 with no deficiency in the sample delivered to our laboratory.

[Effects of the Bright Bodies Program in Chilean obese children].

Background: Yale University's Bright Bodies Program consists on a lifestyle intervention, in areas such as nutrition and exercise, while focusing on behavior modification and family support.

Aim: To evaluate the impact of the Program in Chilean children and adolescents with obesity who participated in the Program during 8 months.

Material And Methods: The weight management Program was carried out during 8 months and consisted in weekly sessions directed by dietitians or psychologists and exercise sessions twice per week in charge of physical education teachers.

[Effects of neonatal nutritional status on the risk for metabolic syndrome in Chilean obese children].

Background: Neonatal malnutrition defined by birth weight (BW) is a risk factor for obesity and cardio-metabolic diseases in adults. Neonatal ponderal index (NPI) may have better diagnostic value than BW to establish nutritional status.

Aim: To determine the effect of neonatal nutritional status, established by the three NPI curves available in Chile, on the risk of Metabolic Syndrome (MS) in obese school children.

Unsaturated fatty acids and insulin resistance in childhood obesity.

Objective: Obesity is characterized by increased levels of plasma free fatty acids (FFAs) that interfere with insulin signaling. The aim of our study was to assess the FFA profile in obese children and adolescents and to determine their relation with different degrees of insulin resistance.

Methods: A transversal study was conducted of 51 children and adolescents (mean age, 11.

Metformin for the treatment of hyperandrogenism in adolescents with type 1 diabetes mellitus.

Background: A high prevalence of hyperandrogenism has been reported in women with type 1 diabetes (T1D). Metformin has been used as a therapeutic agent in patients with polycystic ovarian syndrome and in T1D patients without hyperandrogenism. This study sought to determine the effect of metformin on hyperandrogenism and ovarian function in adolescents with T1D.

[Association between adiponectin gene polymorphisms and obesity in school age children from Hualpén, Chile].

Background: Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities.

Aim: To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population.

Material And Methods: A case-control study was performed in 241 obese and 126 normal weight children (7-11 years old) from the urban community of Hualpén, Biobío region.

Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls.

Aim: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA).

Subjects And Methods: Girls with breast in Tanner stage II and normal body mass index were followed for 3 years with a complete physical exam, bone age, pelvic ultrasound, and measurement of gonadal hormones using a leuprolide test.

Results: Forty-one girls (AGA 25/LBW 16) were followed up for 3 years.

FTO gene is related to obesity in Chilean Amerindian children and impairs HOMA-IR in prepubertal girls.

Objective: The objective of this study was to investigate the allelic frequency of the fat mass and obesity-associated (FTO) gene (rs9939609) and its influences on obesity and metabolic risk biomarkers in a cohort of normal weight and obese Chilean children determining its ethnicity.

Methods: A total of 136 normal weight children and 238 obese children (between 6 and 11 yr old) from an urban setting were recruited for this case-control study. The children were classified as normal weight [body mass index (BMI) ≥ 5th and < 85th percentiles] or obese (BMI >95th percentile), according to the international age- and gender-specific percentiles defined by the Center for Disease Control and Prevention.