Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients.

Sourcing UK COVID-19 News: An Analysis of Sourcing Patterns of 15 UK News Outlets Reporting on COVID-19 Across Facebook, Twitter, and Instagram.

How a health emergency is defined and presented through the news media matters for public understanding and health outcomes. Previous studies have endeavored to identify the patterns of news sourcing in crisis coverage, specifically the interplay between political sources and health expert sources, but yielded inconclusive results. This study analyses the types and roles of actors (those entities mentioned in a story) and sources cited in news coverage of COVID-19 by surveying social media posts published by 15 UK news outlets coverage across Facebook, Twitter, and Instagram between 1 January to December 31 2020.

Novel and effective hemostats based on graphene oxide-polymer aerogels: In vitro and in vivo evaluation.

In this study, graphene oxide (GO)-based aerogels cross-linked with chitosan (CS), gelatin (GEL), and polyvinyl alcohol (PVA) were characterized and their hemostatic efficiencies both in vitro and in vivo were investigated and compared to commercial materials (ChitoGauze®XR and Spongostan™). All aerogels exhibited highly porous structures and a negative surface charge density favorable to their interaction with blood cells. The in vitro studies showed that all aerogels coagulated >60 % of the blood contained in their structures after 240 s of the whole-blood clotting assay, the GO-CS aerogel being the one with the highest blood clotting.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome.

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

Background: In 2000, Chile's Ministry of Health mandated fortification of wheat flour with folic acid at a concentration of 2.2 mg/kg to prevent neural tube defects (NTDs), resulting in a 50% reduction in NTD prevalence. Concerns about possible collateral effects of high folic acid intake led, in 2009, to decrease the folic acid fortification to 1.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Objective: The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of microcephaly from 2010 to 2017 (before, during and after the Zika virus epidemic).

Design: Nine ReLAMC congenital anomaly registries provided case-level data or aggregate data for any live births, still births or terminations of pregnancy with microcephaly.

Preferred sources of help for mental health problems among Chilean adolescents: a descriptive study.

Background: A timely search for professional help regarding mental health issues in adolescents is critical in preventing severe disorders. However, adolescents generally tend not to seek help. This investigation aimed to study Chilean adolescents' willingness to seek help in mental health issues by identifying their preferred help-seeking sources.

Skeletal dysplasias in Latin America.

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.

Varus mechanism is associated with high incidence of popliteal artery lesions in multiligament knee injuries.

Purpose: This study aims to identify multiple ligament knee injury patterns that possess a high-risk of vascular lesion.

Methods: We retrospectively compared torn ligament patterns and the presence of vascular lesions confirmed by magnetic resonance imaging and computed tomography angiography from 122 consecutive patients with diagnoses of multiple ligament knee injury made at the emergency department between January 2012 and December 2017. Patients were not eligible if they had an ipsilateral lower extremity lesion (dislocations or fractures at another level), initial evaluation at another hospital, or follow-up for less than 12 months.

Phenotypic spectrum of neonatal CHARGE syndrome.

Introduction: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene.

Objective: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses.

Clinical Case: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection.

Identification of c.1531C>T Pathogenic Variant in the Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Germline pathogenic variants in the gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize mutations associated with HDGC from Chile, a country with one of the highest incidence and mortality rates in the world for gastric cancer (GC). Here, we prospectively include probands with family history/early onset of diffuse-type of GC.

Recognition of mental health disorders in adolescent students in Chile: a descriptive study.

Objective: To describe high school students’ ability to recognize six mental health disorders.

Method: This is a descriptive, cross-sectional study. Participants were teenagers between 14-19 years of age, high-school students from the town of Talca, in the Maule Region (Chile).

Ocean acidification exacerbates the effects of paralytic shellfish toxins on the fitness of the edible mussel Mytilus chilensis.

High latitudes are considered particularly vulnerable to ocean acidification, since they are naturally low in carbonate ions. The edible mussel Mytilus chilensis is a common calcifier inhabiting marine ecosystems of the southern Chile, where culturing of this species is concentrated and where algal blooms produced by the toxic dinoflagellate A. catenella are becoming more frequent.

[Pseudohypoparathyroidism: report of two cases of late presentation].

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO).

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur.

Pre-ingestive selection capacity and endoscopic analysis in the sympatric bivalves Mulinia edulis and Mytilus chilensis exposed to diets containing toxic and non-toxic dinoflagellates.

This study investigates the effects of toxic and non-toxic dinoflatellates on two sympatric bivalves, the clam Mulinia edulis and the mussel Mytilus chilensis. Groups of bivalves were fed one of three diets: (i) the toxic paralytic shellfish producing (PSP) Alexandrium catenella + Isochrysis galbana; (ii) the non-toxic Alexandrium affine + Isochrysis galbana and (iii) the control diet of Isochrysis galbana. Several physiological traits were measured, such as, clearance rate, pre-ingestive selection efficiency and particle transport velocity in the gill.

Development of Graphene Oxide Composite Aerogel with Proanthocyanidins with Hemostatic Properties As a Delivery System.

The graphene aerogels' potential for use as both a hemostatic agent and dermal delivery system has scarcely been investigated. In this study, we used a sol-gel process for generating dry and stable composite aerogels based on graphene oxide (GO) and poly(vinyl alcohol) (PVA). Furthermore, we incorporated natural extract of País grape seed (SD) and skin (SK), rich in proanthocyanidins (PAs or condensed tannins).

Interactive associations of parental support, demands, and psychological control, over adolescents' beliefs about the legitimacy of parental authority.

The present study examined the relationship between parental support, demand, psychological control and adolescents' beliefs about the legitimacy of parental authority for personal and multifaceted issues in a sample of 1342 Chilean adolescents (M = 16.38, SD = 1.24, age range 14-20).

[Congenital anomalies of poor prognosis. Genetics Consensus Committee].

Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law.

Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it.

Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)".

[Prevalence of genetic diseases in admissions to a tertiary care hospital pediatric service].

Background: With the epidemiological changes, the role of genetic factors as a cause of morbidity and mortality is increasing, changing disease patterns of patients admitted to pediatric hospitals.

Aim: To describe the prevalence of genetic diseases (GD) in patients admitted to a tertiary-care hospital Pediatric Service.

Material And Methods: The clinical records of consecutive admissions to a Pediatric Service of a clinical hospital in 2011 were reviewed.

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.

Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature.

Aim: To describe the molecular and clinical findings observed in 23 of 45 non-consanguineous Chilean patients with different phenotypes related to SHOX deficiency.

Methods: Multiplex ligation-dependent probe amplification was used to detect the deletions; the SHOX coding region and deletion-flanking areas were sequenced to identify point mutations and single-nucleotide polymorphisms (SNPs).

[Intragastric balloon: a review concerning alternative balloons compared to the classical ones (Bioenterics)].

Since de Tarpon Springs Consensus Conference in 1987, the Bioenterics Intragastric Balloon represents the standard model for obesity treatment with this technique. Nevertheless, over the last 30 years, especially for the last ten years, novel concept of balloons has appeared, as well as new alternative models, which are reviewed in this paper.