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AIM: Gestational diabetes (GD) is a global health concern with significant implications for maternal and neonatal outcomes. This study investigates the association between early GD (eGD) diagnosis (<24 weeks), pharmacotherapy requirements and adverse neonatal outcomes. MATERIALS AND METHODS: A cohort of 369 pregnant women underwent a 75-g oral glucose tolerance test. Maternal variables, pharmacotherapy prescriptions and neonatal outcomes were analysed employing t-tests, χ2 tests, and logistic regression. A p < .05 was considered significant. RESULTS: Early GD increased the odds of neonatal hypoglycaemia [odds ratio (OR): 18.57, p = .013] and respiratory distress syndrome (OR: 4.75, p = .034). Nutritional therapy prescription by an accredited nutritionist was the most common treatment in women diagnosed after 24 weeks, but those with eGD required more frequently specialized nutritional consulting + metformin to achieve glycaemic control (p = .027). eGD was associated with a higher requirement of nutritional therapy prescription + metformin (OR: 2.26, 95% confidence interval: 1.25-4.09, p = .007) and with maternal hyperglycaemia during the post-partum period at 2 h of the oral glucose tolerance test (OR: 1.03, 95% confidence interval: 1.02-1.13, p = .024). CONCLUSION: Timely diagnosis and personalized treatment of GD are desirable because an earlier presentation is related to a higher risk of adverse neonatal and maternal outcomes.
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Diabetes Gestacional , Diagnóstico Precoce , Teste de Tolerância a Glucose , Hipoglicemiantes , Metformina , Humanos , Feminino , Gravidez , Diabetes Gestacional/tratamento farmacológico , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/sangue , Recém-Nascido , Adulto , Hipoglicemiantes/uso terapêutico , Metformina/uso terapêutico , Hipoglicemia/induzido quimicamente , Hipoglicemia/prevenção & controle , Hipoglicemia/epidemiologia , Resultado da Gravidez/epidemiologia , Estudos de Coortes , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Glicemia/metabolismo , Glicemia/análiseRESUMO
La enfermedad por células falciformes (ECF) es una patología en aumento en el mundo y en nuestro país. Debido a los avances en el tratamiento y la mejor expectativa de vida hay más mujeres con ECF que tienen embarazos.En estos casos, los riesgos para la madre y el hijo son mayores que para la población general. Por este motivo que se requiere de un equipo multidisciplinario que trabaje en forma protocolizada, para lograr los mejores resultados. En este documento presentamos los principios generales para el manejo de la mujer con ECF durante el embarazo y puntualizamos la necesidad de más estudios para fortalecer la evidencia científica en esta población. (provisto por Infomedic International)
Sickle cell disease (SCD) is a growing pathology in the world and in our country. Due to advances in treatment and improved life expectancy, more women with SCD are having pregnancies. In these cases, the risks for mother and child are higher than for the general population. For this reason, a multidisciplinary team working in a protocolized way is required to achieve the best results. In this document we present the general principles for the management of women with SCD during pregnancy and point out the need for more studies to strengthen the scientific evidence in this population. (provided by Infomedic International)
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BACKGROUND: We report the presence of Triatoma longipennis for the first time in two localities in Hidalgo, Mexico. METHODS: This study was conducted at Tecozautla municipality, Hidalgo. Collection was performed in April 2022. RESULTS: We collected eight triatomines from Guadalupe: two fourth-instar nymphs, three fifth-instar nymphs, one female, and two males. In San Miguel Caltepantla, a female was collected inside a dwelling. One sample tested positive for Trypanosoma cruzi. CONCLUSIONS: These findings suggest the need to investigate the dynamics of this species with respect to the inhabitants of the study area.
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Doença de Chagas , Triatoma , Triatominae , Trypanosoma cruzi , Animais , Masculino , Feminino , Meio Ambiente , MéxicoRESUMO
Resumen: Introducción: La tos es una respuesta fisiológica de protección de la vía aérea, produce aerosoles que se identifican por imagen y alcanza una velocidad de hasta ocho metros por segundo. La extubación produce tos, hipertensión, taquicardia, apnea y laringoespasmo, existen métodos para minimizar su aparición. Debido a la pandemia de COVID-19 se han utilizado como profilaxis del reflejo tusígeno, la lidocaína intravenosa y el bloqueo del nervio laríngeo superior. El objetivo fue compararlos en la inhibición de la tos. Material y métodos: Se seleccionaron pacientes entre 18-60 años, cirugía electiva con anestesia general balanceada, ASA 1-3, con intubación menor a tres horas. Se aleatorizó un total de 90 pacientes, 45 en cada grupo, se eliminó un total de 10 pacientes por presentar inestabilidad hemodinámica al final de la cirugía o por no administrar dosis intravenosa de lidocaína en el tiempo establecido. Resultados: No hubo diferencia estadísticamente significativa en el número de pacientes que presentaron tos en ambos grupos (13 vs 10, p = 0.4684), de éstos se obtuvo una diferencia estadísticamente significativa en el número de decibeles a favor del grupo de bloqueo (75.6 vs 67, p < 0.001). Conclusiones: El bloqueo (selectivo) presenta menos aerolización que la lidocaína intravenosa en la extubación.
Abstract: Introduction: Coughing is a physiological response to protect the airway, it produces aerosols that are identified by imaging reaching a speed of up to 8 meters per second. Extubation produces cough, hypertension, tachycardia, apnea and laryngospasm, there are methods to minimize its occurrence. Due to the COVID-19 pandemic, intravenous lidocaine and superior laryngeal nerve block have been used as cough reflex prophylaxis. The aim was to compare them in cough inhibition. Material and methods: Patients aged 18-60 years, elective surgery with balanced general anesthesia, ASA 1-3, with intubation less than 3 hours, were selected. A total of 90 patients were randomized, 45 in each group. A total of 10 patients were eliminated because they presented hemodynamic instability at the end of surgery, and because the intravenous dose of lidocaine was not administered within the established time. Results: There was no statistically significant difference in the number of patients who presented cough in both groups (13 vs 10, p = 0.4684), of these there was a statistically significant difference in the number of decibels in favor of the block group (75.6 vs 67, p < 0.001). Conclusions: Block presents less aerolization than intravenous lidocaine in extubation.
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Triatoma pallidipennis is an exclusive and widely distributed species in Mexico and one of the three main vectors that transmit Chagas disease in the country. The state of Hidalgo is an endemic area for Chagas disease where the presence of several species of triatomines has been reported. The objective of our work was to describe the morphology, colonization process, and reproductive behavior of T. pallidipennis in Guadalupe, Tecozautla, two years after the first collection of a specimen in this region. A total of 28 specimens was collected at both domicile and peridomicile, showing a 17.8% infection rate. The main collection site was a woodshed, and despite the collection of adults in the dwelling, we did not find eggs, exuviae, or nymphs. One female monitored from collection day until death laid 566 eggs, with a hatching rate of 95%, showing an increase of oviposition when cohabited with a male. The results showed the capacity that T. pallidipennis has to infest areas (mainly human dwellings) when it settles down, which would imply a risk for the population that lives in the locality.
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Doença de Chagas , Triatoma , Triatominae , Trypanosoma cruzi , Masculino , Feminino , Humanos , Animais , México/epidemiologia , Insetos VetoresRESUMO
FAM20C (family with sequence similarity 20, member C) is a serine/threonine-specific protein kinase that is ubiquitously expressed and mainly associated with biomineralization and phosphatemia regulation. It is mostly known due to pathogenic variants causing its deficiency, which results in Raine syndrome (RNS), a sclerosing bone dysplasia with hypophosphatemia. The phenotype is recognized by the skeletal features, which are related to hypophosphorylation of different FAM20C bone-target proteins. However, FAM20C has many targets, including brain proteins and the cerebrospinal fluid phosphoproteome. Individuals with RNS can have developmental delay, intellectual disability, seizures, and structural brain defects, but little is known about FAM20C brain-target-protein dysregulation or about a potential pathogenesis associated with neurologic features. In order to identify the potential FAM20C actions on the brain, an in silico analysis was conducted. Structural and functional defects reported in RNS were described; FAM20C targets and interactors were identified, including their brain expression. Gene ontology of molecular processes, function, and components was completed for these targets, as well as for potential involved signaling pathways and diseases. The BioGRID and Human Protein Atlas databases, the Gorilla tool, and the PANTHER and DisGeNET databases were used. Results show that genes with high expression in the brain are involved in cholesterol and lipoprotein processes, plus axo-dendritic transport and the neuron part. These results could highlight some proteins involved in the neurologic pathogenesis of RNS.
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Microcefalia , Proteínas Quinases , Humanos , Proteínas Quinases/metabolismo , Microcefalia/genética , Encéfalo/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/metabolismo , Caseína Quinase I/genética , Caseína Quinase I/metabolismoRESUMO
Skeletal muscle is one of the most abundant tissues of the human body and is responsible for the generation of movement. Muscle injuries can lead to severe disability. Skeletal muscle is characterized by an important regeneration capacity, which is possible due to the interaction between the myoblasts and immune cells. Neutrophils are fundamental as inducers of muscle damage and as promoters of the initial inflammatory response which eventually allows the muscle repair. The main functions of the neutrophils are phagocytosis, respiratory burst, degranulation, and the production of neutrophil extracellular traps (NETs). An overactivation of neutrophils after muscle injuries may lead to an expansion of the initial damage and can hamper the successful muscle repair. The importance of neutrophils as inducers of muscle damage extends beyond acute muscle injury and recently, neutrophils have become more relevant as part of the immunopathogenesis of chronic muscle diseases like idiopathic inflammatory myopathies (IIM). This heterogeneous group of systemic autoimmune diseases is characterized by the presence of muscle inflammation with a variable amount of extramuscular features. In IIM, neutrophils have been found to have a role as biomarkers of disease activity, and their expansion in peripheral blood is related to certain clinical features like interstitial lung disease (ILD) and cancer. On the other hand, low density granulocytes (LDG) are a distinctive subtype of neutrophils characterized by an enhanced production of NETs. These cells along with the NETs have also been related to disease activity and certain clinical features like ILD, vasculopathy, calcinosis, dermatosis, and cutaneous ulcers. The role of NETs in the immunopathogenesis of IIM is supported by an enhanced production and deficient degradation of NETs that have been observed in patients with dermatomyositis and anti-synthetase syndrome. Finally, new interest has arisen in the study of other phenotypes of LDG with a phenotype corresponding to myeloid-derived suppressor cells, which were also found to be expanded in patients with IIM and were related to disease activity. In this review, we discuss the role of neutrophils as both orchestrators of muscle repair and inducers of muscle damage, focusing on the immunopathogenesis of IIM.
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Dermatomiosite , Doenças Pulmonares Intersticiais , Doenças Musculares , Miosite , Humanos , Neutrófilos , Músculo Esquelético/patologia , RegeneraçãoRESUMO
Implementation of international guidelines in Latin American settings requires additional considerations (ie, values and preferences, resources, accessibility, feasibility, and impact on health equity). The purpose of this guideline is to provide evidence-based recommendations about the diagnosis of venous thromboembolism (VTE) and its management in children and during pregnancy. We used the GRADE ADOLOPMENT method to adapt recommendations from 3 American Society of Hematology (ASH) VTE guidelines (diagnosis of VTE, VTE in pregnancy, and VTE in the pediatric population). ASH and 12 local hematology societies formed a guideline panel comprising medical professionals from 10 countries in Latin America. Panelists prioritized 10 questions about the diagnosis of VTE and 18 questions about its management in special populations that were relevant for the Latin American context. A knowledge synthesis team updated evidence reviews of health effects conducted for the original ASH guidelines and summarized information about factors specific to the Latin American context. In comparison with the original guideline, there were significant changes in 2 of 10 diagnostic recommendations (changes in the diagnostic algorithms) and in 9 of 18 management recommendations (4 changed direction and 5 changed strength). This guideline ADOLOPMENT project highlighted the importance of contextualizing recommendations in other settings based on differences in values, resources, feasibility, and health equity impact.
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Hematologia , Tromboembolia Venosa , Feminino , Gravidez , Criança , Humanos , Estados Unidos , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/epidemiologia , América Latina , Medicina Baseada em Evidências/métodosRESUMO
Resumen Objetivo: Comparar características poblacionales y hallazgos placentarios asociados a óbito, en mujeres con infección asintomática por coronavirus 2 del síndrome respiratorio agudo grave (SARS-CoV-2) al momento de la resolución del embarazo. Material y métodos: Estudio transversal analítico, mujeres con diagnóstico de óbito e infección asintomática por SARS-CoV-2. Se excluyeron pacientes con patología ginecológica y aquellas con más de una prueba RT-PCR. Resultados: No hay diferencia estadísticamente significativa entre las pacientes con infección asintomática por SARS-CoV-2 comparadas con pacientes sin infección para las características poblacionales como edad materna, antecedentes obstétricos, edad gestacional, escolaridad, estado civil, hábito tabáquico y enfermedades crónico-degenerativas. Tampoco hubo diferencia en los hallazgos placentarios de corioamnionitis, vasculitis, deciduitis, trombosis, aterosis aguda y necrosis fibrinoide. Conclusiones: No hay diferencia estadísticamente significativa en las características poblacionales y placentarias en embarazadas con diagnóstico de óbito, con y sin infección asintomática por SARS-CoV-2. Tenemos datos insuficientes para afirmar alguna característica asociada a óbito en pacientes con infección por SARS-CoV-2 asintomática.
Abstract Objective: To compare population characteristics and placental findings associated with stillbirth, in women with asymptomatic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection at the time of delivery. Materials and methods: Analytical cross-sectional study women with a diagnosis of stillbirth and with asymptomatic SARS-CoV-2 infection. Patients with gynecological pathology and those with more than one RT-PCR test were excluded. Results: There is no statistically significant difference between patients with asymptomatic SARS-CoV-2 infection compared to patients without infection for population characteristics such as maternal age, obstetric history, gestational age, education, marital status, smoking habit, chronic-degenerative diseases. There was no difference in placental findings of chorioamnionitis, vasculitis, deciduitis, thrombosis, acute atherosis, and fibrinoid necrosis. Conclusions: There is no statistically significant difference in the population and placental characteristics, in pregnant women diagnosed with stillbirth with and without confirmed asymptomatic SARS-CoV-2 infection. For the moment, we have insufficient data to affirm any population characteristic associated with stillbirth in patients with asymptomatic SARS-CoV-2 infection.
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No disponible.
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COVID-19 , Pandemias , Humanos , Universidades , Composição Corporal , Estudantes , LipídeosRESUMO
ABSTRACT Background: We report the presence of Triatoma longipennis for the first time in two localities in Hidalgo, Mexico. Methods: This study was conducted at Tecozautla municipality, Hidalgo. Collection was performed in April 2022. Results: We collected eight triatomines from Guadalupe: two fourth-instar nymphs, three fifth-instar nymphs, one female, and two males. In San Miguel Caltepantla, a female was collected inside a dwelling. One sample tested positive for Trypanosoma cruzi. Conclusions: These findings suggest the need to investigate the dynamics of this species with respect to the inhabitants of the study area.
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BACKGROUND: Previous studies have identified a set of variables associated with depression during the COVID-19 pandemic. However, the existing antecedents in Mexico, in addition to being limited to the beginning of the health emergency, made use of small and unrepresentative samples. Therefore, the aim of the present study was to identify the prevalence and factors associated with clinically significant depressive symptomatology (CSDS) in a representative Mexican sample of 2021. METHODS: A secondary cross-sectional analysis of the Encuesta Nacional de Bienestar Autorreportado (ENBIARE) was conducted. For the present study, the effective sample was 30,901. Univariate and bivariate anaylses were followed by a multiple Poisson regression, which served to obtain adjusted prevalence ratios of each variable under study. RESULTS: The prevalence of CSDS in the year 2021 was 15.3 %. In the multivariable analysis, the factors associated with CSDS were the number of recent stressful events, having a major functional limitation, not having social support from family or friends, being female, having suffered recent discrimination, alcohol or other drug use (by oneself or someone at home), not being married or cohabiting, living in a rural area, having had a diagnosis of COVID-19, having lost a job, living with a chronic patient, not doing physical exercise, and having a low educational level. LIMITATIONS: The main limitations were the cross-sectional nature of the data, the use of self-report measures, as well as the fact that this was a secondary analysis that did not allow consideration of additional variables. CONCLUSIONS: A set of personal and contextual variables were identified that can help focus prevention and intervention efforts on the phenomenon of depression.
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COVID-19 , COVID-19/epidemiologia , Estudos Transversais , Depressão/epidemiologia , Feminino , Humanos , Masculino , México/epidemiologia , Pandemias/prevenção & controle , PrevalênciaRESUMO
Triatoma mexicana is an important vector of Trypanosoma cruzi-the etiological agent of Chagas disease. This triatomine species occurs in central Mexico, but little is known about its genetic variability. Using Cyt-b gene as a genetic marker, in this study, we determined the population genetic structure of T. mexicana collected from the States of Hidalgo, Guanajuato, and Queretaro where populations are largely peridomiciliary. A Bayesian approach was performed for the design of phylogenies, median-joining networks, and clustering among populations of T. mexicana. Our results show that the Hidalgo population was the most distinct, with the highest genetic and haplotypic variation (Hd = 0.963, π = 0.06129, and ɵ = 0.05469). Moderate gene flow (Nm) was determined among populations of Hidalgo and Queretaro. Populations from the three states showed differentiation (FST) values ranging from 0.22 to 0.3, suggesting an important genetic differentiation. The phylogenetic analysis showed the presence of five well-defined groups, as well as the haplotype network, where 24 haplotypes were observed forming five haplogroups with high mutational steps among them: 68 (Hgo-W2), 26 (Qto), 59 (Hgo-M), 44 (Hgo-W1), and 46 (Gto). Genetic isolation was apparently inferred in the Guanajuato population; however, the Mantel test did not show correlation between genetic (FST) and geographic (km) distances (p = 0.05). The STRUCTURE analyses showed seven genetic clusters and it was observed that a single cluster predominates in each sampled location. However, genetic admixture was detected in four localities. Our results show evidence that there are multiple species within the collected sampling area.
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Doença de Chagas , Triatoma , Triatominae , Trypanosoma cruzi , Animais , Teorema de Bayes , Variação Genética , Insetos Vetores , México/epidemiologia , Filogenia , Triatoma/genética , Trypanosoma cruzi/genéticaRESUMO
BACKGROUND: Venous thromboembolism (VTE) is a common disease in Latin American settings. Implementation of international guidelines in Latin American settings requires additional considerations. OBJECTIVE: To provide evidence-based guidelines about VTE prevention for Latin American patients, clinicians, and decision makers. METHODS: We used the GRADE ADOLOPMENT method to adapt recommendations from 2 American Society of Hematology (ASH) VTE guidelines (Prevention of VTE in Surgical Patients and Prophylaxis for Medical Patients). ASH and 12 local hematology societies formed a guideline panel composed of medical professionals from 10 countries in Latin America. Panelists prioritized 20 questions relevant to the Latin American context. A knowledge synthesis team updated evidence reviews of health effects conducted for the original ASH guidelines and summarized information about factors specific to the Latin American context, that is, values and preferences, resources, accessibility, feasibility, and impact on health equity. RESULTS: The panel agreed on 21 recommendations. In comparison with the original guideline, 6 recommendations changed direction and 4 recommendations changed strength. CONCLUSIONS: This guideline ADOLOPMENT project highlighted the importance of contextualization of recommendations in other settings, based on differences in values, resources, feasibility, and health equity impact.
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Hematologia , Tromboembolia Venosa , Humanos , América Latina , Estados Unidos , Tromboembolia Venosa/tratamento farmacológico , Tromboembolia Venosa/etiologia , Tromboembolia Venosa/prevenção & controleRESUMO
INTRODUCTION: An exponential increase in thyroid cancer has been reported in Mexico with 12,122 new cases in 2018 it represents the most common endocrinological cancer described by the World Health Organization. Attributing it local and distant metastatic lesions, being unusual the orbital condition. CLINICAL CASE: A 56-year-old woman diagnosed with chronic myeloid leukemia 19 years ago, presented with left eye proptosis and tearing, headaches, worsening left facial neuralgia. CONCLUSIONS: In these cases, the surgical treatment is essential to improve patient's symptoms and quality of life.
INTRODUCCIÓN: En México existe un aumento exponencial del cáncer de tiroides, con 12,122 nuevos casos en 2018, representando el cáncer endocrinológico más frecuente descrito por la Organización Mundial de la Salud. Se le atribuyen lesiones metastásicas locales y a distancia, siendo una presentación inusual la afección orbitaria. CASO CLÍNICO: Mujer de 56 años diagnosticada de leucemia mieloide crónica hace 19 años, que acude por cefalea, proptosis e hiperemia conjuntival con limitación a la abducción, y dolor facial izquierdo. CONCLUSIONES: En estos casos, el tratamiento quirúrgico es indispensable para mejorar la sintomatología y la calidad de vida del paciente.
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Neoplasias Orbitárias , Neoplasias da Glândula Tireoide , Feminino , Humanos , México , Pessoa de Meia-Idade , Qualidade de Vida , Neoplasias da Glândula Tireoide/cirurgiaRESUMO
BACKGROUND: From 2017 to 2020, the American Society of Hematology (ASH) collaborated with 12 hematology societies in Latin America to adapt the ASH guidelines on venous thromboembolism (VTE). OBJECTIVE: To describe the methods used to adapt the ASH guidelines on venous thromboembolism. METHODS: Each society nominated 1 individual to serve on the guideline panel. The work of the panel was facilitated by the 2 methodologists. The methods team selected 4 of the original VTE guidelines for a first round. To select the most relevant questions, a 2-step prioritization process was conducted through an on-line survey and then through in-person discussion. During an in-person meeting in Rio de Janeiro, Brazil, from 23 April through 26 April 2018, the panel developed recommendations using the ADOLOPMENT approach. Evidence about health effects from the original guidelines was reused, but important data about resource use, accessibility, feasibility, and impact in health equity were added. RESULTS: In the guideline accompanying this paper, Latin American panelists selected 17 questions from an original pool of 49. Of the 17 questions addressed, substantial changes were introduced for 5 recommendations, and remarks were added or modified for 12 recommendations. CONCLUSIONS: By using the evidence from an international guideline, a significant amount of work and time were saved; by adding regional evidence, the final recommendations were tailored to the Latin American context. This experience offers an alternative to develop guidelines relevant to local contexts through a global collaboration.
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Hematologia , Tromboembolia Venosa , Brasil , Medicina Baseada em Evidências , Humanos , América Latina/epidemiologia , Tromboembolia Venosa/tratamento farmacológicoRESUMO
BACKGROUND: Venous thromboembolism (VTE) is a common disease in Latin American settings. Implementing international guidelinn Aes in Latimerican settings requires additional considerations. OBJECTIVE: The purpose of our study was to provide evidence-based guidelines about managing VTE for Latin American patients, clinicians, and decision makers. METHODS: We used the Grading of Recommendations, Assessment, Development and Evaluation (GRADE)-ADOLOPMENT method to adapt recommendations from 2 American Society of Hematology (ASH) VTE guidelines (Treatment of VTE and Anticoagulation Therapy). ASH and local hematology societies formed a guideline panel comprised of medical professionals from 10 countries in Latin America. Panelists prioritized 18 questions relevant for the Latin American context. A knowledge synthesis team updated evidence reviews of health effects conducted for the original ASH guidelines and summarized information about factors specific to the Latin American context (ie, values and preferences, resources, accessibility, feasibility, and impact on health equity). RESULTS: The panel agreed on 17 recommendations. Compared with the original guideline, 4 recommendations changed direction and 1 changed strength. CONCLUSIONS: This guideline adolopment project highlighted the importance of contextualization of recommendations suggested by the changes to the original recommendations. The panel also identified 2 implementation priorities for the region: expanding the availability of home treatment and increasing the availability of direct oral anticoagulants (DOACs). The guideline panel made a conditional recommendation in favor of home treatment for individuals with deep venous thrombosis and a conditional recommendation for either home or hospital treatment for individuals with pulmonary embolism. In addition, a conditional recommendation was made in favor of DOACs over vitamin K antagonists for several populations.
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Embolia Pulmonar , Tromboembolia Venosa , Anticoagulantes/uso terapêutico , Medicina Baseada em Evidências , Humanos , América Latina/epidemiologia , Embolia Pulmonar/tratamento farmacológico , Tromboembolia Venosa/tratamento farmacológicoRESUMO
FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia characterized by generalized atherosclerosis with periosteal bone formation, characteristic facial dysmorphisms and intracerebral calcifications. The aim of this review is to give an overview of targets and variants of FAM20C as well as RS aspects. We performed a wide phenotypic review focusing on clinical aspects and differences between all lethal (LRS) and non-lethal (NLRS) reported cases, besides the FAM20C pathogenic variant description for each. As new targets of FAM20C kinase have been identified, we reviewed FAM20C targets and their functions in bone and other tissues, with emphasis on novel targets not previously considered. We found the classic lethal and milder non-lethal phenotypes. The milder phenotype is defined by a large spectrum ranging from osteonecrosis to osteosclerosis with additional congenital defects or intellectual disability in some cases. We discuss our current understanding of FAM20C deficiency, its mechanism in RS through classic FAM20C targets in bone tissue and its potential biological relevance through novel targets in non-bone tissues.