Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Cuidados Paliativos. Un modelo de hospitalización domiciliaria en Bogotá, Colombia

5 páginasObjetivo: determinar las características demográficas, morbilidad, sintomatología y tratamientos utilizados en pacientes de Cuidados Paliativos ingresados en el Programa de Hospitalización Domiciliaria de Colsanitas. Metodología: estudio descriptivo, corte transversal. Población de estudio: pacientes de Cuidados Paliativos atendidos en el Programa de Hospitalización Domiciliaria de Clínica Colsanitas, en enero-junio de 2005, que cumplieron los criterios de inclusión (pacientes con diagnóstico oncológico en estado terminal, considerándose un estado terminal aquel con un pronóstico de vida menor a tres meses) y exclusión (pacientes que estuvieron recibiendo medicamentos especiales como ácido zoledrónico, ciclofosfamida, hierro, que se visitaban únicamente para la aplicación del medicamento y pacientes a quienes se les realizó exclusivamente toma de laboratorios o mantenimiento de catéteres implantables). Se aplicó un instrumento diseñado previamente por los autores, donde se recogió la información de las historias clínicas. Las variables numéricas continuas se presentan por medidas de tendencia central y dispersión las variables categóricas por proporciones e intervalos de confianza del 95%. Resultados: se analizaron 95 historias clínicas, la edad promedio fue de 64 años, la localización de los tumores primarios fue: gástrico (11,5%), colon (10,5%), seno (9,5%), sistema nervioso central (8,4%) y páncreas (8,4%). Los medicamentos para el manejo del dolor son los más utilizados, otros medicamentos formulados fueron antieméticos, inductores de sueño, anticonvulsivantes y antagonistas de receptores NMDA. Conclusiones: la atención domiciliaria surge como una alternativa a la provisión de cuidados paliativos. Se deben hacer estudios de seguimiento para determinar la efectividad, complicaciones y costos de estos programas en comparación con los cuidados paliativos intrahospitalario

Palliative care in patients with chronic nononcological diseases

5 páginasThe prevalence of chronic diseases has been increasing globally and in the region of the Americas. The World Health Organization states that the population older than 60 years has doubled in the last 30 years, and the cost of these diseases to health systems is of immense significance. Neurologic diseases, such as dementia and cerebrovascular disease, as well as chronic obstructive pulmonary disease, significantly deteriorate the quality of life of patients owing to an increase in symptoms that are often not treated. The management of chronic symptoms, which is the basis of palliative care, becomes a major approach to the patient, his or her family, and the system. This article seeks to show the importance of joint work between physicians and palliative care specialists to define the most appropriate management for these patients and optimize quality of life

Educación en cuidado paliativo para pregrado de medicina: resultados de una encuesta acerca de la percepción de los conocimientos adquiridos

6 páginasLa educación médica en pregrado a nivel mundial y enColombia reporta deficiencias en cuidado paliativo. La Universidad de la Sabana decidió implementar un programa opcional en cuidado paliativo, con un modelo de aprendizaje basado en competencias. Objetivos: identificar la percepción de conocimientos adquiridos en los estudiantes que completaron el curso de cuidado paliativo. Material y métodos: estudio de corte transversal para medir a través de una entrevista estructurada aplicada a estudiantes que cursaron la asignatura opcional de cuidado paliativo, la percepción en el conocimiento adquirido y conocer sus sugerencias con el propósito de mejorar la calidad del programa

Validación del Puntaje Nacional de Alerta Temprana (NEWS)-2 para adultos en el servicio de urgencias de una clínica de tercer nivel en Colombia

12 páginasThe National Early Warning Score (NEWS)-2 is an early warning scale that is used in emergency departments to identify patients at risk of clinical deterioration and to help establish rapid and timely management. The objective of this study was to determine the validity and prediction of mortality using the NEWS2 scale for adults in the emergency department of a tertiary clinic in Colombia. A prospective observational study was conducted between August 2018 and June 2019 at the Universidad de La Sabana Clinic. The nursing staff in the triage classified the patients admitted to the emergency room according to Emergency Severity Index and NEWS2. Demographic data, physiological variables, admission diagnosis, mortality outcome, and comorbidities were extracted. Three thousand nine hundred eighty-six patients were included in the study. Ninety-two (2%) patients required intensive care unit management, with a mean NEWS2 score of 7. A total of 158 patients died in hospital, of which 63 were women (40%). Of these 65 patients required intensive care unit management. The receiver operating characteristic curve for NEWS2 had an area of 0.90 (CI 95%: 0.87–0.92). A classification and score equivalency analysis was performed between triage and the NEWS2 scale in terms of mortality. Of the patients classified as triage I, 32.3% died, and those who obtained a NEWS2 score greater than or equal to 10 had a mortality of 38.6%. Among our population, NEWS2 was not inferior in its area under the receiver operating characteristic curve when predicting mortality than triage, and the cutoff point for NEWS2 to predict in-hospital mortality was higher.La Puntuación Nacional de Alerta Temprana (NEWS) -2 es una escala de alerta temprana que se utiliza en los departamentos de emergencia para identificar a los pacientes en riesgo de deterioro clínico y ayudar a establecer un manejo rápido y oportuno. El objetivo de este estudio fue determinar la validez y predicción de la mortalidad mediante la escala NEWS2 para adultos en el servicio de urgencias de una clínica terciaria en Colombia. Se realizó un estudio observacional prospectivo entre agosto de 2018 y junio de 2019 en la Clínica Universidad de La Sabana. El personal de enfermería en el triaje clasificó a los pacientes ingresados ​​en urgencias según el Índice de Severidad de Emergencia y NEWS2. Se extrajeron datos demográficos, variables fisiológicas, diagnóstico de ingreso, resultado de mortalidad y comorbilidades. Se incluyeron en el estudio tres mil novecientos ochenta y seis pacientes. Noventa y dos (2%) pacientes requirieron manejo en unidad de cuidados intensivos, con una puntuación media en NEWS2 de 7. Un total de 158 pacientes fallecieron en el hospital, de los cuales 63 eran mujeres (40%). De estos 65 pacientes requirieron manejo en unidad de cuidados intensivos. La curva de características operativas del receptor para NEWS2 tuvo un área de 0,90 (IC 95%: 0,87-0,92). Se realizó un análisis de clasificación y equivalencia de puntuación entre el triaje y la escala NEWS2 en términos de mortalidad. De los pacientes clasificados en triaje I, el 32,3% falleció, y los que obtuvieron un puntaje NEWS2 mayor o igual a 10 tuvieron una mortalidad del 38,6%. Entre nuestra población, NEWS2 no fue inferior en su área bajo la curva de características operativas del receptor al predecir la mortalidad que el triaje, y el punto de corte para NEWS2 para predecir la mortalidad hospitalaria fue mayor

A Systematic Review on Cannabinoids for Neuropathic Pain Administered by Routes Other than Oral or Inhalation

The use of cannabis and cannabinoid products for the treatment of neuropathic pain is a growing area of research. This type of pain has a high prevalence, limited response to available therapies and high social and economic costs. Systemic cannabinoid-based therapies have shown some unwanted side effects. Alternative routes of administration in the treatment of neuropathic pain may provide better acceptance for the treatment of multiple pathologies associated with neuropathic pain. To examine the efficacy, tolerability, and safety of cannabinoids (individualized formulations, phytocannabinoids, and synthetics) administered by routes other than oral or inhalation compared to placebo and/or conventional medications in the management of neuropathic pain. This systematic review of the literature reveals a lack of clinical research investigating cannabis by routes other than oral and inhalation as a potential treatment for neuropathic pain and highlights the need for further investigation with well-designed clinical trials. There is a significant lack of evidence indicating that cannabinoids administered by routes other than oral or inhaled may be an effective alternative, with better tolerance and safety in the treatment of neuropathic pain. Higher quality, long-term, randomized controlled trials are needed to examine whether cannabinoids administered by routes other than inhalation and oral routes may have a role in the treatment of neuropathic pain

¿Qué perciben los estudiantes de medicina sobre sus conocimientos en dolor? Análisis de la situación en Colombia

6 páginasEn Colombia no existe información publicada sobre percepción en conocimientos de dolor en estudiantes de medicina ni sobre los contenidos curriculares relacionados con dolor. Se diseñó un estudio descriptivo para evaluar la percepción en los conocimientos en dolor en estudiantes de último año de medicina de la Asociación Colombiana de Facultades de Medicina. Es un estudio de corte transversal utilizando una encuesta prediseñada. Se invitaron a participar todas las escuelas de Medicina adscritas a la Asociación Colombiana de Facultades de Medicina. Participaron voluntariamente los estudiantes de último año de Medicina. La información se recolectó y analizó de manera ciega. Respondieron 11 de las 23 Facultades invitadas (48%) para un total de 368 sujetos. El 83,7% de los encuestados respondió que en su facultad no existe una cátedra establecida de dolor; el 67,4/% de los encuestados considera que no recibió suficiente formación en dolor durante el pregrado; el 78% no se siente seguro para iniciar el manejo de un paciente con dolor oncológico, el 69% no se siente seguro para iniciar el manejo de un paciente con dolor neuropático y un 44% no se siente seguro para iniciar el manejo de un paciente con dolor postoperatorio. El 81% informa un no utilizar escalas para evaluar el dolor y un 42,5% no diferencia entre dolor nociceptivo y dolor neuropático. El 86% de los encuestados no utilizan cuando está indicada la escalera analgésica de la Organización Mundial de la Salud. El 73% de los estudiantes considera que no tiene conocimientos adecuados sobre opioides y que la depresión respiratoria (68%) y la adicción (73%) son los principales temores para formularlos. En relación con los antiinflamatorios no esteroideos el mayor desconocimiento ocurre en la diferenciación efectos farmacológicos y las indicaciones. El 68,8% de los encuestados no conoce el mecanismo de acción de los bloqueadores de receptores NMDA. La percepción sobre los conocimientos en fisiopatología, evaluación, semiología, terapéutica y en políticas mundiales para manejo de dolor son deficientes en Colombia. Esto puede relacionarse con la ausencia de cátedras específicas de dolor en las Facultades de Medicin

Developing palliative care capacity in Colombia and Mexico.

103 Background: Access to pain relief and palliative care often is limited or absent in low-and-middle-income countries (LMICs). Consequently, millions of patients with cancer and other serious illnesses in LMICs suffer needlessly. Multiple stakeholders have joined efforts to enhance the delivery of palliative care, develop national plans, and advocate for improved policies and regulations in Colombia and Mexico with applications to other LMICs. Methods: In Mexico and Colombia, efforts to improve access to palliative care focus on regulatory frameworks, finance, delivery, research and capacity-building, as per World Health Organization recommendations. In Colombia, health and educational institutions have partnered with non-governmental organizations to advise the Ministry of Health (MOH) and Senate. In Mexico, a range of governmental, legislative and private institutions are developing a National Palliative Care Plan. Results: Colombia: Laws passed in 2010 and 2013 require palliative care be available for all cancer patients. The allowable length of opioid prescriptions has been extended from 10 to 30 days, strong opioids must be freely available, and the MOH requires at least 1 pharmacy per State be able to dispense opioids 24/7. Mexico: Amendments to the health law introduced palliative care and pain management as a right for people with terminal illness. The government plans a new digital system to make opioid prescribing more efficient and secure, and the pharmaceutical industry is developing systems for monitoring production and supply. Yet, in both countries, palliative care training is mandatory in less than 5% of medical schools and innovative materials are being developed to train practicing primary care personnel. Conclusions: To meet palliative care needs in LMICs, novel approaches are required to develop and implement national plans, train healthcare providers, educate government officials, and advocate for policies that improve equitable access. Exemplary work in Colombia and Mexico illustrate effective strategies to improve palliative care delivery in LMICs

Planning cancer control in Latin America and the Caribbean

Non-communicable diseases, including cancer, are overtaking infectious disease as the leading health-care threat in middle-income and low-income countries. Latin American and Caribbean countries are struggling to respond to increasing morbidity and death from advanced disease. Health ministries and health-care systems in these countries face many challenges caring for patients with advanced cancer: inadequate funding; inequitable distribution of resources and services; inadequate numbers, training, and distribution of health-care personnel and equipment; lack of adequate care for many populations based on socioeconomic, geographic, ethnic, and other factors; and current systems geared toward the needs of wealthy, urban minorities at a cost to the entire population. This burgeoning cancer problem threatens to cause widespread suffering and economic peril to the countries of Latin America. Prompt and deliberate actions must be taken to avoid this scenario. Increasing efforts towards prevention of cancer and avoidance of advanced, stage IV disease will reduce suffering and mortality and will make overall cancer care more affordable. We hope the findings of our Commission and our recommendations will inspire Latin American stakeholders to redouble their efforts to address this increasing cancer burden and to prevent it from worsening and threatening their societies.SCOPUS: re.jinfo:eu-repo/semantics/publishe