Gene expression profiles of breast cancer metastasis according to organ site

In advanced breast cancer, biomarker identification and patient selection using a metastatic tumor biopsy is becoming more necessary. However, the biology of metastasis according to the organ site is largely unknown. Here, we evaluated the expression of 771 genes in 184 metastatic samples across 11 organs, including liver, lung, brain, and bone, and made the following observations. First, all PAM50 molecular intrinsic subtypes were represented across organs and within immunohistochemistry‐based groups. Second, HER2‐low disease was identified across all organ sites, including bone, and HER2 expression significantly correlated with ERBB2 expression. Third, the majority of expression variation was explained by intrinsic subtype and not organ of metastasis. Fourth, subtypes and individual subtype‐related genes/signatures were significantly associated with overall survival. Fifth, we identified 74 genes whose expression was organ‐specific and subtype‐independent. Finally, immune profiles were found more expressed in lung compared to brain or liver metastasis. Our results suggest that relevant tumor biology can be captured in metastatic tissues across a variety of organ sites; however, unique biological features according to organ site were also identified and future studies should explore their implications in diagnostic and therapeutic interventions.     

Automanejo en personas con multimorbilidad: aportes desde la salutogénesis y el modelo de activos en salud

Diferentes modelos de cuidado en contexto de cronicidad y multimorbilidad incorporan a la comunidad, sistema de salud, práctica clínica, políticas sanitarias, prevención y promoción de salud. Entre estos se señala el rol facilitador del equipo de salud en el automanejo, siendo las personas protagonistas de su proceso. El abordaje de la multimorbilidad se realiza mayormente desde un enfoque centrado en el riesgo y la enfermedad, limitando la exploración de los recursos de las personas y su entorno. Incorporar un enfoque de salud positiva puede aportar a una mayor integralidad. El propósito de este artículo es proponer un abordaje desde el modelo sinérgico de salud, integrando la salutogénesis y el modelo de activos, para facilitar el automanejo promoviendo la capacidad de agencia de las personas. Se presentan potenciales áreas de aplicación de estos modelos en el contexto de multimorbilidad, fomentando condiciones de salud y bienestar en las personas y sus familias.Palabras clave: Multimorbilidad, Automanejo, Salutogénesis, Recursos de Salud     

Optimizing infant HIV diagnosis with additional screening at immunization clinics in three sub‐Saharan African settings: a cost‐effectiveness analysis

IntroductionUptake of early infant HIV diagnosis (EID) varies widely across sub‐Saharan African settings. We evaluated the potential clinical impact and cost‐effectiveness of universal maternal HIV screening at infant immunization visits, with referral to EID and maternal antiretroviral therapy (ART) initiation.MethodsUsing the CEPAC‐Pediatric model, we compared two strategies for infants born in 2017 in Côte d’Ivoire (CI), South Africa (SA), and Zimbabwe: (1) existing EID programmes offering six‐week nucleic acid testing (NAT) for infants with known HIV exposure (EID), and (2) EID plus universal maternal HIV screening at six‐week infant immunization visits, leading to referral for infant NAT and maternal ART initiation (screen‐and‐test). Model inputs included published Ivoirian/South African/Zimbabwean data: maternal HIV prevalence (4.8/30.8/16.1%), current uptake of EID (40/95/65%) and six‐week immunization attendance (99/74/94%). Referral rates for infant NAT and maternal ART initiation after screen‐and‐test were 80%. Costs included NAT ($24/infant), maternal screening ($10/mother–infant pair), ART ($5 to 31/month) and HIV care ($15 to 190/month). Model outcomes included mother‐to‐child transmission of HIV (MTCT) among HIV‐exposed infants, and life expectancy (LE) and mean lifetime per‐person costs for children with HIV (CWH) and all children born in 2017. We calculated incremental cost‐effectiveness ratios (ICERs) using discounted (3%/year) lifetime costs and LE for all children. We considered two cost‐effectiveness thresholds in each country: (1) the per‐capita GDP ($1720/6380/2150) per year‐of‐life saved (YLS), and (2) the CEPAC‐generated ICER of offering 2 versus 1 lifetime ART regimens (e.g. offering second‐line ART; $520/500/580/YLS).ResultsWith EID, projected six‐week MTCT was 9.3% (CI), 4.2% (SA) and 5.2% (Zimbabwe). Screen‐and‐test decreased total MTCT by 0.2% to 0.5%, improved LE by 2.0 to 3.5 years for CWH and 0.03 to 0.07 years for all children, and increased discounted costs by $17 to 22/child (all children). The ICER of screen‐and‐test compared to EID was $1340/YLS (CI), $650/YLS (SA) and $670/YLS (Zimbabwe), below the per‐capita GDP but above the ICER of 2 versus 1 lifetime ART regimens in all countries.ConclusionsUniversal maternal HIV screening at immunization visits with referral to EID and maternal ART initiation may reduce MTCT, improve paediatric LE, and be of comparable value to current HIV‐related interventions in high maternal HIV prevalence settings like SA and Zimbabwe.     

Speech performance in adult patients undergoing Invisalign treatment:: A prospective clinical study

ObjectivesTo assess speech performance of adult patients undergoing orthodontic treatment with Invisalign.Materials and MethodsTwenty-four adult patients with Invisalign (Invisalign group: 6 men, 18 women; average age; 34.88 years) and 20 adult patients with fixed labial appliances (fixed group: 5 men, 15 women; average age; 38.85 years) were evaluated. Speech was recorded immediately before delivery of the first set of clear aligners or bonding of labial appliances (T₀), immediately after delivery or bonding (T₁), and 2 months after delivery or bonding (T₂). Speech was evaluated via a combination of three auditory analyses: (1) objective acoustic analysis through digital sonography, (2) semiobjective assessment by six speech and language pathologists, and (3) subjective assessment patient questionnaire.ResultsThe objective acoustic analysis showed a statistically significant difference over time from T₀ to T₁, T₁ to T₂, and T₀ to T₂ for Invisalign patients. The semiobjective analysis revealed a significant speech alteration from T₀ to T₁ and T₁ to T₂ for both groups, and from T₀ to T₂ in the Invisalign group. The subjective analysis showed a significant difference between means of Invisalign and fixed group patient perception at both T₁ and T₂.ConclusionsInvisalign treatment significantly affected speech, and although patients experience some level of adaptation, speech does not return to normal after 2 months of treatment.     

Prevalencia de síntomas depresivos y diagnóstico de sospecha de depresión en pacientes con EPOC

ObjetivoConocer la prevalencia y factores predictores de depresión en pacientes diagnosticados de enfermedad pulmonar obstructiva crónica (EPOC) y remitidos desde Atención Primaria a consultas de Neumología, servicios que comparten la atención al proceso EPOC.DiseñoEstudio observacional, multicéntrico, prospectivo con muestreo no probabilístico, transversal.EmplazamientoDos consultas de neumología de dos hospitales de diferente nivel asistencial.ParticipantesSe diagnosticaron 293 pacientes de EPOC en fase estable de la enfermedad.IntervencionesAplicación de cuestionarios clínicos habituales en la EPOC y test HADS (Hospital Anxiety and Depression Scale).VariablesVariables demográficas, clínicas y funcionales de la EPOC y escala de depresión del test HADS (Hospital Anxiety and Depression Scale).ResultadosSe incluyeron 229 hombres (78,16%) y 64 mujeres (21,8%), con una edad media de 68,2 ± 10,3 años, de los que 93 (31,7%) eran fumadores activos y 200 (68,3%) exfumadores. El 19,45% de los pacientes tenía diagnóstico clínico previo de depresión, pero mediante el test HADS se estableció el diagnóstico de sospecha en el 32,6%. Las variables predictoras fueron: ser mujer, vivir solo y variables relacionadas con la gravedad de la enfermedad (volumen espiratorio forzado en 1 segundo [FEV1] postbroncodilatador, ser paciente de riesgo y fenotipo agudizador según criterios de la Guía Española de la EPOC [GesEPOC] y grados C y D de criterios Global Initiative for Chronic Obstructive Lung Disease [GOLD]).ConclusionesLa prevalencia de la depresión en pacientes con EPOC es alta y está infradiagnosticada. El test diagnóstico HADS es útil para establecer el diagnóstico de sospecha en las consultas de Atención Primaria y Neumología. Existen factores personales y clínicos que pueden considerar predictores y servir de orientación para determinar en qué pacientes realizar el test HADS y, en función de los resultados, derivar al paciente a una Unidad de Salud Mental para confirmar o descartar el diagnóstico.Palabras clave: EPOC, Depresión, HADS, Prevalencia, Factores de riesgo