ABSTRACT
INTRODUCTION: We aimed to analyse health care services for adolescents and young adults (AYA) with sarcomas in Spain. METHODS: A survey was sent to all Spanish cancer centres, including questions about demographic, facilities, and treatment strategies for AYAs with sarcomas in the last 2 years. RESULTS: Thirty-five units participated in the survey, 17 paediatric and 15 adult units. There were three specialized AYA units. First line regimen varied depending on whether the treating unit was paediatric or not, for osteosarcomas, rhabdomyosarcomas, and non-rhabdomyosarcomas. By contrast, 91.4% of Ewing sarcomas were treated according to EE2012. In the relapse setting, differences between units were higher in all tumours. Additionally, 48% of the units reported not having trials for this population. CONCLUSION: There are major differences in the treatment of AYAs with sarcomas between adult and paediatric units. Enormous efforts are needed to homogenize treatments and increase the access to innovation.
Subject(s)
Bone Neoplasms , Neoplasms , Osteosarcoma , Sarcoma , Soft Tissue Neoplasms , Adolescent , Bone Neoplasms/epidemiology , Bone Neoplasms/therapy , Child , Humans , Neoplasm Recurrence, Local , Neoplasms/epidemiology , Osteosarcoma/therapy , Sarcoma/therapy , Spain , Young AdultABSTRACT
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and sex-matched populations. MCPH is associated with a nonprogressive mild to severe intellectual disability, with normal brain structure in most patients, or with a small brain and gyri without visceral malformations. We present the case of an adult patient born from Argentinian nonconsanguineous healthy parents. He had a head circumference >5 SD below the mean, cerebral neuroimaging showing hypoplasia of the corpus callosum, bilateral migration disorder with heterotopia of the sylvian fissure and colpocephaly. The patient was compound heterozygous for pathogenic variants in the CENPJ gene (c.289dupA inherited from his mother and c.1132 C > T inherited from his father). Our patient represents an uncommon situation for the usual known context of CENPJ and MCPH, including family origin (Argentinian), pedigree (nonconsanguineous), and genotype (a compound heterozygous case with two variants predicting a truncated protein). Next-generation sequencing studies applied in a broader spectrum of clinical presentations of MCPH syndromes may discover additional similar patients and families.
ABSTRACT
OBJECTIVE: To explore which socioeconomic and demographic characteristics influence Colombian women to utilize screening mammography (SMMG). MATERIALS AND METHODS: Data of women aged 40-49 years (n=12 345) and 50-69 years (n=14 771) from the Colombian national survey of demography and health 2010 was analyzed. Risk estimates (odds ratios, OR) of self-reported SMMG use were obtained using logistic regression. RESULTS: Among women aged 50-69 years, high wealth index (OR=4.7; CI95%, 3.9-5.8), affiliation to special or contributory health insurance regime (OR=3.4; CI95% 2.6-4.6 and OR=2.5; CI95% 2.1-3.0 respectively), health consultation in previous year (OR=2.7; CI95% 2.3-3.1), high education level (OR=2.3; CI95% 1.8-2.9) and very good self-reported health (OR=1.5; CI95% 1.1-2.0) positively influenced SMMG utilization. Among women aged 40-49 years, likelihood of having a SMMG was high after a health consultation in the previous year. CONCLUSIONS: Socioeconomic and demographic differences in use of SMMG need to be contemplated in screening recommendations before considering an organized population-based programme.
Subject(s)
Breast Neoplasms/diagnosis , Early Detection of Cancer/statistics & numerical data , Mammography/statistics & numerical data , Adult , Aged , Colombia , Female , Humans , Middle Aged , Socioeconomic FactorsABSTRACT
Objective. To explore which socioeconomic and demographic characteristics influence Colombian women to utilize screening mammography (SMMG). Materials and methods. Data of women aged 40-49 years (n=12 345) and 50-69 years (n=14 771) from the Colombian national survey of demography and health 2010 was analyzed. Risk estimates (odds ratios, OR) of self-reported SMMG use were obtained using logistic regression. Results. Among women aged 50-69 years, high wealth index (OR=4.7; CI95%, 3.9-5.8), affiliation to special or contributory health insurance regime (OR=3.4; CI95% 2.6-4.6 and OR=2.5; CI95% 2.1-3.0 respectively), health consultation in previous year (OR=2.7; CI95% 2.3-3.1), high education level (OR=2.3; CI95% 1.8-2.9) and very good self-reported health (OR=1.5; CI95% 1.1-2.0) positively influenced SMMG utilization. Among women aged 40-49 years, likelihood of having a SMMG was high after a health consultation in the previous year. Conclusions. Socioeconomic and demographic differences in use of SMMG need to be contemplated in screening recommendations before considering an organized population-based programme.
Objetivo. Explorar qué características socioeconómicas y demográficas influencian la utilización de mamografía de tamizaje (MT) en mujeres colombianas. Material y métodos. Se analizaron datos de mujeres entre 40 y 49 años (n=12 345) y 50-69 años (n=14 771) de la Encuesta Nacional de Demografía y Salud 2010 y estimaciones de riesgo (odds ratios, OR) del uso autorreportado de MT obtenidas usando regresión logística. Resultados. En mujeres de 50-69 años con alto índice de riqueza (OR=4.7; IC95% 3.9-5.8), la afiliación al seguro de salud especial o contributivo (OR=3.4; IC95% 2.6-4.6 y OR=2.5; 2.1-3.0 respectivamente), consulta de salud el año previo (OR=2.7; IC95% 2.3-3.1), alto nivel educativo (OR=2.3; IC95% 1.8-2.9) y muy buena salud autoreportada (OR=1.5; IC95% 1.1-2.0) influyeron positivamente en la utilización de MT. En mujeres de 40 y 49 años, hubo alta probabilidad de uso de MT si había consulta de salud el año previo. Conclusiones. Las diferencias socioeconómicas y demográficas en uso de MT deben contemplarse en recomendaciones de cribado antes de implementar tamización organizada.