Factors associated with pain at the end-of-life among older adults in Mexico.

OBJECTIVES: The goal of care at the end-of-life has changed in recent years to encompass not only the relief of suffering but also improve the quality of death. Palliative care offers a coordinated and multidisciplinary approach to improving the quality of life and quality of care of individuals and their families facing illness at the end-of-life. This manuscript examines the end-of-life of older adults in Mexico and the factors associated with pain in this period of their life. STUDY DESIGN: We used data from the Mexican Health and Aging Study (MHAS), a longitudinal panel study of adults 50 years and older in Mexico that is nationally representative of urban and rural areas and includes a next-of-kin questionnaire that captures the conditions during the last year of life of those who died. We used all four waves of data to construct a group of deceased individuals between 2001 and 2015, including information in the wave immediately before death and a complete next-of-kin questionnaire. We studied factors associated with pain at the end-of-life in this group. METHODS: The dependent variable was pain reported over time among deceased individuals. We constructed pain categories based on whether the pain was reported in one or two waves (occasional and persistent), and the pain intensity reported (mild, moderate, or severe). We included independent variables previously reported to be related to pain, including sociodemographic, functional, and health characteristics. We used descriptive statistics and a multinomial regression model to examine the factors associated with pain in this group. RESULTS: Pain was reported by 71.5% of older adults who died between 2001 and 2015. The prevalence of pain differed significantly by sociodemographic characteristics. Women had 1.69 higher odds of reporting severe pain than men. Compared to those with zero years of education, the odds of reporting severe pain were 0.72 for those with 1-6 years of education (P < 0.05) and 0.55 for those with more than 7 years (P < 0.001). Poor self-reported health, arthritis, taking more medications, depression, and functional limitations in the wave prior to death were associated with higher odds of persistent pain at the end-of-life (P < 0.05). Conversely, older age, more years of education, and diabetes were associated with lower odds of persistent pain (P < 0.001). CONCLUSIONS: The prevalence of pain among older Mexican adults is high at the end-of-life. Sociodemographic factors, some chronic diseases, number of medications, psychosocial factors, and functional status impact the odds of reporting pain in this group at the end-of-life. Providing education to families on psychosocial interventions to improve the quality of care at the end-of-life is a pressing need in Mexico. These findings provide information to help policymakers and healthcare providers in Mexico improve the quality of care at the end-of-life.

Exposure to Radioactive Emanations of Medical Personnel in Percutaneous Nephrolithotomy.

The use of radioactive emanations has been of great importance for the performance of endourology procedures, such as percutaneous nephrolithotomy (NLP). The damage to health caused by radiation has been a sensitive issue. The objective of this work was to determine the dose received by the surgeon during NLP and the total dose generated by the fluoroscope. A cross-sectional study was conducted with data from a cohort study with a duration of 18 months that included 101 patients. Radiation was measured with dosimeter during the last 6 months. During the last 6 months of the study, 34 patients were submitted to surgery. The average age was 47 years. Average fluoroscopy time was 58.3 second (24-122 seconds) in both male and female groups, with 57.16 seconds and 58.95 seconds per case, respectively (P = .6). Radiation emitted during 6 months for the 34 patients was 330.5 mGy. The total radiation measured by the dosimeter was 1 mSv, which is equivalent to 0.3% of the total radiation applied during the procedures. Doses measured by the dosimeter on the surgeon were within the recommended annual doses although dose received by the hands exceeds the authorized limits (500 mSv/y).

Antecedentes perinatales y familiares en trastornos del espectro autista / Perinatal and family history in autism spectrum disorders

OBJETIVO: evaluar los factores de riesgo perinatales y las características parentales en los Trastornos del Espectro Autista (TEA). MÉTODO: Se compararon las condiciones obstétricas y las características parentales entre los TEA y dos grupos control sin TEA (unos del servicio de urgencias y el otro de las consultas de psiquiatría del niño y adolescente y del Hospital de Día). RESULTADOS: Hubo 20 pacientes en cada grupo (17 varones y 3 mujeres), con edades de 6-18 años. En el grupo de Trastornos Generalizados del Desarrollo (TGD) hubo 4 Trastorno Autista, 11 Trastorno de Asperger y 5 Trastorno del Espectro Autista no especificado (TGDNE). Técnicas de reproducción asistida en 20% del grupo TGD y 5% en el grupo control B. Todos los del grupo control A fueron gestaciones espontánea (p = 0.039). Hubo diferencias estadísticamente significativas en las enfermedades maternas entre grupo de casos y control A (p = 0.041). Parto fue por cesárea en el 65% del grupo TGD, 35% en el grupo control A y 25% en el grupo control B (p = 0.039). Hubo diferencias estadísticamente significativas en la historia psiquiátrica maternal y familiar entre los 3 grupos (p = 0.008 y p = 0.001). TGD fueron diagnosticados en el 30% de los familiares del grupo de TGD y en ninguno de los grupos controles (p = 0.01). CONCLUSIONES: Este estudio ha encontrado factores de riesgo obstétricos y características parentales relacionadas con TDG de acuerdo con la literatura. Futuro estudios deberían tratar de identificar factores obstétricos y entender su relación con procesos genéticamente influenciados en el desarrollo temprano

OBJECTIVE: To evaluate perinatal risk factors and parental characteristics in Autistic Spectrum Disorder (ASD). METHOD: Obstetric conditions and parental characteristics were compared between ASD and two control groups without ASD (one from emergency room and the other from psychiatry outpatient service and day-care hospital). RESULT: There were 20 patients in each group (17 boys and 3 girls), ages 6-18. The pervasive developmental disorder (PDD) case group had 4 Autistic, 11 Asperger's and 5 pervasive developmental disorder not otherwise specified (PDD-NOS). Assisted pregnancies in 20% of PDD case group and 5% of control group B. All control group A were spontaneous pregnancies (p = 0.039). Statistically significant differences in maternal disease between PDD case and control group A (p = 0.041). Delivered by cesarean section in 65% of PDD case group, against 35% control A group and 25% of control B group (p = 0.039). Statistically significant differences in family and maternal psychiatry history between three groups (p = 0.008 and p = 0.001). ASD has been diagnosed in 30% of relatives in PDD case group and none in control groups (p = 0.01). CONCLUSION: This study found some obstetric and parental risk factors related with ASD, according to the literature. Future research should attempt to identify obstetric factors and understand their relationship with different genetically influenced processes in early development

Seudotumor inflamatorio en paciente pediátrico / Inflammatory pseudotumor in a five-year-old girl

El seudotumor inflamatorio es la masa pulmonar primaria más frecuente en niños, simulando en muchos casos una neumonía organizada desde el punto de vista de la imagen. Otra localización común de este proceso patológico es la órbita, aunque puede asentar en cualquier parte del cuerpo. Se trata de una lesión poco común y cuasi neoplásica, ya que radiológica y clínicamente se comporta como un tumor maligno. La patogenia, su historia natural, los hallazgos por imagen y las opciones de tratamiento todavía se discuten (AU)

Inflammatory pseudotumor is the most common primary lung mass in children. In many cases, it mimics organizing pneumonia on imaging tests. Another site often affected by inflammatory pseudotumors is the orbit, although they can be found in any part of the body. Inflammatory pseudotumors are rare and quasi-neoplastic, as radiologically and clinically they behave like malignant tumors. Consensus about their pathogenesis, natural history, imaging findings, and treatment options has yet to be reached (AU)

I Conferencia Nacional de Consenso sobre el Injerto Óseo del Seno Maxilar / 1st National Consensus Conference on maxillar sinus bone grafts

Objetivo: El objetivo de la I Conferencia Española de Consenso sobre el Injerto Óseo Sinusal era intentar llegar a puntos de acuerdo sobre las principales controversias de esta técnica, aplicada de forma muy variada y con el empleo de materiales muy diversos, y conseguir plasmar los mismos en un documento resumen consensuado por todos los autores. Material y método: Durante los días 17 y 18 de octubre de 2008 se celebró en Oviedo la citada conferencia, auspiciada por la Sociedad Española de Cirugía Oral y Maxilofacial. En ella se dieron cita un total de 50 ponentes de reconocido prestigio nacional e internacional que repasaron en 6 mesas de trabajo las principales controversias sobre los injertos óseos sinusales. Tras las conferencias de los ponentes, los moderadores establecían las principales conclusiones de cada mesa y se abría un turno de debate donde participaban todos los asistentes. Resultado: Este documento y sus conclusiones emanan de las presentaciones realizadas por los ponentes y de las deliberaciones y acuerdos de cada mesa de trabajo. Ambos han sido aprobados tras varias correcciones por todos los autores antes de ser enviados para su publicación. Además, han obtenido el reconocimiento científico oficial de la Sociedad Española de Cirugía Oral y Maxilofacial y deben servir como base para futuros estudios y reuniones científicas. Conclusiones: El objetivo fundamental cuando se realiza un injerto óseo sinusal es la formación de hueso vital en el seno maxilar, para conseguir la supervivencia a largo plazo de los implantes tras su carga protésica. Para ello, la técnica y la secuencia de tratamiento deben orientarse a conseguir resultados predecibles y estables en el tiempo, aunque esto suponga un mayor tiempo de espera hasta la colocación de la prótesis. La estabilidad inicial del implante es el factor clave para la osteointegración y debe ser el principal criterio para indicar implantes simultáneos o diferidos en el seno maxilar(AU)

Objective: The objectives of the first Spanish Consensus Conference on Sinus Bone Graft were trying to reach agreements points on the major controversies of this technique, and translate them in a summary document. Material and method: During the 17th and 18th of October of 2008 took place in Oviedo (Spain) the Conference, sponsored by the Spanish Society of Oral and Maxillofacial Surgery. There, 50 national and international speakers reviewed in 6 workshops the major controversies of sinus bone grafts. Following the conferences, the moderators proposed the main conclusions of each workshop and opened a round of discussion where all attendees participated. Results: This document and its conclusions emanate from the presentations made by the speakers and the discussions and agreements of each workshop. Both have been approved after several corrections by all authors before being submitted for publication. They have also obtained the official scientific recognition of the Spanish Society of Oral and Maxillofacial Surgery and should serve as a basis for future scientific studies and meetings. Conclusions: The main objective when we perform a sinus bone graft is vital bone formation in the maxillary sinus, to achieve long-term survival of the implants after prosthetic loading. To do this, the technique and sequence of treatment should aim to achieve predictable and stable results over time, although this involves a longer waiting time. The initial implant stability is the key factor for osseointegration and should be the main criterion to indicate simultaneous or delayed implants in the maxillary sinus(AU)

Estudio colaborativo de abortos espontáneos: empleo de técnicas moleculares en muestras cuyo resultado citogenético no puede ser establecido / Colaborative study of spontaneus abortion: use of molecular techniques in failure culture samples

Introducción. El conocimiento de la causa de abortopermite ofrecer un adecuado consejo genético, además dereducir el estrés psicológico y el sentimiento de culpabilidadgenerado en la mujer tras sufrir un aborto. En la actualidadel estudio de abortos se realiza mediante técnicas citogenéticas,aunque muchas veces no es posible ofrecer un diagnósticodebido al fracaso de cultivo que acontece entre el5-42 % de los casos. En este trabajo se pretende evaluar lasensibilidad de las técnicas moleculares para el estudio dealteraciones cromosómicas en aquellos casos cuyo resultadocitogenético no puede ser establecido.Metodología. Se han estudiado 70 muestras de abortosdel primer y segundo trimestre de gestación mediante citogenéticay genética molecular (Quantitative FluorescentPolymerase chain Reaction [QF-PCR] y Multiplex ligationdependentProbe Amplification [MLPA]).Resultados. No se pudo establecer un resultado citogenéticoen el 37,2 % de las muestras. 44 fueron cariotipadas,obteniéndose 37 cariotipos normales y 7 anómalos. El estudiomolecular permitió establecer una dotación cromosómicaen el 100% de los casos, se encontraron alteraciones en10, de los cuales 3 carecían de resultado citogenético.Conclusiones. Se propone incluir en el protocolo de estudiode abortos el empleo de las técnicas citadas en casode fracaso del cultivo celular. La colaboración entre laboratoriosde citogenética y genética molecular especializados,permitiría ofrecer un resultado a la mayoría de las pacientes,esencial a la hora de poder establecer un adecuado consejogenético(AU)

Introduction. The knowledge of miscarriage causepermits offering an appropriate genetic counselling andmoreover, reduces psychological distress and self blamefeelings in women with a miscarriage. Nowadays, chromosomalstudy of abortions is mostly performed usingcytogenetic techniques. In few cases, no diagnosis can beestablished due to the high rate of culture failure (5-42%). Here, we try to evaluate the usefulness of moleculartechniques for the chromosomal study of those casesin which a cytogenetic result can not be established.Methods. A total of 70 miscarriage samples from thefirst and second trimesters of gestation have been studiedby karyotyping and molecular techniques (QF-PCRy MLPA).Results. The karyotype could not be established in37.2% of cases. Karyotype could be obtained in 44 samples,being 37 normal and 7 chromosomally abnormal.Molecular studies permitted to obtain a result in 100% ofthe cases, finding abnormalities in 10 of them, including3 in which the karyotype had not been established.Conclusions. We propose the use of molecular techniquesin those cases in which the culture fails. The collaborationbetween cytogenetic and molecular laboratorieswould permit to establish a result in the majority ofcases, which would represent an improvement for the offeringof an appropriate genetic counselling(AU)

Hallazgos radiológicos en el síndrome de hipotensión intracraneal / Radiological findings in intracranial hypotension syndrome

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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.

BACKGROUND AND PURPOSE: The presence of cell-free fetal DNA in maternal plasma could allow performing a non-invasive prenatal diagnosis of Huntington disease (HD). The great advantage of this diagnosis is the absence of risk of fetal loss that it entails. METHODS: Maternal plasma from four pregnant women in their first trimester of gestation with a fetus at-risk was studied. In all the four cases, the father was affected. RESULTS: The diagnosis was performed both by a direct study of the mutation and an indirect haplotype study. By the direct analysis, three out of the four fetuses could be correctly diagnosed whilst the indirect analysis was only conclusive in one case. CONCLUSIONS: Non-invasive prenatal diagnosis of HD is possible by the analysis of fetal DNA in maternal plasma. Direct analysis of the mutation has shown higher accuracy than the haplotype analysis except for long expansions. Haplotype analysis would need to be improved for the study of Juvenile-onset HD. This diagnostic method would be limited to those couples with an affected male however this situation represents 80-90% of the pregnancies at-risk of HD. Moreover, it could be used as a confirmation test of healthy embryos transferred on pre-implantation genetic studies of HD.

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.

The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X-linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis.

Granulación aracnoidea gigante / Giant arachnoid granulations

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Lesión reversible en el cuerpo calloso / Reversible injury in the corpus callosum

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Prenatal diagnosis of 46, XX male fetus.

Prenatal diagnosis of sex differentiation disorders is extremely rare and is estimated in 1/2500 analyzed gestations. A group of this disorders are the 46, XX males and its incidence is estimated in 1/20000 male neonates. We report a male XX fetus in which the diagnosis of sex determination was requested at 20 gestation weeks to clarify the real gender of the fetus. Discrepancy between cytogenetic and ultrasonographic was detected.

Diagnóstico prenatal no invasivo en células fetales obtenidas de sangre periférica materna / Non-invasive prenatal diagnosis on fetal cells from maternal blood

El aislamiento de los eritroblastos fetales presentes en la sangre materna para su posterior estudio representa un prometedor método de diagnóstico prenatal no invasivo.En nuestro laboratorio hemos realizado un estudio poblacional con el que se pretendía realizar una valoración práctica de las técnicas desarrolladas para un diagnóstico prenatal no invasivo. Para el enriquecimiento de las muestras en eritroblastos fetales se empleó el método que se consideró más adecuado para la rutina del laboratorio y para su posterior estudio mediante técnica de FISH. El estudio permitió determinar que la mayor sensibilidad diagnóstica se obtenía en la semana 15 de gestación (76 por ciento), observándose una clara diferencia entre la sensibilidad obtenida en el primer (25 por ciento) y segundo (61,5 por ciento) trimestre de gestación. Distintos grupos están trabajando para modificar las técnicas actuales y así obtener mejores resultados. Sin embargo, desde el punto de vista de una unidad de diagnóstico prenatal existen todavía aspectos que han de resolverse: - No hay un consenso acerca de la mejor semana para realizar el estudio.- Las técnicas son laboriosas y no recuperan un número suficiente de células para el estudio.- La sensibilidad alcanzada no es óptima. - E I coste es muy caro. Por todo ello esta técnica no puede aplicarse todavía a la rutina del diagnóstico prenatal. En el presente artículo, además de presentar nuestros resultados, se discute sobre el estado actual del tema, así como las perspectivas futuras (AU)

ADN fetal en plasma de gestante: aplicaciones en el diagnóstico prenatal / Fetal DNA in maternal plasma: applications in prenatal diagnosis

La presencia de ADN fetal en el suero y el plasma de gestante está llevando al desarrollo de diferentes estrategias para realizar diagnóstico prenatal no invasivo. Hasta el momento diversos autores han publicado principalmente resultados en la detección de sexo fetal y factor RhD. Estos datos han motivado que nuestro grupo evalúe esta metodología para su posible aplicación diagnóstica. Hemos obtenido resultados satisfactorios en la determinación de sexo fetal, enfermedades mendelianas de origen paterno (como fibrosis quistica y corea de Huntington), así como en la determinación del factor RhD fetal (AU)

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.