Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

Oncología personalizada: principales biomarcadores en el pronóstico y tratamiento de tumores sólidos / Personalised oncology: main biomarkers in the prognosis and treatment of solid tumours

En las últimas décadas ha habido grandes avances en los tratamientos personalizados en pacientes oncológicos gracias a un importante desarrollo científico. El análisis genómico ha mostrado que tumores que parecían tener un origen común, en realidad constituyen un grupo de diversas entidades moleculares. Por otro lado, ha sido muy importante el desarrollo de fármacos dirigidos que actúan de forma específica en las rutas bioquímicas involucradas en el proceso oncológico. El conocimiento de la biología celular y molecular del cáncer ha hecho posible identificar los mecanismos responsables de la transformación maligna y está permitiendo utilizar nuevos marcadores de especial utilidad para definir el pronóstico y determinar el tratamiento de las enfermedades oncológicas

Due to significant scientific developments in the last decades, treatment for oncology patients has started to use more specific and personalised approaches. The genomic analysis has demonstrated that tumours that seemed similar constitute a diverse group of molecular entities. One of the most important breakthroughs is the development of targeted drugs aimed at specific biochemical pathways. Recent advances in knowledge of the cellular and molecular biology of cancer have helped in the identification of the mechanisms of cell malignant transformation, therefore allowing the use of new predictive factors and molecular treatments in cancer

Recomendaciones para el estudio genético e inmunológico en la disfunción reproductiva / Recommendations regarding the genetic and immunological study of reproductive dysfunction

Varios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e inmunológico en las parejas con disfunción en la reproducción con el fin de mejorar la asistencia sanitaria. El estudio se ha considerado altamente recomendable cuando la prueba diagnóstica es relevante para la toma de decisiones, moderada cuando estas han mostrado un resultado poco consistente y baja, cuando el beneficio de la prueba es incierto. Con la indicación de estas recomendaciones obtendremos una información relevante para el diagnóstico, pronóstico y tratamiento de la pareja con disfunción en la reproducción

In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction

El papel del laboratorio clínico en la medicina personalizada: situación actual y retos futuros / The role of the clinical laboratory in personalised medicine: Present situation and future challenges

La medicina personalizada, medicina de precisión o medicina individualizada ha sido definida como una manera de abordar el tratamiento y la prevención de las enfermedades en base a la variabilidad genética, ambiental y al estilo de vida de cada persona. Clasifica a los individuos en subpoblaciones que difieren en la susceptibilidad a desarrollar una enfermedad determinada o en la respuesta a un tratamiento específico, con el fin de aplicar el seguimiento y tratamiento más adecuado a cada paciente. La implementación de los procesos asociados a la Medicina Personalizada implica que los profesionales de laboratorio se enfrenten a una tecnología muy avanzada y poco conocida y a la dificultad de interpretación de los hallazgos, especialmente la valoración de su significación clínica. En este artículo se revisa la situación actual de la Medicina Personalizada, la función del laboratorio dentro de la misma y los retos que se deben afrontar

Personalised medicine, precision medicine, or individualised medicine has been defined as the way of preventing and treating diseases based on the genetic, environmental, and lifestyle variability for each individual. It classifies subjects into sub-populations that have different susceptibilities to develop a specific disease or to respond to a particular treatment. Its aim is to follow-up and treat each patient in the more suited to the patient. The establishment of the processes related to personalised medicine requires that specialists in Laboratory Medicine cope with cutting-edge, and little-known, technology with an interpretation that is highly complex from a clinical point of view. This review summarises the current situation of personalised medicine, the role of laboratory medicine in its implementation, and the challenges that need to be faced

Recomendaciones para el estudio genético e inmunológico en la disfunción reproductiva / Recommendations regarding the genetic and immunological study of reproductive dysfunction

Varios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e inmunológico en las parejas con disfunción en la reproducción con el fin de mejorar la asistencia sanitaria. El estudio se ha considerado altamente recomendable cuando la prueba diagnóstica es relevante para la toma de decisiones, moderada cuando estas han mostrado un resultado poco consistente y baja, cuando el beneficio de la prueba es incierto. Con la indicación de estas recomendaciones obtendremos una información relevante para el diagnóstico, pronóstico y tratamiento de la pareja con disfunción en la reproducción

In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction

Recommendations regarding the genetic and immunological study of reproductive dysfunction. / Recomendaciones para el estudio genético e inmunológico en la disfunción reproductiva.

In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction.

INSIG2 rs7566605 single nucleotide variant and global DNA methylation index levels are associated with weight loss in a personalized weight reduction program.

Single nucleotide polymorphisms associated with lipid metabolism and energy balance are implicated in the weight loss response caused by nutritional interventions. Diet­induced weight loss is also associated with differential global DNA methylation. DNA methylation has been proposed as a predictive biomarker for weight loss response. Personalized biomarkers for successful weight loss may inform clinical decisions when deciding between behavioral and surgical weight loss interventions. The aim of the present study was to investigate the association between global DNA methylation, genetic variants associated with energy balance and lipid metabolism, and weight loss following a non­surgical weight loss regimen. The present study included 105 obese participants that were enrolled in a personalized weight loss program based on their allelic composition of the following five energy balance and lipid metabolism­associated loci: Near insulin­induced gene 2 (INSIG2); melanocortin 4 receptor; adrenoceptor ß2; apolipoprotein A5; and G­protein subunit ß3. The present study investigated the association between a global DNA methylation index (GDMI), the allelic composition of the five energy balance and lipid metabolism­associated loci, and weight loss during a 12 month program, after controlling for age, sex and body mass index (BMI). The results demonstrated a significant association between the GDMI and near INSIG2 locus, after adjusting for BMI and weight loss, and significant trends were observed when stratifying by gender. In conclusion, a combination of genetic and epigenetic biomarkers may be used to design personalized weight loss interventions, enabling adherence and ensuring improved outcomes for obesity treatment programs. Precision weight loss programs designed based on molecular information may enable the creation of personalized interventions for patients, that use genomic biomarkers for treatment design and for treatment adherence monitoring, thus improving response to treatment.

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.

Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study.

INTRODUCTION: Identification of patients at risk of hereditary cancer is an essential component of oncology practice, since it enables clinicians to offer early detection and prevention programs. However, the large number of hereditary syndromes makes it difficult to take them all into account in daily practice. Consequently, the National Cancer Institute (NCI) has suggested a series of criteria to guide initial suspicion. OBJECTIVE: It was the aim of this study to assess the perception of the risk of hereditary cancer according to the NCI criteria in our medical oncology service. METHODS: We retrospectively analyzed the recordings of the family history in new cancer patients seen in our medical oncology service from January to November 2009, only 1 year before the implementation of our multidisciplinary hereditary cancer program. RESULTS: The family history was recorded in only 175/621 (28%) patients. A total of 119 (19%) patients met 1 or more NCI criteria (1 criterion, n = 91; 2 criteria, n = 23; 3 criteria, n = 4; and 4 criteria, n = 1), and only 14 (11.4%) patients were referred to genetic counseling. CONCLUSION: This study shows that few clinicians record the family history. The perception of the risk of hereditary cancer is low according to the NCI criteria in our medical oncology service. These findings can be explained by the lack of a multidisciplinary hereditary cancer program when the study was performed.

Recomendaciones para el estudio genético de la pareja con alteraciones en la reproducción / Recommendations for the genetic study of couples with impaired reproduction

Siempre se debe garantizar un asesoramiento genético apropiado a la pareja, tanto antes como después del estudio genético. Las pruebas genéticas se han clasificado como pruebas altamente recomendables, recomendables u opcionales, según su resultado modifique el pronóstico. La indicación de las pruebas genéticas en la mujer con alteraciones en la reproducción se ha clasificado sobre la base de la historia clínica personal y familiar y puede abarcar el cariotipo en sangre periférica, el estudio molecular del gen CFTR (cystic fibrosis transmembrane conductance regulator), de X frágil, del factor II, del factor V y de metilentetrahidrofolatoreductasa (MTHFR). Respecto a los varones con alteraciones en la reproducción, cualquier estudio genético debe ir precedido por un estudio andrológico, que debe incluir al menos una historia clínica personal, familiar y el análisis de semen. Se puede indicar el cariotipo en sangre periférica, el estudio molecular de CFTR, las microdeleciones en el cromosoma Y, la hibridación fluorescente in situ (FISH, por sus siglas en inglés) en espermatozoides, el estudio de meiosis en tejido testicular y la fragmentación del ADN (AU)

In order to improve the care and follow up of couples with impaired reproduction, several scientific societies and experts have established specific recommendations for genetic testing in the evaluation of reproductive disorders in couples with impaired reproduction. Appropriate genetic counselling must be given to the couple before and after the genetic testing. Genetic tests have been classified as “highly recommended,” “recommended” or “optional” depending on whether the results have changed the prognosis of the corresponding pathology. The indication for genetic testing in women with impaired reproduction is classified on the basis of personal and family medical history and can include the karyotype in peripheral blood, the molecular study of CFTR, Fragile X, factor II, factor V and MTHRF. As regards men with impaired reproduction, every genetic study should be preceded by an andrological study, which must include at least the personal and family history and a semen analysis. A medical indication can be made for the karyotype in peripheral blood, the molecular study of CFTR, microdeletions on the Y chromosome, FISH sperm FISH, meiosis in testicular tissue studies, and DNA fragmentation (AU)