Page 65 - CIBERER2016-ENG

Most relevant scientific articles
• Hornig N.C., Ukat M., Schweikert H.U., Hiort O., Werner R., Drop S.L.S. et al. Identification of an AR mutation-negative class of androgen insensitivity by determining endogenous AR activity. Journal of Clinical Endocrinology and Metabolism. 2016;101(11):4468-4477.
• Hornig N.C., De Beaufort C., Denzer F., Cools M., Wabitsch M., Ukat M. et al. A recurrent germline mutation in the 5’UTR of the androgen receptor causes complete androgen insensitivity by activating aberrant uORF translation. PLoS ONE. 2016;11(4):-.
• Espiau M., Yeste D., Noguera-Julian A., Gonzalez-Tome M.I., Falcon-Neyra L., Gavilan C. et al. Metabolic Syndrome in Children and Adolescents Living with HIV. Pediatric Infectious Disease Journal. 2016;:-.
• Espiau M., Yeste D., Noguera-Julian A., Soler-Palacin P., Fortunyc C., Ferrer R. et al. Adiponectin, Leptin and Inflammatory Markers in HIV-Associated Metabolic Syndrome in Children and Adolescents. Pediatric Infectious Disease Journal. 2016;:-.
• Tiosano D., Audi L., Climer S., Zhang W., Templeton A.R., Fernandez-Cancio M. et al. Latitudinal clines of the human vitamin D receptor and skin color genes. G3: Genes, Genomes, Genetics. 2016;6(5):1251-1266.
Hightlights
We continue our activity related to the translational care, diagnostic and specialised consultations
in rare diseases (RDs) in Paediatric Endocrinology: growth, disorders of sex development, thyroid dyshormonogenesis, hiperinsulinism, familial glucocorticoid deficiency, raquitism and SHOX.
We also continue our collaboration with Scientific Societies (SEEP, SEEN, SEQC and ESPE) by elaborating protocols, guides for biochemical, clinical and genetic diagnosis and databases [I-DSD, COST BM1303 Project and European Reference Network for Rare Endocrine Conditions (Endo-ERN)]. We are Reference Center of the Programme for early-detection of congenital hypothyroidism in Catalonia. L. Audí is a member of the Scientific Committee of Orphanet.
We exclusively dedicate to CIBERER thanks to our diagnosis, treatment and applied Research in RDs related to Paediatric Endocrinology. Diagnosis and treatment is done in our Consultation in Hospital Vall d’Hebron (Barcelona, Spain).
Throughout 2016, thanks to the use of next-generation sequencing techniques, we were able to molecularly diagnose paediatric patients with endocrinological and pneumological disorders, which had been undiagnosed for a long time.
Besides, this year we ended our longitudinal growth study in a non-obese healthy population (743 women and 710 men, more than 25000 measurements) from Barcelona, Spain. These novel data should allow a correct evaluation of growth and obesity during infancy and adolescence. We also started to design apps, a webpage and an auxological programme.
In 2016, we have consolidated Clinical and Research collaborations with other Paediatric Groups of our Hospital, which are also working in RDs (Paediatric Pneumology, Neurology, Metabolic Diseases, Genetics, Inmunodeficiences and Neonatology). Also, our Research Group has expanded with the inclusion of Paediatric Pneumology and Neonatology Groups and is now called Growth and Development Group
(Vall d’Hebron Research Institute, VHIR). Dr. Antonio Moreno is now co-director together with Dr. Antonio Carrascosa.
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