Alertas Bibliograficas – Pediatría

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, et al.
J Med Genet. 2018 May 18. pii: jmedgenet-2017-105118.
http://doi.org/10.1136/jmedgenet-2017-105118

Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.
Çizmecioğlu FM, Jones JH, Paterson WF, Kherra S, Kourime M, McGowan R, et al.
J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):264-273.
http://doi.org/10.4274/jcrpe.0029

Growth hormone – past, present and future.
Ranke MB, Wit JM.
Nat Rev Endocrinol. 2018 May;14(5):285-300
http://doi.org/10.1038/nrendo.2018.22

The current state of long-acting growth hormone preparations for growth hormone therapy.
Yuen KCJ, Miller BS, Biller BMK.
Curr Opin Endocrinol Diabetes Obes. 2018 Aug;25(4):267-273.
http://doi.org/10.1097/MED.0000000000000416

Pediatric prolactinoma: initial presentation, treatment, and long-term prognosis.
Hoffmann A, Adelmann S, Lohle K, Claviez A, Müller HL.
Eur J Pediatr. 2018 Jan;177(1):125-132.
http://doi.org/10.1007/s00431-017-3042-5
Epub 2017 Nov 22.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P et al.
Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829.
http://doi.org/10.1111/cen.13581
Epub 2018 Mar 24.

New developments in the genetic diagnosis of short stature.
Jee YH, Baron J, Nilsson O.
Curr Opin Pediatr. 2018 May 18.
http://doi.org/10.1097/MOP.0000000000000653
[Epub ahead of print]

Growth Outcomes After GH Therapy of Patients Given Long-Term Corticosteroids for Juvenile Idiopathic Arthritis.
David H, Aupiais C, Louveau B, Quartier P, Jacqz-Aigrain E, Carel JC, Simon D.
J Clin Endocrinol Metab. 2017 Dec 1;102(12):4578-4587.
doi: http://doi.org/10.1210/jc.2017-01455

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J et al.
J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614.
doi: http://doi.org/10.1210/jc.2017-02026