Abstract Search

ey0018.1-15 | Clinical/Translational | ESPEYB18

1.15. Clinical outcomes and complications of pituitary blastoma

APY Liu , MM Kelsey , N Sabbaghian , SH Park , CL Deal , AJ Esbenshade , O Ploner , A Peet , H Traunecker , YHE Ahmed , M Zacharin , A Tiulpakov , AM Lapshina , AW Walter , P Dutta , A Rai , M Korbonits , L de Kock , KE Nichols , WD Foulkes , JR Priest

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

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ey0015.5-4 | New genes and gene mutations | ESPEYB15

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

T Cundy , M Dray , J Delahunt , JD Hald , B Langdahl , C Li , M Szybowska , S Mohammed , EL Duncan , AM McInerney-Leo , PG Wheeler , P Roschger , K Klaushofer , J Rai , M Weis , D Eyre , U Schwarze , PH Byers

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

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ey0020.11-5 | Diabetes | ESPEYB20

11.5. Global incidence, prevalence, and mortality of type 1 diabetes in 2021 with projection to 2040: a modelling study

GA Gregory , TIG Robinson , SE Linklater , F Wang , S Colagiuri , C de Beaufort , KC Donaghue , , International Diabetes Federation Diabetes Atlas Type 1 Diabetes in Adults Special Interest Group, , DJ Magliano , J Maniam , TJ Orchard , P Rai , GD Ogle

Brief summary: The authors developed a model to estimate the worldwide prevalence of Type 1 diabetes (T1D) in 2040. Compared to 2021, when an estimated 8.4 million individuals had T1D (including 18% < 20 years), the prevalent cases are expected to increase to 13.517.4 million in 2040, with the largest relative increase taking place in low- and middle-income countries.This model, using published data (available from only 97 countries worldwide) ...

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ey0016.3-5 | Thyroid and Pregnancy | ESPEYB16

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

RK Dhillon-Smith , LJ Middleton , KK Sunner , V Cheed , K Baker , S Farrell-Carver , R Bender-Atik , R Agrawal , K Bhatia , E Edi-Osagie , T Ghobara , P Gupta , D Jurkovic , Y Khalaf , M MacLean , C McCabe , K Mulbagal , N Nunes , C Overton , S Quenby , R Rai , N Raine-Fenning , L Robinson , J Ross , A Sizer , R Small , A Tan , M Underwood , MD Kilby , K Boelaert , J Daniels , S Thangaratinam , SY Chan , A Coomarasamy

To read the full abstract: N Engl J Med. 2019;380:13161325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

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ESPE Yearbook of Paediatric Endocrinology

1.15. Clinical outcomes and complications of pituitary blastoma

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

11.5. Global incidence, prevalence, and mortality of type 1 diabetes in 2021 with projection to 2040: a modelling study

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

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