ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 13 of about 296 results

ey0018.1-2 | Development/Ontogeny | ESPEYB18

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

F Ruf-Zamojski , Z Zhang , M Zamojski , GR Smith , N Mendelev , H Liu , G Nudelman , M Moriwaki , H Pincas , RG Castanon , VD Nair , N Seenarine , MAS Amper , X Zhou , L Ongaro , C Toufaily , G Schang , JR Nery , A Bartlett , A Aldridge , N Jain , GV Childs , OG Troyanskaya , JR Ecker , JL Turgeon , CK Welt , DJ Bernard , SC Sealfon

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...
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ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...
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ey0020.5-8 | Clinical Guidance and Studies | ESPEYB20

5.8. GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano , V Leysen , M Adamo , I Paiva , R Rovera , JM Pignat , FE Timzoura , M Candlish , S Eddarkaoui , SA Malone , MSB Silva , S Trova , M Imbernon , L Decoster , L Cotellessa , M Tena-Sempere , M Claret , A Paoloni-Giacobino , D Plassard , E Paccou , N Vionnet , J Acierno , AM Maceski , A Lutti , F Pfrieger , S Rasika , F Santoni , U Boehm , P Ciofi , L Buee , N Haddjeri , AL Boutillier , J Kuhle , A Messina , B Draganski , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...
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ey0018.1-11 | Genetics | ESPEYB18

1.11. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

O David , M Eskin-Schwartz , G Ling , V Dolgin , E Kristal , E Benkowitz , L Osyntsov , L Gradstein , OS Birk , N Loewenthal , B Yerushalmi

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...
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ey0018.2-6 | Neonatal hypoglycaemia | ESPEYB18

2.6. Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes.

S Tornovsky-Babeay , N Weinberg-Corem , R Ben-Haroush Schyr , D Avrahami , J Lavi , E Feleke , KH Kaestner , Y Dor , B Glaser

Diabetologia. 2021 May;64(5):1133-1143. doi: 10.1007/s00125-021-05390-x. PMID: 33558985.In order to gain some insight into the potential mechanism/s of diminished beta cell function over time, this mouse model of CHI was developed with an activating GCK (Glucokinase) mutation. In the short term, the mice developed mild fasting hypoglycaemia (this was very mild with fasting blood glucose...
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ey0018.3-3 | Thyroid development | ESPEYB18

3.3. Generation and differentiation of adult tissue-derived human thyroid organoids

VML Ogundipe , AH Groen , N Hosper , PWK Nagle , J Hess , H Faber , AL Jellema , M Baanstra , TP Links , K Unger , JTM Plukker , RP Coppes

Stem Cell Reports. 2021;16:913–925. doi: 10.1016/j.stemcr.2021.02.011.In analogy to historical data [1], the authors provide important proof of principle that adult thyroid tissues cultivated in vitro show self-renewal and differentiation capacities and might ultimately be of use for regenerative autologous transplantation back into the donor patient affected by hypothyr...
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ey0018.9-2 | Cancer treatment and the risk of second neoplasia | ESPEYB18

9.2. Influence of growth hormone therapy on the occurrence of a second neoplasm in survivors of childhood cancer

C Thomas-Teinturier , I Oliver-Petit , H Pacquement , B Fresneau , RS Allodji , C Veres , S Bolle , D Berchery , CHaddy N Demoor-Goldschmidt , I Diallo , F. cecile.teinturier@aphp.fr de Vathaire

Eur J Endocrinol. 2020; 183: 471–480. https://pubmed.ncbi.nlm.nih.gov/32738133/This cohort and nested case–control study analyzed the impact of growth hormone (GH) treatment on the risk of second neoplasm (SN) in a French cohort of 2852 childhood cancer survivors (CCS) treated before 1986. In total, 126 (64.3%) survivors who received GH had been treated for a brain tumor, 22 (11.2...
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ey0018.11-12 | Criticism of the previous BMI metrics for use in severely obese children | ESPEYB18

11.12. A longitudinal comparison of alternatives to body mass index Z-Scores for children with very high body mass indexes

DS Freedman , AJ Goodwin Davies , L Kompaniyets , SJ Lange , AB Goodman , T Tam Phan , FS Cole , A Dempsey , N Pajor , I Eneli , DA Christakis , CB Forrest

J Pediatr. 2021 Mar 5;S0022-3476(21)00211-0. https://pubmed.ncbi.nlm.nih.gov/33676932/The authors analysed BMI data from 10.8 million children and adolescents from the PEDSnet database (USA), collected longitudinally between 1999-2019, to examine the tracking of various BMI metrics (BMIz, BMImz, BMIz extended, %BMIp95, %BMIp50,%BMIp50 adjusted| calculated according to CDC growth char...
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ey0018.15-7 | (1) | ESPEYB18

15.7. A placebo-controlled trial of subcutaneous semaglutide in nonalcoholic steatohepatitis

Newsome Philip N , Buchholtz Kristine , Cusi Kenneth , Linder Martin , Okanoue Takeshi , Ratziu Vlad , Sanyal Arun J , Sejling Anne-Sophie , Harrison Stephen A

N Engl J Med 2021; 384:1113–1124. DOI: 10.1056/NEJMoa2028395 https://www.nejm.org/doi/full/10.1056/NEJMoa2028395The authors report a 72-week, double-blind placebo-controlled trial in 320 adult patients with biopsy-confirmed nonalcoholic steatohepatitis (NASH) and liver fibrosis (stage F1, F2, or F3). Patients were randomly assig...
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ey0019.2-21 | Fetal and Neonatal Cortisol and Growth Hormone Physiology | ESPEYB19

2.21. Preterm birth and infant diurnal cortisol regulation

DQ Stoye , JP Boardman , C Osmond , G Sullivan , G Lamb , GS Black , NZ Homer , N Nelson , E Theodorsson , RM Reynolds , E Morelius

Arch Dis Child Fetal Neonatal Ed. 2022 Mar 14:fetalneonatal-2021-323296. doi: 10.1136/archdischild-2021-323296. Epub ahead of print. PMID: 35288450.Brief Summary: This study tested the hypothesis that the diurnal cortisol area under the curve (mean daily level) and diurnal cortisol slope (decline across the day) differ between infants born preterm and those born at term. Extremely pr...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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