ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 8 of about 217 results

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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ey0018.2-12 | Neonatal diabetes mellitus | ESPEYB18

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

I Akerman , MA Maestro , E De Franco , V Grau , S Flanagan , J Garcia-Hurtado , G Mittler , P Ravassard , L Piemonti , S Ellard , AT Hattersley , J Ferrer

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...
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ey0018.3-5 | Drug induced thyroid disease | ESPEYB18

3.5. Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade

Z Khan , C Hammer , J Carroll , F Di Nucci , SL Acosta , V Maiya , T Bhangale , J Hunkapiller , I Mellman , ML Albert , MI McCarthy , GS Chandler

Nat Commun. 2021 Jun 7;12(1):3355. doi: 10.1038/s41467-021-23661-4.This study describes the interaction of individual genetic variation for autoimmune thyroid disease with risk of thyroid immune related adverse events (irAE) during or after immune checkpoint inhibitor (ICI) treatment for advanced cancer.ICIs are monoclonal antibodies blocking T-cell exhaustion and...
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ey0018.5-13 | Advances in skeletal biology | ESPEYB18

5.13. SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation

A Haseeb , KC Ranjan , M Angelozzij , C de Charleroy , D Rux , RJ Tower , L Yao , R Pellegrino da Silva , M Pacifici , L Qin , V Lefebvre

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...
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ey0018.12-14 | Lipids | ESPEYB18

12.14. Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a mendelian randomization analysis using outcomes in first-degree relatives

Richardson Tom G , Wang Qin , Sanderson Eleanor , Mahajan Anubha , McCarthy Mark I , Frayling Timothy M , Ala-Korpela Mika , Sniderman Allan , Smith George Davey , Holmes Michael V

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...
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ey0018.13-7 | Endocrinology | ESPEYB18

13.7. We all have a role to play: redressing inequities for children living with CAH and other chronic health conditions of childhood in resource-poor settings

K Armstrong , AB Yap , S Chan-Cua , ME Craig , C Cole , V Chi Dung , J Hansen , M Ibrahim , H Nadeem , A Pulungan , J Raza , A Utari , P. Ward

Int. J. Neonatal Screen 2020; 6: 76. doi: 10.3390/ijns6040076– CLAN (Caring and Living as Neighbours) is an Australian non-governmental organisation (NGO) committed to a rights-based approach to optimizing quality of life for children and young people living with CAH and other chronic health conditions in resource-limited settings– This paper used exploratory case study as a method t...
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ey0018.15-3 | (1) | ESPEYB18

15.3. Metabolic effects of late dinner in healthy volunteers - a randomized crossover clinical trial

Gu Chenjuan , Brereton Nga , Schweitzer Amy , Cotter Matthew , Duan Daisy , Borsheim Elisabet , Wolfe Robert R , Pham Luu V , Polotsky Vsevolod Y , Jun Jonathan C

Journal of Clinical Endocrinology & Metabolism, 2020. Vol 105(8), 2789–2802. doi: https://doi.org/10.1210/clinem/dgaa354The authors performed a randomized crossover trial of Late Dinner (22:00 hours) vs Routine Dinner (18:00) in a laboratory setting in 20 healthy adult volunteers. Meal contents and sleep period (23:00-07:00) were kept the same in both arms and sleep patterns were u...
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ey0019.7-13 | Basic Science | ESPEYB19

7.13. Multi- and transgenerational outcomes of an exposure to a mixture of endocrine-disrupting chemicals (EDCs) on puberty and maternal behavior in the female rat

D Lopez-Rodriguez , CF Aylwin , V Delli , E Sevrin , M Campanile , M Martin , D Franssen , A Gerard , S Blacher , E Tirelli , A Noel , A Lomniczi , AS Parent

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...
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ey0019.8-2 | New Mechanisms | ESPEYB19

8.2. Corticosterone induces discrete epigenetic signatures in the dorsal and ventral hippocampus that depend upon sex and genotype: focus on methylated NR3C1 gene

SG Caradonna , NR Einhorn , V Saudagar , H Khalil , GH Petty , A Lihagen , C LeFloch , FS Lee , H Akil , A Guidotti , BS McEwen , E Gatta , J Marrocco

Transl Psychiatry. 2022; 12(1): 109. PMID: 35296634 https://pubmed.ncbi.nlm.nih.gov/35296634/Brief Summary: This mouse study identified sex and genotype-dependent effects of oral corticosterone on behavioral and physiological outcomes as well as on gene expression and epigenetics in hippocampal subregions.Glucocorticoids exert their effects by binding to glucocorticoid...
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ey0019.9-13 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.13. Serum anti-Mullerian hormone as a marker of ovarian reserve after cancer treatment and/or hematopoietic stem cell transplantation in childhood: proposal for a systematic approach to gonadal assessment

S Molinari , F Parissone , V Evasi , Lorenzo P De , MG Valsecchi , S Cesaro , D Fraschini , R Sangalli , G Cacace , A Biondi , A Balduzzi , A Cattoni

s.molinari3@campus.unimib.it Eur J Endocrinol. 2021; 185: 717-728. PMID: 34519276.Brief Summary: This retrospective study, involving two Italian centers, enrolled post-pubertal female patients who had been treated with gonadotoxic therapies for hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) before the age of 18 years. Several studies have r...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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