Results 41 to 50 of about 738,525 (387)

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Heterogeneous circulating miRNA profiles of PBMAH

Frontiers in Endocrinology, 2022
ObjectivePrimary bilateral macronodular adrenal hyperplasia (PBMAH), a rare cause of Cushing syndrome, is often diagnosed as a bilateral adrenal incidentaloma with subclinical cortisol production.
Kazunari Hara, Masanori Murakami, Yoshihiro Niitsu, Akira Takeuchi, Masato Horino, Kumiko Shiba, Kumiko Shiba, Kazutaka Tsujimoto, Chikara Komiya, Kenji Ikeda, Mika Tsuiki, Akiyo Tanabe, Toshihiro Tanaka, Toshihiro Tanaka, Minato Yokoyama, Yasuhisa Fujii, Mitsuhide Naruse, Mitsuhide Naruse, Tetsuya Yamada   +18 more
doaj   +1 more source

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY COMPREHENSIVE CLINICAL PRACTICE GUIDELINES FOR MEDICAL CARE OF PATIENTS WITH OBESITY.

Endocrine Practice, 2016
OBJECTIVE Development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and the American College of Endocrinology (ACE) Board of Trustees and adheres to published AACE protocols for the ...
W. Garvey, J. Mechanick, Elise M. Brett, A. Garber, D. Hurley, Ania M. Jastreboff, Karl Z Nadolsky, Rachel Pessah-Pollack, Raymond A. Plodkowski   +8 more
semanticscholar   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +2 more sources

Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline in collaboration with the European Network for the Study of Adrenal Tumors.

European Journal of Endocrinology, 2016
: By definition, an adrenal incidentaloma is an asymptomatic adrenal mass detected on imaging not performed for suspected adrenal disease. In most cases, adrenal incidentalomas are nonfunctioning adrenocortical adenomas, but may also represent conditions
M. Fassnacht, W. Arlt, I. Bancos, H. Dralle, J. Newell-Price, A. Sahdev, A. Tabarin, M. Terzolo, S. Tsagarakis, O. Dekkers   +9 more
semanticscholar   +1 more source

The endocrinology of the brain [PDF]

Endocrine Connections, 2018
The brain hosts a vast and diverse repertoire of neuropeptides, a class of signalling molecules often described as neurotransmitters. Here I argue that this description entails a catalogue of misperceptions, misperceptions that feed into a narrative in which information processing in the brain can be understood only through mapping neuronal ...
openaire   +3 more sources

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE.

Endocrine Practice, 2017
OBJECTIVE The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the ...
P. Jellinger, Y. Handelsman, P. Rosenblit, Z. Bloomgarden, V. Fonseca, A. Garber, G. Grunberger, Chris K Guerin, D. S. Bell, J. Mechanick, Rachel Pessah-Pollack, K. Wyne, Donald A. Smith, E. Brinton, S. Fazio, Michael B Davidson   +15 more
semanticscholar   +1 more source

Endocrinology and the brain: Corticotropin-Releasing Hormone signaling [PDF]

, 2017
Corticotropin-releasing hormone (CRH) is a key player of basal and stress activated responses in the hypothalamic-pituitary-adrenal axis (HPA) and in extrahypothalamic circuits, where it functions as a neuromodulator to orchestrate humoral and behavioral
Armando, Natalia Giannina, Dos Santos Claro, Paula Ayelen, Inda, María Carolina, Silberstein Cuña, Susana Iris   +3 more
core   +2 more sources

European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas.

European Journal of Endocrinology, 2018
BACKGROUND Pituitary tumours are common and easily treated by surgery or medical treatment in most cases. However, a small subset of pituitary tumours does not respond to standard medical treatment and presents with multiple local recurrences (aggressive
G. Raverot, P. Burman, A. McCormack, A. Heaney, S. Petersenn, V. Popović, J. Trouillas, O. Dekkers   +7 more
semanticscholar   +1 more source