Zobrazeno 1 - 10
of 429
pro vyhledávání: '"Marek, Niedziela"'
Publikováno v:
Pediatria Polska, Vol 99, Iss 1, Pp 84-88 (2024)
Autoimmune polyglandular syndrome type 2 (APS-2) is the coexistence of Addison disease and at least one of the disorders like autoimmune thyroid diseases and/or type 1 diabetes mellitus. We discuss the case of 16.5-year-old girl who had been diagnose
Externí odkaz:
https://doaj.org/article/0e5fbcd210264d719fa7da25e902552d
Autor:
Patrycja Sosnowska-Sienkiewicz, Dajana Danielewicz, Danuta Januszkiewicz-Lewandowska, Paulina Rusak, Iwona Anderko, Maciej Rzepecki, Marek Niedziela, Jerzy Harasymczuk, Przemysław Mańkowski
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
IntroductionAlthough thyroid abnormalities are observed less frequently in children than in adults, the increased incidence of thyroid cancer makes it mandatory for all pediatric surgeons to be knowledgeable about the disorders of this gland. Thyroid
Externí odkaz:
https://doaj.org/article/58dfb1829c4d47fab5202e8dbb814473
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 312-317 (2023)
Mutations in the INSR gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue syndrome), Rabson-Mendenhall syndrome and insulin resistance type A. Leprechaunism is an autosomal recessive disorder associated
Externí odkaz:
https://doaj.org/article/a7aaa1f03bc941f2958702fad181a380
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults. The aim of this study was to determine the ultrasound (US) chara
Externí odkaz:
https://doaj.org/article/e015ed03a0934b288f7e57c229068ef4
Autor:
Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinase
Externí odkaz:
https://doaj.org/article/5ce6f21eef864344a103eb137674f7c1
Autor:
Marek Niedziela
Publikováno v:
Endocrine Connections, Vol 10, Iss 11, Pp R279-R292 (2021)
The term 'hyperthyroidism' refers to a form of thyrotoxicosis due to inappropriate high synthesis and secretion of thyroid hormone(s) by the thyroid. The leading cause of hyperthyroidism in adolescents is Graves’ disease (GD); however, one should a
Externí odkaz:
https://doaj.org/article/4bdb87704e774c81875022aeac38e7dd
Autor:
Monika Obara-Moszynska, Lukasz Dzialach, Barbara Rabska-Pietrzak, Marek Niedziela, Karina Kapczuk
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveMost girls and women with Turner syndrome (TS) require estrogen replacement therapy (ERT) to initiate or maintain pubertal development. Most likely, the most fundamental effect of ERT in hypogonadism is the promotion of uterine growth. The o
Externí odkaz:
https://doaj.org/article/e7403c0b4f6e4cc1830ae53c2c1eebc5
Autor:
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela
Publikováno v:
Endocrine Connections, Vol 7, Iss 12, Pp 1480-1490 (2018)
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are les
Externí odkaz:
https://doaj.org/article/a2b0a90641dc40f28f5f000b15f6e50f
Autor:
Ewelina Szczepanek-Parulska, Bartłomiej Budny, Martyna Borowczyk, Igor Zhukov, Kosma Szutkowski, Katarzyna Zawadzka, Raiha Tahir, Andrzej Minczykowski, Marek Niedziela, Marek Ruchała
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 6, p 3414 (2022)
Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None of the family members pr
Externí odkaz:
https://doaj.org/article/0181dc0f7607407d97f37b067675032c