Results 41 to 50 of about 6,072,229 (217)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Precocious puberty – Are children maturing more rapidly? [PDF]

, 2023
Sumnja na preuranjeni pubertet čest je uzrok zabrinutosti roditelja i razlog pregleda u pedijatrijskim ambulantama. Stoga je potrebno znati razlikovati fiziološki pubertetski razvoj, benigne varijante puberteta i preuranjeni pubertet.
Krnić, Nevena
core   +1 more source

Developmental differences in cortical bone structure in chimpanzee and human femora reflect early locomotor independence in humans

The Anatomical Record, EarlyView.
Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan, Rachel Ives, Zewdi J. Tsegai, Louise T. Humphrey   +3 more
wiley   +1 more source

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with ...
Ji Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu   +4 more
doaj   +1 more source

A White Paper on Advancing Long‐Acting Therapeutics for Maternal and Pediatric Health by Bridging Gaps in Clinical Research, Access and Regulation

Clinical Pharmacology &Therapeutics, EarlyView.
As use cases for long‐acting therapeutics expand across clinical indications, there is a critical need to ensure the inclusion of women who are pregnant or breastfeeding, infants and children—populations with a historical gap in the availability of interventions already approved for use in adults.
Moherndran Archary, Robert Bies, Osei Boateng, Rachel Daley, Pierre Gashema, Mili Karina, Emily Njuguna, Sharon Nachman, Nathaniel Nkrumah, Carolyne Odula, Andrew Owen, Ethel D. Weld, Prajith Venkatasubramanian, Adeniyi Olagunju, on behalf of the Community of Practice for Long‐acting Therapeutics for Maternal and Paediatric Health, Rana Abutaima, Dorothy Akongo, Abdulnaser Alsharaa, Moherndran Archary, Shakir Atoyebi, Benoit Bestgen, Robert Bies, Osei Boateng, Andrew Butler, Edmund Capparelli, Rachel Daley, Layla Davies, Joelle Dountio, Henry Enzama, Pierre Gashema, Katila George, Dan Hawcutt, Rene Holm, Patrick Gad Iradukunda, Elodie Jambert, Mili Karina, Linda Lewis, Grace Miheso, Sebastien Morin, Andrew Morrison, Sharon Nachman, Shadia Nakalema, Emily Njunga, Nathaniel Nkrumah, Carolyne Odula‐Obonyo, Brenda Okware, Adeniyi Olagunju, Andrew Owen, Martina Penazzato, Natella Rakhmanina, Mphako Brighton Ratlabyana, Rachel Scott, Kimberly Struble, Andre‐Marie Tchouatieu, Catherine Unsworth, Prajith Venkatasubramanian, Catriona Waitt, Ethel Weld, Janine Winterbottom, Leena Zino   +59 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

A Testicular Leydig Cell Tumor; An Uncommon Cause of Precocious Puberty: A Case Report With Secondary Central Precocious Puberty

Acta Medica Iranica, 2023
Sexual precocity in boys is defined as any sign of secondary sexual characteristics present before the age of 9. Leydig cell tumors of the testes are a rare cause of peripheral precocious puberty in boys.
Seyede Tahereh Mousavi, Farshad Zohrabi, Mohammadreza Farzaneh   +2 more
doaj  

Dose‐Dependent Efficacy of Radioiodine Therapy in Pediatric Graves’ Disease: A Retrospective Study of Hypothyroidism Risk and the Predictive Role of Thyroid Hormone Parameters

iRADIOLOGY, EarlyView.
RAI therapy demonstrated time‐dependent efficacy in pediatric Graves' disease, with gradually increasing treatment success and hypothyroidism incidence during follow‐up. Higher planned activity (≥ 0.15 mCi/g) was associated with a higher successful rate than lower planned activity (< 0.15 mCi/g), and LASSO analysis identified FT3 and TSH as candidate ...
Xiaoxue Tian, Dan Zhang, Yihui Wang, Lujie Cao, Junpu Jian, Jiangyan Liu, Changping Liang, Yinzhong Wang, Yonghui Chen   +8 more
wiley   +1 more source

A review of the genetics and epigenetics of central precocious puberty

Frontiers in Endocrinology, 2022
Gonadotrophin dependent sexual precocity, commonly referred to as central precocious puberty (CPP), results from a premature reactivation of the hypothalamic-pituitary-gonadal (HPG) axis before the normal age of pubertal onset. CPP is historically described as girls who enter puberty before the age of eight, and boys before the age of nine. Females are
Joshua Moise-Silverman, Lawrence A. Silverman   +1 more
openaire   +3 more sources

Abdominal imaging in precocious puberty in girls [PDF]

Precocious puberty in girls is defined by the appearance of secondary sex characteristics before the age of 8 years. Precocious puberty is either peripheral or central. In most cases, the cause of central precocious puberty is unknown.
Sofia, Carmelo, Napolitano, Marcello, Ključevšek, Damjana, Bruno, Costanza, Smets, Anne M., Lobo, Maria-Luisa   +5 more
core   +2 more sources