Results 41 to 50 of about 25,789 (227)

Precocious puberty in patients with Pompe disease

open access: yesFrontiers in Endocrinology, 2023
IntroductionThe life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is
Meng-Ju Melody Tsai   +6 more
doaj   +1 more source

Atypical chemokine receptor ACKR2 controls branching morphogenesis in the developing mammary gland [PDF]

open access: yes, 2016
Macrophages are important regulators of branching morphogenesis during development and postnatally in the mammary gland. Regulation of macrophage dynamics during these processes can therefore have a profound impact on development.
Cairney, Claire J.   +7 more
core   +1 more source

Evaluation of the true precocious puberty rats induced by neonatal administration of Danazol: Therapeutic effects of nourishing "Yin"- removing "Fire" Chinese herb mixture [PDF]

open access: yes, 2005
Background Nourishing "Yin"-Removing "Fire" Chinese Herb Mixture, a traditional herb-based formulation, has been successfully used for the management of idiopathic true precocious puberty (IPP) for more than thirty years.
Chen Boying   +4 more
core   +2 more sources

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

Gut microbiota-metabolite interactions meditate the effect of dietary patterns on precocious puberty

open access: yesiScience
Summary: Precocious puberty, a pediatric endocrine disorder classified as central precocious puberty (CPP) or peripheral precocious puberty (PPP), is influenced by diet, gut microbiota, and metabolites, but the specific mechanisms remain unclear.
Ying Wang   +15 more
doaj   +1 more source

Hepatoblastoma with precocious puberty

open access: yesJournal of Indian Association of Pediatric Surgeons, 2019
Hepatoblastoma (HB), a primary liver tumor of childhood, is often accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, the beta-human chorionic gonadotropin (β-hCG) levels may also be elevated, which can cause peripheral precocious puberty (PPP). We report a case of HB with precocious puberty wherein hormonal assays showed an increase in α-
Enono Yhoshu   +3 more
openaire   +3 more sources

Timing of maternal exposure and fetal sex determine the effects of low-level chemical mixture exposure on the fetal neuroendocrine system in sheep [PDF]

open access: yes, 2016
We have shown that continuous maternal exposure to the complex mixture of environmental chemicals (ECs) found in human biosolids (sewage sludge), disrupts mRNA expression of genes crucial for development and long-term regulation of hypothalamo-pituitary ...
Bellingham, M.   +7 more
core   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Guilt, Uncertainty, Education Needs, and Knowledge of Mothers With Children Experiencing Precocious Puberty

open access: yesGlobal Pediatric Health, 2022
Introduction. Childhood illnesses not only affect the child, but also the family members. Objective. The purpose of this study was to investigate the guilt, uncertainty, education needs, and knowledge of mothers with children experiencing precocious ...
Hye Young Ahn RN, PhD   +2 more
doaj   +1 more source

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong   +5 more
wiley   +1 more source

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