Results 41 to 50 of about 42,240 (230)

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

THYROID HORMONE RESISTANCE SYNDROME (THR)

Journal of the ASEAN Federation of Endocrine Societies, 2023
INTRODUCTION/BACKGROUNDThyroid hormone resistance syndrome (THR) is a rare condition caused by defects in either one of the two thyroid hormone receptors which leads to tissue unresponsiveness to circulating thyroid hormones. The presentations vary depending on which receptor is affected.
W Mohd Hilmi bin W. Omar, Jia Cheng Ong, Suhaimi Hussain   +2 more
openaire   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source

Sensitivity to thyroid hormones in Egyptian euthyroid patients with metabolic syndrome

The Egyptian Journal of Internal Medicine
Background Metabolic syndrome (MetS) is a common metabolic and endocrine disease, and many studies have found that thyroid disorders, both overt and subclinical, might be accompanied by the risk of MetS. Objectives Assessment of indices of sensitivity to
Heba Ibrahim Selim, Fayez Elkenawy Mohammad, Mohammed Ibrahim Abd El-Ghany   +2 more
doaj   +1 more source

Metal nanostructure‐coupled label‐free localized surface plasmon resonance biosensors for rapid and sensitive disease diagnosis

BMEMat, EarlyView.
LSPR biosensing enables rapid, sensitive, and low‐sample‐volume detection of biomarkers, with broad applications in diagnosing cancer, infectious, and chronic diseases. Advances in nanostructure design, micro/nanofabrication, and microfluidic integration have expanded the potential of LSPR sensors in biomedical diagnostics.
Zhaoxin Geng, Yunfei Sha, Jiongyan Yang, Hongru Yang, Xiao Liang   +4 more
wiley   +1 more source

Thyroid hormone resistance syndrome – own experiences

Pediatric Endocrinology Diabetes and Metabolism, 2017
Thyroid hormone resistance syndrome, also known as Refetoff syndrome, is a rare disease associated with decreased reaction of body tissues to thyroid hormones (TH). Patients with Refetoff syndrome tend to have elevated free TH concentrations and normal or inadequately elevated TSH (caused by thyrotropic cells in the pituitary gland insensitivity to TH).
Tomasz, Jackowski, Elżbieta, Petriczko, Anita, Horodnicka-Józwa, Mieczysław, Walczak   +3 more
openaire   +2 more sources

Maternal and Neonatal Complications Associated with Breast Cancer Systemic Treatments—A VigiBase Disproportionality Analysis Study

Clinical Pharmacology &Therapeutics, EarlyView.
Pregnancy‐associated breast cancer (PrBC) presents therapeutic challenges. Understanding maternal–fetal safety of systemic anticancer therapies is critical. We performed a case/non‐case disproportionality analysis using the WHO global pharmacovigilance database up to January 2024, to evaluate maternal–fetal outcomes associated with breast cancer (BC ...
Rayan Kabirian, Floriane Jochum, Elise Dumas, Florence Coussy, Kevin Bihan, Bénédicte Lebrun‐Vignes, Barbara Pistilli, Marc‐Antoine Benderra, Lise Selleret, Laurent Chouchana, Fabien Reyal, Anne‐Sophie Hamy, Paul Gougis   +12 more
wiley   +1 more source

Is There an Association between Thyroid Disease and Metabolic Syndrome [PDF]

Zagazig University Medical Journal
Background: The metabolic syndrome and thyroid dysfunctions are the two most prevalent endocrine illnesses, and they significantly overlap. Due to their strong associations with morbidity and mortality, both have a huge global influence on health care ...
Nermin Ghanem, Moanes Enaba, Hatem Salem, AHMED SAEID   +3 more
doaj   +1 more source