Results 71 to 80 of about 90,318,030 (246)

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

ADHD and Thyroid Hormone Resistance

, 1993
The presence and severity of attention deficit-hyperactivity disorder (ADHD) in 104 members of 18 families with a history of generalized resistance to thyroid hormone were evaluated at the National Institutes of Health, Bethesda, MD, using structured ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +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

Homozygous Thyroid Hormone Receptor beta-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature

, 2012
Context: The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormonereceptor beta(THRB) gene mutations.
Ferrara, Alfonso Massimiliano, Onigata, Kazumichi, WEISS, Roy E, Ercan, Oya, MASSIMILIANO FERRARA, Alfonso, Weiss, Roy E., Woodhead, Helen, Refetoff, Samuel   +7 more
core   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Thyroid hormone resistance misdiagnosed as Graves' disease

CHRISMED Journal of Health and Research, 2017
Resistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait.
Manish Gutch, Annesh Bhattacharya, Sukriti Kumar, Syed Mohd Razi, Rao Somendra Singh, Rajendra Kumar Pahan   +5 more
doaj   +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

Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status

Archives of Endocrinology and Metabolism
Resistance to thyroid hormone (RTH) is a rare autosomal dominant hereditary disorder. Here in, we report two patients with RTH in whom differentiated thyroid cancer was diagnosed. Two patients were admitted to our clinic and their laboratory results were
Melia Karakose, Mustafa Caliskan, Muyesser Sayki Arslan, Erman Cakal, Ahmet Yesilyurt, Tuncay Delibasi   +5 more
doaj   +1 more source

Psychological well-being on thyroid hormone replacement [PDF]

Despite 100 years after the discovery of thyroxine, controversy still exists regarding optimal thyroid hormone replacement therapy. Several anecdotal reports suggest that thyroxine alone therapy does not normalise psychological wellbeing.
Saravanan, Ponnusamy
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