Results 191 to 200 of about 9,788,907 (408)

Review of the risks and/or benefits of thyroxine treatment in ‘mild’ subclinical hypothyroidism [PDF]

open access: yes, 2013
Subclinical hypothyroidism (SCH) is a form of mild thyroid failure and is a commonly encountered condition in clinical practice. It denotes the presence of a raised serum thyroid stimulating hormone (TSH) and normal serum free thyroid hormone ...
Agius, Rachel
core  

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio   +13 more
wiley   +1 more source

Hyperthyroidism in cats, part II : scintigraphic diagnosis and radioiodine treatment [PDF]

open access: yes, 2016
In the second part of this review article, the diagnostic aspects of thyroid scintigraphy are discussed, with major emphasis on hyperthyroidism, followed by an overview of radioiodine ...
Daminet, Sylvie   +4 more
core   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone   +11 more
wiley   +1 more source

Practical Aspect of Thyroid Disease

open access: bronze, 1949
NULL AUTHOR_ID
openalex   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey   +6 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Evaluating the diagnostic efficiency of ultrasound and serum autoantibodies in Hashimoto’s thyroiditis: a cross-sectional study

open access: yesScientific Reports
Hashimoto’s thyroiditis is the most common endocrine disorder, with diagnosis primarily relying on serum thyroid autoantibodies and ultrasound feature.
Hai-Long Tan   +5 more
doaj   +1 more source

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