Search results for "Thyroid disorder"
showing 4 items of 4 documents
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional …
2016
International audience; BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and obser…
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
Breast cancer in previously thyroidectomized patients: which thyroid disorders are a risk factor?
2021
The aim of this study was to evaluate whether there are thyroid diseases in which breast cancer will appear later as well as the role of autoimmunity. This was a retrospective observational study. A total of 410 females (thyroid surgery and later breast cancer) and 524 females (thyroid surgery only) were compared with regard to pathological thyroid findings, thyroid hormones, thyroid autoimmunity and type of breast cancer. Thyroid autoimmunity, especially antithyroid peroxidase antibodies, significantly increased the risk of breast cancer (p < 0.01); however, this was not true for other thyroid diseases, including thyroid cancer. No variant of breast cancer was predominant, and only thyroid…
Bioassays for TSH Receptor Antibodies: Quo Vadis?
2015
Autoantibodies (Ab) to the TSH receptor (TSHR) are responsible for many of the clinical manifestations of Graves' disease (GD) and are specific biomarkers of this autoimmune thyroid disorder (AITD) [1,2,3]. These Ab can be measured either via competitive-binding immunoassays or with bioassays [4]. Antibody-binding assays only report the presence or absence of TSHR-Ab and their concentrations, but do not indicate their functional activity. Bioassays, in contrast, indicate whether TSHR-Ab have stimulatory or blocking activity [5]. Historically, bioassays for TSHR-Ab were research tools used to study the pathophysiology of GD. Recently, however, there are increasing data that demonstrate the c…