Publications by authors named "Wemeau J-L"
Article Synopsis
- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
EXPLORATION AND MANAGEMENT OF THYROID NODULES. Most thyroid nodules are benign (95%) and can benefit from clinical and ultrasound monitoring. Cancers (approximately 5% of nodules) could be suspected, particularly in subjects whose neck was irradiated, in cases of a hard, irregular, evolving nodule, or with very high serum calcitonin (> 100 pg/ml).
View Article and Find Full Text PDFBackground: The aim of this study was to evaluate the role of dual isotope Iodine/Tc-MIBI thyroid scintigraphy (IMS) in discriminating between malignant and benign lesions in indeterminate nodules using quantitative analysis methods.
Methods: Thirty-five consecutive patients with thyroid nodules of indeterminate or non-diagnostic cytology and cold on Iodine scintigraphy (10 Bethesda I, 24 Bethesda III-IV, 1 in which cytology was impossible) underwent IMS between 2017 and 2019 with uptake quantification at two time points ahead of thyroidectomy: early and late. Images were analyzed by two blinded physicians.
Article Synopsis
- - The study evaluated the safety of a reformulated levothyroxine sodium in France, prompted by a request for stricter potency specifications, after an increase in reported adverse events despite previous bioequivalence and purity assurance.
- - Data from safety reports were collected for both old and new formulations, showing a stark increase in total reports for the new formulation, but with most adverse events being non-serious and rates generally comparable between the two formulations.
- - The analysis concluded that the new formulation has a safety profile similar to the old one, indicating that the overall benefits of the new treatment still outweigh the risks associated with its use.
Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.
Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally.
Article Synopsis
- - APECED is a rare genetic condition caused by mutations in the AIRE gene, leading to issues like chronic mucocutaneous candidiasis (CMC), low parathyroid hormone levels, and poor adrenal function.
- - CMC can worsen into severe infections or cancers, with the exact link between chronic infections and oral squamous cell carcinoma still being researched.
- - Prolonged fluconazole treatment has caused fungal strains to become less responsive to treatment, and there's a connection between CMC and weakened immune responses, although the cause of decreased IL-17 and IL-22 levels is still debated.
Graves' disease is the most frequent cause of hyperthyroidism. Many questions remain about the choice of diagnostic evaluations and treatment strategy according to clinical context (age, gender, pregnancy, etc.) and about the best management of the main extrathyroidal complication that is Graves orbitopathy.
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- * Some large tumors with high calcitonin levels might not have LNI, suggesting that preoperative identification could help avoid unnecessary extensive surgeries for certain patients.
- * The study assessed various clinical and biological factors in 54 large MTC cases, finding that higher preoperative calcitonin levels, certain tumor characteristics, and increased expression of microRNAs (specifically miR-21) are strong predictors of LNI and may guide surgical decisions.
Article Synopsis
- Children with congenital hypothyroidism often experience oral disorders like feeding difficulties, swallowing issues, and macroglossia (enlarged tongue), which can also occur in severe acquired myxedema related to autoimmune thyroiditis.
- Lingual ectopy (abnormal positioning of the tongue) in both children and adults can cause respiratory or swallowing problems, and these conditions can be identified through visual exams or touch assessments.
- Early detection and treatment of hormonal deficits through neonatal screening and serum tests have improved management, but caution is needed in dental care due to potential bleeding issues, and there's a genetic link between oral symptoms and medullary thyroid cancer.
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake.
View Article and Find Full Text PDFStates of chronic parathyroid hypersecretion, related to a primitive parathyroid abnormality (adenoma, hyperplasia), or to a cause of chronic calcipenia (renal failure, vitamin D deficiency…) have a major impact on bone remodeling, alveolodental structures. Thinning of the lamina dura, maxillary or mandibular brown tumors, giant cell epulis are the most emblematic signs of the primary hyperparathyroidism. Other expressions are related to genetic factors such as fibrous tumors of the jaw in conjunction with mutations in the gene coding for parafibromin.
View Article and Find Full Text PDFChronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease.
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