A5024297128- Thyroid Disorders and Treatments
- Parathyroid Disorders and Treatments
- Health Systems, Economic Evaluations, Quality of Life
- Congenital Anomalies and Fetal Surgery
- Congenital heart defects research
- Clinical practice guidelines implementation
- Biomedical Research and Pathophysiology
- Bone health and treatments
- Erythrocyte Function and Pathophysiology
- Ovarian function and disorders
- Ion channel regulation and function
- Reproductive Biology and Fertility
- Reproductive Physiology in Livestock
- Salivary Gland Tumors Diagnosis and Treatment
- Sperm and Testicular Function
- Neonatal Health and Biochemistry
- Blood disorders and treatments
- Testicular diseases and treatments
- Thyroid Cancer Diagnosis and Treatment
- Healthcare Quality and Management
- Biomedical Text Mining and Ontologies
- Ion Transport and Channel Regulation
- Hypothalamic control of reproductive hormones
- Growth Hormone and Insulin-like Growth Factors
- Hemoglobinopathies and Related Disorders
Erasmus Hospital
2004-2021
Université Libre de Bruxelles
2021
Congenital hypothyroidism (CH) is a relatively frequent and potentially severe disease. It classically subdivided into: 1) thyroid dysgenesis (TD), defect in the organogenesis of gland leading to hypoplastic, ectopic, or absent gland; 2) dyshormonogenesis, one biochemical mechanisms responsible for hormone synthesis. Most cases TD are sporadic, although familial occurrences have occasionally been described. Recently, several genes implicated small proportion TD, but, majority cases, etiology...
Thyroid dysgenesis is the most common cause of congenital hypothyroidism, a relatively frequent disease affecting 1 in 3000–4000 newborns. Whereas cases are sporadic, mutations transcription factors implicated thyroid development have been shown to minority transmitted as monogenic Mendelian diseases. PAX8 one these factors, and so far, five identified its paired domain patients with dysgenesis. We novel mutation PAX8, heterozygous state, father his two children both presenting...
The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled (GPCR) that plays central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance corpus luteum pregnancy, as well testicular testosterone production. Mutations the LHCGR gene are very rare. aim this work was to study clinical molecular characteristics rare familial mutation.Five affected members family, including phenotypically female, but genotypically (46,XY), patient...
Endocrinology Service and Research Center (S.S.-V., J.D.), Otorhinolaryngology Department (A.L.), Nuclear Medicine (S.T.), Centre Hospitalier Universitaire Sainte-Justine, of Pediatrics, University Montreal, Canada H3T 1C5; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire Genetics (C.R., G.V.), Erasme Hospital, Free Brussels, B-1070 Belgium
Context: Resistance to TSH (RTSH) is an inherited disorder of variable hyposensitivity TSH. The metabolic consequences can range from euthyroid hyperthyrotropinemia severe congenital hypothyroidism with thyroid hypoplasia. Although subclinical and mild fitting the RTSH phenotype common in population, role genetic factors far being understood. Only rare cases has been attributed TSHR or PAX8 gene mutations.
Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays key role maintaining homeostasis and study the CASR gene can be clinically useful determining etiology appropriate therapeutic approaches. We report two cases novel mutations that illustrate varying clinical presentations discuss these terms current understanding function.A 16-year-old patient had mild hypercalcemia associated with low-normal urinary excretion...
Background Participation in quality controls, also called external assessment (EQA) schemes, is required for the ISO15189 accreditation of Medical Centers Human Genetics. However, directives on minimal frequency participation genetic control schemes are lacking or too heterogeneous, with a possible impact health care quality. Objective The aim this project to develop Belgian guidelines controls testing context rare diseases. Methods A group experts analyzed 90 EQA offered by accredited...
<sec> <title>BACKGROUND</title> Participation in quality controls, also called external assessment (EQA) schemes, is required for the ISO15189 accreditation of Medical Centers Human Genetics. However, directives on minimal frequency participation genetic control schemes are lacking or too heterogeneous, with a possible impact health care quality. </sec> <title>OBJECTIVE</title> The aim this project to develop Belgian guidelines controls testing context rare diseases. <title>METHODS</title> A...