A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.

Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption.

Risk factors predicting the 'time to first fracture' and its association with imminent fractures: a substudy of the FRISBEE cohort.

Unlabelled: Only previous glucocorticoid use and rheumatoid arthritis were predictors of an early fracture (< 2 years after inclusion). A shorter 'time to first fracture' was not an independent clinical risk factor for imminent fractures.

Purpose: Risk factors for fragility fractures independent of BMD were assessed in several prediction models.

External validation of FRISBEE 5-year fracture prediction models: a registry-based cohort study.

Unlabelled: Five-year fracture risk prediction from the Fracture Risk Brussels Epidemiological Enquiry (FRISBEE) models was externally tested in 9716 Canadian women and demonstrated good discrimination but consistently overestimated risk.

Introduction: Five-year risk prediction models for all fractures, major osteoporotic fractures (MOFs) and central fractures (proximal to forearm and ankle) from the FRISBEE cohort demonstrated good performance in the original derivation cohort. Our aim was to externally validate the FRISBEE-based 5-year prediction models in routine practice.

Congenital hyperinsulinism-A case of mild hypoglycemia in an adult, detected by family testing.

Symptoms of mild hypoglycemia are easily overlooked especially when there are no complaints from the patients, but it could be a warning sign of an underlying genetic disease. Genetic testing for the entire family is a key step in neonatal hypoglycemia workup.

Rare cause of a resistant hypertension in a middle-aged man: A case report.

Congenital adrenal hyperplasia associated to 11-beta-hydroxylase deficiency is a rare cause of secondary hypertension, usually discovered during childhood; however, a late diagnosis in adults has also been reported. Despite low cortisol levels, accumulated adrenal steroid precursors can activate the glucocorticoid receptor and thus protect the patient against adrenal crisis.

Fracture distribution in postmenopausal women: a FRISBEE sub-study.

Unlabelled: We registered 1336 incident-validated fractures in a prospective cohort of 3560 postmenopausal (60-85 years) Belgian women (mean follow-up of 9.1 years). The increase of fracture incidence with age varied widely depending on the fracture site and was significantly steeper for central than for peripheral fractures (e.

Severe osteoporosis as atypical presentation of hereditary hemochromatosis.

Besides important metabolic repercussions, iron overload is reported to be associated with deleterious effects on articulations and bones. We present the case of a male patient diagnosed with severe osteoporosis and vertebral fracture, in whom the evaluation for secondary osteoporosis revealed hereditary hemochromatosis.

Antenatal insulin therapy in gestational diabetes mellitus: validation of the new Brugmann scores.

Background: Following the adoption of the International Association of Diabetes and Pregnancy Study Group (IADPSG) criteria for gestational diabetes mellitus (GDM) diagnosis by the World Health Organization (WHO) in 2014, many investigators have tried to identify independent risk factors for antenatal insulin therapy (AIT). The purpose of the current study is to build and validate a score that stratifies patients according to their need for AIT.

Methods: All pregnant women diagnosed with GDM according to the IADPSG definition were included.

Fragility Fractures in Postmenopausal Women: Development of 5-Year Prediction Models Using the FRISBEE Study.

Context: Individualized fracture risk may help to select patients requiring a pharmacological treatment for osteoporosis. FRAX and the Garvan fracture risk calculators are the most used tools, although their external validation has shown significant differences in their risk prediction ability.

Objective And Methods: Using data from the Fracture Risk Brussels Epidemiological Enquiry study, a cohort of 3560 postmenopausal women aged 60 to 85 years, we aimed to construct original 5-year fracture risk prediction models using validated clinical risk factors (CRFs).

Independent External Validation of FRAX and Garvan Fracture Risk Calculators: A Sub-Study of the FRISBEE Cohort.

Probabilistic models including clinical risk factors with or without bone mineral density (BMD) have been developed to estimate the 5- or 10-year absolute fracture risk. We investigated the performance of the FRAX and Garvan tools in a well-characterized population-based cohort of 3560 postmenopausal, volunteer women, aged 60 to 85 years at baseline, included in the Fracture Risk Brussels Epidemiological Enquiry (FRISBEE) cohort, during 5 years of follow-up. Baseline data were used to calculate the estimated 10-year risk of hip and major osteoporotic fractures (MOFs) for each participant using FRAX (Belgium).

Prediction of an Imminent Fracture After an Index Fracture - Models Derived From the Frisbee Cohort.

Patients who sustain a fracture are at greatest risk of recurrent fracture during the next 2 years. We propose three models to identify subjects most at risk of an imminent fracture, according to fracture site (any fracture, major osteoporotic fracture [MOF] or central). They were constructed using data of the prospective Frisbee cohort, which includes 3560 postmenopausal women aged 60 to 85 years who were followed for at least 5 years.

Which treatment to prevent an imminent fracture?

Purpose: To provide a summarized state of the art of the relative efficacy and rapidity of action of pharmacological treatments to prevent imminent osteoporotic fractures.

Methods: We reviewed metanalyses (MA) and network metaanalyses (NMA) published during the last 10 years concerning the pharmacological treatment of osteoporosis. We compared the anti-fracture efficacy and the rapidity of action of various agents versus placebo and versus risedronate.

A rare cause of persistent hyperparathyroidism.

In a case of patient with persistent hypercalcemia after parathyroidectomy, different imaging techniques and particularly 18F-fluorocholine PET/CT are important to localize the adenoma even in a very unusual location.

Multiple Endocrine Neoplasia or Accidental Association?

Unlabelled: Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain. We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism.

Can we safely reduce the administration of 131-iodine in patients with differentiated thyroid cancer? - experience of the Brugmann hospital in Brussels.

Background: 131-iodine (I) administration after surgery remains a standard practice in differentiated thyroid cancer (DTC). In 2014, the American Thyroid Association presented new guidelines for the staging and management of DTC, including no systematic I in patients at low-risk of recurrence and a reduced I activity in intermediate risk.The present study aims at evaluating the rate of response to treatment following this new therapeutic management compared to our previous treatment strategy in patients with DTC of different risks of recurrence.

Assessment of bone quality with trabecular bone score in type 2 diabetes mellitus: A study from the FRISBEE cohort.

Objective: The purpose of our study was to compare bone mineral density (BMD) and trabecular bone score (TBS) values between patients with type 2 diabetes (T2D) and control subjects with similar FRAX scores in order to evaluate TBS as an additional tool for assessing fracture risk in diabetic subjects.

Methods: A cross-sectional analysis was performed using BMD results from 260 subjects participating in the FRISBEE study (Fracture RISk Brussels Epidemiological Enquiry), an ongoing prospective epidemiological study in a population-based cohort (Brussels, Belgium) of 3560 postmenopausal women aged 60-85 years. TBS measurement was possible in 1108 subjects from the FRISBEE cohort.