Georges Weryha

• Centre Hospitalier Universitaire de Nancy

After a 2-year hiatus, due to the recent COVID-19 pandemic, the 10th biannual conference on Systems Medicine, Personalised Health and Therapy, under the auspices of the Santorini Conferences Association (SCs), the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC), the European Federation of Clinical Chemistry and Laborat...

Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxyvitamin D3. VDDR1B is a severe form of rickets that occurs during infancy and which is responsive to 25...

Immune control point (ICI) inhibitors represent a significant advance in the management and survival of cancers such as melanoma or non-small cell bronchial carcinoma. However, they induce unusual side effects, such as hypophysitis, which are rarely described elsewhere. This nationwide retrospective study describes the characteristics of hypophysit...

Current histoprognostic parameters and prognostic scores used in paragangliomas and pheochromocytomas do not adequately predict the risk of metastastic progression and survival. Here, using a series of 147 cases of paraganglioma and pheochromocytoma, we designed and evaluated the potential of a new score, the COPPS (COmposite Pheochromocytoma/parag...

Osteoporosis is a common complication of cerebral palsy and Rett’s syndrome. It is responsible for multiple fractures, bone pain, and impaired quality of life. In case of Rett’s syndrome, a specific dysfunction of osteoblasts causes bone fragility. We observed the effects of annual zoledronic acid (ZA) infusion in a cohort of children with cerebral...

Paired cartilage and subchondral bone of subjects with no clinical history of joint disorders were analyzed to determine whether antioxidant enzymes, inflammatory cytokines and growth factors can be linked to a pre-osteoarthritis. Tissue explants were phenotyped according to Osteoarthritis Research Society International grading and micro-computed t...

The 9th traditional biannual conference on Systems Medicine, Personalised Health & Therapy—“The Odyssey from Hope to Practice”, inspired by the Greek mythology, was a call to search for practical solutions in cardio-metabolic diseases and cancer, to resolve and overcome the obstacles in modern medicine by creating more interactions among discipline...

Immunotherapy with immune checkpoint inhibitors (ICIs) for cancer has become increasingly prescribed in recent years. Indeed, it is used to treat both solid and hematological malignancies due to their considerable potential in treating melanoma, non‐small cell lung and other cancers. Immune‐mediated related adverse endocrine toxicity, and especiall...

Le rachitisme de type IB est une maladie très rare due à un déficit en CYP2R1 induisant l’absence de 25 hydroxylation de la vitamine D. Nous décrivons 3 patients adultes déficients en CYP2R1 traités pendant l’adolescence pour un rachitisme. Ces patients ont arrêté leurs traitements à la fin de l’adolescence et sont revenus à la clinique plus de 15...

Introduction De nombreux tests de biologie comportent des réactifs biotinylés. La prise de biotine à haute dose (BHD 300 mg/jour ; QIZENDAY®) dans le cadre de la sclérose en plaques peut induire des interférences et fausser leurs résultats. Nous rapportons 2 cas de patientes traitées par BHD illustrant cette interaction. Cas cliniques Madame XX1,...

Introduction La tomographie par émission de positons à la ¹⁸F-FDOPA couplée à la tomodensitométrie (¹⁸F-FDOPA-TEP/TDM) est un examen sensible pour le diagnostic des phéochromocytomes (PHEO) mais son utilité comme facteur prédictif de leur sécrétion hormonale est peu étudiée. Méthodes Nous avons comparé la sécrétion hormonale (dosage des métanéphri...

Background: 18F-FDOPA positron emission tomography/computed tomography (PET/CT) is a sensitive nuclear imaging for the diagnosis of pheochromocytomas (PHEO). However, its utility as a predictive factor of the secretion of catecholamines remains poorly studied. Methods: Thirty-nine histologically-confirmed PHEO were included in this retrospective...

Objectives: To update the 2012 recommendations on pharmacotherapy for postmenopausal osteoporosis, under the aegis of the Bone Task Force of the French Society for Rheumatology (SFR) and of the Osteoporosis Research and Information Group (GRIO), in collaboration with scientific societies (Collège National des Généralistes Enseignants, Collège Nati...

Résumé Objectifs Actualiser sous l’égide de la section os de la Société française de rhumatologie (SFR) et du groupe de recherche et d’information sur les ostéoporoses (GRIO) en collaboration avec des sociétés savantes (Collège National des Généralistes Enseignants, Collège National des Gynécologues et Obstétriciens Français, Fédération Nationale...

In response to the recently published article by Reidy-Lagunes et al., which deals with clinical response to mitotane treatment in advanced adrenocortical carcinoma and the toxicity associated with this treatment, this letter to the editor reports a case of mitotane-induced encephalopathy during a high-dose mitotane treatment in adrenocortical carc...

Introduction L’hypercalcémie hypocalciurique familiale (HHF) est une hypercalcémie bénigne rare parfois difficile à distinguer de l’hyperparathyroïdie primaire (HPT1) modérée. L’association HHF/HPT1 est assez rare : un cas figure dans la littérature [1]. Cas clinique Nous rapportons le cas d’une patiente de 69 ans présentant une hypercalcémie asso...

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations. The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheoc...

Vitamin D requires a two-step activation by hydroxylation: the first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2), and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with Vitamin D-dependent rickets type 1B (VD...

Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility g...

Objective: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin is controlled. The aim of our study was to determine whether a regular MRI follow-up was necessary in patients with long-term normal prolactin lev...

The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health (Haute autorité de santé, or HAS) limited the indications for serum 25OHD measurements to rickets/osteomalacia, older adults with recurrent falls, monitori...

Introduction Le traitement de 1re ligne des macroprolactinome est le plus souvent médicamenteux. Une fois la prolactine normalisée sous agonistes dopaminergiques, il n’existe pas de recommandation sur la nécessité d’un suivi IRM. L’objectif de notre étude était d’évaluer si les patients porteurs de macroprolactinome dont la prolactine était normali...

Introduction Le pheochromocytome est une tumeur medullosurrenalienne rare, pouvant survenir sporadiquement ou etre genetiquement determine. Parmi les syndromes de predisposition, la neurofibromatose de type 1 (NF1) (incidence de 1/3600) s’accompagne d’un pheochromocytome dans 0,1 a 6 % des cas, mais son diagnostic repose avant tout sur des signes c...

Introduction L’hyperplasie macronodulaire bilatérale des surrénales (BMAH) est une cause rare d’hypercorticisme pour laquelle la surrénalectomie bilatérale demeure encore, malgré les comorbidités qu’elle engendre, le traitement de référence. Observation Nous rapportons le cas d’une patiente de 43 ans présentant un syndrome de Cushing ACTH indépend...

Ces dernieres annees, l’outil pedagogique mis a disposition des etudiant(e)s en medecine n’a cesse d’evoluer avec, en particulier, la distribution de tablettes numeriques comme support d’enseignement et d’evaluation, conformement au projet SIDE-S (systeme informatique distribue d’evaluation en sante). L’equipe medicale du service d’endocrinologie...

Introduction La polyendocrinopathie auto-immune (PEAI) de type 2 associe classiquement une maladie d’Addison a plusieurs autres atteintes endocriniennes d’origine auto-immune telles qu’une thyroidite lymphocytaire, un diabete de type 1, un vitiligo ou une insuffisance gonadique. Observation Une patiente de 31 ans fut admise en urgence pour des doul...

Le comite scientifique du Groupe de recherche et d’information sur les osteoporoses (GRIO), a ete recemment informe de cas de non-remboursement du dosage du CTX serique. Cette situation qui pose probleme a la bonne prise en charge des patients vient d’une incoherence dans la nomenclature des analyses de biologie medicale (NABM).La concentration ser...

Deficiency in methyl donor (folate and vitamin B12) and in vitamin D is independently associated with altered bone development. Previously, methyl donor deficiency (MDD) was shown to weaken the activity of nuclear receptor coactivator, peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α), for nuclear signaling in rat pups, including...

Le score de l’os trabéculaire (TBS) est un indice relativement nouveau obtenu au rachis lombaire en même temps que la densité minérale osseuse globale. Il a été développé pour rendre compte la microarchitecture osseuse. Ce score a été proposé pour être facilement utilisable dans la pratique quotidienne pour rendre compte de la solidité des os. Notr...

Background: McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life. Methods: A series of 14 pediatric cases were followed between 1994 and 2013 by the competence center for rare endocrine diseases and constitutional bone diseases at CHU de Nancy...

The better knowledge of the mechanisms of nuclear incidents and lessons learned from accidents in the recent past to improve the effectiveness of measures taken following a nuclear accident exposure to fallout of radioactive iodine isotopes. Thus, immediate, passive measures, such as containment, and stopping consumption of contaminated products ar...

. Differentiated thyroid cancer (DTC) is rare and confers good prognosis. Long-term health related quality of life (HRQoL) and pregnancy outcomes are not well known in subjects treated during adolescence and young adulthood. Methods . Cross-sectional analysis of HRQoL and global self-esteem, using SF-36 and ISP-25 surveys, and of pregnancy outcomes...

Denosumab is an anti-RANK ligand (RANKL) monoclonal antibody approved for the treatment of postmenopausal osteoporosis and prevention of skeletal metastasis complications. Administered subcutaneously every 6months, it reduces the risk of vertebral fracture by 70% and of hip fracture by 40%. Its safety profile is acceptable. Denosumab may be used to...

Background: Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the GTE-cohort ass...

Background: Subacute thyroiditis is an inflammatory thyroid disorder and its coexistence with pheochromocytoma is uncommon. Both diagnostic entities have similar clinical signs, which can mislead a correct diagnosis. Method: We report a case of a patient with pheochromocytoma revealed by subacute thyroiditis, describe the clinical course and manage...

The Trabecular Bone Score is a rather new index obtained at the lumbar spine at the same time as a real bone mineral density. It was developed to reflect bone microarchitecture. It was proposed to be easily used in everyday practice as a surrogate of bone strength. Our aim was to review 1. technical points such as correlations between Trabecular Bo...

Introduction La chirurgie bariatrique est une réponse à l’épidémie mondiale d’obésité de l’adulte. Le court-circuit gastrique représente la majorité des interventions dans le monde. Il provoque des bouleversements métaboliques aigus qui affectent l’équilibre osseux. Cette revue est consacrée aux conséquences osseuses du court-circuit gastrique. Ma...

Introduction Le court-circuit gastrique représente la majorité des interventions de chirurgie bariatrique dans le monde. L’objectif de notre étude longitudinale était d’évaluer les modifications du métabolisme osseux au cours des 2 premières années suivant un court-circuit gastrique. Patients et méthodes Nous avons examiné rétrospectivement les do...

Alpha-blockade is the standard management preoperatively to prevent intraoperative hemodynamic instability (IHD) during resection of a pheochromocytoma. Calcium channel blockers also have been shown to lessen the risk of IHD. We aim to determine differences between these classes of antihypertensive agents in minimizing IHD. This was a retrospective...

Pituitary adenomas (PA) represent in the majority of cases, benign tumors whose treatment currently associate surgery, medical therapies and radiotherapy in a multidisciplinary approach. While trans-sphenoidal surgery remains, except for prolactin-secreting adenomas, the first-line treatment of PA, it can considerably be hampered by the existence o...

As far as the reform of the "Diplômes d'études spécialisées" (DES) is approaching, a first national evaluation of the Medical Gynecology diploma was necessary. The objective was to evaluate the practices of the theoretical teaching with the whole students, by receiving their opinions and their wishes of changing, and by proposing some improving mea...

To update the recommendations on the prevention and treatment of glucocorticoid-induced osteoporosis issued in 2003 by the French National Authority for Health (HAS). This update was performed under the aegis of the Bone Section of the French Society for Rheumatology (SFR) and Osteoporosis Research and Information Group (GRIO), in collaboration wit...

Purpose: Thyrotropin-secreting pituitary adenomas (TSHomas) represent a rare subtype of pituitary tumors. Neurosurgery (NCH) is still considered the first-line therapy. In this study we aimed to investigate the outcome of different treatment modalities, including first line somatostatin analogs (SSA) treatment, with a specific focus on neurosurger...

Sous l’égide de la section Os de la Société française de rhumatologie (SFR) et du Groupe de recherche et d’information sur les ostéoporoses (GRIO) en collaboration avec des sociétés savantes (collège national des généralistes enseignants généralistes, Société nationale française de gastroentérologie, Société nationale française de médecine interne,...

La mesure de la concentration serique de 25-hydroxy vitamines D (25OHD) permet d’evaluer le statut vitaminique D d’un individu. Ceci ne signifie pas qu’il faille doser ce parametre biologique chez tous les patients. Le nombre de prescriptions de dosages de 25OHD a pourtant decuple en France entre 2005 et 2013 generant un cout important de rembourse...

La présente revue de la littérature a pour objectif d’argumenter les nouvelles recommandations françaises publiées en 2012 retenant le risque de chute, évalué par l’antécédent de chute dans la dernière année, comme indication de la mesure de la densité minérale osseuse (DMO) par l’absorptiométrie biphotonique par rayons X (DXA). Cette recommandatio...

49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age of 54 years. So far, no medical follow-up was perform...

Objective: Several studies have suggested that orthostatic hypotension may be an independent predictor of cardiovascular or cerebrovascular risk and all-cause mortality, particularly in a geriatric population. In 1996, a consensus defined orthostatic hypotension as a SBP fall at least 20 mmHg and/or a DBP fall at least 10 mmHg within 3 min of stan...

Background: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well char...

The objective of this systematic literature review is to discuss the latest French recommendation issued in 2012 that a fall within the past year should lead to bone mineral density (BMD) measurement using dual-energy X-ray absorptiometry (DXA). This recommendation rests on four facts. First, osteoporosis and fall risk are the two leading risk fact...

The complex management of acromegaly has transformed this disease into a chronic condition, with the risk of patients being lost to follow-up. The objective of this study was to estimate the proportion of acromegalic patients lost to follow-up in France and determine the impact that abandoning follow-up has on the disease and its management. ACROSP...

Introduction L’éducation thérapeutique (ET) est reconnue comme une composante essentielle du traitement des patients diabétiques. Selon l’arrêté du 2 août 2010, « l’acquisition des compétences nécessaires pour dispenser l’éducation thérapeutique du patient requiert une formation d’une durée minimale de 40 heures d’enseignements théoriques et pratiq...

The percentage of residents in nursing homes who have diabetes is estimated to be 20–30%. They are often heavy fragile, polypathological, and sometimes with major cognitive disorders. At this age and in this context, strict control of diabetes is secondary in relation to the prevention of fall hazards, and undernutrition, sarcopenia and cognitive d...

First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. The responsible gene, DCAF17 located on chromosome 2q31.1, was discovered in 2008 and to date nine mutations have been reported in the literature. The aim of the study was to review...

Sexual steroids are major determinants of skeletal maturation and steady state. Estrogens are mandatory in both sexes. They induce endochondral bone formation and growth plate knitting. Androgens are mainly active in male. They increase length and radial bone growth. These differences explain the duality of biomechanics in both sexes. Deep androgen...

Objective To investigate the effect of pioglitazone on inflammation-induced bone loss and changes in bone microarchitecture in rats with adjuvant-induced arthritis (AIA), focusing on the contribution of interleukin-17 (IL-17) and the balance of RANKL and osteoprotegerin (OPG). Methods Male Lewis rats sensitized with Freund's complete adjuvant were...

A third of patients with paraganglial tumors, pheochromocytoma and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127 and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-Pheochromocytoma-Parag...

Although the management of diabetes as a simple entity has been extensively developed, there is a dearth of evidence in elderly, frail patients with multiple comorbidities and polymedication. This population represents a large proportion of the residents of nursing homes (NHs). As a multidisciplinary group of French experts (geriatricians, endocrin...

Chromosomal abnormalities are common in patients with oligozoospermia or azoospermia. We report the case of a 32-year patient, with male phenotype, and without hormonal or morphological abnormalities, with a severely reduced spermatogenesis. It was revealed a 45,X/46,XY gonadal dysgenesis. We have reviewed the various problems inherent in the disco...

Les anomalies chromosomiques sont fréquentes chez les patients présentant une oligozoospermie sévère ou une azoospermie. Nous rapportons ici le cas d’un patient de 32 ans, de phénotype masculin, sans anomalies morphologiques ou hormonales, présentant une altération sévère de la spermatogenèse. Il a été mis en évidence une formule chromosomique en m...

Background Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns....

Objective: High Authority for Health (HAS) edited in April 2011 a national program of care and diagnostic (PNDS) concerning congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in agreement with the international recommendation 2002 and 2010. To reduce long-term complications and improve the quality of life to our patients, we had...

Background: Vitamin D insufficiency has deleterious consequences on health outcomes. In elderly or postmenopausal women, it may exacerbate osteoporosis. Scope: There is currently no clear consensus on definitions of vitamin D insufficiency or minimal targets for vitamin D concentrations and proposed targets vary with the population. In view of t...

Context: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a population. Objective: We assessed...

Aspects of osteoporosis in men, such as screening and identification strategies, definitions of diagnosis and intervention thresholds, and treatment options (both approved and in the pipeline) are discussed. Introduction: Awareness of osteoporosis in men is improving, although it remains under-diagnosed and under-treated. A European Society for C...

This review summarizes the available evidence-based data that form the basis for therapeutic intervention and covers the current status of glucocorticoid-induced osteoporosis (GIOP) management, regulatory requirements, and risk-assessment options. Glucocorticoids are known to cause bone loss and fractures, yet many patients receiving or initiating...

Objective: We report an exceptional case of non-islet cell tumor-induced hypoglycemia (NICTH) secondary to "Big"-IGF-2 oversecretion due to a giant phyllode tumor of the breast. Clinical presentation: A 49-year-old woman was admitted in emergency for brutal neurologic defect revealing severe hypoglycemia. Several similar episodes were observed t...

We report the changes in biochemical markers of bone formation during the first 6 months of teriparatide therapy in postmenopausal women with osteoporosis according to previous antiresorptive treatment. Prior therapy does not adversely affect the response to teriparatide treatment. Similar bone markers levels are reached after 6 months of treatment...