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1.
Osteoporos Int ; 35(1): 1-10, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37982855

ABSTRACT

Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting in low activity of tissue nonspecific alkaline phosphatase (TNSALP). Patients with HPP tend have a similar pattern of elevation of natural substrates that can be used to aid in diagnosis. No formal diagnostic guidelines currently exist for the diagnosis of this condition in children, adolescents, or adults. The International HPP Working Group is a comprised of a multidisciplinary team of experts from Europe and North America who have expertise in the diagnosis and management of patients with HPP. This group reviewed 93 papers through a Medline, Medline In-Process, and Embase search for the terms "HPP" and "hypophosphatasia" between 2005 and 2020 and that explicitly address either the diagnosis of HPP in children, clinical manifestations of HPP in children, or both. Two reviewers independently evaluated each full-text publication for eligibility and studies were included if they were narrative reviews or case series/reports that concerned diagnosis of pediatric HPP or included clinical aspects of patients diagnosed with HPP. This review focused on 15 initial clinical manifestations that were selected by a group of clinical experts.The highest agreement in included literature was for pathogenic or likely pathogenic ALPL variant, elevation of natural substrates, and early loss of primary teeth. The highest prevalence was similar, including these same three parameters and including decreased bone mineral density. Additional parameters had less agreement and were less prevalent. These were organized into three major and six minor criteria, with diagnosis of HPP being made when two major or one major and two minor criteria are present.


Subject(s)
Hypophosphatasia , Adult , Child , Humans , Adolescent , Hypophosphatasia/diagnosis , Hypophosphatasia/genetics , Alkaline Phosphatase/genetics , Europe , Prevalence , Mutation
2.
Osteoporos Int ; 35(3): 439-449, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37982856

ABSTRACT

Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from pathogenic variants in the ALPL gene. Clinical presentation of HPP is highly variable, including lethal and severe forms in neonates and infants, a benign perinatal form, mild forms manifesting in adulthood, and odonto-HPP. Diagnosis of HPP remains a challenge in adults, as signs and symptoms may be mild and non-specific. Disease presentation varies widely; there are no universal signs or symptoms, and the disease often remains underdiagnosed or misdiagnosed, particularly by clinicians who are not familiar with this rare disorder. The absence of diagnosis or a delayed diagnosis may prevent optimal management for patients with this condition. Formal guidelines for the diagnosis of adults with HPP do not exist, complicating efforts for consistent diagnosis. To address this issue, the HPP International Working Group selected 119 papers that explicitly address the diagnosis of HPP in adults through a Medline, Medline In-Process, and Embase search for the terms "hypophosphatasia" and "HPP," and evaluated the pooled prevalence of 17 diagnostic characteristics, initially selected by a group of HPP clinical experts, in eligible studies and in patients included in these studies. Six diagnostic findings showed a pooled prevalence value over 50% and were considered for inclusion as major diagnostic criteria. Based on these results and according to discussion and consideration among members of the Working Group, we finally defined four major diagnostic criteria and five minor diagnostic criteria for HPP in adults. Authors suggested the integrated use of the identified major and minor diagnostic criteria, which either includes two major criteria, or one major criterion and two minor criteria, for the diagnosis of HPP in adults.


Subject(s)
Hypophosphatasia , Infant , Adult , Infant, Newborn , Humans , Hypophosphatasia/diagnosis , Hypophosphatasia/epidemiology , Hypophosphatasia/genetics , Alkaline Phosphatase/genetics , Mutation , Prevalence
3.
Osteoporos Int ; 35(3): 431-438, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37982857

ABSTRACT

BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features. METHODS: An International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations. RESULTS: The IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition. CONCLUSION: Following consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.


Subject(s)
Hypophosphatasia , Adult , Child , Humans , Hypophosphatasia/diagnosis , Hypophosphatasia/genetics , Mutation , Retrospective Studies , Alkaline Phosphatase/genetics , Genotype , Phenotype
4.
J Intern Med ; 293(3): 309-328, 2023 03.
Article in English | MEDLINE | ID: mdl-36511653

ABSTRACT

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 (FGF23). Patients present with progressive bone pain, muscle weakness, and fragility fractures. TIO is characterized by hypophosphatemia, excess renal phosphate excretion, and low/inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2 D) levels. Rarity and enigmatic clinical presentation of TIO contribute to limited awareness among the medical community. Accordingly, appropriate diagnostic tests may not be requested, leading to delayed diagnosis and poorer patient outcomes. We have developed a global guidance document to improve the knowledge of TIO in the medical community, enabling the recognition of patients with TIO and appropriate referral. We provide recommendations aiding diagnosis, referral, and treatment, helping promote a global standard of patient management. We reviewed the literature and conducted a three-round Delphi survey of TIO experts. Statements were drafted based on published evidence and expert opinions (≥70% consensus required for final recommendations). Serum phosphate should be measured in patients presenting with chronic muscle pain or weakness, fragility fractures, or bone pain. Physical examination should establish features of myopathy and identify masses that could be causative tumors. Priority laboratory evaluations should include urine/serum phosphate and creatinine to assess renal tubular reabsorption of phosphate and TmP/GFR, alkaline phosphatase, parathyroid hormone, 25-hydroxyvitamin D, 1,25(OH)2 D, and FGF23. Patients with the clinical/biochemical suspicion of TIO should be referred to a specialist for diagnosis confirmation, and functional imaging should be used to localize causative tumor(s). Recommended treatment is tumor resection or, with unresectable/unidentifiable tumors, phosphate salts plus active vitamin D, or burosumab.


Subject(s)
Fractures, Bone , Hypophosphatemia , Paraneoplastic Syndromes , Humans , Phosphates/therapeutic use , Hypophosphatemia/complications , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Paraneoplastic Syndromes/therapy , Pain , Fibroblast Growth Factors
5.
Osteoporos Int ; 34(6): 1011-1035, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37014390

ABSTRACT

INTRODUCTION: Osteoporosis is a major disease state associated with significant morbidity, mortality, and health care costs. Less than half of the individuals sustaining a low energy hip fracture are diagnosed and treated for the underlying osteoporosis. OBJECTIVE: A multidisciplinary Canadian hip fracture working group has developed practical recommendations to meet Canadian quality indicators in post hip fracture care. METHODS: A comprehensive narrative review was conducted to identify and synthesize key articles on post hip fracture orthogeriatric care for each of the individual sections and develop recommendations. These recommendations are based on the best evidence available today. CONCLUSION: Recommendations are anticipated to reduce recurrent fractures, improve mobility and healthcare outcomes post hip fracture, and reduce healthcare costs. Key messages to enhance postoperative care are also provided.


Subject(s)
Hip Fractures , Osteoporosis , Humans , Canada/epidemiology , Hip Fractures/surgery , Hip Fractures/complications , Osteoporosis/complications , Osteoporosis/therapy , Quality Indicators, Health Care , Treatment Outcome
6.
CMAJ ; 195(39): E1333-E1348, 2023 10 10.
Article in English | MEDLINE | ID: mdl-37816527

ABSTRACT

BACKGROUND: In Canada, more than 2 million people live with osteoporosis, a disease that increases the risk for fractures, which result in excess mortality and morbidity, decreased quality of life and loss of autonomy. This guideline update is intended to assist Canadian health care professionals in the delivery of care to optimize skeletal health and prevent fractures in postmenopausal females and in males aged 50 years and older. METHODS: This guideline is an update of the 2010 Osteoporosis Canada clinical practice guideline on the diagnosis and management of osteoporosis in Canada. We followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework and quality assurance as per Appraisal of Guidelines for Research and Evaluation (AGREE II) quality and reporting standards. Primary care physicians and patient partners were represented at all levels of the guideline committees and groups, and participated throughout the entire process to ensure relevance to target users. The process for managing competing interests was developed before and continued throughout the guideline development, informed by the Guideline International Network principles. We considered benefits and harms, patient values and preferences, resources, equity, acceptability and feasibility when developing recommendations; the strength of each recommendation was assigned according to the GRADE framework. RECOMMENDATIONS: The 25 recommendations and 10 good practice statements are grouped under the sections of exercise, nutrition, fracture risk assessment and treatment initiation, pharmacologic interventions, duration and sequence of therapy, and monitoring. The management of osteoporosis should be guided by the patient's risk of fracture, based on clinical assessment and using a validated fracture risk assessment tool. Exercise, nutrition and pharmacotherapy are key elements of the management strategy for fracture prevention and should be individualized. INTERPRETATION: The aim of this guideline is to empower health care professionals and patients to have meaningful discussions on the importance of skeletal health and fracture risk throughout older adulthood. Identification and appropriate management of skeletal fragility can reduce fractures, and preserve mobility, autonomy and quality of life.


Subject(s)
Fractures, Bone , Osteoporosis , Aged , Female , Humans , Male , Middle Aged , Canada , Nutritional Status , Osteoporosis/complications , Osteoporosis/diagnosis , Osteoporosis/drug therapy , Quality of Life
7.
Int J Mol Sci ; 24(24)2023 Dec 09.
Article in English | MEDLINE | ID: mdl-38139117

ABSTRACT

Serum phosphate concentration is regulated by renal phosphate reabsorption and mediated by sodium-phosphate cotransporters. Germline mutations in genes encoding these cotransporters have been associated with clinical phenotypes, variably characterized by hyperphosphaturia, hypophosphatemia, recurrent kidney stones, skeletal demineralization, and early onset osteoporosis. We reported a 33-year-old male patient presenting a history of recurrent nephrolithiasis and early onset osteopenia in the lumbar spine and femur. He was tested, through next generation sequencing (NGS), by using a customized multigenic panel containing 33 genes, whose mutations are known to be responsible for the development of congenital parathyroid diseases. Two further genes, SLC34A1 and SLC34A3, encoding two sodium-phosphate cotransporters, were additionally tested. A novel germline heterozygous mutation was identified in the SLC34A1 gene, c.1627G>T (p.Gly543Cys), currently not reported in databases of human gene mutations and scientific literature. SLC34A1 germline heterozygous mutations have been associated with the autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1). Consistently, alongside the clinical features of NPHLOP1, our patient experienced recurrent nephrolithiasis and lumbar and femoral osteopenia at a young age. Genetic screening for the p.Gly453Cys variant and the clinical characterization of his first-degree relatives associated the presence of the variant in one younger brother, presenting renal colic and microlithiasis, suggesting p.Gly453Cys is possibly associated with renal altered function in the NPHLOP1 phenotype.


Subject(s)
Familial Hypophosphatemic Rickets , Nephrolithiasis , Osteoporosis , Humans , Male , Adult , Nephrolithiasis/complications , Nephrolithiasis/genetics , Familial Hypophosphatemic Rickets/genetics , Mutation , Phosphates/metabolism , Sodium-Phosphate Cotransporter Proteins/genetics , Sodium , Sodium-Phosphate Cotransporter Proteins, Type IIa
8.
J Obstet Gynaecol Can ; 44(5): 527-536.e5, 2022 05.
Article in English | MEDLINE | ID: mdl-35577424

ABSTRACT

OBJECTIVE: Provide strategies for improving the care of perimenopausal and postmenopausal women based on the most recent published evidence. TARGET POPULATION: Perimenopausal and postmenopausal women. BENEFITS, HARMS, AND COSTS: Target population will benefit from the most recent published scientific evidence provided via the information from their health care provider. No harms or costs are involved with this information since women will have the opportunity to choose among the different therapeutic options for the management of the symptoms and morbidities associated with menopause, including the option to choose no treatment. EVIDENCE: Databases consulted were PubMed, MEDLINE, and the Cochrane Library for the years 2002-2020, and MeSH search terms were specific for each topic developed through the 7 chapters. VALIDATION METHODS: The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and weak recommendations). INTENDED AUDIENCE: physicians, including gynaecologists, obstetricians, family physicians, internists, emergency medicine specialists; nurses, including registered nurses and nurse practitioners; pharmacists; medical trainees, including medical students, residents, fellows; and other providers of health care for the target population. SUMMARY STATEMENTS: RECOMMENDATIONS.


Subject(s)
Gynecology , Osteoporosis , Physicians , Female , Humans , Menopause , Osteoporosis/therapy
9.
J Obstet Gynaecol Can ; 44(5): 537-546.e5, 2022 05.
Article in English | MEDLINE | ID: mdl-35577425

ABSTRACT

OBJECTIF: Proposer des stratégies pour améliorer les soins aux femmes en périménopause ou ménopausées d'après les plus récentes données probantes publiées. POPULATION CIBLE: Femmes en périménopause ou ménopausées. BéNéFICES, RISQUES ET COûTS: La population cible bénéficiera des plus récentes données scientifiques publiées que leur communiqueront les fournisseurs de soins de santé. Aucun coût ni préjudice ne sont associés à cette information, car les femmes seront libres de choisir parmi les différentes options thérapeutiques offertes pour la prise en charge des symptômes et morbidités associés à la ménopause, y compris l'abstention thérapeutique. DONNéES PROBANTES: Les auteurs ont interrogé les bases de données PubMed, Medline et Cochrane Library pour extraire des articles publiés entre 2002 et 2020 en utilisant des termes MeSH spécifiques à chacun des sujets abordés dans les 7 chapitres. MéTHODES DE VALIDATION: Les auteurs ont évalué la qualité des données probantes et la force des recommandations en utilisant le cadre méthodologique GRADE (Grading of Recommendations, Assessment, Development, and Evaluation). Voir l'annexe A en ligne (tableau A1 pour les définitions et tableau A2 pour l'interprétation des recommandations fortes et faibles). PROFESSIONNELS CONCERNéS: Médecins, y compris gynécologues, obstétriciens, médecins de famille, internistes, urgentologues; infirmières, y compris infirmières autorisées et infirmières praticiennes; pharmaciens; stagiaires, y compris étudiants en médecine, résidents, moniteurs cliniques; et autres fournisseurs de soins auprès de la population cible. DÉCLARATIONS SOMMAIRES: RECOMMANDATIONS.


Subject(s)
Menopause , Osteoporosis , Female , Humans
10.
BMC Endocr Disord ; 21(1): 232, 2021 Nov 20.
Article in English | MEDLINE | ID: mdl-34801015

ABSTRACT

BACKGROUND: The PARADIGHM registry of adult and pediatric patients with chronic hypoparathyroidism evaluates the long-term safety and effectiveness of treatment with recombinant human parathyroid hormone, rhPTH(1-84), and describes the clinical disease course under conditions of routine clinical practice. In this first report, we detail the registry protocol and describe the baseline characteristics of two adult patient cohorts from an interim database analysis. One cohort after study entry were prescribed rhPTH(1-84), and the other cohort received conventional therapy of calcium and active vitamin D. METHODS: An observational study of patients with chronic hypoparathyroidism in North America and Europe, collecting data for ≥10 years per patient. Main outcome measures were baseline patient demographics, clinical characteristics, medications, and disease outcome variables of symptoms, biochemical parameters, and health assessments. Baseline is the enrollment assessment for all variables except biochemical measurements in patients treated with rhPTH(1-84); those measurements were the most recent value before the first rhPTH(1-84) dose. Exclusion criteria applied to the analysis of specified outcomes included pediatric patients, patients who initiated rhPTH(1-84) prior to enrollment, and those who received rhPTH(1-34). Clinically implausible biochemical outlier data were excluded. RESULTS: As of 30 June 2019, data of 737 patients were analyzed from 64 centers; 587 (80%) were women, mean ± SD age 49.1±16.45 years. At enrollment, symptoms reported for patients later prescribed rhPTH(1-84) (n=60) and those who received conventional therapy (n=571), respectively, included fatigue (51.7%, 40.1%), paresthesia (51.7%, 29.6%), muscle twitching (48.3%, 21.9%), and muscle cramping (41.7%, 33.8%). Mean serum total calcium, serum phosphate, creatinine, and estimated glomerular filtration rate were similar between cohorts. Health-related quality of life (HRQoL) 36-item Short Form Health Survey questionnaire scores for those later prescribed rhPTH(1-84) were generally lower than those for patients in the conventional therapy cohort. CONCLUSIONS: At enrollment, based on symptoms and HRQoL, a greater percentage of patients subsequently prescribed rhPTH(1-84) appeared to have an increased burden of disease than those who received conventional therapy despite having normal biochemistry measurements. PARADIGHM will provide valuable real-world insights on the clinical course of hypoparathyroidism in patients treated with rhPTH(1-84) or conventional therapy in routine clinical practice. TRIAL REGISTRATION: EUPAS16927, NCT01922440.


Subject(s)
Hypoparathyroidism/drug therapy , Physicians , Registries , Adult , Aged , Calcium/therapeutic use , Chronic Disease , Clinical Protocols , Female , Hormone Replacement Therapy , Humans , Male , Middle Aged , Parathyroid Hormone/therapeutic use , Prospective Studies , Recombinant Proteins/therapeutic use , Treatment Outcome , Vitamin D
11.
J Aging Phys Act ; 29(2): 219-224, 2021 04 01.
Article in English | MEDLINE | ID: mdl-32820138

ABSTRACT

Fear of falling is a common issue among older adults, which decreases quality of life and leads to an avoidance of activities they are still able to do. The goal of this secondary data analysis was to explore the relationship between fear of falling and exercise self-efficacy in 141 women with at least one nontraumatic Genant Grade 2 vertebral fracture. Fear of falling, exercise self-efficacy, history of falling, the number of falls, the use of assisting devices, and pain at rest or during movement were obtained using medical history and health status questionnaires. There was a negative association between fear of falling and exercise self-efficacy (pseudo R2 = .253; p = .004), which persisted when the analysis was adjusted for history and number of falls, use of assistive devices, and pain at rest (pseudo R2 = .329; p < .0001) or during movement (pseudo R2 = .321; p < .0001). Fear of falling may be negatively associated with exercise self-efficacy in older women with vertebral fracture.


Subject(s)
Accidental Falls , Spinal Fractures , Accidental Falls/prevention & control , Aged , Fear , Female , Humans , Quality of Life , Self Efficacy
12.
Clin Endocrinol (Oxf) ; 93(3): 261-268, 2020 09.
Article in English | MEDLINE | ID: mdl-32350890

ABSTRACT

OBJECTIVE: As only sparse data are available, we aimed to investigate whether needs for activated vitamin D and calcium supplements change in women with hypoparathyroidism during pregnancy and lactation and risk of pregnancy-related complications. DESIGN: Retrospective review of medical records. PATIENTS: Twelve Danish and Canadian patients with chronic hypoparathyroidism who completed 17 pregnancies. MEASUREMENTS: Data were extracted on plasma levels of ionized calcium (P-Ca2+ ) and doses of active vitamin D and calcium supplements during pregnancy (N = 14) and breastfeeding (N = 10). Data on pregnancy complications were available from all 17 pregnancies. RESULTS: Although average doses of active vitamin D (P = .91) and calcium supplements (P = .43) did not change during pregnancies, a more than 20% increase or decrease in dose of active vitamin D was needed in more than half of the pregnancies in order to maintain normocalcemia. Five women (36%) developed hypercalcaemia by the end of pregnancy or start of lactation. Median levels of P-Ca2+ increased from 1.20 mmol/L in third trimester to 1.32 mmol/L in the post-partum period (P < .03). Accordingly, the average dose of active vitamin D was significantly reduced (P = .01) during lactation compared to 3rd trimester. One woman developed severe pre-eclampsia (6%). Further four pregnancies (24%) were complicated by polyhydramnios, dystocia and/or perinatal hypoxia. Ten pregnancies required caesarean delivery (59%) with four (24%) being performed as an emergency. CONCLUSION: In chronic hypoparathyroidism, close medical monitoring of the mother with frequent adjustments in the dose of calcium and active vitamin D is required during pregnancy and lactation in order to maintain normocalcemia. Patients should be offered close obstetric care to handle potential perinatal complications. We recommend evaluating the neonate immediately after birth and notifying the paediatrician of the risks of hypocalcaemia as well as hypercalcaemia in the neonate.


Subject(s)
Breast Feeding , Hypoparathyroidism , Calcium , Canada , Female , Humans , Hypoparathyroidism/drug therapy , Infant, Newborn , Lactation , Pregnancy , Retrospective Studies , Vitamin D
13.
Lancet ; 391(10116): 168-178, 2018 01 13.
Article in English | MEDLINE | ID: mdl-28923463

ABSTRACT

Primary hyperparathyroidism is a common endocrine disorder of calcium metabolism characterised by hypercalcaemia and elevated or inappropriately normal concentrations of parathyroid hormone. Almost always, primary hyperparathyroidism is due to a benign overgrowth of parathyroid tissue either as a single gland (80% of cases) or as a multiple gland disorder (15-20% of cases). Primary hyperparathyroidism is generally discovered when asymptomatic but the disease always has the potential to become symptomatic, resulting in bone loss and kidney stones. In countries where biochemical screening tests are not common, symptomatic primary hyperparathyroidism tends to predominate. Another variant of primary hyperparathyroidism has been described in which the serum calcium concentration is within normal range but parathyroid hormone is elevated in the absence of any obvious cause. Primary hyperparathyroidism can be cured by removal of the parathyroid gland or glands but identification of patients who are best advised to have surgery requires consideration of the guidelines that are regularly updated. Recommendations for patients who do not undergo parathyroid surgery include monitoring of serum calcium concentrations and bone density.


Subject(s)
Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/therapy , Humans , Hyperparathyroidism, Primary/epidemiology
15.
J Clin Densitom ; 22(1): 125-149, 2019.
Article in English | MEDLINE | ID: mdl-28739080

ABSTRACT

Members of the College of Physicians and Surgeons of Ontario Endocrinology and Metabolism Peer Review Network have been involved in a quality improvement project to help standardize the peer assessment of physicians practicing in endocrinology and metabolism. This has included developing state-of-the-art summaries of common endocrine problems by Canadian experts in endocrinology and metabolism. These tools have been developed in response to the educational needs, as identified by peer reviewers, of practicing endocrinologists in Ontario. These pedagogical tools aim not only to standardize the documentation of the clinical performance of endocrinologists but also to make the process more transparent and to improve the quality of patient care in Ontario. This article summarizes the project and also provides the tools developed for the endocrinology and metabolism section of the College of Physicians and Surgeons of Ontario.


Subject(s)
Critical Care/standards , Endocrine System Diseases , Endocrinology/methods , Metabolic Diseases , Peer Review/standards , Quality Improvement , Diagnosis, Differential , Endocrine System Diseases/diagnosis , Endocrine System Diseases/therapy , Endocrinology/standards , Humans , Metabolic Diseases/diagnosis , Metabolic Diseases/therapy
16.
CMAJ ; 195(46): E1585-E1603, 2023 11 26.
Article in French | MEDLINE | ID: mdl-38011931

ABSTRACT

CONTEXTE: Au Canada, plus de 2 millions de personnes vivent avec l'ostéoporose, une maladie qui accroît le risque de fracture, ce qui fait augmenter la morbidité et la mortalité, et entraîne une perte de qualité de vie et d'autonomie. La présente actualisation des lignes directrices vise à accompagner les professionnelles et professionnels de la santé au Canada dans la prestation de soins visant à optimiser la santé osseuse et à prévenir les fractures chez les femmes ménopausées et les hommes de 50 ans et plus. MÉTHODES: Le présent document fournit une actualisation des lignes directrices de pratique clinique de 2010 d'Ostéoporose Canada sur le diagnostic et la prise en charge de l'ostéoporose au pays. Nous avons utilisé l'approche GRADE (Grading of Recommendations Assessment, Development and Evaluation) et effectué l'assurance de la qualité conformément aux normes de qualité et de présentation des rapports de la grille AGREE II (Appraisal of Guidelines for Research & Evaluation). Les médecins de premier recours et les patientes et patients partenaires ont été représentés à tous les niveaux des comités et des groupes ayant participé à l'élaboration des lignes directrices, et ont participé à toutes les étapes du processus pour garantir la pertinence des informations pour les futurs utilisateurs et utilisatrices. Le processus de gestion des intérêts concurrents a été entamé avant l'élaboration des lignes directrices et s'est poursuivi sur toute sa durée, selon les principes du Réseau international en matière de lignes directrices. Dans la formulation des recommandations, nous avons tenu compte des avantages et des risques, des valeurs et préférences de la patientèle, des ressources, de l'équité, de l'acceptabilité et de la faisabilité; la force de chacune des recommandations a été déterminée en fonction du cadre GRADE. RECOMMANDATIONS: Les 25 recommandations et les 10 énoncés de bonne pratique sont répartis en sections : activité physique, alimentation, évaluation du risque de fracture, instauration du traitement, interventions pharmacologiques, durée et séquence du traitement, et monitorage. La prise en charge de l'ostéoporose devrait se fonder sur le risque de fracture, établi au moyen d'une évaluation clinique réalisée avec un outil d'évaluation du risque de fracture validé. L'activité physique, l'alimentation et la pharmacothérapie sont des éléments essentiels à la stratégie de prévention des fractures, qui devraient être personnalisés. INTERPRÉTATION: Les présentes lignes directrices ont pour but d'outiller les professionnelles et professionnels de la santé et la patientèle afin qu'ensemble ils puissent parler de l'importance de la santé osseuse et du risque de fracture tout au long de la vie adulte avancée. La détection et la prise en charge efficace de la fragilité osseuse peuvent contribuer à réduire les fractures et à préserver la mobilité, l'autonomie et la qualité de vie.


Subject(s)
Fractures, Bone , Osteoporosis , Humans , Canada
17.
CMAJ ; 194(23): E815-E816, 2022 06 13.
Article in English | MEDLINE | ID: mdl-35697366

Subject(s)
Medicine , Prejudice , Humans , Islam
18.
J Clin Densitom ; 20(1): 8-24, 2017.
Article in English | MEDLINE | ID: mdl-27956123

ABSTRACT

Osteonecrosis of the jaw (ONJ) has been associated with antiresorptive therapy in both oncology and osteoporosis patients. This debilitating condition is very rare and advances in diagnosis and management may now effectively reduce the risk of its development and offer valuable treatment options for affected patients. This paper provides a case-based review of ONJ and application of the International Task Force on ONJ (referred to as the "Task Force") recommendations for the diagnosis and management of ONJ. The Task Force was supported by 14 international societies and achieved consensus from representatives of these multidisciplinary societies on key issues pertaining to the diagnosis and management of ONJ. The frequency of ONJ in oncology patients receiving oncology doses of bisphosphonate (BP) or denosumab is estimated at 1%-15%, and the frequency in the osteoporosis patient population receiving much lower doses of BP or denosumab is estimated at 0.001%-0.01%. Although the diagnosis of ONJ is primarily clinical, imaging may be helpful in confirming the diagnosis and staging. In those with multiple risk factors for ONJ for whom major invasive oral surgery is being planned, interruption of BP or denosumab therapy (in cancer patients) is advised, if possible, before surgery, until the surgical site heals. Major oral surgery in this context could include multiple extractions if surgical extractions are required, not simple forceps extractions. ONJ development may be reduced by optimizing oral hygiene and postoperatively using topical and systemic antibiotics as appropriate. Periodontal disease should be managed before starting oncology doses of BP or denosumab. Local debridement may be successful in disease unresponsive to conservative therapy. Successful surgical intervention has been reported in those with stage 3 disease; less severe disease is best managed conservatively. Teriparatide may be helpful in healing ONJ lesions and may be considered in osteoporosis patients at a high fracture risk in the absence of contraindications. Resumption of BP or denosumab therapy following healing of ONJ lesions is recommended, and there have not been reports of subsequent local recurrence.


Subject(s)
Bisphosphonate-Associated Osteonecrosis of the Jaw/epidemiology , Bone Density Conservation Agents/adverse effects , Bone Neoplasms/drug therapy , Denosumab/adverse effects , Diphosphonates/adverse effects , Osteoporosis/drug therapy , Osteoporotic Fractures/prevention & control , Periodontal Diseases/epidemiology , Advisory Committees , Anti-Bacterial Agents/therapeutic use , Bisphosphonate-Associated Osteonecrosis of the Jaw/etiology , Bisphosphonate-Associated Osteonecrosis of the Jaw/therapy , Bone Density Conservation Agents/administration & dosage , Debridement , Denosumab/administration & dosage , Diphosphonates/administration & dosage , Dose-Response Relationship, Drug , Fractures, Bone/prevention & control , Humans , Oral Hygiene/methods , Periodontal Diseases/therapy , Practice Guidelines as Topic , Risk Factors , Teriparatide/therapeutic use
19.
J Obstet Gynaecol Can ; 38(12S): S465-S483, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28063558

ABSTRACT

OBJECTIF: Offrir aux fournisseurs de soins de santé des lignes directrices quant à la prévention, au diagnostic et à la prise en charge clinique de l'ostéoporose postménopausique. ISSUES: Stratégies visant à identifier et à évaluer les femmes exposées à des risques élevés; utilisation de la densité minérale osseuse et des marqueurs du renouvellement des cellules osseuses pour l'évaluation du diagnostic et de la réaction à la prise en charge; et recommandations quant à la nutrition, à l'activité physique et au choix du traitement pharmacologique en vue de prévenir l'ostéoporose et d'en assurer la prise en charge. RéSULTATS: La littérature publiée a été récupérée par l'intermédiaire de recherches menées dans MEDLINE et The Cochrane Library le 30 août et le 18 septembre 2012, respectivement, au moyen d'un vocabulaire contrôlé (p. ex. « osteoporosis ¼, « bone density ¼, « menopause ¼) et de mots clés (p. ex. « bone health ¼, « bone loss ¼, « BMD ¼) appropriés. Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais ou en français. Les résultats ont été restreints aux documents publiés à partir de 2009. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu'en mars 2013. La littérature grise (non publiée) a été identifiée par l'intermédiaire de recherches menées dans les sites Web d'organismes s'intéressant à l'évaluation des technologies dans le domaine de la santé et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. VALEURS: La qualité des résultats est évaluée au moyen des critères décrits dans le rapport du Groupe d'étude canadien sur les soins de santé préventifs (Tableau 1). COMMANDITAIRE: La Société des obstétriciens et gynécologues du Canada. RECOMMANDATIONS.


Subject(s)
Bone Density Conservation Agents/therapeutic use , Bone Density/drug effects , Diphosphonates/therapeutic use , Menopause , Osteoporosis, Postmenopausal/drug therapy , Ascorbic Acid/administration & dosage , Canada , Cross-Sectional Studies , Estrogen Replacement Therapy , Female , Humans , Osteoporosis, Postmenopausal/diagnosis , Quebec , Surveys and Questionnaires , Vitamin D/administration & dosage
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