Persistent hypercalcaemia associated with two pathogenic variants in the gene and a parathyroid adenoma-a case report and review.

Introduction: 24-Hydroxylase, encoded by the gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in result in PTH-independent hypercalcaemia with high levels of 1,25(OH)D. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild.

Management of hypoparathyroidism: a Position Statement of the Expert Group of the Polish Society of Endocrinology.

Over the past few years, there have been significant advances in our understanding of hypoparathyroidism (HypoPT) in terms of its epidemiology, clinical presentation, etiology, and skeletal and renal complications. Moreover, the available treatment options for HypoPT have changed. This position statement of the Expert Group of the Polish Society of Endocrinology summarizes the current state of knowledge and provides recommendations for optimal management to assist clinicians in the diagnosis, treatment, and monitoring of HypoPT in Poland.

Guidelines for the diagnosis and management of osteoporosis in Poland. Update 2022.

Guidelines to provide an update of the previously published Polish recommendations for the management of women and men with osteoporosis have been developed in line with advances in medical knowledge, evidence-based data, and new concepts in diagnostic and therapeutic strategies. A Working Group of experts from the Multidisciplinary Osteoporosis Forum and from the National Institute of Geriatrics, Rheumatology, and Rehabilitation in Warsaw performed a thorough comprehensive review of current relevant publications in the field (including all age groups of people and management of secondary osteoporosis), and they evaluated epidemiological data on osteoporosis in Poland and the existing standards of care and costs. A voting panel of all co-authors assessed and discussed the quality of evidence to formulate 29 specific recommendations and voted independently the strength of each recommendation.

Guidelines for Preventing and Treating Vitamin D Deficiency: A 2023 Update in Poland.

All epidemiological studies suggest that vitamin D deficiency is prevalent among the Polish general population. Since vitamin D deficiency was shown to be among the risk factors for many diseases and for all-cause mortality, concern about this problem led us to update the previous Polish recommendations. After reviewing the epidemiological evidence, case-control studies and randomized control trials (RCTs), a Polish multidisciplinary group formulated questions on the recommendations for prophylaxis and treatment of vitamin D deficiency both for the general population and for the risk groups of patients.

The Effect of a Single High Dose of Vitamin D on Serum Levels of Its Metabolites in the Elderly.

Background: Vitamin D is a dietary micronutrient responsible for calcium and phosphorus metabolism and multiple extraskeletal actions. The assessment of vitamin D status is commonly based on measurement of 25(OH)D total concentration in serum. However, the usage of liquid chromatography with tandem mass spectrometry (LC-MS/MS) technique allows to reliably assess a panel of vitamin D metabolites in serum or plasma, which may help to investigate the metabolic paths of vitamin D, especially in populations at risk of deficiency.

Osteitis Fibrosa Cystica.

Osteitis fibrosa cystica is a rare presentation of both primary and secondary hyperparathyroidism. In this perspective, we provide a historical backdrop to this form of parathyroid disease and contend that this clinical presentation of excess parathyroid hormone, particularly in primary hyperparathyroidism, is still seen today. In view of its rarity and the way it typically presents, the diagnosis of metastatic cancer is often the first diagnostic impression.

Osteitis fibrosa cystica-a forgotten radiological feature of primary hyperparathyroidism.

Unlabelled: Although bone disease and stone disease are the universally accepted classical manifestations of primary hyperparathyroidism, clinical parathyroid bone disease is rarely seen today in the United States (<5% of patients) and Western Europe. Nevertheless, in a given patient, classical skeletal involvement can be the first sign of primary hyperparathyroidism, but not recognized because it is not usually included, anymore, in the differential diagnosis of this manifestation of skeletal disease. We describe four cases of primary hyperparathyroidism in which the first clinical manifestation of the disease was a pathological fracture that masqueraded as a malignancy.

Osteoporosis in men.

Osteoporotic fractures are the leading cause of morbidity and mortality among aging men. 30% of all hip fractures occur in men, and mortality resulting from not only the hip fracture, but also the spine and other major osteoporotic fractures, is significantly higher in men than in women. As in women, hypogonadism is the best documented risk factor for developing osteoporosis in men.

Cinacalcet as symptomatic treatment of hypercalcaemia in primary hyperparathyroidism prior to surgery.

Intriduction: The aim of presented study was to assess the efficacy of cinacalcet in reducing serum calcium concentrations in primary hyperparathyroid (PHPT) patients with hypercalcaemia exceeding 12.5 mg/dL, awaiting parathyroidectomy.

Material And Methods: The study included 23 patients with PHPT with hypercalcaemia > 12.

Vitamin D supplementation guidelines.

Research carried out during the past two-decades extended the understanding of actions of vitamin D, from regulating calcium and phosphate absorption and bone metabolism to many pleiotropic actions in organs and tissues in the body. Most observational and ecological studies report association of higher serum 25-hydroxyvitamin D [25(OH)D] concentrations with improved outcomes for several chronic, communicable and non-communicable diseases. Consequently, numerous agencies and scientific organizations have developed recommendations for vitamin D supplementation and guidance on optimal serum 25(OH)D concentrations.

Cinacalcet normalizes serum calcium in a double-blind randomized, placebo-controlled study in patients with primary hyperparathyroidism with contraindications to surgery.

Objective: Primary hyperparathyroidism (PHPT) is diagnosed by the presence of hypercalcemia and elevated or nonsuppressed parathyroid hormone (PTH) levels. Although surgery is usually curative, some individuals fail or are unable or unwilling to undergo parathyroidectomy. In such individuals, targeted medical therapy may be of value.

Denosumab for treatment of hypercalcemia of malignancy.

Context: Hypercalcemia of malignancy (HCM) in patients with advanced cancer is often caused by excessive osteoclast-mediated bone resorption. Patients may not respond to or may relapse after iv bisphosphonate therapy.

Objective: We investigated whether denosumab, a potent inhibitor of osteoclast-mediated bone resorption, reduces serum calcium in patients with bisphosphonate-refractory HCM.

Polish guidelines for the diagnosis and management of osteoporosis: a review of 2013 update.

To decrease the risk of osteoporotic fractures in Poland, the Multidisciplinary Osteoporotic Forum has set up a joint Working Group including the representatives of the Polish Associations of Orthopedics and Traumatology, Rehabilitation, Gerontology, Rheumatology, Family Medicine, Diabetology, Laboratory Diagnostics, Andropause and Menopause, Endocrinology, Radiology, and the STENKO group as well as experts in the fields of rheumatology, obstetrics, and geriatrics to update the Polish guidelines for the diagnosis and management of osteoporosis in men and postmenopausal women in Poland. The assessment of fracture risk and intervention thresholds was made using the FRAX® calculation tool for Poland. The strength of recommendations was evaluated according to the principles of the Scottish Intercollegiate Guidelines Network and the results have been approved by national consultants.

FGF23 Producing Mesenchymal Tumor.

A 40-year-old patient was referred to Clinic of Endocrinology due to hypophosphatemia causing pain, cramps, and weakness of muscles. Moreover, his bone mineral density was very low. The previous treatment with phosphorus and active vitamin D metabolites was ineffective.

Practical guidelines for the supplementation of vitamin D and the treatment of deficits in Central Europe - recommended vitamin D intakes in the general population and groups at risk of vitamin D deficiency.

Introduction: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium-phosphate metabolism as well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activity appear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest that Vitamin D deficiency is prevalent among Central European populations.

Denosumab for patients with persistent or relapsed hypercalcemia of malignancy despite recent bisphosphonate treatment.

Hypercalcemia of malignancy (HCM), caused primarily by tumor-induced bone resorption, may lead to renal failure, coma, and death. Although HCM can be treated with intravenous bisphosphonates, patients may not respond or may relapse on therapy. Denosumab binds the bone resorption mediator RANKL.

[Parathyroid hormone and its analogues - molecular mechanisms of action and efficacy of osteoporosis therapy].

Most medical agents currently applied in osteoporosis therapy act by inhibiting bone resorption and reducing bone remodelling, i.e. they inhibit the process of bone mass loss by suppressing bone resorption processes.

Parathyroid hormone and its analogues--molecular mechanisms of action and efficacy in osteoporosis therapy.

Most medical agents currently applied in osteoporosis therapy act by inhibiting bone resorption and reducing bone remodelling, i.e. they inhibit the process of bone mass loss by suppressing bone resorption processes.

Critical points in strategies for the diagnosis and treatment of osteoporosis.

Current treatment decisions for osteoporosis depend on the fracture risk calculated based on the results of comprehensive diagnostic procedures [clinical risk factors (CRF), densitometry (BMD), morphometry, and bone turnover markers (BTM)]. Recently developed fracture risk assessment tool (FRAX) represents an important new achievement as a 10-year fracture risk calculation based on femoral neck densitometry and age combined with independent clinical fracture risk factors. FRAX presents several options: FRAX BMI (body mass index) is advocated as a helpful screening tool to identify the group of patients with high fracture risk, independently of access to densitometry and FRAX, utilizing hip densitometry.