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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the

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… However, they usually cause abnormalities referred to as bone infarcts on long bones (metaphyses or diaphyses) and flat bones, and lesions referred to as avascular necrosis (AVN) on the epiphyses. … When magnetic resonance imaging (MRI) is not available, standard radiographs may be used to observe bone remodeling disorders with enlargement of the metaphyseal/diaphyseal region of the femur’s lower part, referred to as the Erlenmeyer flask bone deformity, appearing during childhood [ 91 ]. …

Bone marrow endosteum in homeostasis and metastasis.

The endosteum is a thin layer of connective tissue lining the inner surfaces of bones adjoining the medullary cavity. The endosteum houses a variety of cells crucial for bone growth, repair and remodelling, including bone-forming osteoblasts, bone-resorbing osteoclasts and their precursor cells. Historically, the endosteum has been extensively studied as a key site for haematopoiesis by which blood cells are incessantly produced. However, recent studies have defined the endosteum as a niche for skeletal stem cells, underscoring the importance of the harmony between the inner endosteum and the

Minimally effective concentration of zoledronic acid to suppress osteoclasts in vitro.

Zoledronic acid is regarded as the most potent bisphosphonate and is widely used in patients with osteoporosis; however, its side effects, including acute-phase reactions, gastrointestinal complaints, renal dysfunction and bisphosphonate-associated osteonecrosis impair the safety and quality of life of patients. The present study was designed to determine the minimal effective concentration of zoledronic acid through testing the dose-dependent effects of zoledronic acid on osteoclast suppression. A primary culture of bone marrow mononuclear cells obtained from C57 mice (age, 6 weeks) was estab

Potential Adverse Effects of Dexamethasone Therapy on COVID-19 Patients: Review and Recommendations.

In the context of the coronavirus disease 2019 (COVID-19) pandemic, the global healthcare community has raced to find effective therapeutic agents against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). To date, dexamethasone is the first and an important therapeutic to significantly reduce the risk of death in COVID-19 patients with severe disease. Due to powerful anti-inflammatory and immunosuppressive effects, dexamethasone could attenuate SARS-CoV-2-induced uncontrolled cytokine storm, severe acute respiratory distress syndrome and lung injury. Nevertheless, dexamethasone tre

The burden of metastatic disease of the femur on the Medicare system.

BackgroundIn the United States, over 1,650,000 new cases of cancer are being diagnosed yearly with almost 50 % of them being the top five bone-seeking cancers. Since cancer risk increases with age, this suggests that orthopedic oncology services may be a strain on the Medicare system. The femur is the most common site of long bone metastases. Prophylactic fixation techniques prevent pathologic fractures, reduce morbidities, and enhance the quality of life of patients with femoral metastases. This study aims to assess the rate of metastatic disease to the skeleton and evaluate the use and finan

Management of Long Bones Metastatic Disease: Concepts That We All Know but Not Always Remember.

Bones are the third most common site of metastatic disease. Treatment is rarely curative; rather, it seeks to control disease progression and palliate symptoms. Imaging evaluation of a patient with symptoms of metastatic bone disease should begin with plain X-rays. Further imaging consists of a combination of (PET)-CT scan and bone scintigraphy. We recommend performing a biopsy after imaging workup has been conducted. Metastatic bone disease is managed with a combination of systemic treatment, radiotherapy (RT), and surgery. External beam RT (EBRT) is used for pain control and postoperatively

Approach to the Patient With Bone Fracture: Making the First Fracture the Last.

The global burden of osteoporosis and osteoporotic fractures will increase significantly as we enter a rapidly aging population. Osteoporotic fractures lead to increased morbidity, mortality, and risk of subsequent fractures if left untreated. However, studies have shown that the majority of patients who suffer an osteoporotic fracture are not investigated or treated for osteoporosis, leading to an inexcusable "osteoporosis care gap." Systematic and coordinated models of care in secondary fracture prevention known as fracture liaison services (FLS) have been established to streamline and impro

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in

Diagnosis and treatment of bone metastasis: comprehensive guideline of the Japanese Society of Medical Oncology, Japanese Orthopedic Association, Japanese Urological Association, and Japanese Society for Radiation Oncology.

Diagnosis and treatment of bone metastasis requires various types of measures, specialists and caregivers. To provide better diagnosis and treatment, a multidisciplinary team approach is required. The members of this multidisciplinary team include doctors of primary cancers, radiologists, pathologists, orthopaedists, radiotherapists, clinical oncologists, palliative caregivers, rehabilitation doctors, dentists, nurses, pharmacists, physical therapists, occupational therapists, medical social workers, etc. Medical evidence was extracted from published articles describing meta-analyses or random

Длинная и извилистая дорога: гомеостатические и беспорядочные микроэкологические ниши: обзор описательной части.

Микроэкологические ниши Haematopoiet были охарактеризованы как "приемники" крови и иммунной системы. Эти ниши меняются во время онтгении, при этом костный мозг становится доминирующим местом гематопоисиса в послеродовой жизни в стабильных условиях. Для определения структуры и функции различных микроэкологических ниш гематопоиета необходимо четко определить конкретные подмножества гематопоиетических стеблей и потомковых клеток во время офгении и понять их временной внешний вид и анатомическое позиционирование. Различные гематопоиетические и негематопоиетические клетки способствуют появлению гем

A Tailored Approach for Appendicular Impending and Pathologic Fractures in Solid Cancer Metastases.

Advances in medical and surgical treatment have played a major role in increasing the survival rates of cancer patients with metastatic bone disease. The clinical course of patients with bone metastases is often impaired by bone complications, such as bone fractures, which have a substantial negative impact on clinical outcomes. To optimize clinical results and prevent a detrimental impact on patients' health, a tailored approach should be defined for any given patient. The optimal management of impending or pathologic fractures is unknown and relies on a multidisciplinary approach to tailor c

Disorders of the Spinal Cord

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The 2024 UK clinical guideline for the prevention and treatment of osteoporosis.

UNLABELLED: The National Osteoporosis Guideline Group (NOGG) has updated the revised UK guideline for the assessment and management of osteoporosis and the prevention of fragility fractures in postmenopausal women, and men age 50 years and older. This guideline is relevant for all healthcare professionals involved in osteoporosis management. INTRODUCTION: The UK National Osteoporosis Guideline Group (NOGG) first produced a guideline on the prevention and treatment of osteoporosis in 2008, with updates in 2013, 2017 and 2021. This paper presents a minor update of the 2021 guideline, the scope

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

INTRODUCTION: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal. OBJECTIVE: To generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence. M

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… In long bones, metaphyseal involvement, diaphyses bowing, significant deformities, and bone fragility can be found (Table 2 ). Thoracic kyphoscoliosis of the spine is also seen [ 2 , 27 , 30 , 31 ]. …

Gaucher disease, state of the art and perspectives.

Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD. Yet, in part because of the rarity of GD, but also because of a lack of awareness by physicians, diagnostic delay too often leads to a belated management of patients having accumulated comorbidities. Gaucher cells, the most visible consequence of glucocerebrosidase deficie

Sternum Metastases: From Case-Identifying Strategy to Multidisciplinary Management.

We aimed to overview the most recent data on sternal metastases from a multidisciplinary approach (diagnosis strategies, outcome, and histological reports). This narrative review based on a PubMed search (between January 2020 and 22 July 2023) using key words such as "sternal", "manubrium", and "metastasis" within the title and/or abstract only included original papers that specifically addressed secondary sternal spreading of cancer in adults, for a total of 48 original articles (14 studies and 34 single case reports). A prior unpublished case in point is also introduced (percutaneous incisio

Does Augmenting Irradiated Autografts With Free Vascularized Fibula Graft in Patients With Bone Loss From a Malignant Tumor Achieve Union, Function, and Complication Rate Comparably to Patients Without Bone Loss and Augmentation When Reconstructing Intercalary Resections in the Lower Extremity?

BACKGROUND: Extracorporeally irradiated autografting is a recognized technique in reconstruction after intercalary resections, but it has drawbacks such as nonunion and graft fracture. Because sterilized autografts lose some of their mechanical properties due to involvement of the cortex with tumor, the curettage, and the adverse effects of irradiation or other sterilization techniques, some have proposed adding vascularized fibula to augment the autograft. Because this potentially adds morbidity, we sought to address the value of adding vascular fibular grafts to reconstruction with irradiate

The role of bone-modifying agents in myeloma bone disease.

Bone disease is common in patients with multiple myeloma (MM), which manifests as bone pain and skeletal-related events (SREs) such as pathological fractures and spinal cord compression. Myeloma bone disease (MBD) can adversely affect the quality of life of patients and have negative effects on morbidity and mortality. The pathogenesis of MBD is complex, and several factors are involved in the dysregulation of bone metabolism and uncoupling of bone remodeling, which result in net bone loss and devastating SREs. Broadly speaking, elevated osteoclast activity, suppressed osteoblast activity, and

Clinical role of bisphosphonate therapy.

Bisphosphonates (BPs) are synthetic analogues of pyrophosphate. They inhibit bone resorption and are therefore widely used in disorders where there are increases or disruptions in bone resorption. This includes postmenopausal osteoporosis, glucocorticoid-induced osteoporosis, Paget's disease of bone, and malignancy-related bone loss. To best understand the clinical application of BPs, an understanding of their pharmacokinetics and pharmacodynamics is important. This review describes the structure, pharmacology and mode of action of BPs, focusing on their role in clinical practice. Controversie

UK clinical guideline for the prevention and treatment of osteoporosis.

UNLABELLED: The National Osteoporosis Guideline Group (NOGG) has revised the UK guideline for the assessment and management of osteoporosis and the prevention of fragility fractures in postmenopausal women, and men age 50 years and older. Accredited by NICE, this guideline is relevant for all healthcare professionals involved in osteoporosis management. INTRODUCTION: The UK National Osteoporosis Guideline Group (NOGG) first produced a guideline on the prevention and treatment of osteoporosis in 2008, with updates in 2013 and 2017. This paper presents a major update of the guideline, the scope