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Exploring the genetic alterations of Gorham-Stout disease.

The "vanishing bone disease" or Gorham-Stout disease (GSD) is a very rare disorder characterized by massive lymphatic and angiomatous proliferation accompanied by progressive osteolysis, without the deposition of new bone matrix. Because of its rare and complex clinical features, diagnosis is challenging and its etiopathogenesis is not completely known; the genetic basis of GSD has been hypothesized and different mutations have been reported in patients. Our review aims to describe all these genetic alterations found in GSD patients and their association with clinical features. The identificat

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… They also identified the ribs as the most commonly affected site in both groups, followed by the cranium, clavicle, and cervical spine in GSD, while the thoracic spine, humerus, and femur were most frequent in GLA. Additionally, GSD typically involves fewer bones than GLA ( 9 ) ( Figure 1 ). … | GATA2 | c.379C>A | p.His127Asn | Cardiac tamponade Lytic lesions in the cervical and thoracic vertebrae Fracture of T4 vertebra | Uncertain significance | n/a ( 77 ) ( 87 ) | KRAS | c.182A>G c.35G>T | p.Gln61Arg p.Gly12Val | Osteolysis of the right maxilla and of skull base Lytic lesions of right clavicle …

Multiple Bone Metastases as the First Manifestation of Hepatocellular Carcinoma in Patient with Noncirrhotic Liver.

Hepatocellular carcinoma (HCC) generally occurs on the background of chronic liver disease. Chronic hepatitides B and C and alcoholic liver disease are well-known risk factors for HCC, and it is uncommon in noncirrhotic liver. Extrahepatic metastasis seldom occurs in patients with early stage intrahepatic HCC and isolated bone metastases as a first documented extrahepatic metastasis is unusual presentation. In this report, we present a rare case of small solitary HCC (<3 cm) in noncirrhotic liver, presenting isolated bone metastases as a sole manifestation in patient with no well-known risk fa

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… In chest CT, multiple bone metastases were shown in sternum, right clavicle, right 11th rib, and thoracic spines. However, there was no abnormal finding to suspect primary cancer. …

Успешное лечение множественной миеломы SARS-CoV-2 Инфекция: Отчёт по делу.

С момента объявления болезни коронавируса 2019 (В тыс.COVID-19) Пандемия в конце 2019, COVID-19 по-прежнему является глобальной проблемой. Пожилые пациенты, страдающие гематологическими расстройствами, имеют иммунокомпромиссные заболевания и, таким образом, весьма восприимчивы к ним. COVID-19 инфекция и острый острый респираторный синдром (САРС), что создает значительные клинические проблемы. В настоящем докладе содержится описание диагноза и лечения пациента с множественной миеломой (ММ), который SARS-CoV-2 Мы собрали общую информацию о пациентах, клинические характеристики, лабораторные резу

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… Chest CT showed changes in the sternum, bilateral clavicle, scapulae, ribs, and thoracolumbar vertebrae, with pathological fractures noted in bilateral ribs (Figure 1 (7.17)). …

Secondary Hyperparathyroidism Presenting as a Brown Tumor: A Case Report and Review of the Literature.

Severe secondary hyperparathyroidism in advanced stages of chronic kidney disease (CKD) is associated with CKD-related mineral and bone disease (CKD-MBD). A 70-year-old woman was admitted at the Hospital for generalized bone pain and peripheral edema. Initial laboratory tests revealed normocytic anemia and severe renal dysfunction, and further tests evidenced severe secondary hyperparathyroidism. Full-body computerized tomography showed an osteolytic lesion in the right iliac wing. The iliac bone lesion was biopsied and histological examination was consistent with the diagnosis of a brown tumo

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… Most brown tumors affect the axial skeleton, namely the jaw, ribs, clavicles, and pelvis, but they can virtually affect any human bone [ 6 - 10 , 14 ]. Symptoms are rare but can arise from the compression of surrounding structures [ 14 ]. …

Accuracy of artificial intelligence in detecting tumor bone metastases: a systematic review and meta-analysis.

BackgroundBone metastases (BM) represent a prevalent complication of tumors. Early and accurate diagnosis, however, is a significant hurdle for radiologists. Recently, artificial intelligence (AI) has emerged as a valuable tool to assist radiologists in the detection of BM. This meta-analysis was undertaken to evaluate the AI diagnostic accuracy for BM.MethodsTwo reviewers performed an exhaustive search of several databases, including Wei Pu (VIP) database, China National Knowledge Infrastructure (CNKI), Web of Science, Cochrane Library, Ovid-Embase, Ovid-Medline, Wan Fang database, and China

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… lung (44), kidneys (21), thyroid gland (12), bladder (9), others (16) | peripheral skeleton | radiology, nuclear medicine | 102 | 70 | 40 | 60.2 | 172 | 120 | 52 | NR | 7:3:NR Noguchi | 2022 | Japan | lung (57), prostate (33), breast (25), others (54) | vertebra, Pelvis, rib, scapula, limb, sternum, clavicle … 1375 | 1375 | 75 | 49 | 55:3:2 Liu | 2021 | China | prostate (230) | pelvic | biopsy | 168 | 166 | NR | 61.6 | 334 | 266 | 34 | 34 | 8:1:1 Koike | 2023 | Japan | NR | spine | MR images | 79 | 42 | 69.2 | 2125 | 1782 | 343 | NR | 8:2:NR Huo | 2023 | China | lung (126) | spine, pelvis, limb, sternum, clavicle …

Long-Term Management of Breast Cancer Bone Metastases: Two Case Reports.

Patients with advanced HR+/HER2- breast cancer often experience prolonged disease courses, with bone being a dominant site of metastasis. Bone-targeted agents (BTAs) are recommended to reduce the risk of skeletal-related events (SREs), yet most clinical trials report follow-up durations of less than 2 years. Here, we present two cases of patients with breast cancer and bone metastases who received continuous BTA therapy for 8 and 10 years, respectively, in the context of ongoing antitumor treatment. Neither patient developed SREs during follow-up. The two cases demonstrated good tolerabilit du

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… By January 2022, CT revealed multiple osteogenic metastases in the thoracic and lumbar vertebrae, ribs, sternum, scapulae, and left clavicle ( Figure 4 ). Liver metastasis was confirmed by MRI and biopsy in February 2022. …

The Debut Signal of Bone Metastasis and Stealthy Gastric Cancer Unmasked in a Young Male: A Case Report.

Gastric cancer is the fifth leading cause of cancer-related deaths in the world. The occurrence of bone metastases (BM) in gastric cancer without prior gastrointestinal (GI) symptoms is a rare phenomenon that has been sporadically documented in the existing literature. We report a case of a 27-year-old male presenting with chief complaints of severe backache for one month. After an upper gastrointestinal endoscopy and biopsy, the primary source of cancer was identified as a solitary gastric adenocarcinoma, supporting the diagnosis of bony metastases on the magnetic resonance imaging (MRI) of t

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… According to Choi et al. [ 15 ], the vertebrae (66%), pelvic bone (43%), costa (59%), femur (30%), and scapula and clavicle (17%) were the most common sites of metastasis. …

A new therapeutic approach in Gorham-Stout disease: a case report.

BackgroundGorham-Stout disease is a rare condition of unknown prevalence and unknown exact cause. Its pathogenesis is based on enhanced osteoclastic activity leading to bone resorption and bone replacement by distended lymphatic vessels. Because of its rarity and a various range of symptoms the disease may give, diagnosis is challenging and a strong index of suspicion is required. Although it is a benign condition, the prognosis may be unpredictable. The treatment options suggested so far are limited, and every case should be provided with the best individual approach. Herein, we present a cas

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… On physical examination, a large round lump on the left side of neck above the clavicle was noticed ( Figure 1A ). It was about 10 cm in diameter, soft on palpation, but firmly attached to the underlying tissue. The skin overlying the mass was normal with no redness or edema. …

Effective Pain Control With Very Low Dose Palliative Radiation Therapy for Patients With Multiple Myeloma With Uncomplicated Osseous Lesions.

BACKGROUND: Osteolytic lesions are present in 75% of patients with multiple myeloma (MM) and frequently require palliation with radiation therapy (RT). Prior case series of patients with MM with bone pain undergoing palliative RT suggests doses ≥12 Gy (equivalent dose in 2Gy fractions, EQD2) provide excellent bone pain relief. However, recent advances in care and novel biologic agents have significantly improved overall survival and quality of life for patients with MM. We hypothesized that lower-dose RT (LDRT, EQD2 <12 Gy) offers an effective alternative to higher-dose RT (HDRT, EQD2 ≥12 Gy)

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… | HDRT (N = 48 sites) | LDRT (N = 22 sites) | N (%) | Location | | Spine | 11 (22.9) | 6 (27.2) Pelvis | 5 (10.4) | 3 (13.6) Leg | 7 (14.6) | 4 (18.2) Rib/chest wall | 9 (18.8) | 4 (18.2) Arm | 6 (12.5) | 2 (9.1) Clavicle | 5 (10.4) | 1 (4.5) Skull | 3 (6.3) | 1 (4.5) Shoulder | 2 (4.2) | 1 (4.5 …

Radiation therapy for secondary cutaneous plasmacytomas.

We are reporting a case of a 75-year-old man with multiply recurrent IgA-lambda multiple myeloma status post multiple rounds of chemotherapy, autologous stem cell transplantation, and palliative radiation therapy for diffuse bone lesions. Approximately 15 years after original diagnosis, he developed secondary cutaneous plasmacytomas of the right arm, right chest wall, and right upper back over the course of several months. He underwent palliative involved field 3D conformal photon or en face electron therapy concurrently with various chemotherapy regimens and achieved good to complete response

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… During this time he completed a course of palliative EBRT to the proximal left clavicle (3000 cGy in 15 fractions) in September 2012 with resolution of pain and decrease in swelling at that site. …

Modular prostheses in the treatment of proximal humerus metastases: review of 40 cases.

BACKGROUND: The humerus is the second most common site of metastatic bone disease involving long bones. Tumors which have a predilection for dissemination to bone are those of breast, prostate, thyroid, lung and kidney. The rationale for surgical treatment of these lesions is to prevent or treat pathological fractures in order to relieve pain and improve function. MATERIALS AND METHODS: Forty patients who had resection of the proximal humerus for metastatic bone disease and reconstruction with a modular prosthesis were retrospectively reviewed. RESULTS: Mean functional outcome was 73.1% (Enn

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… metastatic lesion Primary tumor with good prognosis Interval over 3 years since detection of the primary tumor 2 | Pathological fracture at any site 3 | Impending fracture in a major long bone 4 | Osteoblastic lesions at all sites Osteolytic or mixed lesions in non-structural bones (fibula, rib, sternum, clavicle …

New agents in the Treatment of Myeloma Bone Disease.

Patients with multiple myeloma develop a devastating bone disease driven by the uncoupling of bone remodelling, excess osteoclastic bone resorption and diminished osteoblastic bone formation. The bone phenotype is typified by focal osteolytic lesions leading to pathological fractures, hypercalcaemia and other catastrophic bone events such as spinal cord compression. This causes bone pain, impaired functional status, decreased quality of life and increased mortality. Early in the disease, malignant plasma cells occupy a niche environment that encompasses their interaction with other key cellula

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… bone disease, leading to potential serious consequences. a Lytic lesion penetrating through the ischium (green arrow). b Multiple lytic lesions throughout the scapula (green arrows) with the acromion completely destroyed by myeloma bone disease (red arrow). c Example of normal bone from the shoulder, clavicle … The acromion process is destroyed (red arrow), multiple lytic lesions are present throughout the clavicle (green arrow) and the anterior ribs have been destroyed (purple arrow) (Color figure online) Osteoclastic Bone Resorption is Increased in Myeloma The balance between osteoblasts and osteoclasts …

Pharmacological interventions for the prevention of bleeding in people undergoing definitive fixation or joint replacement for hip, pelvic and long bone fractures.

BACKGROUND: Pelvic, hip, and long bone fractures can result in significant bleeding at the time of injury, with further blood loss if they a … definitive fixation of hip, pelvic, and long bone (pelvis, tibia, femur, humerus, radius, ulna and clavicle) fractures only. There were no restrictions on gender, ethnicity, or age. We excluded planned (elective) procedures (e.g. scheduled total hip arthroplasty), and studies published since 2010 that had not been prospectively registered. Eligible interv …

HERV Dys Regulation в деле Myalgic Encephalomyelitis и Multic Sclerosis Responsive to Rituximab.

В этой статье резюмируется случай, когда 30-летний мужчина диагностировал синдром мальгического энцефаломелита/хронического утомительного синдрома (ME/CFS) и его продольный слежение, в результате чего через восемь лет был диагностирован множественный склероз (MS). Наиболее ощутимым результатом стала его реакция на ритуксимаб после систематического отказа в предварительном лечении. Хотя выражение эндогенных ретровирусных белков ассоциируется с автоиммунитетом, пациент не продемонстрировал более широкое выражение токсичного белка HERV (человеческий ретровирус)-W ENV, который является целью текущ

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… Additionally, he had sustained sport injury fractures in his right/left 5th metacarpal and his clavicle earlier that year, followed by a bimalleolar ankle fracture in 2010, at age 20. Throughout this period, cognitive fatigue was his predominant symptom, significantly impacting his daily life. …

Bortezomib, Bendamustine and Dexamethasone vs Thalidomide, Bendamustine and Dexamethasone in Myeloma patients presenting with renal failure (OPTIMAL): a randomised, multi-centre phase II trial.

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… | No | 6 | 37 | 5 | 33 | 11 | 35 Yes | 8 | 50 | 9 | 60 | 17 | 55 Missing | 2 | 13 | 1 | 7 | 3 | 10 Type of bone disease | Vertebral fractures | 3 | 20 | 4 | 27 | 7 | 28 Lytic lesions | 6 | 38 | 6 | 40 | 12 | 48 Fractured rib | 1 | 6 | 1 | 7 | 2 | 8 Osteoporosis/osteopenia | 2 | 13 | 1 | 7 | 3 | 12 Clavicle …

Tumors of the Acromion Process-A Pictorial Review.

Introduction Acromion is essential for stabilizing the shoulder complex. Tumors of the acromion are rare. We report the largest series of acromion tumor and tumor-like lesion. Materials and Methods A retrospective review of the oncology and radiology database within our tertiary center for orthopaedic oncology was performed to identify all tumors of the acromion over the past 30 years and imaging was reviewed. Results We identified a total of 31 lesions arising in the acromion and chondrosarcoma was the commonest. Conclusion One needs to be aware of tumor and tumor-like lesions of acromion.

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… Discussion Anatomy The acromion is a large, flat bony anatomical structure that arises from the lateral end of the spine of the scapula and projects anteriorly to articulate with the lateral end of the clavicle. In the adult, it measures ∼2.5 cm in width and is roughly 5 cm long. …

Outcomes of Percutaneous Stabilization for Pelvic Metastatic Bone Disease: A Systematic Review and Meta-Analysis.

BACKGROUND/OBJECTIVES: Metastatic bone disease (MBD) of the pelvis is commonly managed with open reconstruction despite substantial morbidity and high complication rates ranging from 16-32%. Percutaneous fixation techniques have emerged as a lower morbidity alternative; however, robust evaluations of outcomes remain limited. Therefore, the primary aim of this systematic review was to evaluate changes in pain and function following percutaneous fixation for pelvic MBD, and to determine the complication and reoperation rates of these procedures. METHODS: A systematic review and meta-analysis wa

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… . | All pelvic bones | Sacrum (38) Proximal femur (7) Scapula (5) Spine (4) Sternum (1) Clavicle (1) Mandible (1) | Impending, pathologic, or insufficiency fracture | Both screw types Bertholon (2022) [ 32 ] | 2 | Prospective cohort | France | 11 | – | Ilium, pubis | Proximal femur (1) Odontoid (1) | … There were 12 studies that included lesions in locations other than the pelvis such as the sacrum, femur, scapula, spine, sternum, clavicle, mandible, shoulder, tibia, and calcaneus. …

Definition and management of very high fracture risk in women with postmenopausal osteoporosis: a position statement from the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Association of Bone Assessment and Metabolism (ABRASSO).

Several drugs are available for the treatment of osteoporosis in postmenopausal women. Over the last decades, most patients requiring pharmacological intervention were offered antiresorptive drugs as first-line therapy, while anabolic agents were considered a last resource for those with therapeutic failure. However, recent randomized trials in patients with severe osteoporosis have shown that anabolic agents reduce fractures to a greater extent than antiresorptive medications. Additionally, evidence indicates that increases in bone mineral density (BMD) are maximized when patients are treated

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… years | 11.3% (24 months) | Vertebral (17.6%) > hip (13.7%) > humerus (11.4%) > wrist, forearm, and others (data not shown) Adachi (Canada), 2021( 29 ) | 115,776 ≥65 years | 17.8% (median time 555 days) | Vertebral (23%) > pelvis (21.3%) > radius/ulna (20.2%) > multisite (20.1%) > humerus (18.9%) > clavicle … /ribs/sternum (18.7%) > wrist (17.7%) > femur (16.0%) > hip (15.9%) > tibia/fibula/knee (13.4%) Balasubramanian (US), 2019 ( 30 ) | 210,621 ≥65 years | 17.9% (2 years) | Spine (25.5%) > pelvis (20.2%) > clavicle (18.3%) > humerus (15.7%) > hip (15.0%) > femur (13.9%) > radius/ulna (13.9%) > tibia/fibula …

Primary hyperparathyroidism-induced brown tumors caused by parathyroid carcinoma: a case report and literature review

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… hyperparathyroidism (SHPT), 1 while this tumor-like lesion that represents the terminal stage of the bone remodeling process in prolonged HPT is much rarer with an overall incidence of between 2% and 3%. 2 Bone remodeling disorders can occur in any part of the skeleton, 3 mainly in the jaws, ribs, clavicle …

The impact of incident vertebral and non-vertebral fractures on health related quality of life in postmenopausal women.

BACKGROUND: Little empirical research has examined the multiple consequences of osteoporosis on quality of life. METHODS: Health related quality of life (HRQL) was examined in relationship to incident fractures in 2009 postmenopausal women 50 years and older who were seen in consultation at our tertiary care, university teaching hospital-affiliated office and who were registered in the Canadian Database of Osteoporosis and Osteopenia (CANDOO) patients. Patients were divided into three study groups according to incident fracture status: vertebral fractures, non-vertebral fractures and no fract

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… Incident non-vertebral fractures included the ankle, arm, clavicle, elbow, heel, hip, knee, leg, nose, pelvis, rib, shoulder, sacrum, and wrist. Group III: patients who did not report an incident fracture. …