... in majority of medical centers routine x-ray examinations of the bones in these patients is not recommended. The X-ray or computed tomography scan findings of osteitisfibrosacystica include lytic or multilobular cystic changes. Multiple bony lesions representing brown tumors may be misdiagnosed on computed tomography scan as metastatic carcinoma, bone cysts, osteosarcoma, and especially giant-cell tumor.
Muscular and Skeletal Diseases (2), Oncology (1) Hyperparathyroidism (10), Neoplasms (3), Bone Diseases (2), more mentions
... most common grade 1/2 adverse events were bone pain, fatigue, and gastrointestinal toxicities. Alopecia was infrequent AbstractText: In patients with hormone receptor-positive mBC, bone disease, and prior endocrine therapy, first-line oral vinorelbine chemotherapy demonstrated long PFS and good tolerability. In this setting, it could be considered as an active oral alternative to intravenous chemotherapy Keyword: Bone metastases.
Oncology (3), Muscular and Skeletal Diseases (1) Breast Neoplasms (3), Neutropenia (2), Alopecia (1), more mentions
AbstractText: Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA. These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients AbstractText: A retrospective case-control study was performed ...
Muscular and Skeletal Diseases (1) Dwarfism (2), Osteoarthritis (1), more mentions
... studied 11 subjects without tibia pathology and 9 patients with Paget'sdisease of the tibia in biochemical remission after bisphosphonate treatment... In patients without Paget'sdisease [7 men and 4 women; mean age 61.9 years (range ... In patients with Paget'sdisease [4 men and 5 women; mean age 69.5 years (range ...
Muscular and Skeletal Diseases (7) Osteitis Deformans (1), more mentions
Abstract: There is no standard chemotherapeutic treatment for advanced extramammary Paget'sdisease, though the effectiveness of some chemotherapy regimens, including docetaxel, has ... 1 monotherapy was effective in two patients with advanced extramammary Paget'sdisease after docetaxel treatment failure... as the second-line treatment for patients with advanced extramammary Paget'sdisease Keyword: TS-1 monotherapy.
To illustrate the heterogeneous care delivered to patients with Extramammary Paget'sDisease (EMPD), a rare and lethal malignancy with poorly described treatment methodologies, by characterizing the clinical and pathological characteristics of an international patient support group.Institutional review board approval was obtained to develop and distribute a non-validated survey ...
Muscular and Skeletal Diseases (2) Erythema (1), Pruritus (1), more mentions
This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in the thyroid, as well as the controversy surrounding the relative physiological roles of pendrin and anoctamin Keyword: Pendred syndrome. Keyword: congenitalhypothyroidism. Keyword: goiter. Keyword: iodide.
... Our results demonstrated that DI induced an unbalanced remodeling activity and the onset of insulin resistance. This metabolic adaptation was concomitant with higher levels of Glu-OC. This finding confirms the role of bone as an endocrine organ in humans. Furthermore, visfatin for which a great responsiveness was observed could represent an early and sensitive marker of unloading in humans.
Endocrine Disorders (1) Bone Resorption (2), Insulin Resistance (1), more mentions
As the world's population ages, the prevalence of chronic diseases increases. Sarcopenia and osteoporosis are two conditions that are associated with aging, with similar risk factors that include genetics, endocrine function, and mechanical factors. Additionally, bone and muscle closely interact with each other not only anatomically, but also chemically and metabolically. Fat infiltration, a phenomenon observed in age-related bone and muscle loss, is highly prevalent and more severe in sarcopenic and osteoporotic subjects. Clinically, when individuals suffer a combination of both disorders, negative outcomes such as falls, fractures, loss of function, frailty, and mortality increase, thus generating significant personal and socio-economic costs. Therefore, it is suggested that when bone mineral density loss is synchronic with decreased muscle mass, strength, and function, it should be interpreted as a single diagnosis of osteosarcopenia, which may be preventable and treatable. Simple interventions such as resistance training, adequate protein and calcium dietary intake, associated with maintenance of appropriate levels of vitamin D, have a dual positive effect on bone and muscle, reducing falls, fractures, and, consequently, disability. It is essential that fracture prevention approaches-including postfracture management-involve assessment and treatment of both osteoporosis and sarcopenia. This is of particular importance as in older persons the combination of osteopenia/osteoporosis and sarcopenia has been proposed as a subset of frailer individuals at higher risk of institutionalization, falls, and fractures. This review summarizes osteosarcopenia epidemiology, pathophysiology, diagnosis, outcomes, and management strategies.
Muscular and Skeletal Diseases (6) Osteoporosis (5), Sarcopenia (4), Osteopenia (2), more mentions
Abstract: Dermoscopy has been reported to facilitate the diagnosis of extramammary Paget'sdisease (EMPD).(1-3) We report here the first application of dermoscope-guided lesional biopsy to confirm the diagnosis of EMPD. A 60-year-old male presented with a pruritic and painful rash over his left groin region for six months.
Muscular and Skeletal Diseases (2), Oncology (1) Exanthema (1), Neoplasms (1), more mentions
To determine surgical and pathologic variables associated with recurrence in extramammary Paget'sdisease (EMPD).Medical records of patients seeking care for EMPD from 1/1992-9/2015 were reviewed. Follow-up was restricted to 5years following primary surgery. Recurrence-free survival (RFS) was estimated using the Kaplan-Meier method. Risk factors were evaluated for an association with recurrence and positive ...
We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin-Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in KAT6B, c.4572dupT, p.(Thr1525Tyrfs*16). The second patient was ascertained as possible LGS, but KAT6B mutation testing was pursued clinically after the identification of the KAT6B mutation in Patient 1, and identified a de novo mutation, c.4205_4206delCT, p.(Ser1402Cysfs*5). The phenotypic spectrum of KAT6B mutations has been expanding since identification of KAT6B mutations in genitopatellar syndrome (GPS) and Say Barber Biesecker Young Simpson (SBBYS) syndrome patients. We show that craniosynostosis, which has not been previously reported in association with KAT6B mutations, may be part of the genitopatellar/Say Barber Biesecker Young Simpson spectrum. These two patients also further demonstrate the overlapping phenotypes of genitopatellar and SBBYS syndromes recently observed by others. Furthermore, we propose that it is possible that one or more of the previous cases of LGS may have also been due to mutation in KAT6B, and that LGS may actually be a variant within the KAT6B spectrum and not a distinct clinical entity.
Men's Health (1) Craniosynostoses (4), Retrognathia (1), more mentions
Peptide Receptor Radionuclide Therapy (PRRT) may induce long-term toxicity to the bone marrow (BM). The aim of this study was to analyze persistent dysfunction of the hematopoietic system after PRRT with (177)Lu-DOTATATE in patients with gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Methods: The incidence and course of persistent hematological dysfunction (PHD) was analyzed in 274 (=GEP-NET) out of 367 patients with somatostatin receptor-positive tumors. PHD was defined as diagnosis of Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Myelodysplastic/Myeloproliferative neoplasms (MDS/MPN) or otherwise unexplained cytopenia (for more than 6 months). Using data from the Dutch cancer registry, the expected number of hematopoietic neoplasms (MDS, AML, MPN. MDS/MPN) was calculated and adjusted for sex, age and follow-up period. Risk factor assessment was performed in 274 GEP-NET patients with the following risk factors: gender, age over 70 years, bone metastasis, prior chemotherapy, prior external beam radiotherapy, uptake on the OctreoScan®, tumor load, grade 3-4 hematological toxicity during treatment, estimated absorbed BM dose, elevated plasma chromogranin A, baseline blood counts and renal function. Results: We identified 11 (3.7%) out of 274 GEP-NET patients with PHD following treatment with (177)Lu-DOTATATE: 8 (2.9%) patients developed a hematopoietic neoplasm (4 MDS, 1 AML, 1 MPN, 2 MDS/MPN) and 3 (1.1%) patients developed BM failure characterized by cytopenia and BM aplasia. The median latency period at diagnosis (or first suspicion of a hematological disease) for 11 patients was 41 (range 15 - 84) months. The expected number of hematopoietic neoplasms for GEP-NET patients was 3.0 resulting in a relative risk (RR) of 3.6 (CI 1.0 - 13.0). No risk factors for PHD could be identified for the GEP-NET patients, including bone metastasis and estimated BM dose. Seven patients with PHD developed anemia in combination with a rise in mean corpuscular volume (MCV). Conclusion: The prevalence of persistent hematological dysfunction after PRRT with (177)Lu-DOTATATE is 3.7% in our specific patient population. The median time when PHD can develop is 41 months after the first PRRT cycle. The RR for developing a hematopoietic neoplasm is 3.6. No risk factors were identified for developing PHD in GEP-NET patients.
Oncology (7), Blood Disorders and Hematology (2) Neoplasms (5), Hematopoietic Neoplasms (4), Acute Myeloid Leukemia (1), more mentions
AbstractText: Extramammary Paget'sdisease (EMPD) is a rare cutaneous malignancy; however, the standard treatment of EMPD has not been established. In this study, we applied mapping biopsy to penoscrotal EMPD and evaluated its effects AbstractText: A retrospective chart review was performed to determine the outcomes of patients with primary penoscrotal EMPD who underwent surgery at our institution between 2007 and ...
Rarely, GCT could arise in bones affected by Paget'sdisease of bone (GCT/PDB. Although it is already known that GCT/PDB and GCT show a different clinical profile regarding the age-onset and skeletal localization, our deep clinical comparison between the two GCT/PDB and GCT cohorts, permitted us to identify additional differences (e.g.
Muscular and Skeletal Diseases (1), Oncology (1) Giant Cell Tumor of Bone (2), Neoplasms (2), Bone Neoplasms (1), more mentions
The addition of zoledronic acid 4mg per six months to adjuvant endocrine therapy maintained and even increased bone mass during a 3-year treatment period and significantly improved disease-free survival in a population of young women who underwent menopause due to the adjuvant treatment. The major contributor to bone loss in the adjuvant treatment of breast cancer in postmenopausal ...
Oncology (16), Muscular and Skeletal Diseases (8), Women's Health (1) Breast Neoplasms (14), Osteoporosis (3), Neoplasms (1), more mentions