1/6. Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.hajdu-cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. The clinical and radiologic characteristics of hajdu-cheney syndrome develop and progress with age. Many of the medical problems that arise in this syndrome cluster in specific age ranges. case reports of six affected individuals in two additional families and a summary of the English literature is presented with emphasis on the changing physical findings and medical sequelae over time.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Primary hyperparathyroidism mimicking vaso-occlusive crises in sickle cell disease.We report a case of bone pain associated with primary hyperparathyroidism in a patient with sickle cell disease. A 17-year-old girl with sickle cell disease (SS phenotype) was seen for bilateral knee and back pain. She had had recurrent severe vaso-occlusive crises and acute chest syndrome in the course of her disease. In the last 2 years, she had frequent visits to the emergency department for severe bone pain. She complained of long-standing fatigue and lethargy. Her physical examination was normal. hydroxyurea treatment, as well as and long- and short-acting narcotics were given, with little improvement in symptoms. Poor compliance with medication, family dysfunction, and potential narcotic addiction were felt to be significant contributors to the patient's symptoms. She was incidentally found to have an extremely elevated total calcium level of 3.19 mmol/L (range: 2.25-2.76) with an ionized calcium level of 1.9 mmol/L (range: 1.15-1.35). phosphorus level was 0.82 mmol/L (range: 0.90-1.50), alkaline phosphatase level was elevated at 519 U/L (range: 10-170), and parathyroid hormone level was extremely high at 1645 pg/mL (range: 10-60). Her renal function was normal. ultrasonography of the neck and a Sestamibi scan revealed a single left inferior parathyroid adenoma adjacent to the thyroid lobe. There was no evidence of an underlying multiple endocrine neoplasia. The patient was diagnosed with primary hyperparathyroidism. Fluid hydration, hydrocortisone, calcitonin, and bisphosphonates were initiated for acute hypercalcemia management before surgical excision of the left parathyroid adenoma. On review of previous blood work, a borderline calcium level of 2.72 was present 18 months before this admission. Two years postsurgery, she has normal renal function, calcium, and parathyroid hormone levels. The weekly visits to the emergency department for pain episodes decreased to 1 every 2 months within the first few months after her surgery. The decrease in pain episodes, even if it coincided with the treatment of primary hyperparathyroidism, may still reflect the natural evolution of sickle cell disease in this patient. However, the high morbidity associated with primary hyperparathyroidism was successfully prevented in this patient. Primary hyperparathyroidism is rare in childhood. In a recent study, it occurred more commonly in female adolescents and was because of a single adenoma, as in our patient. Significant morbidity, mainly secondary to renal dysfunction, was because of the delay in diagnosis after the onset of symptoms (2.0-4.2 years), emphasizing the need for a rapid diagnosis. Sickle cell disease affects approximately 1 of every 600 blacks in north america. Acute episodes of severe vaso-occlusive crisis account for > 90% of sickle cell-related hospitalizations and are a significant cause of morbidity in patients. There is no known association between sickle cell disease and primary hyperparathyroidism, and this case is most probably a random occurrence. However, as emphasized by this case report, pain may also be a harbinger of other disease processes in sickle cell disease. Because management may vary, we suggest that care providers consider the diagnosis of vaso-occlusive crisis as the diagnosis of exclusion and that other etiologies for pain be envisaged in this patient population, especially in the presence of prolonged pain or unusual clinical, radiologic, or biological findings.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Pseudomalignant heterotopic ossification ("myositis ossificans"). recurrence after excision with subsequent resorption.An eight-year-old boy presented with massive pseudomalignant heterotopic ossification around the upper femur. The mass was completely excised because of severe pain, systemic illness and a flexion contracture at the hip. Symptomatic improvement was swift, but two weeks later the mass had recurred and was even more extensive. During the subsequent 18 months of conservative management he has been free of pain and there has been progressive resorption and remodelling of the heterotopic bone. There is now no limitation of physical activity and movement at the hip is full.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Humoral hypercalcemia of malignancy. Release of a prostaglandin-stimulating bone-resorbing factor in vitro by human transitional-cell carcinoma cells.Secretion by tumor cells of circulating bone-resorbing factors may frequently underlie the hypercalcemia that occurs in patients with malignancy. Efforts to identify the responsible mediators have been hampered by a lack of available human tumor cell systems suitable for study of the pathogenesis of the humoral hypercalcemia syndrome. We have established a transitional-cell carcinoma (TCC) line in vitro from a patient with humoral hypercalcemia. These cells are tumorigenic and cause hypercalcemia in athymic nude mice. culture medium conditioned by TCC cells contains potent bone-resorbing activity in vitro, the physical and biological properties of which are similar to those of bone-resorbing activity present in the original patient's urine. The bone-resorbing activity of the TCC factor is accompanied by increased prostaglandin release from bone and is blocked by indomethacin and calcitonin. The TCC-derived bone-resorbing activity coelutes with prostaglandin-stimulating activity during gel filtration with an approximate molecular weight of 15,000. This activity is nondialyzable, stable to concentrated urea and reducing agents, and destroyed by boiling. The TCC factor does not increase cyclic amp production in bone or kidney bioassays and does not exhibit transforming growth factor activity. We conclude that a unique macromolecular factor released by TCC cells causes bone resorption by a mechanism dependent upon stimulation of bone cell cyclooxygenase, and that this factor is the probable cause of the hypercalcemia in vivo. The TCC cell line provides a new model for study of the human humoral hypercalcemia syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Rapidly progressive periodontitis. Report of a case.A nineteen year old white female was referred for an evaluation of severe, rapidly progressive periodontitis. Although the patient was physically healthy and did not demonstrate any remarkable abnormalities in routine laboratory tests or upon physical examination, a detailed immune profile elucidated abnormal findings. Additionally, the patient demonstrated a poor healing response after tooth removal and a continued loss of bone following insertion of dentures.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/6. osteonecrosis and resorption of the patella after total knee replacement: a case report.A 54-year-old woman with a history of right total knee replacement had right knee pain and swelling for 6 months. Radiographs of the knee showed significant fragmentation and resorption of the patella consistent with osteonecrosis. Evidence of increased anteroposterior laxity was noted on physical examination. Revision surgery to a posterior stabilized prosthesis with excision of the patellar fragments resulted in a marked improvement in her symptoms and functional capabilities 2 years after surgery. The authors review the blood supply to the patella and how it may be disturbed by knee surgery and speculate that this patient's symptoms may have been worsened by the anteroposterior instability of her prosthesis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |