Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
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Osteomalacia is characterized by large osteoid seams and a preserved volume of bone trabeculae. The mineralization of newly formed bone requires adequate concentrations of calcium and phosphate: the Ca.P product has been regarded as a useful, empirical diagnostic test of osteomalacia. It decreases in patients with osteomalacia mainly because they have very low plasma phosphate levels. At present total body bone mineral and total body bone density can be directly measured by whole body absorptiometry, which indicates the lowest total mineral content of the skeleton which can increase quickly after adequate treatment. The main symptoms of osteomalacia are: bone pain; muscular weakness (commonly as pelvic girdle myopathy); Looser-Milkman pseudofractures or more often a pattern of generalized demineralization at X-ray. The main biochemical parameters in osteomalacia include: defective calcium absorption with hypocalcemia and hypocalciuria; defective intestinal phosphate absorption with hypophosphatemia; there is often increased renal phosphate clearance due to hypocalcemia and secondary hyperparathyroidism; elevated alkaline phosphatase and osteocalcin levels; high bone turnover confirmed by kinetic studies carried out with radiocalcium or 99mTc-MDP. An etiological classification of the osteomalacias includes: 1) nutritional osteomalacia: a) inadequate exposure to sunlight and/or insufficient vitamin D intake; b) defective intestinal absorption of vitamin D because of malabsorption syndromes (e.g. jejuno-ileal bypass for obesity).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The osteomalacias. 166 41

Naviculo-cuneiform coalition is a very rare condition and has only been reported by Lusby and Miki. We hereby describe three cases of this condition. The chief complaint was mild pain in the midfoot region especially after physical activity. There were no detectable deformities such as calcaneo-valgus, flatfoot or peroneal spastic foot, moreover the range of motion of the subtalar joint appeared to be normal. Conventional tomography confirmed coalition in two out of our three cases. 99mTc-MDP bone scintigraphy may be useful as a screening procedure. In past the pain associated with tarsal coalition was considered to result from the decreased range of motion in the fused joint due to ossification. However, our study have indicated that pain appeared to originate from the weakness of the cartilagenous bridges relative to the weight-bearing force over the naviculo-cuneiform joint.
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PMID:Naviculo-cuneiform coalition--report of three cases. 231 90

Acute toxicity of N2-[(N-acetylmuramoyl)-L-alanyl-D-isoglutaminyl]-N6-stearoyl-L-lysine (MDP-Lys(L18), muroctasin), a synthetic muramyl dipeptide derivative, was studied in Std-ddy mice, Std-Wistar rats and beagle dogs by subcutaneous and intravenous administration. Subcutaneous LD50 values were 436 mg/kg for male, 625 mg/kg for female in mice, 761 mg/kg for male, 801 mg/kg for female in rats and more than 200 mg/kg for dogs. Toxic signs included screaming, decrease of locomotor activity, weakness, emaciation and loss of hair, crust formation, necrosis and ulceration around the injection site in all species. Death occurred within 7 days after treatment. Pathological examination revealed inflammation around the injection site. In dogs a subcutaneous cavity with puruloid fluid and enlargement of the axillary lymphnodes were seen in addition. No marked toxic signs and pathological findings were observed in mice and rats after intravenous administration of 90 mg/kg, a critical dose of treatment.
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PMID:Acute toxicity of muroctasin in mice, rats and dogs. 319 Jul 94

Cammurati-Engelmann's Disease or Progressive Diaphyseal Dysplasia (PDD), is a rare autosomal dominant disorder, sometimes non hereditable, which begins in childhood, and is characterized by symmetrical excess of osseous apposition in diaphysis and metaphysis of long bones. In severe cases skull and vertebrae could be involved. Clinically, patients refer limb pain, muscular weakness and atrophy, easy fatigability and waddling gait. Later on S. Ribbing described an illness that he thought was a separate entity with sclerosis and enlargement of diaphysis of femora and tibiae, which begins after puberty, is less extensive, not always symmetric and without gait or neurological involvement. Some authors think it may be an adult form of the PDD. As no specific treatments are available we report one case of each entity, treated with the bisphosphonate pamidronate, by the oral route. A white female, 69 years old, with clinic and radiology of Ribbing's Disease, had positive scintigraphy in the affected areas and elevated bone biochemical markers: Serum alkaline phosphatase (SAP): 57 UKA. Total urinary hydroxyproline (THP): 60 mg/24 h. Bone Gla protein (BGP): 40 ng/ml. Considering the high bone turnover treatment with oral pamidronate, 400 mg/day plus Calcium 1g/day was started, dose was then progressively reduced. After two months pain almost disappeared, and THP became normal: 14 mg/24 h; with normalization of BGP values: 8 ng/ml, and a decrease of SAP: 21 UKA, 99mTc MDP uptake by affected bones decreased after 1 year of treatment. Because of these results we decided to begin treatment in a white female 17 years old, 32 kg weight, 1.47 m height with PDD characteristics and also a high bone turnover (THP: 95 mg/24 h. SAP: 32 UKA). After six months of Calcium 1 g/day, given with meals, and oral pamidronate 100 mg/day, she became painless with normal strength and gait, almost normalization of THP (48 mg/24 h). Although a small decrease of SAP, and no charges in scintigraphy. These results obtained with pamidronate suggest that it may be useful to treat dysplasias with high bone turnover.
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PMID:[Clinical, humoral and scintigraphic assessment of a bisphosphonate as potential treatment of diaphyseal dysplasia: Ribbing and Cammurati-Engelmann diseases]. 956 56

We studied the effectiveness of 99mTc-MDP (methylendiphosphate) scintigraphy in imaging inflammatory myopathy. The three subjects including 1 male and 2 female patients had high creatine kinase (CK) levels and proximal dominant muscle weakness. In whole body muscle surveillance by 99mTc-MDP scintigraphy, abnormal 99mTc-MDP accumulation was found in the extremities of all patients. The sites with high 99mTc-MDP accumulation showed high intensity on T2 weighted MR imaging, suggesting an inflammatory process. Muscle biopsy was performed on two patients from the muscles with the abnormal MRI findings, which showed the diagnostic finding of inflammatory changes. Because muscle involvement in inflammatory myopathy differs from muscle to muscle, it is sometimes difficult to choose appropriate muscle biopsy sites for diagnostic purposes. Affected muscles are more easily identified by using 99mTc-MDP muscle scintigraphy and muscle MRI, therefore, a correct diagnosis and choice of biopsy site can be made. 99mTc-PYP scintigraphy is permitted for use in myocardial infarction alone and 111In-antimyosin scintigraphy is not available in Japan. Therefore, we recommend 99mTc-MDP scintigraphy for diagnosis of inflammatory myopathy and for determination of muscle biopsy sites.
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PMID:[Diagnosis of inflammatory myopathy; usefulness of 99mTc MDP scintigraphy and muscle MRI for determination of affected sites]. 1068 32

A 33 year old female, suffering from HIV infection, presents with diffuse myalgia, generalized muscle weakness and painless dysphagia. An extensive work-up allows to diagnose an HIV-related polymyositis; while well-known, this entity is however rarely observed. Technetium-99m MDP skeletal scintigraphy shows multiple extra-osseous accumulations of the tracer: these observations, as well as the differential diagnoses of muscular involvement during HIV infection, are discussed.
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PMID:[Polymyositis associated with HIV immunodeficiency: clinical case and literature review]. 1148 83

Bone plasmacytoma is a rare plasma cell neoplasm that can present with a polyradiculoneuropathy. A 57-year-old man presented with 2-month history of progressive weakness and numbness of both legs. Neurological examination showed symmetric distal weakness, reduced vibration senses in limbs and areflexia. CSF had high protein content. Electrophysiological evaluation revealed a demyelinating sensory-motor polyneuropathy. IgG-lambda paraprotein was present in serum. Full skeletal survey, spinal MRI and body CT-scan were normal. 99mTc-methylene-dyphosphonate scintigraphy (99mTc-MDP) revealed a solitary accumulation in the sternum. Biopsy of the lesion demonstrated a plasmacytoma. We emphasize that 99mTc-MDP scintigraphy can be a useful screening procedure for patients with polyradiculoneuropathy and occult bone plasmacytoma.
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PMID:Sensory-motor polyradiculoneuropathy as the first manifestation of sternum bone plasmacytoma only revealed by bone scintigraphy. 1907 Apr 87

We present a case of a 13 years old boy who was hospitalized with a 10 months history of progressive pain and weakness in his lower extremities. The laboratory tests revealed slightly decreased phosphate and 25-hydroxyvitamin D3, high alkaline phosphatase, normal calcium and parathyroid hormone (PTH). Magnetic resonance imaging (MRI) showed multiple patchy lesions indicating bone destruction in the metaphyses and epiphyses of the left knee. Fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) revealed a generalized decrease of bone density in axial bones with slightly increased 18F-FDG metabolism. Whole body technetium-99m methylene diphosphonate (99mTc-MDP) scintigraphy revealed multiple areas of increased uptake at costochondral junctions of the ribs bilaterally suggesting a rachitic rosary and at the metaphyses of the bones of the limbs. Based on these findings we suggested the diagnosis of hypophosphatemic rickets (HPR). Phosphate and vitamin D substitution resulted in clinical improvement of the symptoms after 3 months.
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PMID:A pediatric hypophosphatemic rickets on MRI, 99mTc-MDP bone scan and 18F-FDG PET/CT. 2831 17

We presented a 61-year-old man's surprising Tc-MDP whole-body blood pool superscan pattern with early unexpected generalized bone uptake. He complained of weakness and undesired weight loss with anemia and elevated erythrocyte sedimentation rate. As a malignancy workup in a patient without obvious suspicious origin, a whole-body Tc-MDP bone scan was requested. This unusual tracer distribution on blood pool imaging was very similar to the whole-body delayed scan except for visible kidneys.
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PMID:Whole-Body Blood Pool Metastatic Superscan (Bone Hunger Pattern). 3082 59