Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Unilateral increased activity in the lower extremities was noted in 5 patients who underwent routine 99mTc-pyrophosphate bone imaging for metastatic evaluation. In three patients a large pelvic mass or retroperitoneal hematoma was noted on the affected side. Clinical evidence of lymphatic obstruction was apparent in two cases with pelvic mass. In the fourth case, venous disease (thrombophlebitis) was noted and the fifth case showed osteomyelitis. The possible mechanism for this phenomenon may include obstruction of the lymphatic or venous circulation and inflammation. Other causes of soft tissue uptake of 99mTc-PYP are reviewed. The above mentioned conditions must be excluded when asymmetrical activity of 99mTc-PYP is seen on routine bone imaging.
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PMID:Unilateral increased radioactivity in the lower extremities on routine 99mTc-pyrophosphate bone imaging. 71 82

Five cases of hematogenous osteomyelitis of the ischiopubic synchondrosis (IPS) were encountered among 180 patients with osteomyelitis treated over a 5-year period. Symptoms were poorly localized in all these IPS osteomyelitis patients. The IPS can normally show expansion and irregular mineralization radiographically and focal hyperconcentration of radiophosphates on scintigrams. Findings are frequently asymmetrical negating comparison with the contralateral side. In the cases of osteomyelitis, radiographs were abnormal at the time of presentation in only one of these five cases. In two of the four patients who had radionuclide bone scans, activity at the IPS exceeded that seen in a normal control population, but all showed loss of definition of the IPS and regional increased uptake permitting an early diagnosis.
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PMID:The scintigraphic and radiographic appearance of the ischiopubic synchondroses in normal children and in osteomyelitis. 334 Apr 33

Anatomical, life-like, three-dimensional (3D) models have a definite place in cranio-maxillofacial surgery. Our experience with 541 computer tomography (CT)-based 3D models employed in aiding corrective surgery of tumours, dysgnathia, traumatology, alveolar atrophy, congenital malformation and asymmetrical malformations in our department is discussed. From July 1988 to February 1997, 3D models of 346 patients were used. Most of these were produced at our clinic. The indications, advantages and limitations of 3D-models were analysed retrospectively. In the case of congenital malformations (n = 60), models facilitated precise diagnosis of the skeletal deformity. Simulation surgery allowed prediction and solution of intraoperative problems prior to the actual patient operation. Size, shape and localization of defects caused by trauma (n = 64), osteoradionecrosis (n = 17) or osteomyelitis (n = 2) determined the choice of transplant donor site. In patients suffering from dysgnathia (n = 144), 3D models enabled exact positioning of the jaws. Precise planning could only be accomplished with the help of 3D models, especially for asymmetrical malformations (n = 12). In cases of severe atrophy of the alveolar crest (n = 45), exact measurement of the bone was possible and facilitated the decision as to whether dental implants, bone transplants or a combination of these were indicated. The positioning of transplants and implants was carried out in the ideal relation to the opposite jaw. In tumour patients (n = 186), it is not always possible to identify the tumour borders precisely on the CT scan or 3D model. Therefore, the defect was assumed to be bigger, a longer bridging plate constructed and this measurement corrected according to the intraoperative situation. The advantage of the 3D models consisted of an accurate representation of anatomical structures, bone or soft tissue. This allows precise preoperative diagnosis, operation planning and model operations. Due to this, the correct approach as well as operation technique could be chosen, outcomes of constant high quality were achieved, and there was a reduction in operation time.
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PMID:Indications and limitations of three-dimensional models in cranio-maxillofacial surgery. 956 89

Contiguous inflammation of the skin (CIS) is a condition comprising localized inflammatory skin reactions which are secondary to a source of infection originating in deeper anatomical structures (bacterial or sterile abscesses, neoplasm-associated inflammations, foreign bodies, osteomyelitis, sinusitis, etc.). The main clinical symptom of contiguous inflammation of the skin is an asymmetrical, localized and painful erythema in combination with different case-specific symptoms. Four patients are presented below, who developed CIS caused by an ethmoidal carcinoma with superinfection, a postoperative mediastinal abscess, an odontogenic staphylococcal abscess and a purulent sinusitis maxillaris. The purpose of this paper is to bring attention to this condition and to offer guidelines for a rapid diagnosis of its underlying, potentially life-threatening, causal inflammatory focus.
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PMID:Contiguous inflammation of the skin. 992 Sep 89

Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. A wide range of disease severity for peripheral neuropathy, from asymptomatic cases to subjects with chronic skin ulcers in their feet and osteomyelitis leading to amputations, was detected in D66del patients. Mild, often asymmetrical, hearing impairment was found in all but one patient with mutation D66del of this family and the same mutation was present in an independent family ascertained because of hearing impairment. We have found mouse connexin 31 (Gjb3) gene expression in the cochlea and in the auditory and sciatic nerves, showing a pattern similar to that of Gjb1 (connexin 32), of which the human ortholog (GJB1) is involved in X-linked peripheral neuropathy. This expression pattern, together with auditory-evoked brainstem anomalous response in D66del patients, indicates that hearing impairment due to GJB3 mutations involves alterations in both the cochlea and the auditory nerve. Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders.
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PMID:Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. 1130 68

A 54-year-old man of Persian origin presented to our department with a 1-year history of ulcers on the right leg that had been unresponsive to numerous topical treatments, accompanied by lymphedema of the right leg. Medical history included hypergonadotropic hypogonadism, which had not been further investigated. He was treated for 20 years with testosterone IM once monthly, which he stopped a year before the current hospitalization for unclear reasons. The patient reported no congenital lymphedema. Physical examination revealed two deep skin ulcers (Figure 1) on the right leg measuring 10 cm in diameter with raised irregular inflammatory borders and a boggy, necrotic base discharging a purulent hemorrhagic exudate. Bilateral leg pitting edema and right lymphangitis with lymphadenitis were noted. He had low head hair implantment, sparse hair on the body and head, hyperpigmentation on both legs, onychodystrophia of the toenails (mainly the large toe and less prominent on the other toes), which was atrophic lichen-planus-like in appearance and needed no trimming (Figure 2), normal hand nails, oral thrush, and angular cheilitis. Other physical findings were gynecomastia, pectus excavatum, small and firm testicles, long extremities, asymmetrical goiter, systolic murmur 2/6 in left sternal border, and slow and inappropriate behavior. The patient's temperature on admission was 39 degrees C. Blood cultures were negative for bacterial growth. Results of laboratory investigations included hemoglobin (11.2 g/dL), hematocrit (26.8%), normal mean corpuscular volume and mean corpuscular hemoglobin volume, and red blood cell distribution width (16%). Blood smear showed spherocytes, slight hypochromia, anisocytosis, macrocytosis, and microcytosis. Blood chemistry values were taken for iron (4 micro g/dL [normal range 40-150 micro g/dL]), transferrin (193 mg/dL [normal range 220-400 mg/dL]), ferritin (1128 ng/mL [normal range 14-160 ng/mL]), transferrin saturation (1.5% [normal range 20%-55%]), serum folate (within normal limits), and vitamin B12 (within normal limits). Direct Coombs' test equaled positive 2 + IgG. All these values indicated anemia of chronic diseases combined with hemolytic anemia. Further blood work-up tested antinuclear antibody (positive <1:80 homogeneous pattern), rheumatoid factors (143 IU/mL [positive >8.5 IU/mL]), C-reactive protein (286 mg/L [normal range 0-5 mg/L]), anticardiolipin IgM antibody (9.0 monophosphoryl lipid U/mL [normal range 0-7.00 MPL U/mL]) and antithrombin III activity (135% [normal range 74%-114%]). Results of other blood tests were within normal limits or negative, including lupus anticoagulant, beta2 glycoprotein, anticardiolipin IgG Ab, anti-ss DNA Ab, C3, C4, anti-RO, anti-LA, anti-SC-70, anti-SM Ab, P-ANCA, C-ANCA, TSH, FT4, anti-T microsomal, antithyroglobulin, protein C activity, protein S free, cryoglobulins, serum immunoelectrophoresis, VDRL, hepatitis C antibodies, hepatitis B antigen, and human immunodeficiency virus. Endocrinological work-up examined luteinizing hormone (22.9 mIU/mL [normal range for adult men 0.8-6 mIU/mL]), follicle stimulating hormone (49.7 mIU/mL [normal range for adult men 1-11 mIU/mL]), testosterone (0.24 ng/mL [normal range for adult men 2.5-8.0 ng/mL]), bioavailable testosterone (0.02 ng/mL [normal range for adult men >0.6 ng/mL]), and percent bioavailable test (8.1% [normal value >20%]). These results indicate hypergonadotropic hypogonadism. Plasminogen activator inhibitor 1 was 6 U (normal value 5-20 U/mL). Karyotyping performed by G-banding technique revealed a 47 XXY karyotype, which is diagnostic of Klinefelter's syndrome. Doppler ultrasound of the leg ulcers disclosed partial thrombus in the distal right femoral vein. X-rays and bone scan displayed osteomyelitis along the right tibia. Histological examination of a 4-mm punch biopsy from the ulcer border revealed hyperkeratosis, acanthosis, hypergranulosis, and mixed inflammatory infiltrate containing eosinophils compatible with chronic ulcer. Multiple vessels were seen, compatible with a healing process. Direct immunofluorescence of the biopsy revealed granular IgM in the dermo-epidermal junction. Indirect immunofluorescence was negative. Thyroid function tests showed normal thyroid stimulating hormone and free throxine4. Multinodular goiter was seen on thyroid scan and ultrasound. Thyroid fine needle aspiration was compatible with multinodular goiter (normal follicular cells, free colloid, macrophages with pigment). IV treatment with amoxicillin-clavulanic acid 1 g t.i.d. was administered for 2 weeks, with a decrease in temperature and normalization of the leukocyte level. Oral antibiotic treatment with amoxicillin-clavulanic acid was continued for 10 more days, followed by 25 days of ciprofloxacin for the osteomyelitis. Local treatment included saline soakings followed by application of Promogran (Johnson & Johnson, New Brunswick, NJ) and Kaltostat (ConvaTec Ltd., a Bristol-Myers Squibb Company, New York, NY) with slight improvement. At the same time, the patient was treated with warfarin sodium due to deep vein thrombosis under international normalized ratio 2-3. The patient was treated with IM testosterone once monthly for 1 year, which resulted in a reduction in the diameter and depth of the leg ulcers (Figure 3). Blood tests were not performed for follow-up of the immune state.
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PMID:Klinefelter's syndrome presenting with leg ulcers. 1536 65

A 12-year-old crossbred dog (case 1) and a 12-year-old Shetland sheepdog (case 2) were presented with a history of lameness and distal limb swelling. Physical examination revealed joint effusions and asymmetrical swellings of the extremities. In case 1, a diagnosis of arthritis and cellulitis was made on fine-needle aspiration biopsy of the synovium and subcutis. In case 2, bone biopsies and synovial aspirates diagnosed osteomyelitis and arthritis. A diagnosis of pancreatic disease was made on the findings of marked elevations of serum lipase concentrations and ultrasonographic identification of pancreatic masses in both cases. Both the cases were non-responsive to symptomatic management and were subsequently euthanased. Postmortem examination confirmed the diagnosis of panniculitis, arthritis and osteomyelitis in both cases. A pancreatic exocrine adenoma was identified in case 1 and a pancreatic adenocarcinoma with widespread metastases in case 2. To the authors' knowledge the association of panniculitis, polyarthritis and osteomyelitis with pancreatic disorders has not been reported previously in canine clinical cases.
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PMID:Panniculitis, polyarthritis and osteomyelitis associated with pancreatic neoplasia in two dogs. 1684 78

Proteus syndrome is an extremely rare genetic disorder characterized by an asymmetrical overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. We present a case of a six-year-old boy with proteus syndrome who underwent bone scintigraphy for suspected osteomyelitis. Bone scintigraphy ruled out osteomyelitis and suggested cellulitis. In addition, it demonstrated striking characteristic deformities, which need to be emphasized. Knowledge of these findings will avoid misinterpretation of bone scintigraphy in patients with proteus syndrome.
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PMID:Proteus syndrome: a case report with bone scintigraphy findings. 2333 98

This retrospective study investigated the early results of a single-stage posterolateral transpedicular corpectomy and fusion in the thoracolumbar spine. A modified technique with nerve preservation and bilateral expandable cage implantation is described. Four patients with vertebral metastasis and one patient with vertebral osteomyelitis were included in this series. Two patients underwent two level corpectomies, whereas three patients underwent single level corpectomy. The mean follow-up was 3.3 months. No perioperative complication was encountered. Improvement in neurological status was observed in patients with preoperative neurological deficits. Vertebral height and sagittal and coronal deformity were corrected using the current technique. Bilateral cage implantation offers an additional advantage of asymmetrical reconstruction of the ventral column in cases of hemicorpectomy. Single-stage posterolateral transpedicular corpectomy and fusion is a useful approach to treat ventral thoracolumbar pathologies.
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PMID:A modified posterolateral transpedicular approach to thoracolumbar corpectomy with nerve preservation and bilateral cage reconstruction. 2447 35

Reports of free-ranging Roosevelt elk (Cervus elaphus roosevelti) with abnormal hooves and lameness increased significantly in southwestern Washington, USA, during winter 2008. In March 2009 we examined five severely affected elk with clinical lameness from this region to characterize hoof lesions, examine the general health of affected elk, and potentially identify etiologies causing hoof disease. Three clinically normal elk from an adjacent but unaffected region were also collected as normal controls. Grossly, affected elk had deformed hooves that were asymmetrical, markedly elongated, and curved or broken, as well as hooves with sloughed horn. Most affected elk had severe sole ulcers with extensive laminar necrosis and pedal osteomyelitis. Histopathology of normal and abnormal hooves identified acute and chronic laminitis in all affected elk and one control elk. Hepatic copper and selenium levels in all affected and control elk were also deficient, and hoof keratin copper levels were low. No significant underlying systemic or musculoskeletal disease was detected in the affected elk, and attempts to isolate bacterial and viral pathogens were unsuccessful. A primary cause of hoof deformity was not definitively identified in this chronically affected group. Studies to identify infectious hoof disease and to characterize acute and subacute lesions are underway.
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PMID:Severe hoof disease in free-ranging Roosevelt elk (Cervus elaphus roosevelti) in southwestern Washington, USA. 2448 4


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