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)

In this the third part of the article on uncertainty, agent relationships and asymmetrical information, Doctor Lara passes through Reykiavik and London on her to her final description in Seville. She takes advantage of this analogy to conceptualize the problem of principal and agent, analyzing generic agency relationships pertaining directly with health organizations. When dealing with the interesting question if the problem of principal and agent in health organizations can be lessened, a few equally interesting answers were formulated: allow the professionals to assume the mission and the values of the organization; a well thought out leadership policy; and improvement in information provided; an incentive policy; compatibility of interests between the principal and the agent; ethics and competitive advantage; quality management....
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PMID:[Uncertainty, relations with agencies and asymmetric information (III)]. 1051 74

We report a possible association of unilateral absence of a clavicle with rapidly progressive scoliosis. Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that is characterized by defective bone formation. The clavicle, pelvis, and skull are the most commonly affected bones. A review of the literature found two cases of CCD and scoliosis. Unilateral absence of the clavicle in association with rapidly progressing scoliosis has not been previously reported. Review of the patient's charts and radiographs from age 8 to 17 years, 5 years after treatment with posterior spinal instrumentation is presented, together with a review of the literature. Our patient initially presented without any spinal deformity until age 9, when she had a 10 degree curve between C-8 and L-T. Eighteen months later, the curve progressed to 52 degrees, Risser 1. Associated anomalies include posterior-element hypoplasia of the thoracic spine and posterior fusion of C4-6. She was treated with posterior spinal instrumentation from C-8 to L-4 without complications. Correction was maintained at 5-year follow-up. There may be an association between unilateral absence of the clavicle and rapid progression of scoliosis in immature children. We hypothesize that the asymmetrical influence of the unilateral absent clavicle may have played a causative role in her rapidly progressive scoliosis.
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PMID:Unilateral absence of the clavicle with rapidly progressive scoliosis in an 8-year-old. 1086 39

This report concerns a rare association of asymmetrical temporal lobe atrophy with multiple system atrophy (MSA). A 53-year-old Japanese woman developed cerebellar ataxia and parkinsonism and was diagnosed as olivopontocerebellar atrophy (OPCA). This patient showed forgetfulness and subsequent disorientation even in the early stage of the disease. She fell into a decorticate state at the age of 64, and died a year later. The autopsy showed MSA with asymmetrical atrophy of temporal lobes, intraneuronal globular inclusions mostly confined to the hippocampus, amygdaloid nucleus, and most abundant in the granule cells in the dentate fascia. These inclusions were intensely argyrophilic and expressed marked immunoreactivity to ubiquitin, but not to neurofilament (NF), tau and paired helical filaments (PHF). Ultrastructurally, they were composed of scattered short filamentous structures of 15 to 30 nm in diameter, ribosome-like granules, mitochondria and lipofuscin. The lack of immunoreactivity against tau, NF and PHF suggests that the inclusions are distinct from Pick bodies. To our knowledge, MSA in association with asymmetrical temporal lobe atrophy with the present neuronal inclusions has not been reported. This case is distinct from MSA combined with atypical Pick's disease in the distribution and immunohistochemical properties of neuronal inclusions, and may present a new variant of MSA since the neuronal inclusions are similar, in many respects, to those of neuronal inclusions reported in MSA. Globular inclusions are also discussed in variants of Pick's disease, amyotrophic lateral sclerosis and Alzheimer's disease.
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PMID:Asymmetrical temporal lobe atrophy with massive neuronal inclusions in multiple system atrophy. 1105 85

A 71 year old woman developed conjunctivitis, asymmetrical oligoarthritis, and cystitis (Reiter's syndrome) secondary to intravesical BCG treatment for transitional cell carcinoma of the bladder. She received oral prednisolone, izoniazid, and pyridoxine and made a full recovery. Increasing use of BCG as immunotherapy will lead to an increase in the incidence of BCG associated reactive arthritis. Prompt recognition and early diagnosis will facilitate treatment and recovery.
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PMID:Reiter's syndrome following intravesical BCG immunotherapy. 1108 72

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.
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PMID:Turner's syndrome mosaicism 45X/47XXX: an interesting natural history. 1176 52

We report a 61-year-old female patient with adult form of acid maltase deficiency showing many clinical similarities to facioscapulohumeral muscular dystrophy (FSHD). She developed difficulty in raising her right arm in her thirties followed by leg weakness. She had the typical features of FSHD, including bilateral scapular winging sparing the levator scapulae and deltoid muscles, and Beevor's sign. Muscle involvement was asymmetrical. Facial muscles were not affected, while the neck flexor was weak. No muscle shortening or joint contracture was observed. On muscle CT, the lumbar paravertebral, gluteal and thigh muscles were replaced by adipose tissue, while the rectus femoris, gracilis, and sartorius muscles were spared. Serum creatine kinase level was not elevated. Muscle biopsy showed some vacuoles and many granular inclusions with high acid phosphatase activity. Acid maltase activity was very low in both muscle and cultured skin fibroblasts. Absence of shortening of affected muscles appears to be the characteristic finding suggesting metabolic myopathies with minimal fibrosis, rather than FSHD.
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PMID:[Adult form of acid maltase deficiency presenting with pattern of muscle weakness resembling facioscapulohumeral dystrophy]. 1180 48

The authors present a female patient 45 years old, who had a car accident as a driver of a passenger car. Her car was hit from the left side by another car and the women hurt her head, neck and left shoulder. Due to pain in the region of the head and neck she was taken to the respective surgical out-patient department where they diagnosed the concussion of the brain of II degree and distortion of the cervical spine. The patient was treated conservatively by bed rest with the cervical spine fixed in the soft Schanz collar. After ten days she was discharged from the hospital and further followed up by a neurologist in the out-patient department. She underwent physical therapy focussed on the relaxation of muscles in the region of the cervical spine. Due to persisting pain in the region of upper cervical spine the patient was sent to the department of the first author six weeks after the injury. On clinical examination the head was inclined to the right and rotated to the left with pain in the region of the occipitocervical passage. Radiographs were made in the lateral and Sandberg projection. In the lateral projection the atlantodental distance was normal, the Sandberg projection showed an evidently asymmetrical location of the dens between the lateral masses of the atlas, asymmetrical size of the lateral masses and inclination of the head to the left. These basic projections alone showed an evident rotational atlantoaxial dislocation of I degree according to Fielding. The authors further added CT examination which showed rotation of C1 against C2 and asymmetrical location of the dens without dislocation from the anterior arch of the atlas. A conservative physical therapy was not successful and the patient felt worse. Twelve months after the injury a pre-operative traction by Glisson sling was introduced for five days with a gradual weight bearing up to 5 kg. A reduction followed from the dorsal approach and fixation of C1-C2 after Magerl combined with Gallie technique. The surgery was without complications and the post-operative radiographs showed a good position of the C1-C2 complex and a correct insertion of screws through atlantoaxial joints. The patient wore for six weeks a Philadelphia collar and another six weeks the Schanz collar. Standard and functional radiographs in flexion and extension made 12 weeks after the surgery showed bone bridging between C1-C2 arches and a stable atlantoaxial fusion. At the check one year after the surgery the patient had a limited rotation of the head by 25%, however, she was without pain and the inclination and rotation of the head was compensated. In the authors' view the use of Magerl technique of C1-C2 fixation is possible in case of a rotational atlantoaxial dislocation but difficult with regard to the changed anatomical conditions.
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PMID:[Atlanto-axial rotation dislocation (case report)]. 1195 70

We report a case of systemic sclerosis complicated by Takayasu's arteritis. A 68-year-old woman had been treated for hypertension since 1984. She also had Raynaud's phenomenon and noticed vertigo and dizziness. In January 1992, she was diagnosed with back bruit. In April 1994, she was complicated by vertigo and diagnosed with asymmetrical blood pressure. In October 1998, she consulted our hospital because of neck bruit, abdominal bruit, back bruit and stenosis of descending aorta bifurcation on chest computed tomography. Her blood pressure was asymmetrical, being recorded as 190/101 on the right and 140/90 on the left. Scleroderma was observed from the finger to forehand, precordia, and face. Telangiectasia was observed on the precordia. Laboratory studies revealed the presence of anti-nuclear antibody (x 1280, discrete speckled.), anti-centromere antibody but anti-topoisomerasel antibody was negative. Skin biopsy from the left forehand detected proliferation of collgen fibers and perivascular inflammatory cell infiltration. A diagnosis of systemic sclerosis was made according to the American Rheumatism Association criteria. We suspected complication by Takayasu's arteritis because of asymmetrical blood pressure and bruit. Chest-abdominal angiography detected stenosis of the right brachiocephalic trunk, celiac artery, and left renal artery. We diagnosed Takayasu's arteritis. This is the second case report of a patient with systemic sclerosis complicated by Takayasu's arteritis.
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PMID:[A case of systemic sclerosis complicated by Takayasu's arteritis]. 1216 15

The antiphospholipid syndrome is defined by the presence of antiphospholipid antibodies and recurrent thrombosis, affecting the venous system more frequently than the arterial one. Renal involvement is only observed in approximately 20-25% of cases, main renal artery thrombosis has been exceptionally described. We report a 39-year-old woman with previous history of recurrent thrombosis diagnosed as primary antiphospholipid syndrome, who presented malignant hypertension in the context of a renal artery thrombosis. She had a high IgG anticardiolipin antibody titre and positive lupus anticoagulant. An isotopic renogram demonstrated asymmetrical activity (60% right vs 40% left kidney). Renal arteriography demonstrated preoclusive thrombosis in the left renal artery. Blood pressure was well controlled by the use of ACE-inhibitor and alpha blockers.
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PMID:[Primary antiphospholipid syndrome associated with malignant hypertension]. 1521 79

Peripheral nerve involvement is a rare, yet treatable neurological manifestation of sarcoidosis. Most patients respond well to corticosteroids, but relapses are common and the long-term prognosis remains unpredictable. We present a patient with an asymmetrical neurological presentation of previously undiagnosed sarcoidosis. She presented with paresthesias and predominantly distal extremity weakness. Other possible causes of neuropathy were ruled out and she was found to have an elevated serum ACE level. A nerve/lip biopsy demonstrated non-caseating granulomas consistent with sarcoid. Her clinical outcome was favorable after initiating treatment with high dose oral prednisone.
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PMID:Mononeuritis multiplex secondary to sarcoidosis. 1570 31


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