Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of symptoms associated with 15 cases of resistant tennis elbow and resistant radial tunnel pain are described. These included sensations of popping, paresthesias, and paresis. The duration of symptoms averaged 2.3 years before a definitive diagnosis of radial tunnel syndrome was made. Two unique anomalies were contributing factors in the radial nerve entrapment; one case demonstrated a completely tendinous proximal border of the extensor carpi radialis brevis and the other a bifid extensor carpi radialis brevis origin. Excellent pain relief, elimination of popping, and improvement of the paresthesias and paresis was achieved by release of the radial tunnel in cases unresponsive to conservative treatment.
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PMID:Radial tunnel syndrome: a spectrum of clinical presentations. 688 36

Suprascapular nerve entrapment (SNE) in the suprascapular notch is a rare entity that must be considered in the differential diagnosis of radicular pain, as well as that of shoulder discomfort. Over a period of 10 years (1985-1995), the authors treated 28 cases of SNE in 27 patients by surgical decompression of the nerve. One patient underwent operation bilaterally within 5 years. Five patients presented with a history of trauma to the shoulder region. In three patients, a ganglion cyst was the origin of the nerve lesion. In 16 patients, the nerve problem was primarily related to athletic activities. Eight of these patients were professional volleyball players. In the remaining three patients, there was no relationship between the nerve lesion and trauma or athletic activities. Twenty-one patients (22 cases) complained of pain located over the suprascapular notch. Seventeen patients had paresis and atrophy of both the supraspinatus (SS) and infraspinatus (IS) muscles. In 10 patients only the IS muscle was involved. One patient exhibited a sensory deficit over the posterior portion of the shoulder. Electromyography was performed in all cases. The mean follow-up period in the 25 cases (24 patients) that could be evaluated was 20.8 months (range 3-70 months). Nineteen of 22 cases with preoperative pain could be evaluated. Sixteen of these patients were completely free of pain after surgery and three patients found their pain had improved. Motor function in the SS muscle improved in 86.7% and motor function in the IS muscle in 70.8% of cases. Atrophy of the SS muscle resolved in 80.7% and atrophy of the IS muscle in 50% of cases. Surgical treatment of SNE is indicated after failed conservative treatment and in cases of atrophy of the SS and IS muscles. The authors recommend the posterior approach, which minimizes risks and complications and produces good postoperative results.
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PMID:Suprascapular nerve entrapment: experience with 28 cases. 892 90

In this study, a brother and sister of German origin are described with a possible diagnosis of van Buchem disease, a rare autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis of the skeleton mainly affecting the cranial bones. Clinically, patients suffer from cranial nerve entrapment potentially resulting in facial paresis, hearing disturbances, and visual loss. The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, syndactyly, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease. Previous molecular studies demonstrated homozygous loss-of-function mutations in the SOST gene in sclerosteosis patients while a chromosomal rearrangement creating a 52-kb deletion downstream of this gene was found in Dutch patients with van Buchem disease. This deletion most likely suppresses SOST expression. Sclerostin, the SOST gene product, has been shown to play a role in bone metabolism. The two siblings reported here were evaluated at the molecular level by carrying out a mutation analysis of the SOST gene. This resulted in the identification of a novel putative disease-causing splice site mutation (IVS1 + 1 G-->C) homozygously present in both siblings.
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PMID:A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 1586 24