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At least 1,171 records · Page 65Linked to original sources
PubMed2000

Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice.

Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate and vertebrate development. The EXT1 protein is also required for the biosynthesis of heparan sulfate glycosaminoglycans that bind Hedgehog. In this study, we generated EXT1-deficient mice by gene targeting. EXT1 homozygous mutants fail to gastrulate and generally lack organized mesoderm and extraembryonic tissues, resulting in smaller embryos compared to normal littermates. RT-PCR analysis of markers for visceral endoderm and mesoderm development indicates the delayed and abnormal development of both of these tissues. Immunohistochemical staining revealed a visceral endoderm pattern of Indian hedgehog (Ihh) in wild-type E6.5 embryos. However, in both EXT1-deficient embryos and wild-type embryos treated with heparitinase I, Ihh failed to associate with the cells. The effect of the EXT1 deletion on heparan sulfate formation was tested by HPLC and cellular glycosyltransferase activity assays. Heparan sulfate synthesis was abolished in EXT1 -/- ES cells and decreased to less than 50% in +/- cell lines. These results indicate that EXT1 is essential for both gastrulation and heparan sulfate biosynthesis in early embryonic development.

Animals↗
PubMed1986

Adenosine deaminase deficiency and chondro-osseous dysplasia.

An in vitro model of ADA deficiency is selectively toxic to cartilage from immature rabbits with a greater effect on growth plate than articular cartilage. The selective toxicity observed appears to be the consequence of ATP depletion. These results support the hypothesis that the chondro-osseous dysplasia observed in patients with ADA deficiency is caused by the disordered metabolism that results from the enzyme deficiency.

Adenosine Deaminase↗
PubMed1991

A prospective review of arthroscopic debridement for degenerative joint disease of the knee.

A prospective review of 254 patients with moderate or severe knee pain due to degenerative joint disease, treated by arthroscopic debridement of menisci, articular cartilage, osteophytes and loose bodies has been made 24 to 140 months (average of 44 months) after surgery. Patients ranged in age from 28 to 82 years with an average of 49 years. At review, 75% had minimal discomfort and improved function and 85% were satisfied with the treatment. Those with less radiographic arthritis, less severe involvement of articular cartilage at operation and of younger age had more worthwhile improvement. This procedure allows worthwhile relief of symptoms, and only 14% had a subsequent operation after an average period of four years.

Adult↗
PubMed1992

Shoulder impingement syndrome: impingement view and arthrography study based on 100 cases.

A prospective evaluation combining the shoulder impingement view and arthrography was made in patients presenting with chronic shoulder pain. Five hundred and twenty-three patients with chronic shoulder pain were X-rayed using conventional views and impingement views. One hundred of these patients (mean age 62 years) had subacromial bony spurs on the impingement view; these underwent arthrography. They were divided into two groups according to the degree of spur formation--whether or not the size of the spur exceeded one half of the acromial width as measured from the outer margin to the acromioclavicular joint. Of the 100 subacromial spurs demonstrated on the impingement view, only 18 were visible on the conventional view as assessed by an independent radiologist. Arthrography showed 35 cases of rotator cuff tear. The size of the bony spur was strongly associated with the incidence of rotator cuff tear (P < 0.02).

Acromion↗
PubMed1992

Proliferative periosteal processes of phalanges: a unitary hypothesis.

A unitary hypothesis is offered to explain the various proliferative processes occurring around the phalanges. In the past, these have been separately designated as proliferative periostitis, bizarre parosteal osteochondromatous proliferation, and turret exostosis. Because the appearances of these entities depend on temporal factors, breaching of the periosteum, and local anatomic features, we suggest a single term, proliferative periosteal processes of phalanges.

Bone Diseases↗
PubMed1992

Bone excrescence at the medial base of the distal phalanx of the first toe: normal variant, reactive change, or neoplasia?

In a review of 157 anteroposterior (AP) foot radiographs in 117 adult and pediatric patients, we observed a medial excrescence on the plantar aspect of the terminal phalanx of the hallux in 88.5% of the feet. Histologic analysis documented the presence of reactive bone. The bony outgrowth appears after closure of the adjacent physeal plate and is rarely symptomatic. Its high prevalence indirectly implies that it is not specific to any particular type of foot. Although certain types of foot may contribute to its development, we believe that repetitive forces occurring during ambulation induce this reactive bone formation.

Adipose Tissue↗
PubMed1979

External fixation of unstable pelvic fractures.

The Hoffmann external fixator was used to stabilize unstable pelvic fractures in 56 patients with multiple injuries. It was applied under general anaesthesia and the dislocated pelvis reduced and secured with a single tie bar. In 16 cases residual dislocation of less than 1.5 cm was noted after the reduction and the reduced position was maintained in 48 out of 51 cases, a minor redislocation occurred in the remaining 3 patients. Few complications could be attributed to the method, infection was noted in one patient, the iliac crest was fractured in one case and an exostosis of the iliac crest occurred in one youth. Forty-three patients were symptom free with regard to the pelvis at the time of review whereas 5 patients had residual pain and 3 diffuse symptoms. The technique of application is simple but requires two surgeons at the time of reduction and fixation of the pelvis.

Adolescent↗
PubMed1989

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.

Chromosome Banding↗
PubMed1986

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

The thyroglobulin gene has been mapped to chromosome band 8q24 by several investigators. This is the band implicated in the causation of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome II). We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. The results indicate that the locus of the thyroglobulin gene is intact in the patient with an interstitial deletion of proximal band 8q24.1 which confirms its more distal localization reported earlier by Bergé-Lefranc et al. (1985). It also assigns the critical region for the causation of Langer-Giedion syndrome to the proximal part of band 8q24, viz. 8q24.11----q24.13.

Child↗
PubMed1978

Familial basal cell nevus syndrome.

The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

Adult↗
PubMed1981

The CT appearance of avulsion of the posterior vertebral apophysis. A case report.

Avulsion and posterior dislocation of the posterior dislocation of the posterior part of the vertebral apophysis is a rare condition, occurring mainly in adolescence. If the avulsed part is ossified it may be diagnosed with conventional X-rays including myelography. The present case shows that CT scan with sagittal reconstruction gives exact information of the nature of the lesion as well as its extension into the spinal canal, and that CT alone is sufficient for preoperative diagnosis.

Adolescent↗