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)

We studied the pattern of proximal femoral growth after severe Perthes' disease (Catterall grade III or IV) by retrospective analysis of serial radiographs in 52 hips (46 patients). Our aim was to determine the relationship between proximal femoral growth abnormalities and metaphyseal cysts, epiphyseal extrusion, physeal narrowing, and extensive epiphyseal necrosis. The average follow-up after treatment was 9.8 years (range 4 to 16 years), and 37 of the hips were followed to skeletal maturity. Slowing of proximal femoral growth was common: symmetrical abnormality was seen in 26 hips and asymmetrical abnormality in nine. However, definite premature closure of the proximal femoral physis was seen in only three hips. Abnormality seemed to be due to altered growth velocity rather than to bar formation in most cases. Metaphyseal cysts, epiphyseal extrusion and physeal narrowing during the active stage of the disease, alone or in combination, were found to be neither sensitive nor specific predictors of the subsequent growth pattern.
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PMID:Abnormalities of proximal femoral growth after severe Perthes' disease. 276 8

The aim of this survey was to determine the vascular disturbances occurring during transient synovitis (observation hip, "hanche irritable"). Within these last two years thirty children were admitted with painful hip, limp and restriction of the passive motion in the hip joint. Legg-Calve-Perthes disease was excluded by roentgenographic analysis and bone scintigraphy. Osteoblastosis was studied by using 99mTc methyl-diphosphonate. Another tracer was necessary to investigate the blood supply into the affected femoral head : 99mTc marked colloids were injected. Immediately after the intravenous administration of the isotope comparative activity was recorded every ten seconds. Computerized information allowed the description of four different stages, i.e. arterial supply, filling peak, venous elimination and later recirculation. Nineteen (63%) affected children presented a decrease in isotopic activity during the first two stages. The proposed interpretation consists in a selective decrease in blood supply in the femoral head. Venous circulation was rarely disturbed. Treatment consisted in bedrest with skin traction. In this series, no aspiration of the joint was performed. Eight days after admission dynamic scintigraphy with marked colloids revealed a highly significant decreased asymmetry between the two femoral heads. Only seven patients (23%) presented arterial hypoperfusion. Fifteen days later only three cases remained abnormal. Two of them presented some weeks after the regression of the symptoms an asymmetrical bone scintigraphy and secondarily the roentgenographic features of Legg-Calve-Perthes disease. Radioactive colloids seem to be useful to diagnose transient synovitis and to determine the prognosis. Although its etiology is still unknown, transient synovitis seems to be characterized by vascular disturbances consisting in a decrease in blood supply in the affected femoral head. Persistence or recurrence of abnormal colloid scintigraphy is indicative of a poor prognosis.
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PMID:[Vascular disorders in irritable hip disclosed by dynamic scintigraphy with radioactive colloids]. 717 48

Report on 6 individuals, occurring in three successive generations of a single family, who were affected by "classical" tricho-rhino-phalangeal syndrome type I. Besides pear-shaped noses, enlarged philtrum, hypotrichosis, premature alopecia, coned epiphysis at the proximal interphaleangeal joints with consecutive ulnar deviation of the long fingers, dysostotic feet, Perthes-like hip dysplasia with multilocated joint laxity and hyposomia were impressing. Height was 168 cm, corresponding to the 50 (th) percentile. Radiographs and 3D-reconstruction of both hands showed asymmetrical brachymetacarpia, brachymesophalangia and painful invaginations of the middle phalanx bases (type 12 according to Giedion). Angular deformities are seen predominantly in the index finger decreasing to the ring finger. Painful cone-shaped epiphyses with ulnar dislocation of the PIP joints were stabilized following resection arthrodesis with tension band osteosynthesis. At reexamination 48 months postoperatively a painfree and powerful pinch grip function of both hands was restored. All family members who showed the phenotypical features of TRPS type I revealed in genetic analysis also identical mutations. Inside the exon 4 in position 1831 there was a nonsens mutation C --> T. Non-afflicted relatives did not show this mutation.
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PMID:[Surgical therapy of cone-shaped epiphyses of the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type I: a survey among three successive generations of a single family]. 1561 9