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Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. The nails were hyperkeratotic. Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. The most prominent ultrastructural finding was the presence of solitary or multiple droplets of varying size in the cytoplasm of the keratinocytes. Hair analysis revealed no abnormalities; the cystine concentration in hair specimens was normal.

Bone Diseases, Developmental↗

[Bone infarction, or idiopathic metaphyseal and diaphyseal aseptic osteonecrosis of the long bones. Update and contribution of new imaging technics].

Twenty patients with "idiopathic" bone infarction were studied. There were 18 men and 2 women, age 30 to 69 years, at the time of the diagnosis (mean age = 49 years). Sixty-five lesions were recorded with a marked predominance to the lower extremities (77 p. cent are located around the knees) and to the metaphysis (only three pure diaphyseal lesions). Considered asymptomatic, these lesions were painful in 6 patients. They are multiple, and in this case symmetrical, in 12 patients (60 p. cent). X-Rays disclose the classic heterogeneous ball-like, smoke twirled or encapsulated calcifications. A periosteal thickening opposite the lesions was observed in 6 patients; this may be the only radiological sign. Finally, 18 of the 65 lesions were not visible on standard X-Rays, and obvious on MRI. The MRI aspect is characteristic and may be superposed on the basic lesions already described in the course of aseptic osteonecroses of the femoral head. This is, besides, the most sensitive test, snowing a larger number of more extended necroses than the other examinations. CT scanning as well as scintigraphy present a limited advantage. More than half of the patients also present epiphyseal aseptic osteonecroses, often multiple (55 sites for 13 patients), and often unrecognized. The etiological factors are in fact common to both of these diseases: steroid therapy, alcoholism, dyslipidemia, idiopathic forms. Among the possible causes, the literature mentions lupus erythematosus, renal transplant, cytosteatonecrosis, arteriopathies while there is no post-traumatic form. All of the characteristics of these bone infarctions determine a topographic form of the osteonecrotic disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Distal metaphyseal tibial nonunion. Deformity and bone loss treated by open reduction, internal fixation, and human bone morphogenetic protein (hBMP).

Four patients with severely deformed nonunions of the distal end of the tibia failed to respond to standard surgical methods and were successfully treated as follows: debridement of fibrous tissue, sequestrectomy, correction of angulatory deformities, internal stabilization, and implantation of human bone morphogenetic protein (hBMP). After resection of the sequestra, all four patients had significant bone defects of the anterior tibial cortex extending to the ankle joint. The average number of failed previous surgical procedures was 5.8. The average patient age was 35.3 years. The intervals of nonunion averaged 24.8 months. In two patients, the hBMP, including other low molecular weight bone matrix noncollagenous proteins (hBMP/NCP), was implanted across the fracture site in polylactic-polyglycollic acid strips (1 X 13 cm) as an onlay graft. In one patient, the BMP was implanted in the fracture gap in absorbable gelatin (No. 5 capsules). In another patient, the BMP/NCP was also implanted in the form of a composite of cortical allogeneic bone in addition to a capsule of BMP/NCP. In all four cases, alignment was restored and the bone ends were stabilized with internal fixation. Preoperatively, the ankle joints were ankylosed and painful. Healed fractures and functional ankle joints were observed in three of four patients at an average of 4.4 months. In one patient, the fracture healed but the joint remained ankylosed. Although a randomized double-blind consecutive series of matched cases is necessary to prove the efficacy of hBMP, implants of hBMP combined with skillful surgical treatment are under investigation in the interim as an alternative to amputation.

Adult↗

Dorsally angulated solitary metaphyseal greenstick fractures in the distal radius: results after immobilization in pronated, neutral, and supinated position.

In a prospective study, angular redisplacement has been correlated with immobilization in the pronated, neutral, or supinated position (20 children in each group). Those with greater than 20 degrees of dorsal angulation at day 1 and after 2 weeks were manipulated. Dorsal angulation after immobilization at day 1, 2 weeks, and 6 weeks was measured on accurate lateral views. Angular displacement during the first two weeks was (a) greater among reduced than unreduced cases in the pronation group (p less than 0.001), and (b) less in the supination group than in the other groups (p less than 0.05). Based on these findings, we believe that the fracture should be immobilized in the supinated position.

Child↗

[Biostimulation with low-intensity lasers--physics or metaphysics?].

The use of low-intensity lasers for biostimulation continues to produce controversies. This paper presents the basic principles of light propagation in tissue. Tissue properties such as fluorescence, absorption and scattering initiate a gradual loss of any "laser-specific" property of the light with distance from the irradiated surface. One of the aims of the discussion is to indicate if a given biological response is expected to be specifically dependent on a laser source, or if the same result also ought to be expected from more conventional light sources.

Biophysical Phenomena↗

Experimental tibial fractures in rabbits simulating proximal tibial metaphyseal fractures in children.

The etiology of valgus deformity after a seemingly innocuous fracture of the proximal tibial metaphysis in children is unknown. The purpose of this work was to identify the etiology of this deformity using a rabbit model. Twenty-two eight-week-old rabbits were divided into two groups. In Group I, the medial periosteum was excised from the left proximal tibial metaphysis. A partial osteotomy was created 5 mm distal to the epiphyseal plate, involving the medial one-half of the tibial metaphysis. Two 0.7-mm Kirschner wires were placed as markers on each side of the osteotomy. In Group II, the identical procedure was performed from the lateral side. Standard roentgenograms were obtained postoperatively and weekly until death by sodium pentobarbital overdose at six weeks. The angular deformity, medial growth, and lateral growth were calculated from the markers on the roentgenograms. All tibias were decalcified and analyzed under light microscopy. In Group I, all 11 rabbits developed valgus deformity averaging 12.2 degrees; asymmetric growth was statistically significant. In Group II, ten of 11 rabbits developed varus deformity averaging 9.8 degrees; asymmetric growth was not statistically significant. Despite obvious asymmetric growth in both groups, light microscopy failed to reveal any asymmetry of the physis. Valgus and varus deformities are secondary to asymmetric growth, which is not demonstrable by light microscopy.

Animals↗

A "new" epi-metaphyseal skeletal dysplasia in four members of a family.

In this report we present the clinical and radiological findings of an epimetaphyseal skeletal dysplasia affecting four members of the same family. Autosomal dominant inheritance with almost identical expression in all affected patients is documented. In addition to axial deviations of the lower limbs they all present coxarthrosis at young age, disproportionate short stature, identical facial stigmata and typical anomalies of hands and feet.

Bone Diseases, Developmental↗

Craniofacial dysostosis (Crouzon's disease) associated with metaphyseal dysplasia (Pyle's disease) in the same subject. A roentgenologic study.

Two distinct constitutional bone diseases, Crouzon's and Pyle's disease, transmitted in autosomal dominant manner trough maternal and paternal lines, were observed joined together in a young patient of 17. The roentgenographic pattern of this never (to our knowledge) before reported associated and the mode of inheritance are presented.

Adolescent↗

Metaphyseal and physeal lengthening.

The potential problems associated with physeal distraction and the relative success of callus distraction favor callus distraction as the procedure of choice for equalization of major limb-length discrepancies. Indications for lengthening are the same as in the Wagner procedure. The expected results and soft-tissue complications of callus distraction are similar to those of the Wagner technique. However, the number of procedures required and the osseous complications of lengthening appear to be reduced with these newer methods of limb lengthening.

Bone Lengthening↗