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At least 919 records · Page 51Linked to original sources
PubMed1998

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.

Animals↗
PubMed2004

Mutations in the human TBX4 gene cause small patella syndrome.

Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.

Adolescent↗
PubMed1998

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Nail-patella syndrome (NPS) is an inherited developmental disorder most commonly involving maldevelopment of the fingernails, kneecaps and elbow joints. NPS exhibits wide variation in phenotypic expression within and among families with respect to these features. Other skeletal abnormalities such as hip dislocation and club foot have also been reported in some individuals with NPS. There is an association between NPS and renal disease, and between NPS and open-angle glaucoma (OAG), but it is not known whether mutations in a single gene cause the observed skeletal, renal and ophthalmic abnormalities. Recently, LMX1B , a transcription factor of the LIM-homeodomain type with homologs that are important for limb development in vertebrates, was mapped to the same general location as NPS at 9q34. We sequenced a large segment of LMX1B from the genomic DNA of probands from four families with NPS and OAG, and identified four mutations: two stop codons, a deletion causing a frameshift and a missense mutation in a functionally important residue. The presence of these putative loss-of-function mutations in the DNA of individuals with NPS indicates that haploinsufficiency of LMX1B underlies this disorder. These findings help to explain the high degree of variability in the NPS phenotype, and suggest that the skeletal defects in NPS are a result of the diminished dorsoventral patterning activity of LMX1B protein during limb development. The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B.

Adolescent↗
PubMed1989

Variability of the antigenicity of the glomerular basement membrane in nail-patella syndrome.

The difficulty of diagnosing Alport-type nephritis, and the possibility of altered antigenicity of the glomerular basement membrane in Alport-type nephritis is discussed. Attention is focused on the monoclonal antibody MCA-Pl as a specific tool in studying the Goodpasture antigenetic determinant in renal biopsy specimens. The clinical details and the results of MCA-Pl binding studies for three patients with nail patella syndrome are presented. Two of these patients proved to have an abnormal antigenicity of the glomerular basement membrane as demonstrated by the absence of binding of MCA-Pl. This is the first time that such an abnormality has been demonstrated in patients other than those with Alport-type nephritis. The significance of these results is discussed.

Adult↗
PubMed1975

Relationship of hyperextended gait pattern of chondromalacia patellae.

A specific hyperextended gait pattern is seen in patients with chondromalacia patellae. A new program designed to correct this gait impairment was evaluated by a clinical study. The findings of the study suggest a direct relationship between the amount of hyperextension and clinical severity of symptoms. When the patient's gait deviation is corrected, the symptoms of pain and effusion are alleviated.

Cartilage Diseases↗
PubMed1981

Chondromalacia of the patella: an unusual presentation.

A 38-year-old male with a 10-year history of recurrent ruptured popliteal cyst at the right knee was diagnosed at arthroscopy to have chondromalacia patellae. After shaving of the affected area he had no further symptoms on follow-up 18 months later.

Adult↗
PubMed1982

The "hot" patella.

Increased patellar uptake on bone scans is seen quite commonly but the possible or probable etiologies of this finding have not been previously well described. A review of 100 consecutive bone scans showed that the incidence of bilateral "hot" patellae is 15%. Identified etiologies include osteoarthritic degenerative disease (35%), fracture, possible metastatic disease, bursitis, Paget's disease, and osteomyelitis. The value of careful history, physical examination, and radiographs is stressed.

Adult↗
PubMed1975

A comparison of patellectomy with prosthetic replacement of the patella.

Eight adult mongrel dogs were used to compare patellectomy with prosthetic replacement of the patella. All of the dogs who underwent patellectomies displayed functional disturbances when examined four weeks postoperatively. None of the dogs with patellar prostheses displayed discernible functional disturbances. All but one of the dogs with patellectomies developed pathological alterations in the patellar bed of the femur. None of the dogs with patellar prostheses had pathological alterations in the patellar bed of the femur.

Animals↗
PubMed2001

Osteomyelitis of the patella.

Osteomyelitis of the patella is an uncommon infection that is primarily a disease of childhood. The diagnosis frequently is delayed because of its rarity and variable presentation, which may be acute with systemic signs or insidious with mild local signs. The diagnosis should be considered in patients with persistent peripatellar pain and swelling, cellulitis, septic prepatellar bursitis, and septic arthritis of the knee that does not respond to standard treatment. Treatment is identical to the treatment of osteomyelitis at other locations. The outcome is favorable in the child regarding range of motion and activity, although there may be persistent changes radiographically.

Diagnosis, Differential↗
PubMed2001

Surgical repair of cartilage defects of the patella.

The structure and biomechanical forces on the patellar joint challenges researchers to define an ideal method for resurfacing the patellar cartilage. The articular surface of the patella presents variability between individuals, and has various minor articulations that bear partial or total compressive, shear, and combined forces during movement. Surgical techniques for the repair of patellar cartilage defects have evolved from cumulative advances in basic science and technology. Such surgeries include the techniques that promote either fibrocartilage formation or hyalinelike cartilage formation. Techniques promoting the formation of fibrocartilage yield short-term solutions because fibrocartilage lacks the durability and the mechanical properties of articular hyaline cartilage. Currently, there is no ideal method for the repair of patellar cartilage defects; all methods are considered experimental. Additional controlled and randomized clinical studies with large series of patients and long-term followup are required.

Cartilage Diseases↗
PubMed2002

Patellar component resection arthroplasty for the severely compromised patella.

When severe bone loss precludes reimplantation of a new patellar component during revision knee arthroplasty, the treatment options include patellar bone grafting, patellar component resection arthroplasty, and patellectomy. The purpose of this study was to evaluate the clinical and functional results of patellar component resection arthroplasty for the severely compromised patella for which insertion of another patellar component was not possible. Thirty-five knees (31 patients) were treated with patellar component resection arthroplasty for aseptic patellar component failure associated with severely compromised patellar bone stock. Followup averaged 7.9 years (range, 2-18 years). There was a significant improvement in Knee Society pain and function scores. Pain relief was more dramatic than functional improvement. The range of motion also improved significantly and in particular preoperative extensor lag was resolved in the majority of patients. Patients treated with isolated patellar resection arthroplasty were more likely to have continuing pain and require reoperation compared with patients who had concomitant revision of the tibial and femoral components. Correct positioning and the stability of tibial and femoral components should be tested carefully at the time of patellar resection arthroplasty and considered for revision if malpositioned either axially or rotationally.

Adult↗
PubMedDate not supplied

Dorsal defect of the patella: MR features.

Dorsal defect of the patella (DDP) is a benign lesion with characteristic radiologic features. We describe the MR appearance of a typical DDP and a healed DDP as seen in two patients. The classic CT appearance is also described.

Adult↗
PubMed1990

Like father, like son: a tale of two patellae.

A father and son travelling in their car were involved in a collision with another vehicle. Subsequently, both were found to have what were thought to be long-standing developmental bipartite patellae. However, subsequent investigations and the patients' progress cast doubt on this diagnosis and suggested that the lesions were fractures.

Accidents, Traffic↗
PubMed1997

Treatment of delayed and nonunion of the patella.

OBJECTIVE: To review our experience with nonoperative versus operative management of patients with patellar delayed union or nonunion. DESIGN: Retrospective study with an average follow-up of 64 months (range 5-135) after definitive treatment. SETTING: All patients were reviewed and evaluated at a large multi-specialty clinic. PATIENTS AND OTHER PARTICIPANTS: The series represents twenty patients who all presented to our institution with a diagnosis of patellar nonunion irrespective of their initial treatment. This included twelve males and eight females with an average age of 38 (range 12-76) years. Initial treatment of the original fracture was nonoperative in 12 and operative in eight. All fractures progressed to symptomatic nonunion at an average of 34 months from original injury (range 4-109). INTERVENTIONS: Definitive treatment of the nonunion was nonoperative in seven patients and operative in 13. Nonoperative management consisted of observation, activity modification, physical therapy, and local pain relief measures. Operative management included open reduction and internal fixation, partial patellectomy, or patellectomy. The internal fixation consisted of tension band wiring, Bunnell wiring, cerclage wiring, or screw fixation. MAIN OUTCOME OR MEASURES: Patients were reviewed for radiographic analysis as well as Knee Society knee and function scores. RESULTS: Definitive treatment was nonoperative in seven patients. Their mean Knee Society knee and function scores at the time of presentation with nonunion were 72 and 78, respectively, with an average knee range of motion of 127 degrees. The nonunions of thirteen patients were treated operatively. Knee Society knee and function scores at the time of presentation with nonunion averaged 82 and 80, respectively, with an average knee range of motion of 112 degrees. Patients who had operative management or elective nonoperative management performed better than those who refused operative management. Patients treated surgically had an average Knee Society score of 94, a function score of 93, and an average knee range of motion of 109 degrees. Those treated nonoperatively had an average knee score of 83, a function score of 75, and an average range of motion of 120.0 degrees. In the nonoperative group, all seven patients had persistent radiographic nonunion. Only one of thirteen patients treated operatively had persistent radiographic nonunion. CONCLUSION: Our findings suggest that patients with minimally symptomatic delayed union or nonunion of the patella can be successfully treated nonoperatively with the knowledge that the fracture will not unite. Operative management of symptomatic patients can be expected to achieve union and increase function of the knee.

Adolescent↗
PubMed2002

Internal fixation of a patella fracture using an absorbable suture.

This case report describes the use of an absorbable suture for the fixation of a patella fracture in a child. In this case the fracture was held satisfactorily by the suture until union. This technique means that there is no need for a second operation to remove the fixation material.

Absorbable Implants↗
PubMed1977

The management of tibial shaft fractures by early weight bearing in a patella tendon bearing cast: a comparative study.

The purpose of this paper is to describe the author's personal experiences in using the Patella Tendon Bearing Cast (P.T.B.) as described by Sarmiento (6), in the management of tibial shaft fractures. In all patients weight-bearing was instituted in a P.T.B. cast 4 weeks from the date of the fracture. The results obtained were compared with those of conventional methods used in the treatment of tibial shaft fractures. Analysis revealed that when the P.T.B. cast was used for treatment of tibial shaft fractures, the time taken for fracture healing was significantly reduced and the functional results were superior to those of conventional methods.

Body Weight↗
PubMed1988

Intra-articular dislocation of the patella.

A very rare case of intra-articular dislocation of the patella in a 10-year-old boy is presented. Closed reduction was successful. After reduction, X-rays showed normal patello-femoral alignment.

Casts, Surgical↗