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Biomedical subjects

J B van Mourik

Publications and source records attributed to J B van Mourik.

15 recordsLinked to original sources

A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.

We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the elbow, ankle, wrist, hand, and feet joints. Involvement of the shoulder or hip joints is never seen after adolescence. The height of the affected individuals is short to normal; spinal involvement is never seen. The penetrance of the gene is complete. However, the expression of the gene is highly variable.

Adolescent↗

[Results of allogeneic bone transplants in spondylodesis of the spine].

The use of allogeneic bone bank bone was evaluated in 67 patients, operated for disorders of the spine. In 26 patients with paralytic scoliosis a pseudarthrosis developed three times and there was one infection. In 28 patients with other causes of scoliosis there were also three cases with pseudarthrosis. In the group of posterolateral arthrodesis of the lumbar spine we saw four patients out of 13 with pseudarthrosis. The results are in accordance with the literature. The use of allogeneic bone in scoliosis surgery is justified in view of the acceptable pseudarthrosis rate and the low incidence of infection. In the lumbar spine group, however, the use of bone bank bone gives less satisfactory results. The use of autologous bone is recommended for this group. There were no signs of transmission of infectious diseases in the total group of patients.

Adolescent↗

[A Dutch family with hereditary joint symptoms; multiple epiphyseal dysplasia].

Multiple epiphyseal dysplasia is a rare disease with autosomal dominant heredity which affects the epiphyseal ends of long bones; it leads to severe destruction of the joints. A large Dutch family with multiple epiphyseal dysplasia is described with manifestations of clinical disease predominantly in the lower extremities.

Adolescent↗

[Alleviation of pain through posterolateral spondylodesis in patients with prolonged severe backache].

In order to study the effect of posterolateral spinal fusion on pain and returning to work of patients with chronic lower back pain, a retrospective study was carried out at the University Hospital, Maastricht. Fifty-nine patients with spondylolisthesis I or II, spondylolysis, hemisacralisation, disc degeneration and pseudoarthrosis after spinal fusion were treated by posterolateral spinal fusion. A questionnaire and visual analogue scale were used to assess the pain. The mean preoperative pain level was 8.6; the postoperative pain level was 4.5; 13 patients were without pain. Before operation 41 patients had a job; after operation 34 returned to work. Sex, age, period of complaints, indication or level of operation did not significantly affect the pain score. In particular cases, posterolateral spinal fusion diminishes pain in patients with spondylolisthesis I or II, spondylolysis or hemisacralisation in whom pain does not improve after non-operative therapy. After the operation most patients return to their work.

Adolescent↗

[The treatment of fractures of the distal femur using the dynamic condyle screw].

For several years now the dynamic condylar screw (DCS) has been available for the operative treatment of supra- and intercondylar fractures of the femur. In the Department of Traumatology of the University Hospital Groningen, 12 patients were treated with a dynamic condylar screw in the period 1986-1990. Experiences with this method are reported. In all cases a stable fixation could be achieved. Nearly half the patients were polytraumatized and their recovery was influenced greatly by the other injuries. Regaining movements in the knee joint was mainly dependent on the age of the patient. Based on these experiences we conclude that the dynamic condylar screw is the method of choice for the treatment of supra- and intercondylar femoral fractures.

Adolescent↗

Limited value of arthroscopic evaluation and treatment of painful knee prostheses: a retrospective study of 27 cases.

Twenty-seven painful knee replacements were evaluated arthroscopically. The diagnostic and therapeutic value of these arthroscopic procedures was studied retrospectively. In 5 of the 27 cases, the arthroscopy revealed no diagnosis for the pain. Some form of arthroscopic treatment was performed in 20 cases; in 6 of these 20 cases, however, the treatment did not reduce the pain. Based on these findings, we conclude that the indications for arthroscopic evaluation and treatment of painful knee prostheses are limited.

Adult↗

Electron microscopical study in multiple epiphyseal dysplasia type II.

An electron microscopic examination of articular cartilage of two cases with multiple epiphyseal dysplasia type II was performed. The cartilage had a normal cell distribution and no signs of gross degeneration were found. Chondrocytes showed normal ultrastructural characteristics without dilation of the rough endoplasmic reticulum. The matrix contained normal banded collagen fibrils, proteoglycans, and aggregated fibrils.

Adolescent↗