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P Rogala

Publications and source records attributed to P Rogala.

At least 19 recordsLinked to original sources
PubMed2001

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous, partially because of its complex genetic background. Mutations in four genes, COL9A2, COL9A3, COMP, and MATR3, all coding for cartilage extracellular matrix components (i.e., the alpha2 and alpha 3 chains of collagen IX, cartilage oligomeric matrix protein, and matrilin-3), have been identified in this disease so far, but no mutations have yet been reported in the third collagen IX gene, COL9A1, which codes for the alpha1(IX) chain. MED with apparently recessive inheritance has been reported in some families. A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella. The series consisted of 41 probands with MED, 16 of whom were familial and on 4 of whom linkage analyses were performed. Recombination was observed between COL9A1, COL9A2, COL9A3, and COMP and the MED phenotype in two of the families, and between COL9A2, COL9A3, and COMP and the phenotype in the other two families. Screening of COL9A1 for mutations in the two probands from the families in which this gene was not involved in the recombinations failed to identify any disease-causing mutations. The remaining 37 probands were screened for mutations in all three collagen IX genes and in the COMP gene. The probands with talipes deformities or multipartite patella were also screened for the R279W mutation in DTDST. The analysis resulted in identification of three mutations in COMP and one in COL9A1, but none in the other two collagen IX genes. Two of the probands with a multipartite patella had the homozygous DTDST mutation. The results show that mutations in COL9A1 can cause MED, but they also suggest that mutations in COL9A1, COL9A2, COL9A3, COMP, and DTDST are not the major causes of MED and that there exists at least one additional locus.

Adolescent↗
PubMed2001

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].

Chondrodysplasias are a heterogenous group of skeletal dysplasias, affecting the growing cartilage. The main part of chondrodysplasias is caused by mutations in various types of collagen genes. The current classification within this group of disorder relies on clinical, histological and radiographic features. Type II collagenopathies comprise part of chondrodysplasias, consisting of hereditary disorders caused by defects in the type II collagen. Collagen type II is coded by a large gene--COL2A1. The chromosomal location for the human COL2A1 gene is 12q13.11-q13.12. Defects in collagen type II are caused by point mutations in the COL2A1 gene. Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Marshall syndrome, to the mild forms--Stickler syndrome and early osteoarthritis. The pathological changes in the patients are observed in the growth plate, nucleus pulposus and vitreous body, where the abnormal collagen type II is distributed. This article presents the genetic background of collagenopathies type II and the results of current molecular studies of the patients. Both the molecular and the clinical studies may promise a better understanding of the relationship between the genotype and the phenotype. We present the patients, who were diagnosed at the Department of Medical Genetics and in the Orthopaedic Department in Poznań.

Collagen↗
PubMed1999

[Complications after joint endoprosthesis for treatment of locomotor system neoplasms].

The authors present most common complications after tumor related joint replacement. Twenty-six patients (9 females, 17 males) have been operated on (mean age 22.5 years). In 19 cases osteosarcoma was diagnosed, Ewing sarcoma in 4 and there were 3 cases of chondrosarcoma. Postoperatively, superficial skin necrosis occurred in 4 patients but healed in four weeks, full-thickness skin necrosis in 2 and in 2 cases wound infection resulted in septic loosening of endoprosthesis. The number of infections in our patients was low but caused delay of chemotherapy and need for revision of the infected joint.

Adult↗
PubMed1998

[Massive allogenic bone grafts in reconstructive surgery after local resection of malignant bone tumor].

A series of 11 patients (5 females, 6 males) aged 11 to 43 years (mean 19.5 years) with primary malignant bone tumor is presented. MRI and CT served to determine the exact tumor invasion within soft tissues and medullar cavity. Prior to the surgery IIB stage (Enneking) was established in all cases. Chemotherapy was used in 7 cases, radiotherapy in 1. Local excision of the tumor was followed by implantation of massive frozen bone graft. Fixation was achieved with intramedullary nails, screws, AO plates or Martin external fixator. Follow-up ranged from 2 years 4 months to 5 years 2 months (mean 3 years 6 months). Adjuvant pre- and post-operative chemotherapy allowed for limb salvage and excision procedure with massive allograft to fill the defect. One patient died due to dissemination of the neoplastic disease, remaining 10 are alive with no symptoms of metastases. Stable osteosynthesis allows for early axial weight bearing and fast rehabilitation of the limb.

Adolescent↗
PubMed1996

[Long-term results of treatment for chondrosarcoma].

A series of 24 patients treated for chondrosarcoma between 1974 and 1991 is presented and compared with findings on patients treated from 1947 to 1973. Eleven patients were treated surgically alone, 7 were submitted to combined therapy (surgery and chemotherapy), in 6 cases palliative treatment was used. The survival after surgery ranged from 6 months to 23 years. Eleven patients died within 1 year after operation. Four patients lived longer than 5 years. Early diagnosis and treatment were prerequisites for good result. Radical resection of the tumor combined with chemotherapy resulted in extending patient's life; amputation had no such effect.

Adult↗
PubMed1995

[Clinical heterogeneity of myelomeningocele as evidence of multisite closure of the neural tube].

Eighty-two patients treated surgically for myelomeningocele or myelodysplasia between 1945 and 1993 are presented. Family and environmental history has been studied. The presence of genetic markers (HLA B27, ABO, Rh) has been investigated. Heterogenicity of localization and type of defect in the series reviewed has been found. Associations between certain genetic features confirm multisite mechanism of closure of the neural tube. The relationship between site of neural tube defect and concurrence of developmental defects has been substantiated. A higher site often results in multiple defects.

ABO Blood-Group System↗
PubMed1993

[Type IV Ehlers-Danlos syndrome].

Two patients with Ehlers-Danlos type IV syndrome have been presented. Disorders of the musculoskeletal system, skin and vessels as well as concomitant anomalies within gastrointestinal tract have been delineated. The mode of inheritance and orthopedic management have been discussed.

Adolescent↗