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Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 19 recordsLinked to original sources
PubMed1995

[TNF-alpha level in the vitreous body. Increase in neovascular eye diseases and proliferative diabetic retinopathy].

BACKGROUND: Deficient retinal capillary perfusion results in angioneogenesis of the eye. Its extension depends on the degree of ischemia. Mild stages are restricted to the retina, while marked ischemia results in neovascularization of the iris (rubeosis iridis). The neovascularization may be induced by the release of growth factors into the vitreous. Tumor necrosis factor alpha seems to be an important angiogenetic growth factor. PATIENTS AND METHODS: The patients were divided up into three groups with different retinal stages of ischemia, as judged by the extension of new vessel formation of the eye: a control group without angioneogenesis, a diabetes group with less severe to moderate angioneogenesis of patients with proliferative diabetic retinopathy and a rubeosis group with massive angiogenesis (rubeosis iridis) resulting from different causes. TNF-alpha was determined by immunological methods. RESULTS: The TNF-alpha level of vitreous in rubeosis (25.8 pg/ml; n = 6) was 2-fold elevated compared to controls (13.1 pg/ml; n = 10; p < 0.05) and 1.4-fold elevated compared to the diabetes group (18.2 pg/ml; n = 17). The values ranged from unmeasurable values to 41.25 pg/ml. Within the rubeosis group similar changes were observed independently of the causes of ischemia. There was no correlation between TNF-alpha-levels in the diabetes group and serum creatinine. CONCLUSIONS: 1. TNF-alpha is upregulated in ischemia. 2. TNF-alpha seems to be a mediator of angiogenesis in the eye. 3. Changes in diabetes may be secondary to local ischemia rather than being specific for diabetic retinopathy.

Adult↗
PubMed1994

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

Osteoarthrosis represents a very common disease with heterogeneous etiology. In some pedigrees linkage of the condition with the type II collagen gene (COL2A1) has been established, but information on the underlying gene defect is still incomplete as only one mutation causing this phenotype has been identified. We analyzed the COL2A1 gene in a 27-year-old woman and her 47-year-old mother presenting with severe premature osteoarthrosis and X-ray signs compatible with mild spondyloepiphyseal dysplasia. Examination of the complete gene in both patients was done by amplification of all 54 exons, screening of the PCR products by SSCP-analysis, and subsequent sequencing. In mother and daughter a G to A transition at the 5'-end of exon 21 was detected, leading to a substitution of serine for glycine at position 274 of the triple helical domain. The mutation was not present in unaffected family members or in healthy control individuals. The autosomal dominant spondylarthropathies may represent the less severe entities of the clinical spectrum of type II collagenopathies.

Adult↗
PubMed1994

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism associated with cleft palate, progressive arthropathy, myopia and retinal detachment. In the first patient the disorder was caused by a 28 base pair exon 12/intron 12 deletion in the gene coding for type II collagen. Her mother had mild abnormalities of the vertebral bodies and long bones compatible with abnormalities seen in Stickler arthro-ophthalmopathy. The second child had a transition of AG to GG at the 3' splice site of intron 20 of the COL2A1 gene. Her father had premature polvarthrosis interpreted as a sequela of mild spondyloepiphyseal dysplasia. Molecular studies revealed that the mother of the first and the father of the second child each had somatic mosaicism of the same mutation as their children. Heterozygous mutations of the gene coding for type II collagen can cause Kniest dysplasia, and somatic mosaicism for the same mutations can result in the Stickler phenotype or in mild spondyloepiphyseal dysplasia leading to premature polyarthrosis.

Adult↗
PubMed1992

Osteogenesis imperfecta: a clinical study of the first ten years of life.

One hundred twenty-seven children with osteogenesis imperfecta (O.I.) were studied during the first 10 years of life. According to Sillence, 40 patients were assigned to type I, 39 to type III, and 48 to type IV O.I. Centiles for height, weight, and the annual number of fractures could be established for the different types of O.I. The development of the skeletal changes could be documented for the different forms of the disease. At birth, the skeletal changes were significantly more severe in type III than in type IV patients. During the first 10 years of life the number of fractures, extent of skeletal deformities, and growth retardation did not differ between types III and IV. Only fracture nonunion, dentinogenesis imperfecta, and congenital cardiac malformations were more frequent in type III than in type IV. Papillary calcifications of the kidney and kidney stones were diagnosed in 4 type III and 2 type IV patients. Hemihypertrophy of the body developed in 2 type I patients. Although types III and IV patients suffered from severe short stature, serum insulin-like growth factor (IGF) I was in the normal range.

Body Height↗
PubMed1991

The spondylometaphyseal dysplasias. A tentative classification.

The spondylometaphyseal dysplasias constitute a very complex group of disorders. In addition to the Kozlowski type, three subgroups can be distinguished by the appearance of the femoral neck. In the first group (A) the changes are severe with absent ossification of the femoral neck and coxa vara. In the second group (B) the changes of the femoral neck are moderate and in the third (C) mild metaphyseal irregularities are only visible. This classification is not definitive but tries to put order in this confusing section of constitutional bone diseases.

Adolescent↗
PubMed1991

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.

Antigens, CD↗
PubMed1991

Genetic disorders of connective tissues.

Due to the growing knowledge of structure and function of extracellular matrix proteins, congenital abnormalities of connective tissues are identified or suspected in an increasing number of clinical disorders. In osteogenesis imperfecta and two subtypes of Ehlers-Danlos syndrome, the affected matrix proteins were identified and mutations in the corresponding genes (procollagen type I and type III, respectively) could be demonstrated. Some forms of chondrodysplasia were shown to be associated with mutations in the gene encoding for the cartilage-specific collagen (type II). In part, the clinical phenotype is determined by the tissue-specific distribution of these collagens. However, the correlation of location and character of the mutation to the phenotype is only just emerging and remains unpredictable in most cases. Recent findings suggest the mutations in matrix genes may be causative not only for rare pediatric diseases but also for more common disorders such as osteoarthritis or aortic aneurysms.

Collagen↗
PubMed1990

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.

Abnormalities, Multiple↗
PubMed1990

Stippled epiphyses in fetal alcohol syndrome.

We report on punctate epiphyseal calcifications (stippled epiphyses) in the fetal alcohol syndrome and present the differential diagnosis of chondrodysplasia punctata. A literature survey shows that epiphyseal calcifications accompanying alcoholic embryopathy are regularly located in the lower limbs and rarely found in the upper extremities.

Calcinosis↗