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Biomedical subjects

P Borns

Publications and source records attributed to P Borns.

16 recordsLinked to original sources
PubMed1991

Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID).

Adenosine deaminase (ADA) deficiency may manifest as severe combined immunodeficiency (SCID) in early infancy. Some of these children develop radiologic changes which may be in part related to effects of this enzyme deficiency on the bony epiphysis. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEG-ADA, ADAGEN: Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.

Adenosine Deaminase↗
PubMed1979

The usefulness of lateral neck roentgenograms in laryngotracheobronchitis.

To evaluate the usefulness of lateral neck roentgenograms when laryngotracheobronchitis (LTB) is the suggested diagnosis, three pediatric radiologists were asked to examine a series of lateral neck roentgenograms of subjects with LTB and controls. In six of the group with LTB, the roentgenograms were unreadable. Given adequate roentgenograms, the radiologists diagnosed or excluded LTB with a high degree of accuracy (sensitivity, 93%; specificity, 92%). However, their predictions of severity based on the roentgenograms showed a poor correlation with measures of clinical severity. The clinical severity of those with unreadable roentgenograms was significantly greater.

Bronchitis↗
PubMed1975

Cystic fibrosis and hypertrophic osteoarthropathy in children. Report of three cases.

Three patients with cystic fibrosis were noted to have swelling of knee and ankle joints during exacerbation of their lung disease. Synovial fluid was analyzed in one patient and the synovium underwent biopsy in another. These studies excluded other causes of arthritis but did not contribute any new information on the nature of secondary hypertrophic osteoarthropathy. Radiological examination of long bones confirmed the diagnosis of hypertrophic osteoarthropathy in all three patients. Since many patients with cystic fibrosis survive longer, more instances of hypertrophic osteoarthropathy are expected in the future.

Adolescent↗
PubMedDate not supplied

Stickler's syndrome in the Cleft Palate Clinic.

Stickler's syndrome is a much underdiagnosed entity in the ophthalmic population. It is a dominantly inherited disease of connective tissue whose ocular findings include moderate to severe myopia, vitreoretinal degeneration, retinal detachments, cataracts, and glaucoma. Non-ophthalmologic findings include cleft palate, midfacial hypoplasia, radiographic changes of spondyloepiphyseal dysplasia, narrow pelvis, and broad femoral neck. Twenty percent of patients with Stickler's syndrome will have a cleft palate. We undertook a study to determine the incidence of Stickler's syndrome in patients with an isolated cleft palate, and to see if this screening process would be useful in making an early diagnosis of the syndrome and in genetic counseling. It is important to distinguish this syndrome from that of isolated cleft palate in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, cataract, and glaucoma; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).

Adolescent↗
PubMedDate not supplied

Cervical spondylolisthesis associated with the multiple nevoid basal cell carcinoma syndrome.

Cervical spondylolisthesis is a rate vertebral anomaly that has not been associated with other major congenital abnormalities. In a 16-year-old girl, lower cervical spondylolisthesis was associated with a multiple nevoid basal cell carcinoma syndrome. The salient features of cervical spondylolisthesis include occipital headache, nuchal rigidity, torticollis, painful range of limited motion, hypesthesia, and depressed deep tendon reflexes. The treatment in the patient was anterior vertebral body fusion. Awareness of this associated problem and prompt treatment are essential for prevention of neurologic loss.

Adolescent↗