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Biomedical subjects

R Pfeiffer

Publications and source records attributed to R Pfeiffer.

At least 91 records · Page 5Linked to original sources
PubMedDate not supplied

[Dwarfism in pericentric inversion of the X-chromosome].

We report on a 9 2/12 year old girl with pericentric inversion of the X-chromosome. It was diagnosed accidentally by a chromosome-analysis led through because of small stature. She bears a strong phenotypic resemblance to her mother (normal chromosomes), carrier of the pericentric inversion however is the phenotypically normal father. The breakpoint of the X-chromosome not lying within the critical region suggests that the patient will neither suffer a gonadal dysfunction. Both short stature and phenotypic dysmorphic features have familial cause.

Child↗
PubMedDate not supplied

Intravenous treatment with immunoglobulins may improve chronic undifferentiated mono- and oligoarthritis.

We previously reported on 8 young patients with undifferentiated mono- and oligoarthritis whose synovial tissue tested positive for Parvovirus B19 DNA by PCR. Three of these patients remained clinically undifferentiated and suffered from progressive inflammatory disease despite conventional therapy and repeated synovectomy. Intravenous treatment with immunoglobulin (0.4 g/kg body weight over 5 days) resulted in marked improvement in 2 of the 3 patients, allowing them to avoid repeated synovectomy during follow-up periods of 7 and 10 months, respectively.

Adolescent↗