Biomedical subjects
R Quinton
Publications and source records attributed to R Quinton.
Successful induction of fertility in a hypogonadotropic male.
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Unilateral renal aplasia in X-linked Kallmann's syndrome.
Unilateral renal agenesis is an uncommon association with Kallmann's syndrome (KS) (hypogonadotrophic hypogonadism and olfactory defect). We have investigated affected individuals from six pedigrees: five with X-linked KS, and one with X-linked KS and X-linked ichthyosis (XLI). Seventeen affected individuals have had renal imaging performed, and six scans demonstrated only one kidney. In addition, two pedigrees had males who died in the neonatal period with bilateral renal agenesis. Only two of the four affected individuals in the family with X-linked KS and X-linked ichthyosis (Pedigree 6) showed unilateral renal agenesis, despite all four patients demonstrating an interstitial deletion within the short arm of the X-chromosome. These data indicate that unilateral renal agenesis is much commoner than previously suspected in patients with X-linked Kallmann's syndrome, but that it may have incomplete penetrance within a family.
Medical therapy for recurring catamenial pneumothorax following pleurodesis.
BACKGROUND: Catamenial pneumothorax, a rare complication of systemic endometriosis, has been difficult to treat successfully. Successful medical therapy is associated with amenorrhea. CASE: A 44-year-old white woman with recurring catamenial pneumothorax underwent thoracotomy and abrasive pleurodesis. Following the procedures, pneumothorax occurred again and she was treated with the GnRH analogue leuprolide acetate, 3.75 mg monthly intramuscularly. After 6 months, her therapy was changed to continuous hormonal suppression with norethindrone, 0.7 mg/day. After 6 months of this therapy and into the third episode of vaginal bleeding, the patient had another recurrent pneumothorax. CONCLUSION: Leuprolide acetate followed by continuous hormonal suppression with norethindrone was successful for 1 year in resolving recurring postsurgical catamenial pneumothorax, but the problem recurred with the resumption of vaginal bleeding during progestin therapy. Successful medical therapy requires amenorrhea.
Renal AA amyloidosis in a patient with Bence Jones proteinuria and ankylosing spondylitis.
A patient with a 10 year history of monoclonal gammopathy of undetermined significance and Bence Jones proteinuria, and a 44 year history of ankylosing spondylitis, developed a nephrotic syndrome secondary to renal amyloidosis. Clinically the amyloidosis was ascribed to Bence Jones proteinuria rather than to the burnt out ankylosing spondylitis. However, histochemical and immunofluorescence staining techniques used to type the amyloid fibrils showed AA amyloidosis, implicating ankylosing spondylitis rather than monoclonal gammopathy as the underlying cause of the patient's systemic amyloidosis and consequent nephrotic syndrome. It is recommended that immunostaining of amyloid become a routine procedure to detect occult or apparently inactive disease.