Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. It is not known how many genes contribute to this phenotype. Previous studies have shown that a balanced translocation disrupts sequences within the shortest region of deletion overlap for DiGeorge syndrome. A P1 clone was isolated which spans this breakpoint and used to isolate a cDNA encoding a transmembrane protein expressed in a wide variety of tissues. This gene (called IDD) is not disrupted by the translocation, but maps within 10 kb of the breakpoint. Mutation analysis of five affected cases with no previously identified chromosome 22 deletion was negative, but a potential protein polymorphism was discovered. No deletions or rearrangements were detected in these patients following analysis with markers closely flanking the breakpoint, data which emphasize that large (i.e. over 1 Mb) interstitial deletions are the rule in DiGeorge syndrome. The proximity of IDD to the balanced translocation breakpoint and its position within the shortest region of deletion overlap indicate that this gene may have a role, along with other genes, in the CATCH22 haploinsufficiency syndromes.
Retinopathy of prematurity (ROP) is a well-known clinical entity in premature babies. We report two patients (1 and 2) with regressed ROP who later presented with retinoblastoma (RB). To the best of our knowledge, there is only one such report in the literature so far. Two unrelated patients 1 and 2, born at 32 weeks gestation were screened for ROP at 34 weeks gestation. This showed Zone II Stage II ROP which regressed by 38 weeks of gestation on follow-up. Both patients were lost to follow-up by 40 weeks of gestation. They presented at four years of age with white reflex in the eye. Patient 1 was found to have unilateral and patient 2 bilateral RB. The occurrence of RB in these patients with regressed ROP is probably coincidental.
Co-trimoxazole is a commonly used drug in the treatment and prophylaxis of opportunistic infections in HIV seropositive patients. We report a case of a 35-year-old HIV-infected man who presented with blurring of vision one week following initiation of co-trimoxazole therapy. A diagnosis of co-trimoxazole-induced myopia, a known idiosyncratic drug reaction, was made. The drug was withheld and the myopia resolved completely. Although in this patient the ocular condition resolved completely, serious ocular adverse reactions have also been reported with co-trimoxazole. This case report highlights the occurrence of ocular adverse drug reactions (ADRs) in HIV-infected patients on co-trimoxazole and the complexity of drug interactions.
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