RESUMO
Fluid media including sodium chloride 0.9% are used during operative hysteroscopy to provide uterine distension and aid visualisation. Volume overload is a known complication of their use but is usually associated with long procedures or uterine tissue dissection. A previously well 40-year-old woman presented for hysteroscopy and evacuation of retained products of conception under general anaesthesia. On emergence, she developed respiratory compromise and a hyperchloraemic metabolic acidosis in keeping with acute pulmonary oedema induced by sodium chloride 0.9% fluid overload. Anaesthetists must remain vigilant during operative procedures using distension media. Additionally, they should be familiar with the clinical and metabolic manifestations consistent with systemic transfusion of such media.
RESUMO
Congenital motor nystagmus (CN) is a relatively common genetic disorder (approximately 1 in 1500) characterized by bilateral involuntary ocular oscillations, with onset occurring within the first six months of life. To date, three loci associated with CN have been mapped to chromosomes 6p12, Xp11.4-p11.3, and Xq26-q27. We analyzed five pedigrees segregating for CN. Mapping studies using markers in these three regions showed that only one pedigree exhibited suggestive linkage with a lod score of 2.08, straight theta=0.0, at chromosome Xp11. This pedigree had both affected male and female members, with two unaffected obligate female carriers. The remaining four pedigrees did not exhibit evidence of linkage for any of the three chromosome locations. Three of the pedigrees, Pedigrees 2, 4, and 5, exhibited several instances of male-to-male transmission, excluding X-linkage, and exhibited a lod score of -3.82, straight theta=0.0, for marker D6S459 located at 6p12, thus excluding the chromosome 6 locus. This provides evidence for at least a fourth locus associated with CN.
