[Trisomy 21 by translocation (21q,21q) in two sibs of a mother with a supernumerary microchromosome (author's transl)].
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Biomedical subjects
Publications and source records attributed to L Badia.
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Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA-and GTG-banding, are presented along with a complete study of both families. In the second case a 3 : 1 segregation is associated with an unbalanced 2 : 2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.
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A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.
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OBJECTIVE: To compare the efficacy of prophylactic vs postoperative antibiotic use in complex septorhinoplasty and strengthen the evidence base for antibiotic use in nasal surgery. DESIGN: A randomized, prospective, single-blinded trial. One hundred sixty-four patients requiring complex septorhinoplasty surgery were recruited sequentially from the waiting lists of the 2 senior authors. Power was calculated at 80% at the 5% significance level. Patients randomized to the prophylactic arm of the study received three 1200-mg intravenous doses of amoxicillin-clavulanate, given at induction of anesthesia and at 6 and 12 hours postoperatively. Patients in the postoperative antibiotic arm received a 7-day course of 375 mg of amoxicillin-clavulanate 3 times a day. Patients allergic to penicillin were given erythromycin. Clinical and microbiological evidence of infection on the 10th postoperative day was categorized as either minor (vestibulitis) or major (nasal or septal cellulitis, septal abscess, secondary hemorrhage, or donor-site infection) infections. RESULTS: At follow-up, 6 (7%) of 82 patients in the prophylactic arm and 9 (11%) of 82 of patients in the postoperative arm showed evidence of infection. Most (80%) of infections were minor. There was no significant difference in infection rates between the prophylactic and postoperative arms on chi2 analysis (P = .42). All 164 patients completed the study on an intention-to-treat basis. CONCLUSION: We recommend the use of prophylactic antibiotics rather than empirical postoperative antibiotics for patients undergoing complex septorhinoplasty.
Endoscopic sinus surgery has become the standard of care for the surgical management of chronic sinus disease. Sinus disease and its surgical treatment carry the risk of orbital complications, irrespective of the approach. Orbital complications associated with sinus surgery include nasolacrimal duct damage, extraocular muscle injury, intraorbital hemorrhage/emphysema, and direct optic nerve damage, resulting in blindness. The finding of an unequal pupil at the end of a procedure would be a cause of considerable concern, but it is most likely due to the topical contamination of the eye with a mydriatic pharmacological agent commonly used in endoscopic sinus surgery.
The objective of this paper is to determine whether there is a relationship among obesity, gender, and the risk of development of primary spontaneous cerebrospinal fluid (CSF) rhinorrhea. A retrospective case review of all the patients with CSF rhinorrhea treated at our unit over a 10-year period is presented. From a series of 20 patients, we studied 9 cases of primary spontaneous CSF rhinorrhea; 6 patients were female (mean age 50 +/- 10 years) and 3 male (mean age 61 +/- 7 years). All the female patients were clinically obese, i.e., they had a body mass index >30 kg/m2. All the male patients had a body mass index within normal parameters. We review the postulated etiologic factors of this uncommon condition and study the pathophysiologic basis for obese patients to have CSF rhinorrhea. This study suggests a relationship between obese females and the risk of developing a primary spontaneous CSF rhinorrhea.