A comparison between endoscopic and microscopic approaches for stapes surgery: experience of a tertiary referral center.

PURPOSE: Otosclerosis is a common ear disease causing ankylosis of the stapedio-vestibular joint and conductive hearing loss. Stapedoplasty is the most advisable surgical solution. The restoration of hearing depends on the condition of the patient and the surgery itself. The aim of our work was to compare the surgical and audiological results of stapedoplasty performed with endoscopic versus microscopic technique. METHODS: This is a retrospective study of 254 patients treated with stapedoplasty with a microscopic approach (91/254) or with an endoscopic approach (163/254) between 2014 and 2021 at our tertiary referral center. Statistical significance of differences between the two methods was determined using the Mann-Whitney test for quantitative variables and the Wilcoxon matched-pairs signed-rank test for repeated measures. Categorical variables were assessed with Fisher's exact test. RESULTS: Both techniques improved the hearing status of patients, with no statistically significant difference between them. There was also no statistically significant difference in reported complications between the two techniques. There is a statistical difference (p < 0.001) in operating time between the two techniques: the endoscopic technique had a mean operating time of 39 min versus 45 min for the microscopic technique. CONCLUSIONS: The two techniques are comparable in terms of results and the choice depends on the surgeon's preferences and experience.

The growth hormone response to hexarelin in patients with Prader-Willi syndrome.

Hexarelin (Hex) is a synthetic hexapeptide with potent GH-releasing activity in both animals and men. Aim of this study was to evaluate the GH response to a maximal dose of Hex and GH-releasing hormone (GHRH) in a group of patients with Prader-Willi syndrome (PWS). Seven patients (4 boys and 3 girls, age 2.4-14.2 yr) with PWS, 10 prepubertal obese children (7 boys and 3 girls, age 7.5-12.0 yr), and 24 prepubertal short normal children (11 boys and 13 girls, age 5.9-13 yr) with body weight within +/- 10% of their ideal weight were studied. All subjects were tested on two occasions with GHRH 1-29 at the dose of 1 microgram/Kg i.v., and with Hex at the dose of 2 micrograms/Kg i.v. In the PWS patients the GH response to GHRH (peak = 6.4 +/- 2.0 micrograms/l, p < 0.0001; AUC = 248 +/- 70 micrograms min/l, p < 0.0001) was significantly lower than that observed in the short normal children and similar to that observed in the obese children. In the PWS children the GH response to Hex (peak = 7.5 +/- 1.6 micrograms/l; AUC = 309 +/- 53) was similar to that observed after GHRH and significantly lower than that observed in the obese children (p < 0.05). The results of this study show that PWS patients have a blunted GH response to the administration of a maximal dose of Hex. Whether these findings reflect a more severe pituitary GH deficiency in PWS than in obese children or a deranged hypothalamic regulation of GH secretion need further investigation.

Pregnancy in patients with Turner's syndrome: six new cases and review of literature.

Pregnancy in women with Turner's syndrome (TS) is an exceptional event, but is possible in 2% of cases. It can occur in patients with structural anomalies of the X chromosomes in which the Xq13-q26 region, containing the genes that are thought to control ovarian function, is spared; or in patients with a mosaic karyotype containing an 46,XX cell line, which preserves ovarian function. In our Centre we observed six cases of women with Turner's syndrome conceiving. Out of 13 pregnancies, there were six abortions and eight live-births; among the latter, four babies exhibited malformations. Reviewing the literature shows that out of 160 pregnancies which occurred in 74 women with TS, 29% ended in spontaneous abortion, 7% led to the perinatal death of the fetus, 20% gave birth to malformed babies (TS, Down's syndrome, etc.) and only in 38% of cases were healthy children born. This study suggests that the rare TS patients who are able to procreate should undergo prenatal diagnosis techniques. In sterile TS patients the use of artificial fertilization techniques is a possible solution.

Trisomy 9 mosaicism syndrome. A case report and review of the literature.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.

[The usefulness of the skeleton in the diagnosis of malformation]. / Utilità dello scheletro nella diagnosi di malformazione.

Most malformation syndromes (70%) show evidence of skeletal anomalies, mainly in the vertebral bodies and in the bony segments of the limbs. This explains the importance of studying the skeleton when faced with any multi-malformation syndrome, using techniques like CT, MRI, echography and densitometry as well as standard radiology. To increase the quantity of information available for diagnostic purposes it would be profitable to create a data bank containing all the possible radiological findings encountered in the numerous multi-malformation syndromes.