Abstract Introduction Sensory deficits of the upper airways are common in people with Parkinson disease. Compounded by considerable deterioration of the swallowing function, these deficits may contribute to the elevated rates of morbidity and mortality among this population. Objective To examine the sensitivity of the vocal tracts of people with Parkinson disease using nasal videoendoscopy and to compare the results with paired controls. Methods The present was a prospective, observational, case-control study. Sensitivity assessments were conducted in a sample of 24 people divided into 2 groups: one group of 12 patients with Parkinson’s disease, and a control group with 12 healthy subjects. The study group also underwent a fiberoptic endoscopic evaluation of swallowing and answered the Swallowing Disturbance Questionnaire (SQD) to detect dysphagia. Results There was a significant difference (p < 0.05) in the region of the arytenoid cartilages, showing that sensitivity was better preserved among the control group, and that sensitivity deficits were present in the study group. The qualitative results showed sensorial impairment in the study group than in the control group regarding the base of the tongue, the vestibular folds, and the vocal folds. The study group showed self-awareness regarding the deficits in the swallowing function, but there was no statistically significant association between swallowing function deficits and deterioration of sensorial function among them. Conclusions Sensorial deficits were present in the study group when compared to the healthy subjects, mainly in the qualitative evaluation.

Background: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. Aim: To study the frequency of chromosomal aberrations in newborns with malformations. Patients and methods: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. Results: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. Conclusions: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously (Rev Méd Chile 2003; 131: 651-658)