Banca de QUALIFICAÇÃO: HENRIQUE DE PAULA BEDAQUE

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : HENRIQUE DE PAULA BEDAQUE
DATE: 03/11/2025
TIME: 08:00
LOCAL: REMOTA
TITLE:

OTORHINOLARYNGOLOGICAL FINDINGS IN PATIENTS WITH BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY: A CASE-CONTROL STUDY

KEY WORDS:

Otolaryngology; Lipodystrophy; Sleep Apnea; Rhinitis; Body Mass Index.

PAGES: 9
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

Purpose

This study investigates otorhinolaryngological (ENT) alterations in patients with Berardinelli-Seip congenital lipodystrophy (CGL), a rare autosomal recessive disorder characterized by generalized absence of adipose tissue. The research aims to identify specific ENT findings in CGL patients compared to healthy controls matched by age and sex, addressing a gap in the literature regarding ENT manifestations in this population.

Methods

A cross-sectional, observational case-control study was conducted from July 2023 to July 2025. Twenty genetically confirmed CGL patients were matched with healthy volunteers. Data collection included sociodemographic profiles, clinical ENT symptoms, physical examinations, nasofibroscopy, and the Connecticut Olfactory Test.

Results

Significant differences were found in BMI (p=0.01) and diabetes prevalence (75% in CGL vs. 5% in controls). ENT symptoms such as rhinitis, dizziness, and tinnitus showed comparable prevalence between groups. However, Modified Mallampati scores indicated a higher risk of obstructive sleep apnea in CGL patients (40% with grade IV). Olfactory discrimination was significantly reduced in the CGL group (p=0.01), though intensity and overall scores showed no statistical difference.

Conclusion

CGL patients exhibit distinct otorhinolaryngological features, notably altered Modified Mallampati scores and reduced olfactory discrimination, suggesting structural and sensory implications of the disease. These findings highlight the need for targeted ENT evaluation and further research into sleep-related and sensory complications in CGL.

COMMITTEE MEMBERS:
Externo ao Programa - 2495698 - JOSE DINIZ JUNIOR - nullPresidente - 1451614 - JOSIVAN GOMES DE LIMA
Externa ao Programa - 1639565 - LIDIANE MARIA DE BRITO MACEDO FERREIRA - null