Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.

The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full-mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (±8.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes.

Transbronchoscopic pulmonary emphysema treatment: 1-month to 24-month endoscopic follow-up.

OBJECTIVE: Describe the results of a 1- to 24-month follow-up of individuals undergoing transbronchoscopic placement of one-way valves. DESIGN: Longitudinal, noncomparative study. SETTING: University hospital. PATIENTS: Nineteen heterogeneous emphysema patients. MEASUREMENTS AND RESULTS: Pulmonary function testing, imaging examination, and videobronchoscopy were performed at 1, 3, 6, 12, and 24 months after the insertion of one-way valves. Mean age was 67.63 +/- 8.71 years, mean body mass index (BMI) was 24.02 +/- 2.65, and mean exposure to smoking was 65.32 +/- 27.46 pack-years (+/- SD). Baseline BODE index (BMI, degree of airflow obstruction and dyspnea, exercise capacity as measured by the 6-min walk test [6MWT]) was 7 to 10 in 10 patients (estimated 4-year mortality, 80%) and 5 to 6 in 9 patients (estimated 4-year mortality, 40%). Sixty-four valves were inserted. There was no procedure-related mortality. Nonsustained atelectasis was observed within 48 h in 2 of 12 patients with right upper lobe occlusion. Fifty-six bronchoscopic examinations were performed in 24 months. Granulomas not requiring treatment were the main complication. Mucus clogging the valve, mainly at 1 month, was easily cleaned. Eighteen patients completed the 1- and 3-month follow-ups, 14 patients completed the 6-month follow-up, 11 patients completed the 12-month follow-up, and 5 patients completed the 24-month follow-up. Improvement was observed in the 6MWT after 1 month (p = 0.028) and in the BODE index at 3 months (p = 0.002). FEV1 or FVC improvement > or = 12% or > or = 150 mL was observed, respectively, in 4 of 18 patients and 8 of 18 patients at 1 month, 4 of 18 patients and 7 of 18 patients at 3 months, and in 3 of 14 patients and 5 of 14 patients at 6 months. After 24 months, one of five patients and three of five patients, respectively, retained an FEV1 and FVC change > or = 12% or > or = 150 mL. Significant improvement (decrease > or = 4%) in the St. George Respiratory Questionnaire was observed at 3 months and 6 months in three of four domains. CONCLUSION: Endobronchial valves are safe, but the criteria to measure improvement and to select patients should be refined. Atelectasis should be reconsidered as primary treatment goal.

O papel dos fatores genéticos na otite média / The role of genetic factors in otitis media

É sabido que a otite média aguda pode ser causada por fatores ambientais, como freqüentar creches, fumo passivo, curto período de amamentaçäo e baixas condiçöes sócio-econômicas. A revisäo das pesquisas recentes, contudo, sugere que fatores genéticos também contribuem de forma significativa para a ocorrência da otite média aguda, recorrente e da otite média crônica, com efusäo. Embora näo existam estudos genéticos específicos, há consistentes evidências em favor da transmissäo genética de uma suscetibilidade para otite média. A história familiar, características raciais, a freqüência de antígenos HLA e de marcadores genéticos, entre outros fatores, säo algumas das evidências que seräo apresentadas nesta revisäo de literatura.