Long-term results of laryngeal suspension and upper esophageal sphincter myotomy as treatment for life-threatening aspiration.

OBJECTIVES: We evaluated the long-term results of laryngeal suspension and upper esophageal sphincter (UES) myotomy in patients with life-threatening aspiration. METHODS: In the period 1995 to 2004, 17 patients with severe aspiration caused by insufficient laryngeal elevation and absent or negligible pharyngeal constrictor muscle activity during deglutition resulting in aspiration pneumonia were surgically treated with a laryngeal suspension procedure and UES myotomy. Preoperative and postoperative videofluoroscopy was performed to assess swallowing and aspiration. RESULTS: In 9 of the 17 patients, long-term (more than 1 year) full oral intake without aspiration was achieved. Three other patients demonstrated improvement of deglutition with partial restoration of oral intake with adjusted food consistency, but remained partly dependent on gastrostomy feeding for adequate nutrition. Two patients no longer had cases of aspiration pneumonia, but were unable to achieve even modified oral intake. Three patients finally underwent total laryngectomy--2 of them after initial successful full oral intake without aspiration but with recurrent aspiration as a result of progression of neuromuscular disease. None of the patients succumbed to aspiration pneumonia. CONCLUSIONS: In most of our patients, life-threatening aspiration was successfully treated by UES myotomy and laryngeal suspension with restoration of oral intake.

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis characterized by skin fibrofolliculomas and an increased risk of spontaneous pneumothorax, renal and possibly other tumors. A causative gene (FLCN) on chromosome 17p has recently been identified. We here report clinical and genetic studies of 20 BHD families ascertained by the presence of multiple fibrofolliculomas or trichodiscomas in the proband. Pathogenic FLCN germline mutations were found in 11 (69%) of 16 probands tested and in 14 family members. Six different FLCN germline mutations were detected, four of which have not been reported previously. The clinical features were variable. None and less than 10 skin lesions were observed in two mutation carriers at the age of 67 and 29 years, respectively. Spontaneous pneumothorax was reported in four and renal carcinoma of mixed histological types in two of 36 BHD-affected individuals and/or FLCN mutation carriers. Both the prevalence of spontaneous pneumothorax and renal tumors appeared to be relatively low compared with previously reported data. Various other extracutaneous tumors were observed in 11 of 36 BHD-affected individuals and/or FLCN mutation carriers. This study of the second largest cohort to date contributes to the expanding data on the variable phenotype and underlying gene defects in BHD.

Swallowing after major surgery of the oral cavity or oropharynx: a prospective and longitudinal assessment of patients treated by microvascular soft tissue reconstruction.

BACKGROUND: The aim of this study was to analyze swallowing outcome in advanced oral/oropharyngeal cancer patients treated with microvascular reconstructive surgery and adjuvant radiotherapy. METHODS: Eighty patients were included. Patient, tumor, and treatment factors were assessed. Postoperative videofluoroscopic swallowing studies (VFSS) and scintigraphy tests were performed at 6 (n = 54 vs 44) and 12 (n = 32 vs 37) months. Swallowing parameters such as the oropharyngeal swallow efficiency and the Penetration/Aspiration Scale were analyzed. RESULTS: Impaired swallowing status was found at 6 months, which remained stationary at 12 months. Comorbid condition, larger tumors (T3-T4 vs T2), and resections of the base of tongue and soft palate combined (vs defects of other dynamic structures) were associated with most profound swallowing problems (p < .05). CONCLUSIONS: Swallowing difficulties are relatively frequent and can to a large extent be predicted. With the knowledge of this study, better counseling and vigilance as to swallowing difficulties may be possible.