Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

OBJECTIVE: To characterize the patterns of hearing loss and methods of hearing rehabilitation in the UK national cohort of adults with Alström syndrome. STUDY DESIGN: Retrospective review of electronic patient records. SETTING: UK National multi-disciplinary team (MDT) Alström service held at the Queen Elizabeth Hospital, Birmingham. PATIENTS: Forty one adult patients with a diagnosis of Alström syndrome, confirmed via ALMS1 gene sequencing, are under ongoing review within the UK National MDT Alström service. MAIN OUTCOME MEASURES: Magnitude and type of hearing loss were analyzed using patients' audiometric data. Deterioration of hearing was calculated using serial pure tone audiograms. Methods of hearing rehabilitation used by patients and potential candidacy for cochlear implantation were analyzed. RESULTS: Of 34 patients with available audiograms, all had sensorineural hearing loss (SNHL). Dual sensory (visual and hearing) loss was present in 32/34 (94%) patients. Hearing deteriorated with advancing age, at 1.23 dB/yr. Severe- profound SNHL was present in 9/34 (26%) cases. Air conduction hearing aids were used in 27/34 (79%) cases, and cochlear implants in 2/34 (5%). CONCLUSIONS: Alström syndrome is an ultra-rare genetic disorder with progressive, debilitating multi-system manifestations, including SNHL. The UK National MDT Alström service represents one of the largest reported adult cohorts in the world. SNHL in this group was ubiquitous, showing a rapid decline in hearing with age. Annual audiometric assessment to enable early diagnosis of hearing loss and optimum rehabilitation are paramount to minimize the impact of hearing loss in this condition.

Outcomes of home parenteral nutrition in 34 patients with intestinal failure from recurrent or progressive peritoneal malignancy of gastro-intestinal tract origin.

OBJECTIVES: To investigate the outcomes of 34 patients with intestinal failure secondary to advanced peritoneal malignancy on home parenteral nutrition (HPN). METHODS: A retrospective analysis of all known patients receiving HPN at any time between January 2012 and the 31st March 2020 registered in a high volume peritoneal malignancy surgical centre database. RESULTS: The median duration of HPN for all patients was 309.5 days (range 31-2198). Overall 11/34 went on to have multivisceral transplants. Of these 5/11 resumed normal oral intake off HPN, 3 died and 3 required ongoing HPN. Average time on HPN for patients with pseudomyxoma peritonei of appendix origin was 338 days (71-2198) compared with 90 days (31-260) in the group with more aggressive tumours. CONCLUSIONS: HPN is feasible and effective in selected patients with pseudomyxoma peritonei as either a bridge to transplant or definitive treatment. As expected, patients with more aggressive tumours fare worse.