Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.

Cohort study of adult patients with haemoglobin SC disease: clinical characteristics and predictors of mortality.

Haemoglobin (Hb) SC disease is the second most common subtype of sickle cell disease and is potentially fatal. This study aimed to determine the clinical characteristics, outcome and predictors of mortality in HbSC disease patients, and to compare these findings with patients followed-up in different centres. Clinical, laboratory and outcome data were collected from a cohort of adult patients with HbSC disease followed between 1991 and 2103. Cox regression multivariate analysis was used to determine predictors of mortality. One hundred and fifty-five patients were followed-up over 20 years: 9% died and 70·8% had at least one complication. The most common complications were: painful crises (38·3%), retinopathy (33·8%), cholelithiasis (30·3%), osteonecrosis (24·8%) and sensorineural hearing disorders (9·7%). Frequency of chronic complications was similar in most studies. In multivariate analysis, hearing disorders remained an independent predictor of mortality (Odds Ratio 9·26, 95% confidence interval 1·1-74·8; P = 0·03). It was concluded that patients with HbSC disease receive a late diagnosis and there is remarkable similarity between the studies conducted in different centres around the world. Sensorineural hearing disorders were an independent predictor of mortality, suggesting that it may be useful to implement routine diagnostic screening.

How we do it: Local anaesthetic cochlear implantation.

OBJECTIVES: To review a patient series of 16 cochlear implantations performed under local anaesthetic (LA), including a description of the centre's technique for this procedure. We also describe the application of a method for calculation of the potential morbidity/mortality avoided by using this technique. METHODS: Chart review of 16 patients' pre-operative medical and anaesthetic notes and calculation of predicted individual P-POSSUM Scores for operative morbidity/mortality. RESULTS: All 16 patients were implanted successfully with no significant complications. Age range was 26-92 years, with an average of 68 years. The patients' average predicted mortality score associated with a general anaesthetic (GA) was 8.6% and morbidity score was 58%. CONCLUSIONS: Our experience shows LA cochlear implantation to be a safe and effective procedure. It has the benefit of avoiding the operative mortality risk predicted by P-POSSUM Scores. Cochlear implantation is known to significantly improve quality of life for users. Our findings suggest a potential group of cochlear implant recipients considered 'unfit' for GA may be being denied access to this intervention or being exposed to additional risk.

Increased risk of getting sudden sensorineural hearing loss in patients with chronic kidney disease: a population-based cohort study.

OBJECTIVES/HYPOTHESIS: To examine the risk of getting Sudden Sensorineural Hearing Loss (SSHL) among patients with chronic kidney disease (CKD). STUDY DESIGN: A retrospective cohort study. METHODS: Population-based representative insurance claims data were used to examine the risk of getting SSHL among patients with chronic kidney disease. Data extracted from the Taiwan National Health Insurance Research Database yielded 37,421 patients with newly diagnosed renal insufficiency and 37,421 subjects without renal insufficiency from between 2000 and 2004. RESULTS: The incidence of SSHL at the end of 2009 was determined. The incidence of SSHL was 1.57 times higher in the CKD-carrying group compared to the incidence in the non-CKD group (10.24 vs. 6.52 per 10,000 person-years), with adjusted hazard ratio (HR) of 1.46 (95% CI = 1.194-1.787) using Cox proportional hazard regressions. Age was an independent risk factor of getting SSHL, with adjusted HRs of 2.01, 3.178, and 2.285 for age ranges of 35 ≈ 49, 50 ≈ 64 and ≥ 65 compared with age range of 0 ≈ 35. Diabetes Mellitus was another independent risk factor with HR of 1.31 (95% CI = 1.003-1.711). CONCLUSIONS: Present results suggested a significant association between CKD and increased risk of getting SSHL. Comorbidity of diabetes in patients with CKD appeared to be associated with increased risk of getting SSHL, especially for the patients who are 35 years of age and older.

Differences in Ototoxicity across Species.

OBJECTIVE: To illustrate some differences between humans and rodents in the dose-effect relationships for two ototoxic drugs. STUDY DESIGN: Controlled animal study using typical research regimens for gentamicin and cisplatin compared with human data from the clinical literature. METHODS: Auditory brainstem response testing was carried out over months in two groups of animals exposed to typical dose regimens for ototoxic drugs. In the first group, 30 guinea pigs received either 3 or 6 mg/kg of cisplatin on alternate days for 5 days (total dose 15 or 30 mg/kg). In the second group, 24 C57 mice received saline or 19 daily doses of gentamicin 120 mg/kg. The findings in rodents were contrasted with human toxicity in the literature. RESULTS: Cisplatin increased click thresholds (32 +/- 27 dB) in guinea pigs. Doses of 15 mg/kg caused less hearing loss than 30 mg/kg, but the higher dose was associated with greater mortality owing to renal insufficiency. These findings are comparable with expectations of similar doses of cisplatin in humans. In contrast, gentamicin produced less hearing loss in mice, although the dose employed was well above the lethal dose for humans. CONCLUSIONS: Ototoxic doses of cisplatin in guinea pigs are similar to those of humans, but C57 mice appear to be highly resistant to gentamicin-induced hearing loss compared to humans. Animal models of ototoxicity need to be considered carefully in translational research.

Evaluación del seguimiento auditivo del recién nacido prematuro extremo en el Hospital San Juan de Dios / Evaluation of auditory follow-up in extreme premature newborns at the San Juan de Dios hospital

La hipoacusia sensorioneural profunda a severa tiene una incidencia de 1 a 2 por ciento en recién nacidos con factores de riesgo. El objetivo del presente trabajo es evaluar el seguimiento auditivo de los recién nacidos prematuros extremos del Hospital San Juan de Dios. Entre 1995 y 1997 nacieron 214 niños de estas características, sobreviviendo 141. De estos niños sólo en un 60 por ciento se realizó examen de potenciales auditivos evocados; de estos exámenes, un 61 por ciento umbral superior a 30 dB HL. De los 141 niños que sobrevivieron, se logró realizar 35 audiometrías sin pesquizar hipoacusia sensorioneural. Se concluye que el programa en uso no es efectivo, proponiéndose un nuevo esquema de evaluación