Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery.

Background: Mucopolysaccharidoses (MPSs) are rare congenital lysosomal storage disorders due to a deficiency of enzymes metabolising glycosaminoglycans, leading to their accumulation in tissues. This multisystem disease often requires surgical intervention, including valvular cardiac surgery. Adult MPSs have complex airways making anaesthesia risky. Methods: We report novel three-dimensional (3D) modelling airway assessments and multidisciplinary peri-operative airway management. Results: Five MPS adults underwent cardiac surgery at the national MPS cardiac centre (type I = 4, type II = 1; ages 20, 24, 33, 35, 37 years; two males, three females). All had complex airway abnormalities. Assessments involved examination, nasendoscopy, imaging, functional studies, 3D reconstruction, virtual endoscopy, virtual reality and simulation using computerised, physical modelling. Awake oral fibre-optic intubation was achieved via airway conduit. Staged extubation was performed on the first post-operative day under laryngo-tracheoscopic guidance. The post-operative period involved chest physiotherapy and occupational therapy. All patients had safe intubation, ventilation and extubation. Four had good cardiac surgical outcomes, one (MPS type I; age 35 years) was inoperable due to endocarditis. None had post-operative airway complications. Conclusions: Expertise from cardiovascular-heart team, multidisciplinary airway management, use of novel techniques is vital. Traditional airway assessments are insufficient, so ENT input, radiology and computerised methods to assess and simulate the airway in 3D by collaboration with clinical engineering is essential.

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.

Mucopolysaccharidoses (MPS) are rare lysosomal storage diseases characterized by multiorgan involvement and shortened longevity. Due to advances in therapies such as enzyme replacement therapy and haematopoietic stem cell therapy, life expectancy has increased posing newer challenges to patients and health professionals. One such challenge is cardiovascular manifestations of MPS, which can be life limiting and cause reduction in quality of life. Any cardiovascular intervention mandates comprehensive, multi-systemic work-up by specialist teams to optimize outcome. We highlight the importance of multidisciplinary evaluation of adult MPS patients requiring cardiovascular intervention. Clinical assessments and investigations are discussed, with a focus on the cardiac, anesthetic, airway, respiratory, radiological and psychosocial factors.

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.

Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span. Adult MPS patients require specialist clinical surveillance long-term. In many cases, in addition to the MPS-related health problems, they may develop age-related complications. Considering the complexity of their clinical manifestations and lack of guidelines on the management of adult MPS disorders, multispecialty and multidisciplinary teams' care is essential to diagnose and treat health problems that are likely to be encountered. This review presents non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients.

Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis.

BACKGROUND: Mucopolysaccharidosis (MPS) is a rare congenital lysosomal storage disorder with complex airways. High anterior larynx is assessed by thyromental distance (TMD) nasendoscopy. A simpler method to assess this hyoid bone is described. The distance between the central-hyoid and symphysis of the mandible (hyo-mental distance; HMD) and inclination of this line to the horizontal axis (hyo-mental angle; HMA) in neutrally positioned patients is investigated. METHODS: HMA, HMD in MPS, and non-MPS were compared, and their correlation with height and weight were assessed. RESULTS: 50 adult MPS patients (M = 32, F = 18, age range = 19-66 years; mean BMI = 26.8 kg/m2) of MPS I, II, III, IV, and VI were compared with 50 non-MPS (M = 25, F = 25; age range = 22-84 years; mean BMI = 26.5 kg/m2). Mean HMA in MPS was 25.72° (-10 to +50) versus 2.42° (-35 to +28) in non-MPS. Mean HMD was 46.5 (25.7-66) millimeters in MPS versus 41.8 (27-60.3) in non-MPS. HMA versus height and weight showed a moderate correlation (r = -0.4, p < 0.05) in MPS and no significant correlation (r < 0.4, p > 0.05) in non-MPS. HMD versus height and weight showed no correlation (r < 0.4, p > 0.05) in both groups. CONCLUSIONS: HMA seems more acute in MPS despite nearly the same HMD as non-MPS, signifying a high larynx, which may be missed by TMD.

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.

(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs). GAGs deposition in tissues leads to progressive airway narrowing and/or tortuosity. Increased longevity of patients has posed newer problems, especially the airway. This study aims to characterise various airway abnormalities in adult MPS from a regional centre and proposes a method to quantify the severity of the airway disease. (2) Methods: Retrospective analysis by case notes review, clinical examination, endoscopy, cross-sectional imaging, 3-dimensional reconstruction, and physiological investigations were used to assess the airway abnormalities. Quantitative assessment of the airway severity was performed a validated questionnaire of 15 parameters to derive Salford Mucopolysaccharidosis Airway Score (SMAS). (3) Results: Thirty-one adult MPS patients (21M/ 9F; median 26.7 years; range 19-42 years) were reviewed. There were 9 MPS I, 12 MPS II, 2 MPS III, 5 MPS IV, 2 MPS VI, and 1 MPS VII. Airway abnormalities in each MPS type are described. Patients scoring more than 35 on SMAS had some form of airway intervention. The area under curve of 0.9 was noted at a score of 25, so SMAS more than 25 may predict a difficult airway and potential to have complications. Pearson's correlation between SMAS and height, weight, BMI were poor (p < 0.05). (4) Conclusions: Airway abnormalities in adult MPS are varied and complex. Assessment of the airway should be holistic and include multiple parameters. An objective multidimensional score such as SMAS may help to predict and manage difficult airways warranting further investigation and validation.

Voice burden in teachers and non-teachers in a UK population: A questionnaire-based survey.

OBJECTIVE: To characterise the burden of voice disorders in teachers in a UK population, compare it with non-teachers and identify groups of teachers who may be particularly at risk of developing a voice problem. DESIGN: Questionnaire-based survey of primary and secondary school teachers and non-teachers. Questions consisted of general demographics, VHI-10 and questions relating to voice problems. METHODS: Distribution of questionnaires to teachers and non-teachers and statistical analysis of the responses. SETTING: University teaching hospital. PARTICIPANTS: Teachers and non-teachers in a region of North West England. MAIN OUTCOME MEASURES: Identification of risk factors for voice problems in teachers, compared to non-teachers. RESULTS: A total of 210 primary and 244 secondary school teachers and 304 non-teachers participated in the questionnaire survey. Response rates were 67.9% from primary schools, 41.2% from secondary schools and 40.0% from the non-teachers. 30.0% of teachers and 9.0% of non-teachers had reported problems with their voice. 12.8% of teachers and 2.0% of non-teachers had missed work due to voice problems. 14.1% of teachers and 5.3% non-teachers had seen a general practitioner for voice-related problems, whilst 7.1% of teachers and 6.3% of non-teachers had been referred to an otolaryngologist or speech therapist for voice problems. Factors related to VHI-10 (P < .05) were identified. CONCLUSIONS: Voice disorders are an occupational health problem for teachers, with a significant burden of these disorders in this group of teachers in the UK. We have identified risk factors that could be exploited to identify groups of teachers who would benefit from early intervention.

Computerised objective measurement of strain in voiced speech.

Voice quality assessment is required by healthcare professionals in patients suffering from voice problems. Speech and language therapists (SLTs) use a well-known subjective assessment approach which is called GRBAS, to quantify voice problems. GRBAS is an acronym for a five dimensional scale of measurements of voice properties which were originally recommended by the Japanese Society of Logopeadics and Phoniatrics and the European Research for clinical and research use. The properties are `Grade', `Roughness', `Breathiness', `Asthenia' and `Strain'. In requiring the services of trained SLTs, this subjective assessment make the GRBAS measurement expensive to administer. In this research, computerised objective measurement of `Strain' in voice using two regression prediction models is compared with measurements produced by SLTs according to the GRBAS scale. These regression models are K Nearest Neighbor Regression (KNNR) and Multiple Linear Regression (MLR). These new approaches for prediction of Strain are based on different subsets of features, different sets of data, and different prediction models in comparison with previous approaches in the literature. The best feature subset for predicting Strain objectively was obtained amongst different feature subsets. When compared with the mean of five SLT's scores, over 102 samples, the computerised measurement was found to have a Normalized Root Mean Square Error (NRMSE) averaged over 20 trials, lower than that of each individual SLT. We have achieved a NRMSE of 14.6% and 15.1% for the MLR and KNNR respectively when the best feature subsets were used for predicting Strain objectively.

An algorithm for early diagnosis of cervicofacial necrotising fasciitis.

Cervicofacial necrotising fasciitis (CNF) is a potentially fatal infection which can occasionally present in the head and neck. An early diagnosis and aggressive treatment is imperative for minimising the associated mortality and morbidity. The early clinical features are usually non-specific which makes it difficult to differentiate it from other less serious infections. Necrosis of the skin is a late feature. Although it is more common in the immunocompromised, it can also affect normal individuals. We discuss our experience of five patients with CNF, review of literature and algorithm for early diagnosis of CNF. With experience, we were able to diagnose the subsequent cases early and minimise the mortality and morbidity. In conclusion, the incidence of CNF has increased in the last decade partly due to an increased clinical awareness. Early intervention is essential to minimise the mortality and morbidity. It should be managed by a team of at least otolaryngologists, intensivist, microbiologist and plastic surgeons; cardiothoracic surgeons may be required. Treatment involves early aggressive surgical debridement/fasciotomy, intravenous antibiotics and general metabolic support in the intensive care unit.