"More support, less distress?": Examining the role of social norms in alleviating practitioners' psychological distress in the context of assisted dying services.

This study explores how providing assisted dying services affects the psychological distress of practitioners. It investigates the influence of professional norms that endorse such services within their field. Study 1 included veterinarians (N = 137, 75.2% female, Mage = 43.1 years, SDage = 12.7 years), and Study 2 health practitioner students (N = 386, 71.0% female, Mage = 21.0 years, SDage = 14.4 years). In both studies, participants indicated their degree of psychological distress following exposure to scenarios depicting assisted dying services that were relevant to their respective situations. In Study 1, we found that higher willingness to perform animal euthanasia was associated with lower distress, as were supportive norms. In Study 2, a negative association between a greater willingness to perform euthanasia and lower psychological distress occurred only when the provision of such services was supported by professional norms. In conclusion, psychological distress is buffered by supportive professional norms.

Gastrostomies in children requiring long-term ventilation.

PURPOSE: Children requiring long-term ventilation (LTV) via tracheostomy often require enteral tube feeding. We sought to investigate what proportion of these children underwent gastrostomy insertion to inform decision making at time of tracheostomy formation. METHODS: A retrospective review of all children commenced on LTV via a tracheostomy at Royal Manchester Children's Hospital over a 9-year period (2012-2020). Data are presented as median [IQR]. RESULTS: Forty-one LTV patients had tracheostomy insertion with an average age of 167 days [101-604]. Reasons for tracheostomy insertion were upper airway obstruction (18), central neurological condition (7), neuromuscular condition (12) and lower respiratory tract disease (4). Twenty-two patients were born preterm and chronic lung disease of prematurity was a contributory factor in their requirement for LTV. Eight children had gastrostomies inserted prior to tracheostomy formation. A further 22 children had a gastrostomy inserted at an average of 139 days [99-227] following tracheostomy. Four children remained on nasogastric feed and the rest were fed orally. Seventy-three percentage of LTV children with tracheostomy were gastrostomy fed. Neither indication for LTV nor prematurity predicted whether a child was gastrostomy fed. CONCLUSION: The large majority of children requiring LTV are tube fed and gastrostomy insertion should be considered at time of formation of tracheostomy.

Physiology of Acetic Acid Bacteria and Their Role in Vinegar and Fermented Beverages.

Acetic acid bacteria (AAB) have, for centuries, been important microorganisms in the production of fermented foods and beverages such as vinegar, kombucha, (water) kefir, and lambic beer. Their unique form of metabolism, known as "oxidative" fermentation, mediates the transformation of a variety of substrates into products, which are of importance in the food and beverage industry and beyond; the most well-known of which is the oxidation of ethanol into acetic acid. Here, a comprehensive review of the physiology of AAB is presented, with particular emphasis on their importance in the production of vinegar and fermented beverages. In addition, particular reference is addressed toward Gluconobacter oxydans due to its biotechnological applications, such as its role in vitamin C production. The production of vinegar and fermented beverages in which AAB play an important role is discussed, followed by an examination of the literature relating to the health benefits associated with consumption of these products. AAB hold great promise for future exploitation, both due to increased consumer demand for traditional fermented beverages such as kombucha, and for the development of new types of products. Further studies on the health benefits related to the consumption of these fermented products and guidelines on assessing the safety of AAB for use as microbial food cultures (starter cultures) are, however, necessary in order to take full advantage of this important group of microorganisms.

Transitioning children using home invasive mechanical ventilation from hospital to home: Discharge criteria, disparities, and ethical considerations.

Children using home invasive mechanical ventilation (HIMV), a valuable therapeutic option for chronic respiratory failure, constitute a growing population. Transitioning children using HIMV from hospital to home care is a complex process that requires a multidisciplinary approach involving healthcare professionals, caregivers, and community resources. Medical stability, caregiver competence, and home environment suitability are essential factors in determining discharge readiness. Caregiver education and training play a pivotal role in ensuring safe and effective home care. Simulation training and staged education progression are effective strategies for equipping caregivers with necessary skills. Resource limitations, inadequate home nursing support, and disparities in available community resources are common obstacles to successful HIMV discharge. International perspectives shed light on diverse healthcare systems and challenges faced by caregivers worldwide. While standardizing guidelines for HIMV discharge may be complex, collaboration among healthcare providers and the development of evidence-based regional guidelines can improve outcomes for children using HIMV and their caregivers. This review seeks to synthesize literature, provide expert guidance based on experience, and highlight components to safely discharge children using HIMV. It further assesses disparities and divergences within regional and international healthcare systems while addressing relevant ethical considerations.

Development of an In Vivo Extended-Spectrum Cephalosporin-Resistant Escherichia coli Model in Post-Weaned Pigs and Its Use in Assessment of Dietary Interventions.

Current interventions targeting antimicrobial resistance (AMR), a major impact on commercial pork production, focus on reducing the emergence of AMR by minimising antimicrobial usage through antimicrobial stewardship and a range of alternative control methods. Although these strategies require continued advancement, strategies that directly aim to reduce or eliminate existing antimicrobial resistant bacteria, specifically bacteria resistant to critically important antimicrobials (CIAs), need to be investigated and established. This study established an in vivo model for examining the effects of postbiotics, in the form of Lactobacillus acidophilus fermentation products (LFP) and Saccharomyces cerevisiae fermentation products (SFP), on the shedding of extended-spectrum cephalosporin (ESC)-resistant E. coli. The model was successful in demonstrating the presence of ESC-resistant E. coli as evidenced by its detection in 62 of 64 pigs. There was a strong trend (p = 0.065) for the SFP postbiotics to reduce the shedding of ESC-resistant E. coli, indicating positive impacts of this additive on reducing the carriage of bacteria resistant to CIAs. Overall, this in vivo model enables future evaluation of strategies targeting ESC-resistant E. coli while increasing our knowledge on the carriage of ESC-resistant E. coli in pigs.

Guanidinoacetic acid as a partial replacement to arginine with or without betaine in broilers offered moderately low crude protein diets.

Guanidinoacetic acid (GAA) is the direct precursor of creatine and can spare arginine (Arg) for creatine synthesis in low crude protein (CP) broiler diets. This study aimed to determine the extent GAA could spare Arg in broilers offered low CP diets and if supplemental betaine provides additional benefits. Seven hundred twenty-day-old Ross 308 male broilers were assigned into 9 dietary treatments with 8 replicates of 10 birds each. The treatments were; normal CP diet, a low CP (-15 g/kg) diet deficient in Arg, a low CP diet sufficient in Arg, and low CP diets with GAA, where 0.1% added L-Arg was spared by GAA at 50, 100, and 150% with and without 0.1% betaine. The treatments were offered during grower (d 10-24) and finisher (d 25-42) phases. The birds offered a low CP Arg deficient diet had 7.8% lower weight gain, 10 points higher FCR, 8.5% lower breast meat yield, 27.2% lower breast meat creatine concentration and 30.4% more abdominal fat pad compared to those offered a normal CP diet. When Arg was added back to the Arg deficient diet, growth performance, breast meat yield and creatine concentration loss were restored. When GAA spared Arg at 150%, feed intake, weight gain, FCR, breast and abdominal fat yields, breast meat moisture, drip loss, and breast meat creatine concentration became comparable to Arg sufficient low CP and normal CP treatments. When GAA spared Arg at 100 and 50%, FCR was 3 and 5 points lower than the normal CP treatment. Breast meat creatine concentration was positively correlated to feed efficiency (r = 0.70, P < 0.001) and breast meat moisture (r = 0.33, P < 0.01), and negatively correlated to relative weight of abdominal fat (r = -0.37, P < 0.01) and breast meat pH (r = -0.49, P < 0.001). There were no benefits of adding betaine with GAA on the parameters measured but the results with GAA were consistent in the presence or absence of betaine.

Neuro-developmental outcome at 18 months in premature infants with diffuse excessive high signal intensity on MR imaging of the brain.

BACKGROUND: Diffuse excessive high signal intensity (DEHSI) may represent damage to the white matter in preterm infants, but may be best studied alongside quantitative markers. Limited published data exists on its neuro-developmental implications. OBJECTIVE: The purpose of this study was to assess whether preterm children with DEHSI at term-corrected age have abnormal neuro-developmental outcome. MATERIALS AND METHODS: This was a prospective observational study of 67 preterm infants with MRI of the brain around term-equivalent age, including diffusion-weighted imaging (DWI). Images were reported as being normal, overtly abnormal or to show DEHSI. A single observer placed six regions of interest in the periventricular white matter and calculated the apparent diffusion coefficients (ADC). DEHSI was defined as (1) high signal on T2-weighted images alone, (2) high signal with raised ADC values or (3) raised ADC values independent of visual appearances. The neuro-development was assessed around 18 months' corrected age using the Bayley Scales of Infant and Toddler Development (3rd Edition). Standard t tests compared outcome scores between imaging groups. RESULTS: No statistically significant difference in neuro-developmental outcome scores was seen between participants with normal MRI and DEHSI, regardless of which definition was used. CONCLUSION: Preterm children with DEHSI have similar neuro-developmental outcome to those with normal brain MRI, even if the definition includes objective markers alongside visual appearances.

Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.

Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of the pathologic basis of disease. Improvements in patient identification and treatment are impacting survival. This is true in endocrinology and inborn errors of metabolism, where disease-modifying therapies are developing. Inherent to this evolution is the increasing awareness of the respiratory manifestations of these rare diseases. This review updates clinicians, stratifying diseases spirometerically; pulmonary hypertension and diseases with a predisposition to recurrent pulmonary infection are discussed. This division is artificial; many diseases have multiple pathologic effects on respiration. This review does not cover the impact of obesity.

An update on water kefir: Microbiology, composition and production.

Water kefir is a sparkling, slightly acidic fermented beverage produced by fermenting a solution of sucrose, to which dried fruits have been added, with water kefir grains. These gelatinous grains are a symbiotic culture of bacteria and yeast embedded in a polysaccharide matrix. Lactic acid bacteria, yeast and acetic acid bacteria are the primary microbial members of the sugary kefir grain. Amongst other contributions, species of lactic acid bacteria produce the exopolysaccharide matrix from which the kefir grain is formed, while yeast assists the bacteria by a nitrogen source that can be assimilated. Exactly which species predominate within the grain microbiota, however, appears to be dependent on the geographical origin of the grains and the fermentation substrate and conditions. These factors ultimately affect the characteristics of the beverage produced in terms of aroma, flavour, and acidity, for example, but can also be controlled and exploited in the production of a beverage of desired characteristics. The production of water kefir has traditionally occurred on a small scale and the use of defined starter cultures is not commonly practiced. However, as water kefir increases in popularity as a beverage - in part because of consumer lifestyle trends and in part due to water kefir being viewed as a health drink with its purported health benefits - the need for a thorough understanding of the biology and dynamics of water kefir, and for defined and controlled production processes, will ultimately increase. The aim of this review is to provide an update into the current knowledge of water kefir.

Impact of airway Exophiala spp. on children with cystic fibrosis.

INTRODUCTION: Isolation of Exophiala species from sputum samples has become increasingly reported in Cystic Fibrosis (CF). However, the clinical significance of Exophiala spp. with regards to the paediatric CF population is unknown. METHODS: A case control study was undertaken to compare CF children with and without chronic Exophiala spp. in their sputum samples. Demographic and clinical data were collected retrospectively for each case from the date of Exophiala isolation and for 12 months preceding isolation. Each case was compared to three age and year-matched controls. To determine the effect of Exophiala on clinical course, patients were then followed for 12 months post isolation. RESULTS: In total, 27 of 244 eligible paediatric CF patients (11%) isolated Exophiala spp. on more than one occasion. There were no significant differences in the key clinical parameters: spirometry, mean number of intravenous (IV) antibiotic days and body mass index (BMI), between cases and controls (p = 0.91, p = 0.56 and p = 0.63 respectively). A higher proportion of cases isolated Candida spp. (67% vs 21%, p < 0.0001) and Aspergillus fumigatus (37% vs 26%, p = 0.37). There was no clinically significant difference in spirometry, mean number of IV antibiotic days and BMI in cases pre and post Exophiala spp. isolation. Posaconazole was the only drug used that successfully eradicated Exophiala. CONCLUSION: Despite the frequent isolation of Exophiala spp. in this cohort, in most patients it is not associated with significant clinical deterioration. It does however seem to be associated with isolation of other fungi.

Precision feeding and precision nutrition: a paradigm shift in broiler feed formulation?

Broiler chickens grow rapidly, and their nutrient requirements change daily. However, broilers are fed three to five diet phases, meaning nutrients are under or oversupplied throughout production. Increasing diet phases improves production efficiency as there is less time in the production cycle that nutrients are in under or over-supply. Nevertheless, the process of administering four or more diets is costly and often impractical. New technologies are now available to blend feed to match the daily nutrient requirements of broilers. Thus, the aim of this review is to evaluate previous studies measuring the impact of increasing feed phases on nutrient utilisation and growth performance, and review recent studies taking this concept to the extreme; precision nutrition - feeding a new diet for each day of the production cycle. This review will also discuss how modern precision feeding technologies have been utilised and the potential that new technologies may bring to the poultry industry. The development of a precision nutrition regime which targets daily requirements by blending dietary components on farm is anticipated to improve the efficiency of production, reduce production cost and therefore improve sustainability of the industry. There is also potential for precision feeding technology along with precision nutrition strategies to deliver a plethora of other management and economic benefits. These include increased fluidity to cope with sudden environmental or market changes, and the ability to alter diets on a farm by farm level in a large, integrated operation. Thus, the future possibilities and practical implications for such technologies to generate a paradigm shift in feed formulation within the poultry industry to meet the rising demand for animal protein is also discussed.

The Response of Layer Hen Productivity and Egg Quality to an Additional Limestone Source When Offered Diets Differing in Calcium Concentrations and the Inclusion of Phytase.

Laying hens require substantial quantities of calcium (Ca) to maintain egg production. However, maintaining recommended dietary Ca through inclusion of limestone may impede nutrient digestibility, including that of other minerals. It was hypothesized that providing a separate source of dietary Ca in the form of limestone grit would preserve Ca intake of hens offered diets containing suboptimal Ca concentrations. Furthermore, the impact of dietary phytase at a "superdosing" inclusion rate on the voluntary consumption of limestone grit was evaluated. One hundred and forty-four laying hens (19 weeks of age) were assigned to one of six dietary treatments in a 3 × 2 factorial arrangement comprising three dietary Ca concentrations (40, 30, and 20 g/kg) and ±dietary phytase (3500 FYT/kg diet) on an ad libitum basis for six weeks. Limestone grit (3.4 ± 1.0 mm) was provided to all hens ad libitum. Hens offered diets containing phytase consumed significantly less limestone grit p = 0.024). Egg weight, rate of lay, and egg mass were unaffected by dietary treatment (p > 0.05). Egg shell weight % (p < 0.001), shell thickness (p < 0.001), and shell breaking strength (p < 0.01) decreased in line with dietary Ca levels. In summary, dietary superdosing with phytase reduced the consumption of a separate limestone source in individually housed, early lay ISA Brown hens. Egg shell quality variables but not egg production worsened in line with lower dietary Ca levels.

Black soldier fly larvae in broiler diets improve broiler performance and modulate the immune system.

Non-conventional feed ingredients are receiving more interest in their ability to increase farming efficiency, sustainability and animal performance. The objective of this study was to determine the optimal rate of inclusion level of the full-fat black soldier fly larvae (BSFL) in broiler diets and to evaluate their impact on performance, nutrient digestibility, and the immune system (blood cells and intraepithelial lymphocytes). A total of 400 male day-old Ross 308 broilers were randomly assigned to 5 treatment groups with 8 replicates each. Five inclusion levels of full-fat BSFL were investigated across starter (0, 2.5%, 5%, 7.5% and 10%), grower and finisher diets (0, 5%, 10%, 15% and 20%). All diets were formulated based on digestible amino acid values according to the Aviagen (2016) recommendations. A polynomial regression at different degrees was performed to analyse broiler performance parameters (body weight, body weight gain, feed intake, and feed conversion ratio), nutrient digestibility, and blood cell count. Intraepithelial lymphocyte population data was analysed performing univariate linear regression. During the entire experimental period (from 2 to 42 d), BSFL inclusion levels decreased the feed conversion ratio by 10% in broilers that received 20% BSFL in their diets (P < 0.05). Lymphocytes and white blood cell count decreased linearly by 47.7% and 35.9%, respectively, with up to 20% BSFL inclusion (P < 0.001). A 4-fold decrease in CD3+ T lymphocytes and a 9.7-fold decrease of CD3+CD8+ intestinal cytotoxic T lymphocytes occurred in broilers fed 20% BSFL compared to the control group. These findings suggest that the inclusion of BSFL can improve broiler performance and potentially reduce immune response energy expenditure in birds fed 20% BSFL for 42 d.

A randomized comparative trial of generalized vs targeted physiotherapy in the management of childhood hypermobility.

OBJECTIVE: Joint hypermobility, common in childhood, can be associated with severe pain and significant morbidity. Physiotherapy, the mainstay of treatment, lacks a robust evidence base. This study is aimed at determining the best physiotherapy intervention in managing childhood hypermobility. METHODS: A prospective randomized comparative trial (RCT) compared a 6-week generalized programme, improving muscular strength and fitness, with a targeted programme aimed at correcting motion control of symptomatic joints. Patients were assessed on symptom scores (pain/global-impact), function, muscle strength and fitness. RESULTS: Fifty-seven children, aged 7-16 years with symptomatic hypermobility, were randomly assign to receive a targeted (T; n = 30) or generalized (G; n = 27) programme. Statistically significant improvements were demonstrated in both the children's and parental pain scores across both the randomized groups between baseline and follow-up assessments (P < 0.05). However, the difference in improvement between the groups was not statistically significant. Child's assessment of change in pain score: mean difference (95% CI) T - G, 3.97 (-15.59, 20.85) at the end of treatment and 9.41 at 3-month follow-up (-17.42, 36.24). At the end of treatment, parental assessment of change in pain score, T - G was: -0.27 (-15.05, 14.50) and at 3-month follow-up it was: -9.48 (-26.40, 7.43). Change in parental global assessment was statistically significant, in favour of targeted physiotherapy at final assessment: -21.29 (-40.03, -2.55). CONCLUSION: This is the first physiotherapy RCT for treating hypermobility. It demonstrated significant and sustained reduction in pain when both groups were combined, but did not detect any difference between the groups. This study provides normative and methodological data for future studies of hypermobility. TRIAL REGISTRATION: Current Controlled Trials, www.controlled-trials.com, ISRCTN58523390.

Excreta biomarkers in response to different gut barrier dysfunction models and probiotic supplementation in broiler chickens.

Increased intestinal permeability (IP) and inflammation are both linked with functionality of the intestinal barrier and in particular enterocytes. Currently, almost all assessment methods of the intestinal barrier function are invasive. The present study aimed to quantify selected proteins as novel biomarkers in excreta of broiler chickens to facilitate non-invasive assessment of gut barrier function using enzyme-linked immunosorbent assays (ELISA). It was further hypothesised that probiotics as feed additives may counteract gut barrier dysfunction. A 3 × 2 factorial arrangement of treatments was used with the main factors being gut barrier dysfunction models (control, rye-based diet, and dexamethasone-DEX) with and without probiotic supplementation (a three-strain Bacillus) using 72 male Ross 308 day-old chickens. Each of the 6 experimental treatments was replicated 12 times. On d 21 of age, fluorescein isothiocyanate dextran (FITC-d) uptake into serum was examined to test IP. Fresh excreta samples were collected on d 20. The biomarkers included alpha-1 antitrypsin (A1AT), intestinal fatty acid binding protein (I-FABP), lipocalin-2 (LCN2), fibronectin (FN), intestinal alkaline phosphatase (IAP), ovotransferrin (OVT) and superoxide dismutase [Cu-Zn] (SOD1). Only DEX increased (P<0.001) FITC-d passage to the blood on d 21 of age, indicating a greater IP. The excreta concentrations of A1AT, I-FABP and SOD1 were unaltered by the experimental treatments. DEX increased (P<0.05) FN concentration in excreta compared with control birds. Conversely, inclusion of rye in the diet reduced (P<0.05) FN but increased (P<0.001) OVT in excreta. Independently, DEX decreased IAP (P<0.05) in excreta compared with control and rye-fed birds. The excreta concentration of LCN2 tended (P = 0.086) to increase in birds injected by DEX. There was no demonstrable effect of probiotic addition on any of the studied parameters. Among the tested biomarkers, FN, IAP, and LCN2 revealed promise as biomarkers of intestinal barrier function quantified by ELISA kits.

Complete Acid-Based Hydrolysis Assay for Carbohydrate Quantification in Seaweed: A Species-Specific Optimized Approach.

Accurate quantification of the carbohydrate content of biomass is crucial for many bio-refining processes. The most commonly followed protocol is typically a modification of the NREL-based assay (specifically designed for carbohydrate analysis from lignocellulosic biomass). However, this NREL protocol was revealed to be excessively thermochemically harsh for seaweed biomass. This can result in erroneously low total sugar quantification as the reaction severity can degrade a proportion of the liberated sugars to decomposition products such as furans. Here we describe an optimization of the total acid hydrolysis protocol for accurate quantification of the carbohydrate content of seaweeds. Different species of seaweed can be accurately evaluated for their carbohydrate contents by following this optimized method.

A Dietary Sugarcane-Derived Polyphenol Mix Reduces the Negative Effects of Cyclic Heat Exposure on Growth Performance, Blood Gas Status, and Meat Quality in Broiler Chickens.

Heat stress (HS) compromises growth performance and meat quality of broiler chickens by interrupting lipid and protein metabolism, resulting in increased oxidative damages. The experiment attempted to investigate whether dietary polyphenols (Polygain (POL)) could ameliorate the aforementioned adverse effects of HS on performance and meat quality. One hundred and twenty one day-old-male chicks were allocated to two temperature conditions, thermoneutral (TN) or HS, and fed with either a control diet (CON) or the CON plus four different doses of POL (2, 4, 6 and 10 g/kg). Heat stress caused respiratory alkalosis as evidenced by increased rectal temperature (p < 0.001) and respiration rate (p < 0.001) due to increased blood pH (p < 0.001). Heat stress decreased final body weight (p = 0.061) and breast muscle water content (p = 0.013) while POL improved both (p = 0.002 and p = 0.003, respectively). Heat stress amplified muscle damages, indicated by increased thiobarbituric acid reactive substances (p < 0.001) and reduced myofibril fragmentation index (p = 0.006) whereas POL improved both (p = 0.037 and p = 0.092, respectively). Heat stress impaired meat tenderness (p < 0.001) while POL improved it (p = 0.003). In conclusion, HS impaired growth performance and meat quality whereas POL ameliorated these responses in a dose-dependent manner, and effects of POL were evident under both temperature conditions.

Characterization of tracheobronchomalacia in infants with hypophosphatasia.

BACKGROUND: Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants with HPP, severe tracheobronchomalacia (TBM) contributes to respiratory difficulties. The objective of this study is to characterize the clinical features, investigations and management in these patients. METHODS: We report a case series of five infants with perinatal HPP, with confirmed TBM, who were treated with asfotase alfa and observed for 3-7 years. Additionally, we reviewed respiratory function data in a subgroup of patients with perinatal and infantile HPP included in the clinical trials of asfotase alfa, who required high-pressure respiratory support (positive end-expiratory pressure [PEEP] ≥6 cm H2O and/or peak inspiratory pressure ≥18 cm H2O) during the studies. RESULTS: The case series showed that TBM contributed significantly to respiratory morbidity, and prolonged respiratory support with high PEEP was required. However, TBM improved over time, allowing weaning of all patients from ventilator use. The review of clinical trial data included 20 patients and found a high degree of heterogeneity in PEEP requirements across the cohort; median PEEP was 8 cm H2O at any time and some patients presented with high PEEP (≥8 cm H2O) over periods of more than 6 months. CONCLUSION: In infants with HPP presenting with persistent respiratory complications, it is important to screen for TBM and initiate appropriate respiratory support and treatment with asfotase alfa at an early stage. TRIAL REGISTRATION: ClinicalTrials.gov numbers: NCT00744042 , registered 27 August 2008; NCT01205152 , registered 17 September 2010; NCT01176266 , registered 29 July 2010.

Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA.

Mucopolysaccharidoses type IVA (Morquio disease) is a rare, autosomal recessive lysosomal storage disease that causes both obstructive and restrictive airway pathology, with respiratory failure being the primary cause of death. This article provides original data on the longitudinal characterization of pulmonary function changes in children with Mucopolysaccharidoses (MPS) IVA by presenting the data and nuanced trends of changes from sequential spirometry and oximetry. The sample size included 16 subjects, 13 had undergone enzyme replacement therapy (ERT), three had not undergone ERT treatment. A total of 180 individual plots are presented for spirometry variables (FEV1, FEV1 [%Pred] FVC, FVC [%Pred] and FEV1/FVC), 6MWT and oximetry variables (median %Spo2, ODI 3%, mean nadir 3%, ODI 4%, mean nadir 4% and min dip SpO2 [%]); over a nine-year period at a single quaternary paediatric metabolic centre. This data has been made public and has utility to clinicians and researchers due to the following: [1,2] by providing the first comprehensive report of detailed changes in pulmonary function in children with MPS IVA, with and without ERT; [1-3] as well as changes in pulmonary function following the institution of non-invasive ventilation (NIV) and adenotonsillectomy. The data presented is related to the research article by Kenth et al. "The Characterization of Pulmonary Function in Patients with Mucopolysaccharidoses IVA: A Longitudinal Analysis".

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.

BACKGROUND: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life expectancy. No curative therapy is currently available, with management aimed at symptom palliation. METHODS: We present a retrospective, single-centre, case series of children referred to a tertiary paediatric metabolic service. The clinical presentation, demographics, genetics and natural history of the condition are investigated. RESULTS: Five patients with I-cell disease were referred over a 10-year period. All patients were born with dysmorphic features and had a family history of I-cell disease on further exploration. Phenotypic variation was seen within patients with the same genetic profile. Airway problems were common with 100% of the documented sleep oximetry studies suggesting sleep-disordered breathing. Of the two patients who had tracheal intubation anaesthetic difficulties we encountered, one required intraoperative reintubation, and one suffered a failed intubation with subsequent death. All five patients required oxygen therapy with the use of CPAP and BiPAP also seen. Feeding issues were almost universal with four of the five patients requiring nasogastric feeding. Four patients had died in the 10-year period with a mean life expectancy of 36 months. Cause of death for three of the four patients was respiratory failure. CONCLUSIONS: Airway problems, including sleep-disordered breathing, were ubiquitous in this cohort of children. Any intervention requiring a general anaesthetic needs careful multidisciplinary consideration due to significant associated risks and possibly death. Management as a result is generally non-surgical and symptomatic. This case series demonstrates universal involvement of the airway and respiratory systems, an important consideration when selecting meaningful outcomes for future effectiveness studies of novel therapies.