Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA)

Introduction: SMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoracoabdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is affected by salbutamol therapy, currently suggested as standard treatment, or by the natural history(NH) of SMA; 3)the severity of global motor impairment linearly correlates with VTAp. Materials and methods: VTAp was analysed on 32 SMA type I (SMA1, the most severe form), 51 type II (SMA2, the moderate), 8 type III (SMA3, the mildest) and 20 healthy (HC) using opto-electronic plethysmography. Spirometry, cough and motor function were measured in a subgroup of patients. Results: In SMA1, a normal ventilation is obtained in supine position by rapid and shallow breathing with paradoxical ribcage motion. In SMA2, ventilation is within a normal range in seated position due to an increased respiratory rate(p0.05) while tachypnea occurred in type I NH. A linear correlation(p<0.001) was found between motor function scales and VTAp. Conclusion: A negative or reduced %ΔVRC,P, indicative of ribcage muscle weakness, is a distinctive feature of SMA1 and SMA2 since infancy. Its quantitative assessment represents a non-invasive, non-volitional index that can be obtained in all children, even uncollaborative, and provides useful information on the action of ribcage muscles that are known to be affected by the disease. Low values of motor function scales indicate impairment of motor but also of respiratory function

Sniff test: does what we measure at the nose reflect what happens in the chest wall?

Nasal pressure measured during sniff (SNIP) is a technically simple voluntary test. Since the contraction of the diaphragm expands the abdomen, the volume variation during sniff manoeuvre should therefore be predominantly abdominal in order to be considered a specific index of diaphragm strength. We aimed to verify if and how SNIP varied according to thoraco-abdominal volume variations. We measured abdominal volume variations, using opto-electronic plethysmography, during quiet breathing (ABQB) and sniff manoeuvres (ABSN) in supine position on 30 patients (age: 42; FVC:47.5%; FEV1:30%) on the waiting list for lung transplant. SNIP was measured simultaneously with ABSN. 68 sniff were analysed and classified into 4 groups according to ABSN: 16 with thoracic paradox, 24 predominantly abdominal, 16 predominantly thoracic and 12 with abdominal paradox. By definition ABSN was different (p&lt;0.001) among the 4 groups, whereas ABQB (~75%; p=0.373) and SNIP (~53 cmH2O, p= 0.792) were similar (figure 1). SNIP did not change with the different thoraco-abdominal strategies. The diaphragm was not weak and leaded inspiration, therefore ABSN varied because the patients misperformed the manoeuvre. In order to not misunderstand the clinical significance of a sniff test, care should be paid also in thoraco-abdominal movement because SNIP, per se, cannot differentiate between thoracic or diaphragmatic manoeuvre with the risk to lose its specificity

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1

Background: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. Methods: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3–11 years in clinical stable condition with a coded way to communicate “yes” and “no”. Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. Results: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. Conclusions: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment

Rib Cage Deformities Alter Respiratory Muscle Action and Chest Wall Function in Patients with Severe Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. Cardiopulmonary insufficiency is the leading cause of death in these patients.Seven patients with severe OI type III, 15 with moderate OI type IV and 26 healthy subjects were studied. In addition to standard spirometry, rib cage geometry, breathing pattern and regional chest wall volume changes at rest in seated and supine position were assessed by opto-electronic plethysmography to investigate if structural modifications of the rib cage in OI have consequences on ventilatory pattern. One-way or two-way analysis of variance was performed to compare the results between the three groups and the two postures. compared to predicted values, on condition that updated reference equations are considered. In both positions, ventilation was lower in OI patients than control because of lower tidal volume (p<0.01). In contrast to OI type IV patients, whose chest wall geometry and function was normal, OI type III patients were characterized by reduced (p<0.01) angle at the sternum (pectus carinatum), paradoxical inspiratory inward motion of the pulmonary rib cage, significant thoraco-abdominal asynchronies and rib cage distortions in supine position (p<0.001).In conclusion, the restrictive respiratory pattern of Osteogenesis Imperfecta is closely related to the severity of the disease and to the sternal deformities. Pectus carinatum characterizes OI type III patients and alters respiratory muscles coordination, leading to chest wall and rib cage distortions and an inefficient ventilator pattern. OI type IV is characterized by lower alterations in the respiratory function. These findings suggest that functional assessment and treatment of OI should be differentiated in these two forms of the disease

Water adsorption isotherms and isosteric sorption heat of spray-dried and freeze-dried dehydrated passion fruit pulp with additives and skimmed milk

Moisture equilibrium data of passion fruit pulp powders with maltodextrin and gum arabic were obtained by two different drying methods (spray drying and freeze drying) and determined at 20, 30, 40 and 50º C. Skimmed milk was used to substitute part of these additives in the samples. One formulation using passion fruit pulp/maltodextrin/skimmed milk (PMS) was prepared, and another using passion fruit pulp/gum arabic/skimmed milk (PGS). The behavior of curves was type III, according to Brunauer's classification. GAB models were fitted to experimental equilibrium data. The parameters obtained from GAB models was affected by the presence of additives. The behavior of the sorption isotherms for different temperatures are similar, noting only a small effect of temperature. There were little differences between both drying methods and additives used in relation to equilibrium moisture content. The parameters obtained with the addition of the skimmed milk were considered satisfactory (Xm values ranged from 0,04084 to 0,06488 in dry basis), demonstrating that it is an effective and cheap alternative for regular additives. A progressive increase in the heat of sorption in relation to decreasing moisture content was observed and the heat of sorption values of different samples are all similar, comparing the relative equilibrium moisture content.Dados de umidade de equilíbrio da polpa de maracujá em pó com maltodextrina e goma arábica obtidas por dois diferentes processos de secagem (spray dryer e liofilizador) foram determinados a 20, 30, 40 e 50° C. Leite desnatado foi utilizado nas amostras em substituição a uma parte desses dois aditivos. Prepararou-se uma formulação, usando polpa de maracujá/maltodextrina/leite desnatado (PMS) e outra com polpa de maracujá/goma arábica/leite desnatado (PGS). Os comportamentos das isotermas obedeceram ao tipo III, de acordo com a classificação de Brunauer e utilizou-se o modelo de GAB para ajuste dos dados de equilíbrio. Os parâmetros obtidos pelo modelo de GAB foram afetados pela presença dos aditivos. O comportamento das isotermas de sorção para as diferentes temperaturas foram similares, notando-se uma pequena diferença em relação ao efeito da temperatura. Observaram-se também pequenas diferenças entre os dois métodos de secagem utilizados e os aditivos usados em relação ao teor de umidade de equilíbrio. Os parâmetros obtidos pela adição do leite desnatado foram considerados satisfatórios (Xm variando de 0,04084 a 0,06488 em base seca) mostrando que o leite desnatado pode ser uma alternativa boa e com menor custo na substituição dos aditivos comumente utilizados nesse tipo de processo. Observou-se uma aumento do calor isostérico de sorção em relação a diminuição do teor de umidade e os valores das diferentes amostras utilizadas foram similares, comparando-se o teor de umidade de equilíbrio

Hygroscopic behavior of lyophilized acerola pulp powder

ABSTRACT Powder products are characterized by their practicality and long life. However, fruit powders have high hygroscopicity and tend to agglomerate due to its hydrophilic nature. The isotherms of equilibrium moisture content apply to the study of dehydrated food preservation potential. Acerola is a nutritionally rich fruit, with great economic and industrial potential. The objective of this study was to analyse acerola powder adsorption isotherms obtained by lyophilization and characterize the powder obtained from lyophilized acerola pulp. Analysis of hygroscopicity, solubility and degree of caking were performed. Isotherms were represented by the mathematical models of GAB, BET, Henderson and Oswin, at temperatures of 25, 35 and 45 °C. According to the results, the obtained powder showed hygroscopicity of 5.96 g of absorbed water 100g-1 of solids, solubility of 95.08% and caking of 14.12%. The BET model showed the best fit to the adsorption isotherms of the acerola pulp powder obtained by lyophilization. The obtained isotherm was of type III, with a "J" shape. There was an inversion of the effect of temperature on the isotherms of acerola powders