Dysfunctional breathing is characterised by an abnormal breathing pattern leading to respiratory symptoms. The 25-item Self Evaluation of Breathing Questionnaire (SEBQ) has been developed to measure breathing-related symptoms and their severity but lacks thorough evaluation. To determine reproducibility, internal consistency and predictors of SEBQ score, 180 participants completed an online SEBQ with additional demographic and lifestyle questions. Two weeks later, 155 of those repeated SEBQ. Test-retest correlation of the SEBQ was high [intraclass correlation coefficient (3, 1) = 0.89; 95 % CI 0.85-0.92]. There was no difference in SEBQ score between test and retest (15.1 (11.6) [mean (SD)] versus 14.7 (12.4); P = 0.4) and the score showed a typical error (standard error of measurement) of 4.0. Internal consistency was high (Cronbach's α = 0.93), and a single factor structure for items was shown. Smoking status, reported respiratory disease, recent respiratory illness and female gender were positively-associated predictors of SEBQ score, and together explained 25.6 % of score variance (P ≤ 0.001). The SEBQ has high test-retest reproducibility and its score may be predicted by current smoking, chronic respiratory disease, recent respiratory illness and female gender, thus may be a useful clinical screening tool for dysfunctional breathing.
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg/kg/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically—one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder.
Background and aims:The quality of early mother-infant interaction predicts infant developmental outcomes and is an important target for intervention. This study aims to further establish the reliability and validity of the Observational Rating Scale of Parental Interactions (ORSPI) as a measure of mother-infant interaction.
Results: During the study period mean BW decreased from 3658 to 3574 gram (p< 001). Mean ppBMI increased from 24.25 to 24.78, GWG decreased from 15.15 to 13.93 kg, smokers decreased from 22.7 to 11.5%, GA decreased from 39.79 to 39.50 weeks, (p< 001 for all). Our model explained 33% of the variability in BW. BW increased 18.9 (95%CI; 17.4,20.4) g per kg GWG, 21.7 (19.9,23.5) g per unit ppBMI, 13.1 (11.7,14.4) g per 1 cm mother´s height, 141.8 (135.0-148.6) g per week GA, and 105.7 (89.3-122.2) g for male sex, and decreased 187.3 (164.6, 210.1) g for smoking and 182.7 (164.5,200.9) g for being primipara. Conclusion: Pregnancy weight gain and prepregnancy BMI have significant, but limited, impact on birth weight.
Glycogen storage type V (GSD V—McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, Neuromuscul Disord, 31, 1296–1310). This paper presents eight patients with a median onset age of 5.5 years and diagnosis of 9.5 years. Six patients had episodes of rhabdomyolysis with creatine kinase elevations >50 000 IU/L. Most episodes occurred in relation to eccentric non‐predicted activities rather than regular exercise. One of the patients performed a non‐ischaemic forearm test. One patient was diagnosed subsequent to a skeletal muscle biopsy, and all had confirmatory molecular genetic diagnosis. Three were homozygous for the common PYGM:c.148C > T (p.Arg50*) variant. All but one patient had truncating variants. All patients were managed with structured exercise testing to help them identify ‘second‐wind’, and plan an exercise regimen. In addition all also had an exercise test with 25 g maltodextrin which had statistically significant effect on ameliorating ratings of perceived exertion. GSD V is under‐recognised in paediatric practice. Genetic testing can readily diagnose the condition. Careful identification of second‐wind symptomatology during exercise with the assistance of a multi‐disciplinary team, allows children to manage activities and tolerate exercise. Maltodextrin can be used for structured exercise, but excessive utilisation may lead to weight gain. Early intervention and education may improve outcomes into adult life.
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