• MeSH
• Child MeSH
• Critical Care MeSH
• Emergency Treatment MeSH
• Check Tag
• Child MeSH

• Conspectus
• Pediatrie
• NML Fields
• pediatrie
• urgentní lékařství
• NML Publication type
• kolektivní monografie

BACKGROUND: The long-term respiratory consequences for children with bronchopulmonary dysplasia (BPD) are well known. However, there is little emphasis on monitoring preterm infants without BPD. Few studies have explored the lung function status of infants with the symptoms of chronic lung disease of prematurity (CLD). OBJECTIVE: To evaluate functional lung deficits in preterm infants with CLD, and to assess the perinatal determinants of diminished lung function. METHODS: In our cross-sectional study, 132 preterm infants with symptomatic CLD underwent infant pulmonary function testing (iPFT) at a median post-term age of 0.9 years. The iPFT included bodypletysmography, compliance measurement, tidal breath analysis, and rapid thoracoabdominal compression. The relationships between the respective z scores of the iPFT parameters and perinatal characteristics, postnatal treatment, and BPD status were investigated. RESULTS: Seventy-three patients (55.3%) were born before the 28th week of gestation, and 92 (69.7%) met the BPD criteria. Functional deficits were detected in 85.8%. The obstructive ventilatory pattern was more prevalent than restrictive (36.3 vs. 12.4%, p < 0.001). Infants with restriction had lower birth weight (BW) and required a longer duration of oxygenotherapy. In a univariate model, the lung function correlated with the duration of invasive mechanical ventilation, gestational week, and BW. In a general linear model, BPD status was not an additional determinant of the iPFT results. CONCLUSION: IPFT may reveal significant functional deficits in preterm infants with CLD even without BPD. The current symptoms and perinatal factors may be more important determinants of functional deficits than the BPD status itself.

• MeSH
• Bronchopulmonary Dysplasia * complications   MeSH
• Child MeSH
• Gestational Age MeSH
• Infant MeSH
• Humans MeSH
• Infant, Premature MeSH
• Infant, Newborn MeSH
• Lung MeSH
• Birth Weight MeSH
• Cross-Sectional Studies MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

OBJECTIVES: To describe the short- and medium-term repeatability of lung clearance index at 2.5% (LCI2.5 ) in infants and calculate the number of patients needed to enroll in a study (N) using LCI2.5 as a primary outcome. METHODS: An 8-month follow-up observational study was employed for assessing short-term [coefficient of repeatability (CR) and intraclass correlation (ICC)] and medium-term repeatability (Bland-Altman method) of LCI2.5 in infants with cystic fibrosis (CF) or recurrent wheeze (RW) measured by the nitrogen multiple-breath washout test (N2 -MBW). Using these variability data, the N to reach 90% test power at the level of statistical significance (0.05) was calculated. RESULTS: Forty infants with CF and 21 with RW were enrolled. Initial N2 -MBW testing was successful in 33 and 17 patients, respectively. Follow-up data were available for 23 and 11 infants, respectively. Short-term repeatability of LCI2.5 was high (CR = 1.10 and 1.04 in CF and RW patients, respectively; ICC = 0.88 and 0.83 in CF and RW patients, respectively). The between-subject standard deviation was <13% of the actual LCI2.5 value. In clinically stable patients, LCI2.5 did not significantly change during the 8-month follow-up. Mean LCI2.5 change was -0.08 (1% of baseline) in CF and -0.05 (0.6%) in RW, with 95% limits of agreement being (-1.70; 1.53) in CF and (-1.51; 1.40) in RW patients. N = 23 infants if both intragroup differences of LCI2.5 and minimal difference to be detected would be 2.0. CONCLUSION: N2 -MBW may be a reproducible tool with reasonable test power to detect differences in infant studies.

• MeSH
• Cystic Fibrosis * diagnosis   MeSH
• Breath Tests methods   MeSH
• Nitrogen MeSH
• Infant MeSH
• Humans MeSH
• Follow-Up Studies MeSH
• Lung MeSH
• Respiratory Function Tests methods   MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH

V této kazuistice jsme se zaměřili na rozvoj chronického plicního onemocnění následující narušení vývoje dýchacích cest v raném dětství. Dýchací cesty procházejí dramatickým vývojem nejen v prenatálním období, ale rozvoj intenzivně pokračuje i postnatálně, zejména během prvních dvou až čtyř let. Pro celoživotní respirační zdraví tak nejsou zásadní pouze intrauterinní podmínky a genetické vlivy, ale i příznivé podmínky v prvních letech po narození.

In this case report, we focus on the development of chronic lung disease as a long-term con sequence of disruption of respiratory development in early childhood. The airways undergo dramatic development not only in the prenatal period, but intensively continue postnatally, especially during the first two to four years. Thus, for lifelong respiratory health, intrauterine conditions and genetic influences are essential, but favourable conditions in the first years after birth are important as well.

• MeSH
• Bronchoscopy MeSH
• Chronic Disease MeSH
• Child MeSH
• Respiratory System pathology   MeSH
• Humans MeSH
• Adolescent MeSH
• Infant, Premature MeSH
• Lung Diseases, Obstructive * MeSH
• Respiratory Function Tests MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Breath Tests * MeSH
• Functional Residual Capacity MeSH
• Infant MeSH
• Humans MeSH
• Lung * MeSH
• Respiratory Function Tests MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Publication type
• Editorial MeSH

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4·71, 95% CI 1·26-17·58, p=0·021). The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III. Tri-iodothyronine concentrations were above the age-specific upper limit in 96 (95%) of 101 patients and free thyroxine concentrations were below the age-specific lower limit in 94 (89%) of 106 patients. 59 (71%) of 83 patients were underweight. 25 (53%) of 47 patients had elevated systolic blood pressure above the 90th percentile, 34 (76%) of 45 patients had premature atrial contractions, and 20 (31%) of 64 had resting tachycardia. The most consistent MRI finding was a global delay in myelination, which occurred in 13 (100%) of 13 patients. INTERPRETATION: Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies. FUNDING: Netherlands Organisation for Health Research and Development, and the Sherman Foundation.

• MeSH
• Biomarkers analysis   MeSH
• Child MeSH
• Adult MeSH
• Mental Disorders etiology   pathology   MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• International Agencies MeSH
• Survival Rate MeSH
• Adolescent MeSH
• Young Adult MeSH
• Mutation MeSH
• Follow-Up Studies MeSH
• Muscular Diseases etiology   pathology   MeSH
• Neurodevelopmental Disorders etiology   pathology   MeSH
• Child, Preschool MeSH
• Monocarboxylic Acid Transporters deficiency   genetics   MeSH
• Prognosis MeSH
• Retrospective Studies MeSH
• Aged MeSH
• Symporters deficiency   genetics   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Research Support, Non-U.S. Gov't MeSH

• MeSH
• Nervous System Diseases rehabilitation   MeSH
• Neurological Rehabilitation methods   MeSH
• Physical Therapy Modalities MeSH
• Publication type
• Textbook MeSH

• Conspectus
• Učební osnovy. Vyučovací předměty. Učebnice
• Fyzioterapie. Psychoterapie. Alternativní lékařství
• NML Fields
• neurologie
• rehabilitační a fyzikální medicína
• NML Publication type
• kolektivní monografie

• MeSH
• Respiratory Tract Diseases diagnosis   therapy   MeSH
• Lung Diseases diagnosis   therapy   MeSH
• Publication type
• Textbook MeSH

• Conspectus
• Patologie. Klinická medicína
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• pneumologie a ftizeologie
• NML Publication type
• kolektivní monografie

The use of pulmonary function tests (PFTs) has been widely described in airway diseases like asthma and cystic fibrosis, but for children's interstitial lung disease (chILD), which encompasses a broad spectrum of pathologies, the usefulness of PFTs is still undetermined, despite widespread use in adult interstitial lung disease. A literature review was initiated by the COST/Enter chILD working group aiming to describe published studies, to identify gaps in knowledge and to propose future research goals in regard to spirometry, whole-body plethysmography, infant and pre-school PFTs, measurement of diffusing capacity, multiple breath washout and cardiopulmonary exercise tests in chILD. The search revealed a limited number of papers published in the past three decades, of which the majority were descriptive and did not report pulmonary function as the main outcome.PFTs may be useful in different stages of management of children with suspected or confirmed chILD, but the chILD spectrum is diverse and includes a heterogeneous patient group in all ages. Research studies in well-defined patient cohorts are needed to establish which PFT and outcomes are most relevant for diagnosis, evaluation of disease severity and course, and monitoring individual conditions both for improvement in clinical care and as end-points in future randomised controlled trials.

• MeSH
• Child MeSH
• Lung Diseases, Interstitial diagnosis   physiopathology   MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Child, Preschool MeSH
• Respiratory Function Tests * MeSH
• Age Factors MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

• MeSH
• Bronchopulmonary Dysplasia diagnostic imaging   drug therapy   physiopathology   therapy   MeSH
• Child MeSH
• Respiratory System * diagnostic imaging   growth & development   MeSH
• Gestational Age MeSH
• Humans MeSH
• Infant, Premature * MeSH
• Infant, Newborn MeSH
• Respiratory Function Tests classification   MeSH
• Age Factors MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Publication type
• Case Reports MeSH
• Review MeSH