Search

Background: Congenital bilateral absence of the vas deferens (CBAVD) is presumed to occur prenatally and is present in over 99% of adult males with cystic fibrosis (CF). Aims: To describe [...]

Intracranial pressure was continuously monitored in 23 patients aged between 24 hours and 20 months. Fourteen had severe infections of the central nervous system (CNS) and 9 sustained prolonged cerebral ischaemia. The intracranial pressure measured at catheter placement was not a reliable indicator of the intracranial pressure that developed during the course of the disease. The mean maximal intracranial pressure in infants with CNS infection (57.4 +/- 25.8 mmHg) was significantly higher than in infants with cerebral ischaemia (34.6 +/- 17.6 mmHg). Mortality in CNS infections (36%) was closely correlated with the degree of increased intracranial pressure, while mortality in cerebral ischaemia (67%) was not. Continuous monitoring of intracranial pressure enables treatment to be started early so that intracranial pressure can be reduced and adequate cerebral perfusion pressure maintained. This may help to reduce morbidity and mortality. [ABSTRACT FROM AUTHOR]

Competing Interests: Declaration of competing interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Background: Quality of life and survival in Cystic Fibrosis (CF) have improved dramatically, making family planning a feasible option. Maternal and perinatal outcomes in women with CF (wwCF) are similar to those seen in the general population. However, the effect of undergoing multiple pregnancies is unknown., Methods: A multinational-multicenter retrospective cohort study. Data was obtained from 18 centers worldwide, anonymously, on wwCF 18-45 years old, including disease severity and outcome, as well as obstetric and newborn complications. Data were analyzed, within each individual patient to compare the outcomes of an initial pregnancy (1st or 2nd) with a multigravid pregnancy (≥3) as well as secondary analysis of grouped data to identify risk factors for disease progression or adverse neonatal outcomes. Three time periods were assessed - before, during, and after pregnancy., Results: The study population included 141 wwCF of whom 41 (29%) had ≥3 pregnancies, "multiparous". Data were collected on 246 pregnancies, between 1973 and 2020, 69 (28%) were multiparous. A greater decline in ppFEV 1 was seen in multiparous women, primarily in pancreatic insufficient (PI) wwCF and those with two severe (class I-III) mutations. Multigravid pregnancies were shorter, especially in wwCF over 30 years old, who had high rates of prematurity and newborn complications. There was no effect on pulmonary exacerbations or disease-related complications., Conclusions: Multiple pregnancies in wwCF are associated with accelerated respiratory deterioration and higher rates of preterm births. Therefore, strict follow-up by a multidisciplinary CF and obstetric team is needed in women who desire to carry multiple pregnancies., Competing Interests: Declaration of competing interest MCC received honoraria for lectures from Vertex. EP received a grant from Grifols; consulting fees from Moderna, Pfizer, Insmed and Chiesi; honoraria for lectures from Moderna, Pfizer, Vertex, GSK, TEVA, Chiesi and Insmed; payment for expert testimony from Chiesi; and support for attending meetings from Moderna, Pfizer, Vertex, GSK and Insmed. AG received consuting fees (personal) from Vertex, Menarini and Zambon; honoraria for lectures (personal) from Insmed and Vertex; support for attending meetings from Neupharma and Zambon; and payment (personal) for participation on a Data Safety Monitoring (DSM) Board or Advisory Board from Vertex. She is also an Associate Editor for Respiratory Research, Managment board member at IRENE NTM network and ERS chair Adult CF group-assembly 10. DP received consulting fees from Vertex. MMZ received support from the ECFS to attend the European CF meeting 2023. MS received grants from GSK and Trudell pharma; consulting fees (personal) from AstraZeneca, Boehringer Ingelheim, Dexel, Kamada, Synchrony medical, Trumed and Zambon; honoraria for lectures (personal) from AstraZeneca, Boehringer Ingelheim, Kamada and Sanofi; support for attending meetings from Boehringer Ingelheim, AstraZeneca and Kamada; payment (personal) for participating on DSM Board or Advisory Board from Bonus Biotherapeutics, Boehringer Ingelheim and AstraZeneca; and received oPEP devices for clinical trial from Trudell Medical International. She is also an Associate Editor at AJRCCM; Management board member at the Israeli Pulmonology society, Israeli society for Tuberculosis and mycobacterial diseases; and Editorial board member: Chest ERJ taskforce-bronchiectasis guidelines. DGD received grants from Chiesi; consulting fees from Vertex, Proteostasis and Insmed; honoraria for lectures from Chiesi and Gilead. He is also the current Director of the European CF Society Clinical Trials Network. PML received grant (institution) and payment for testimony (personal) from Vertex; consulting fees and honoraria for lectures (personal) from Vertex and Chiesi; support for attending meetings (personal) from Chiesi, Pari and AstraZeneca; and participation on a DSM Board or Advisory Board for Vertex and AstraZeneca. PJ received consulting fees from Centrum hydraulického výzkumu spol. s.r.o.; honoraria for lectures from MSD and Vertex; support for attending meetings, and participation on a DSM Board or Advisory Board from Chiesi: and leadership or fiduciary role in Vertex. TMK received a grant from the Cystic Fibrosis Foundation and the National Institutes of Health; consulting fees from the Cystic Fibrosis Foundation; and honoraria for lectures from the Johns Hopkins Institute. All other authors declare no competing interests., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Background: Although extremely premature birth disrupts lung development, adolescent survivors of extreme prematurity show good clinical and physiologic outcomes. Cardiopulmonary limitations may not be clinically evident at rest. Data regarding exercise limitation in adolescents following preterm birth in the postsurfactant era are limited., Research Question: What are the long-term effects of bronchopulmonary dysplasia (BPD) and extreme prematurity (<29 weeks) on ventilatory response during exercise in adolescents in the postsurfactant era?, Study Design and Methods: We followed a longitudinally recruited cohort of children aged 13-19 years who were born at a gestational age of <29 weeks (study group - SG). We compared the cardiopulmonary exercise testing (CPET) results of those with and without BPD, to their own CPET results from elementary school age (mean 9.09 ± 1.05 years)., Results: Thirty-seven children aged 15.73 ± 1.31 years, mean gestational age 26 weeks ( ± 1.19), completed the study. CPET parameters in adolescence were within the normal range for age, including mean V̇O 2 peak of 91% predicted. The BPD and non-BPD subgroups had similar results. In the longitudinal analysis of the SG, improvement was observed in adolescence, compared with elementary school age, in breathing reserve (36.37 ± 18.99 vs. 26.58 ± 17.92, p = 0.044), tidal volume as a fraction of vital capacity achieved at maximal load (0.51 ± 0.13 vs. 0.37 ± 0.08, p < 0.001), and respiratory exchange ratio at maximal load (1.18 ± 0.13 vs. 1.11 ± 0.10, p = 0.021)., Interpretation: In the current cohort, adolescents born extremely premature have essentially normal ventilatory response during exercise, unrelated to BPD diagnosis. CPET results in this population improve over time., (© 2024 The Authors. Pediatric Pulmonology published by Wiley Periodicals LLC.)

Background: The hallmarks of Cystic fibrosis (CF), chronic infection and inflammation, require intensive daily treatment to maintain and improve quality of life and outcome. The incidence of Attention Deficit/Hyperactivity Disorder (ADHD) is increased in chronic inflammatory diseases. Previous studies suggested that the prevalence of ADHD in people with CF (pwCF) is higher than in the general population. The objective of this study was to evaluate the association between ADHD symptoms and parameters of CF disease severity, measured by demographic and clinical data., Methods: Based on our previous study, the results of ADHD questionnaires and the MOXOCPT (continuous performance task) from 143 pwCF (7-68 years old) were analyzed and linked to patient data such as forced expiratory volume in 1 second (FEV 1 )%predicted, body mass index (BMI), number of pulmonary exacerbations, days of antibiotic (Abx) treatment and serum inflammatory markers., Results: A positive correlation between FEV 1 and ADHD questionnaire's score (p = 0.046) was observed in the children's group. Furthermore, BMI, white blood cells (WBC) count, and days of Abx treatment showed a positive correlation with some of the MOXOCPT parameters., Conclusion: There is an association between ADHD symptoms and some parameters of CF disease severity. These results highlight the need for an early diagnosis of ADHD in pwCF, which have the potential to improve their ability to deal with the burden of their disease and consequently their quality of life. Additional research is needed to understand the full spectrum of ADHD pathophysiology and the relationship with chronic inflammatory diseases such as CF., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)

Aim: In Duchenne muscular dystrophy (DMD), lung disease contributes significantly to morbidity and mortality. This study aimed to assess the usefulness of various pulmonary function tests in evaluating DMD severity., Methods: This retrospective study analysed lung function tests of patients with DMD-treated in the multidisciplinary respiratory neuromuscular clinic at Schneiders' Children Medical Center of Israel. Data were analysed according to age, ambulatory status and glucocorticoid treatment., Results: Among 90 patients with DMD, 40/63 (63.5%) ambulatory patients and 22/27 (81.5%) nonambulatory patients successfully performed spirometry. Significant annual declines were demonstrated among nonambulatory patients, in percentile predicted forced vital capacity (3.8%) and in total lung capacity (5.5%) per year. The decline correlated with age and loss of ambulation but not with steroid treatment. Peak cough flow values were randomly distributed and did not correlate with age, ambulation or treatment. In nonambulatory patients, transcutaneous carbon dioxide measurement correlated significantly with age (r = 0.55, p = 0.02)., Conclusion: Forced vital capacity, total lung capacity and transcutaneous carbon dioxide correlated with the clinical severity of disease in children with DMD. These measures may be useful in follow-up and clinical trials. A comparable correlation was not found for peak cough flow., (© 2023 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Background: Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder. Despite increased survival due to novel therapies, morbidity from respiratory complications still persists. We aim to describe these patients' sputum cultures as an expression of chronic infectious airway disease., Methods: Retrospective review of medical records of all children with SMA followed at the multidisciplinary respiratory neuromuscular clinic at Schneider Childrens' Medical Center of Israel over a 16-year period. Sputum cultures were obtained during routine visits or pulmonary exacerbations., Results: Sixty-one SMA patients, aged 1 month to 21 years, were included in this cohort. Of these, sputum cultures were collected from 41 patients. Overall, 288 sputum cultures were obtained, and 98 (34%) were negative for bacterial growth. For the first culture taken from each patient, 12 out of 41 (29%) were sterile. The most common bacteria were pseudomonas aeruginosa (PSA) (38%) and staphylococcus aureus (19.6%). PSA was found in SMA type I patients more frequently than in type II patients (15/26 = 58% vs 4/13 = 31%, p < 0.001). PSA infection was positively associated with noninvasive ventilation, recurrent atelectasis, recurrent pneumonias, swallowing difficulties, but no significant association was found with cough assist machine usage. The incidence of positive cultures did not differ between those treated with Onasemnogene abeparvovec or Nusinersen compared to those without treatment, but the age of first PSA isolation was slightly older with Nusinersen treatment (p = 0.01)., Conclusions: Airway bacterial colonization is common in SMA type I patients and is not decreased by Onasemnogene abeparvovec or Nusinersen treatment., Competing Interests: Declaration of competing interest We have no conflicts of interest to disclose., (Copyright © 2023 Elsevier Ltd. All rights reserved.)