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Asthma is among the most common medical conditions affecting children and young people, with adolescence a recognised period of increased risk, overrepresented in analyses examining recent increasing asthma mortality rates. Asthma may change significantly during this period and management also occurs in the context of patients seeking increased autonomy and self-governance whilst navigating increasing academic and social demands. A number of disease factors can destabilise asthma during adolescence including: increased rates of anaphylaxis, anxiety, depression, obesity, and, in females, an emerging resistance to corticosteroids and the pro-inflammatory effects of oestrogen. Patient factors such as smoking, vaping, poor symptom recognition, treatment non-adherence and variable engagement with health services contribute to difficult to treat asthma. Significant deficiencies in the current approach to transition have been identified by a recent EAACI task force, and subsequent asthma-specific recommendations, published in 2020 provide an important framework moving forward. As with other chronic conditions, effective transition programmes plan ahead, engage with adolescents and their families to identify the patients' management priorities and the current challenges they are experiencing with treatment. Transition needs may vary significantly across asthma patients and for more complex asthma may include dedicated transition clinics involving multidisciplinary care requiring input including, amongst others, allergy and immunology, psychological medicine, respiratory physicians and scientists and nurse specialists. Across different global regions, barriers to treatment may vary but need to be elicited and an individualised approach taken to optimising asthma care which is sustainable within the local adult healthcare system. [ABSTRACT FROM AUTHOR]

Adolescent and young adult (AYA) women with pediatric-onset chronic diseases, such as cystic fibrosis (CF), face disease-specific sexual and reproductive health (SRH) concerns. Using concept mapping (CM), this study aimed to identify the SRH topics and outcomes valued by AYA women with CF and their parents. Women with CF who were 13 to 30years of age and parents of 13- to 30-year-old daughters with CF participated in an online CM study. Participants individually brainstormed, rated, and sorted SRH topics important for AYA women with CF. Using multidimensional scaling, hierarchical cluster analyses, and t tests to assess rating differences, multidisciplinary stakeholders interpreted results during in-person meetings. Twenty-four participants (13 AYAs and 11 parents) generated 109 statements around SRH in CF; 88% completed rating and sorting. Sixteen stakeholders named 6 main clusters of concepts: fertility and pregnancy, deciding to have children, birth control, navigating life, sex, and gynecologic concerns. Participants rated birth control as highest in importance for adolescent women (mean = 3.9 ± 0.1 on a 5-point scale) and fertility and pregnancy as highest for young adult women (mean = 4.2 ± 0.04). Parents provided higher importance ratings for all clusters than patient participants. Stakeholders identified patient-centered outcomes for each cluster and focused on how to improve SRH knowledge, decision making, and patient-provider communication in the subspecialty setting. Eliciting patient-centered outcomes using CM can inform improvements in the care of AYAs with pediatric-onset chronic diseases. The SRH topics and patient-centered outcomes identified in this study should inform enhancements to comprehensive clinical care delivery for these populations. [ABSTRACT FROM AUTHOR]

While the Fontan procedure has improved life expectancy, patients with single ventricle physiology have impaired exercise capacity due to limited increase in pulmonary blood flow during activity. Enhancing the "thoracic pump" using inspiratory muscle training (IMT) may ameliorate this impairment. Adult nonsmokers with Fontan physiology were recruited through Boston Children's Hospital's outpatient clinic. Participants underwent cardiopulmonary exercise testing and pulmonary function testing, followed by 12 weeks of IMT and then repeat testing. The primary endpoint was change in % predicted peak oxygen consumption (VO2). Secondary endpoints were changes in other exercise metrics. Eleven patients (6 male) were enrolled. Median ages at time of enrollment and Fontan completion were 28.8 years (25.7, 45.5) and 7.8 years (3.9, 16.5), respectively. Average baseline maximal inspiratory pressure (MIP) was normal; only 2 patients had MIP <70% predicted. Peak work rate improved significantly from baseline after 12 weeks of IMT (116.5 ± 45.0 to 126.8 ± 47.0 W, P = 0.019). Peak VO2 tended to improve (baseline 68.1 ± 14.3, change + 5.3 ± 9.6% predicted, P = 0.12), as did VE/VCO2 slope (34.1 ± 6.7 to 31.4 ± 3.6, P = 0.12). There was no change in peak tidal volume or MIP. In a small cohort of Fontan patients with mostly normal MIP, IMT was associated with significant improvement in peak work rate and a trend toward higher peak VO2 and improved ventilatory efficiency. Larger studies are needed to determine if this reflects true lack of effect or whether this pilot study was underpowered for effect size, and whether IMT is more narrowly useful for patients with impaired MIP. [ABSTRACT FROM AUTHOR]

Young adults with chronic and complex diseases face systemic barriers, care fragmentation, and increased vulnerabilities. Novel coronavirus pandemic has proven to further complicate care coordination for young adult patients with medical and psychosocial complexities. The BRIDGES Young Adult Program at Boston Children's Hospital has 6 years of experience advocating for and empowering young adults with chronic medical conditions, and their families, through outpatient consults aimed to assist with subspecialty guidance and defragmentation of care during the time of transition from pediatric to adult care. Recently, the BRIDGES consult team developed a pandemic-responsive approach to facilitate individual emergency planning and empowerment of self-management for these high-risk patients. Through the use of a virtual platform, consults were conducted with a multidisciplinary team to support patients and families with system navigation, advance care planning, emergency preparedness, chronic care management, and coping during this time of crisis. BRIDGES aimed to equip patients and families with knowledge and resources, within a rapidly changing environment, to allow for optimal self-care and self-advocacy. [ABSTRACT FROM AUTHOR]

Determination of the clonal relationship among multiple lymphoproliferative disorders occurring in individual patients has been hampered by dependence on molecular biologic techniques that require analysis of advanced lesions containing high tumor clone densities to isolate dominant, clonal antigen-receptor gene rearrangements. Polymerase chain reaction; denaturing gradient gel electrophoresis (PCR/DGGE) involves the amplification of T-cell receptor (TCR)-γ gene rearrangements followed by their electrophoresis in denaturing gradient gels. This method detects dominant TCR-γ gene rearrangements at tumor clone densities as low as 0.1%, making this assay suitable for analysis of early as well as late lesions. Using this approach, we analyzed skin lesions of lymphomatoid papulosis and either CD30+ large-cell lymphoma or early patch/plaque mycosis fungoides that developed in three patients, in each case, the dual specimens exhibited an identical band pattern by PCR/DGGE analysis, suggesting a common clonal origin. To confirm this clonal relationship, the dominant TCR-γ gene rearrangements were eluted, amplified, cloned, and sequenced. In each case, they showed identical junctional sequences. These findings are significant for several reasons: 1) they demonstrate the common clonal origin of lymphomatoid papuiosis and CD30+ large-cell lymphoma or mycosis fungoides occurring in individual patients; 2) they confirm that co-migrating PCR/DGGE bands exhibit identical nucleotide sequences; and 3) they provide a method for determining the sequence of a tumorderived TCR-γ gene rearrangement in early lesions containing a low tumor clone density. This latter feature should allow the prospective molecular staging of early cutaneous lymphoproliferative disorders. [ABSTRACT FROM AUTHOR]

Abstract: Background: CF patients often demonstrate hypersensitivity to one or multiple antibiotics due to frequent and repeated exposures. Attempts at antibiotic desensitization in this population are historically complicated by higher reaction rates, failure to complete the procedure and consequent withholding of first-line therapy. This study evaluates the outcomes of a rapid desensitization protocol developed at our institution. Methods: We retrospectively reviewed the medical records of 15 patients undergoing 52 rapid antibiotic desensitizations at Brigham and Women''s Hospital and Children''s Hospital Boston utilizing our protocol. Results: Mean FEV1 % predicted was 44.1 (SD 16.5), with two patients at <30% and one patient desensitized during bilateral lung transplantation. Adverse reactions during desensitization occurred in 13.4%, and most were mild. 100% of patients completed the protocol and ultimately tolerated subsequent full-strength antibiotic courses. Conclusions: CF patients with antibiotic hypersensitivity can safely receive first-line antibiotics via our rapid desensitization protocol, including those with severe obstructive lung disease. [Copyright &y& Elsevier]

Defective expression or function of the cystic fibrosis transmembrane conductance regulator (CFTR) underlies the hypersusceptibility of cystic fibrosis (CF) patients to chronic airway infections, particularly with Pseudomonas aeruginosa. CFTR is involved in the specific recognition of P. aeruginosa, thereby contributing to effective innate immunity and proper hydration of the airway surface layer (ASL). In CF, the airway epithelium fails to initiate an appropriate innate immune response, allowing the microbe to bind to mucus plugs that are then not properly cleared because of the dehydrated ASL. Recent studies have identified numerous CFTR-dependent factors that are recruited to the epithelial plasma membrane in response to infection and that are needed for bacterial clearance, a process that is defective in CF patients hypersusceptible to infection with this organism. [Copyright &y& Elsevier]