Pediatr Pulmonol. 2021 Mar 1. doi: 10.1002/ppul.25264. Online ahead of print.

ABSTRACT

Asthma and sleep disorders are both common in childhood, and often co-exist in the same child. Moreover, studies have shown that in many children the rate of one is influenced by the other. Sleep disorders can be classified into six different groups-insomnia, hypersomnia, parasomnia, movement disorders, circadian disorders, and sleep-related breathing disorders. Children with asthma often present with complaints of insomnia with poor sleep quality, difficulty falling asleep and sleep disruptions. These complains are often associated with asthma control. They may also complain of daytime sleepiness and have higher rates of parasomnias, such as night terrors and nocturnal enuresis when compared with their healthy peers. Whether movement and circadian disorders are also more prevalent in children with asthma is less clear. Finally, there is a complex bidirectional interaction between sleep-related breathing disorders and asthma: poor sleep and sleep disorders may worsen asthma, and asthma, particularly when it is poorly controlled, may impair sleep. In the current review we examine the association of each of the sleep disorders with asthma and review the common pathophysiological pathways. We hope to convince the reader that appropriate management of asthma must include inquiries into the patient's sleep, and vice versa.

PMID:33647191 | DOI:10.1002/ppul.25264

J Particip Med. 2020 Dec 14. doi: 10.2196/24966. Online ahead of print.

ABSTRACT

BACKGROUND: Patient-Centered Outcomes Research (PCOR) engages patients as partners in research and focuses on questions and outcomes that are important to patients. Traditionally conducted in-person, COVID-19 has forced PCOR teams to engage via online platforms. Similarly, virtual engagement is the only safe choice for members of the cystic fibrosis (CF) community who spend their lives living under strict infection control guidelines, and who were already prevented from meeting in-person. In the absence of universal best practices, the CF community developed its own guide to help PCOR teams engage virtually.

OBJECTIVE: To identify important attributes, facilitators, and barriers to teams when selecting online platforms.

METHODS: We conducted semi-structured interviews with CF community members, non-profit stakeholders, and researchers about their experiences using online tools including the effectiveness, efficiency, satisfaction with, and confidence using each platform. Interviews conducted via Zoom conferencing were audio recorded and transcribed. We identified key themes using content analysis with an iterative, inductive and deductive coding process.

RESULTS: Fifteen participants reported using online platforms for meetings, project management, document sharing, scheduling, and communication. When selecting online platforms, participants valued accessibility, ease of use, and integration of the platforms with other platforms. Participants thought successful online collaboration utilized platforms that resemble in-person interactions, recognized team member technological literacy levels, provided intentional alignment of platforms with collaboration goals, and achieved team member buy-in to adopt new platforms.

CONCLUSIONS: Successful online PCOR engagement requires using multiple platforms in order to fully meet the asynchronous or synchronous goals for the project. This study identified key attributes beneficial for conducting PCOR online, as well as common challenges and solutions to using online platforms. Our study findings provide best practices for selecting types of platforms and lessons learned from online PCOR collaborations. We used these findings to create a Guide for Online PCOR Engagement: https://familymedicine.uw.edu/pcor-guide/.

PMID:33646964 | DOI:10.2196/24966

Turk Thorac J. 2021 Jan;22(1):37-44. doi: 10.5152/TurkThoracJ.2020.19077. Epub 2021 Jan 1.

ABSTRACT

OBJECTIVE: Bronchiectasis is characterized by chronic respiratory infection. The role of immunodeficiency in this disease is poorly studied in relation to clinical indices. The primary aim of this study was to determine the frequency of these neglected altered immune status by evaluating immunoglobulins, lymphocyte subsets, complement levels, and neutrophil function, and to assess its relationship with clinical parameters in adult patients with non-cystic fibrosis bronchiectasis (NCFB).

MATERIAL AND METHODS: A total of 74 (30 men and 44 women with a mean age of 47±17 years) adult patients with stable NCFB were enrolled in this study. The bronchiectasis severity index (BSI) and FACED (F:FEV1, A: Age, C: Chronic colonization, E: Extension, D: Dyspnea) scores were assessed. Peripheral blood samples were collected for the detection of total IgG, IgA, IgM, IgE, and IgG subclasses and C3 and C4 levels. The counts of CD3, CD4, CD8, CD19, CD16/56 expressing peripheral blood lymphocytes and neutrophil oxidative function were evaluated.

RESULTS: In the study population, BSI and FACED severity index scores increased with longer duration of the disease (p=0.01 and p=0.040, respectively). Of the 74 patients, 27 (37%) showed humoral aberrations. The number of male patients were higher in this group (p=0.03). High serum total IgE levels were associated with high scores in BSI (moderate-severe group versus mild group, p=0.030). Patients with bronchiectasis demonstrated lower CD3+ T cell count, lower CD4+ T helper cell percentage, and lower CD4+ T cell count (p=0.031, p=0.030, p=0.029, respectively) than healthy subjects. A significant negative correlation was found between the percentage and count of CD16/56+ natural killer (NK) cells and the number of exacerbations within the past year (r=-0.230, p=0.049 and r=-0.264, p=0.023, respectively).

CONCLUSION: Humoral aberrations in adult patients with NCFB were found to be frequent. IgE levels were related to high scores for disease severity indices. Furthermore, patients with low percentage and counts of NK cells had higher rates of exacerbations. These results emphasize the importance of immune function assessment in adult patients with NCFB.

PMID:33646102 | DOI:10.5152/TurkThoracJ.2020.19077

J Craniofac Surg. 2021 Jan 12. doi: 10.1097/SCS.0000000000007390. Online ahead of print.

ABSTRACT

OBJECTIVES: Paranasal sinus mucocele is a benign cystic lesion, lined with respiratory epithelium and filled with mucoid secretions, which is generally seen in the ethmoid or frontal sinuses. Inflammation, trauma, fibrosis, neoplasm, and previous surgery play a role in etiology. Treatment of this condition requires marsupialization and drainage. Endoscopic surgery is the gold standard procedure.

METHODS: A 2-year-old boy was referred to our clinic with a diagnosis of bilateral ethmoid mucocele causing proptosis in the right eye. General clinical examinations and routine blood analysis revealed normal health condition of the patient and comorbidities such as cystic fibrosis (CF) and/or ciliary dysfunction were excluded. The patient was operated with an endoscopic endonasal approach.

RESULTS: As far as we know, our article reports the first case of bilateral ethmoidal sinus mucocele with no underlying comorbidity, such as cystic fibrosis or ciliary dyskinesia.

CONCLUSIONS: Children are rarely affected by mucocele and if present at early age, there is usually an underlying cause. In pediatric patients with signs and symptoms suggestive of a mucocele, it is important to rule out other benign and malignant paranasal sinus pathologies. Marsupialization and drainage via endoscopic endonasal approach is the preferred treatment modality.

PMID:33645952 | DOI:10.1097/SCS.0000000000007390

Med Res Rev. 2021 Mar 1. doi: 10.1002/med.21798. Online ahead of print.

ABSTRACT

The Mycobacterium abscessus complex is a group of emerging pathogens that are difficult to treat. There are no effective drugs for successful M. abscessus pulmonary infection therapy, and existing drug regimens recommended by the British or the American Thoracic Societies are associated with poor clinical outcomes. Therefore, novel antibacterial drugs are urgently needed to contain this global threat. The current anti-M. abscessus small-molecule drug development process can be enhanced by two parallel strategies-discovery of compounds from new chemical classes and commercial drug repurposing. This review focuses on recent advances in the finding of novel small-molecule agents, and more particularly focuses on the activity, mode of action and structure-activity relationship of promising inhibitors from five different chemical classes-benzimidazoles, indole-2-carboxamides, benzothiazoles, 4-piperidinoles, and oxazolidionones. We further discuss some other interesting small molecules, such as thiacetazone derivatives and benzoboroxoles, that are in the early stages of drug development, and summarize current knowledge about the efficacy of repurposable drugs, such as rifabutin, tedizolid, bedaquiline, and others. We finally review targets of therapeutic interest in M. abscessus that may be worthy of future drug and adjunct therapeutic development.

PMID:33645845 | DOI:10.1002/med.21798

Biomed Khim. 2021 Jan;67(1):17-33. doi: 10.18097/PBMC20216701017.

ABSTRACT

Ca2+-activated chloride channels (CaCC) are a class of intracellular calcium activated chloride channels that mediate numerous physiological functions. In 2008, the molecular structure of CaCC was determined. CaCC are formed by the protein known as anoctamine 1 (ANO1 or TMEM16A). CaCC mediates the secretion of Cl- in secretory epithelia, such as the airways, salivary glands, intestines, renal tubules, and sweat glands. The presence of CaCC has also been recognized in the vascular muscles, smooth muscles of the respiratory tract, which control vascular tone and hypersensitivity of the respiratory tract. TMEM16A is activated in many cancers; it is believed that TMEM16A is involved in carcinogenesis. TMEM16A is also involved in cancer cells proliferation. The role of TMEM16A in the mechanisms of hypertension, asthma, cystic fibrosis, nociception, and dysfunction of the gastrointestinal tract has been determined. In addition to TMEM16A, its isoforms are involved in other physiological and pathophysiological processes. TMEM16B (or ANO2) is involved in the sense of smell, while ANO6 works like scramblase, and its mutation causes a rare bleeding disorder, known as Scott syndrome. ANO5 is associated with muscle and bone diseases. TMEM16A interacts with various cellular signaling pathways including: epidermal growth factor receptor (EGFR), mitogen-activated protein kinases (MAPK), calmodulin (CaM) kinases, transforming growth factor TGF-β. The review summarizes existing information on known natural and synthetic compounds that can block/modulate CaCC currents and their effect on some pathologies in which CaCC is involved.

PMID:33645519 | DOI:10.18097/PBMC20216701017

Int J Popul Data Sci. 2020 Aug 11;5(1):1346. doi: 10.23889/ijpds.v5i1.1346.

ABSTRACT

INTRODUCTION: The challenges in identifying a cohort of people with a rare condition can be addressed by routinely collected, population-scale electronic health record (EHR) data, which provide large volumes of data at a national level. This paper describes the challenges of accurately identifying a cohort of children with Cystic Fibrosis (CF) using EHR and their validation against the UK CF Registry.

OBJECTIVES: To establish a proof of principle and provide insight into the merits of linked data in CF research; to identify the benefits of access to multiple data sources, in particular the UK CF Registry data, and to demonstrate the opportunity it represents as a resource for future CF research.

METHODS: Three EHR data sources were used to identify children with CF born in Wales between 1st January 1998 and 31st August 2015 within the Secure Anonymised Information Linkage (SAIL) Databank. The UK CF Registry was later acquired by SAIL and linked to the EHR cohort to validate the cases and explore the reasons for misclassifications.

RESULTS: We identified 352 children with CF in the three EHR data sources. This was greater than expected based on historical incidence rates in Wales. Subsequent validation using the UK CF Registry found that 257 (73%) of these were true cases. Approximately 98.7% (156/158) of individuals identified as CF cases in all three EHR data sources were confirmed as true cases; but this was only the case for 19.8% (20/101) of all those identified in just a single data source.

CONCLUSION: Identifying health conditions in EHR data can be challenging, so data quality assurance and validation is important or the merit of the research is undermined. This retrospective review identifies some of the challenges in identifying CF cases and demonstrates the benefits of linking cases across multiple data sources to improve quality.

PMID:33644411 | PMC:PMC7898022 | DOI:10.23889/ijpds.v5i1.1346

Iran J Basic Med Sci. 2021 Jan;24(1):73-78. doi: 10.22038/ijbms.2020.50051.11415.

ABSTRACT

OBJECTIVES: Cystic fibrosis (CF) is an inherited autosomal recessive disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The present study aimed to investigate the genetic modification of CF with ΔF508 mutation of the CFTR gene using CRISPR in peripheral blood mononuclear cells (PBMCs).

MATERIALS AND METHODS: Two single guide RNAs were designed to target sequences in the CFTR gene. The transfection efficiency of PBMC cells was examined through evaluation of green fluorescent protein (GFP) expression using fluorescent microscopy. Moreover, a sgRNA-Cas9 plasmid was tested to target the CFTR gene. The ΔF508 gene modification was evaluated and confirmed by PCR and Sanger sequencing methods.

RESULTS: Our results indicate the feasibility of site-specific gene targeting with the CRISPR/Cas9 system. 33% of the samples were corrected using CRISPR in mutant locus and confirmed by sequence blast at NCBI databases and primers outside the arm locus. CRISPR/Cas9 approach represents an efficient tool to repair the ΔF508 mutation of the CFTR gene in PBMC Cells.

CONCLUSION: Therefore, the CRISPR system can be highly efficient and specific and provides a powerful approach for genetic engineering of cells and model animals. Generally, the proposed method opens new insights into the treatment of human diseases.

PMID:33643573 | PMC:PMC7894636 | DOI:10.22038/ijbms.2020.50051.11415

Vet World. 2021 Jan;14(1):33-39. doi: 10.14202/vetworld.2021.33-39. Epub 2021 Jan 6.

ABSTRACT

BACKGROUND AND AIM: Trypanosomiasis, also known as surra, is an infectious disease with a wide host spectrum. In Indonesia, this disease is caused by Trypanosoma evansi. Various trypanocidal drugs have been used to treat this pathogen and subsequent disease. Yet, the long-term trypanocidal administration generates drug-resistant T. evansi. Some have identified genetic alterations in T. evansi transporter protein-coding genes that may be responsible for drug resistance. The Multidrug Resistance Protein E (MRPE) gene is a likely candidate gene responsible for the individual resistance. To date, no research has focused on T. evansi MRPE (TevMRPE) in this context. Hence, this research aimed at analyzing and characterizing the TevMRPE gene and protein using a bioinformatics approach.

MATERIALS AND METHODS: T. evansi was isolated from buffalo suffering from surra in Ngawi Regency, Indonesia. Isolated T. evansi was inoculated and cultured in male mice. The T. evansi genome was isolated from mouse blood with a parasitemia degree as high as 105. A polymerase chain reaction procedure was conducted to amplify the putative MRPE coding gene. The amplicon was sequenced and analyzed using MEGA X, BLAST, and I-tasser softwares.

RESULTS: The putative TevMRPE coding gene showed sequence similarity as high as 99.79% against the MRPE gene from Trypanosoma brucei gambiense. The protein profile and characteristics depicted that the putative TevMRPE protein was related to a family of Adenosine Triphosphate-Binding Cassette (ABC) transporter proteins. This family of transporter proteins plays a crucial role in the resistance toward several medicines.

CONCLUSION: The obtained gene sequence in this research was identified as the TevMRPE. This gene is homologous to the T. brucei gambiense MRPE gene and possesses ligand active sites for Adenylyl Imidodiphosphate. In addition, MRPE contains enzyme active sites similar to the cystic fibrosis transmembrane conductance regulator. These data suggest that ABC transport proteins, like MRPE, may be necessary to confer trypanocidal drug resistance in T. evansi.

PMID:33642783 | PMC:PMC7896887 | DOI:10.14202/vetworld.2021.33-39

Child Care Health Dev. 2021 Feb 27. doi: 10.1111/cch.12860. Online ahead of print.

ABSTRACT

BACKGROUND: Whilst the importance of patient empowerment is increasingly recognised, little is known about empowerment in children and young people (CYP) with long-term conditions. Empowerment may be particularly important in CYP with cystic fibrosis (CF) due to high treatment burden and limited opportunities for peer support.

METHODS: A Grounded Theory method was employed to develop a preliminary theory of empowerment in CYP with CF. Seven CYP with CF, five parents and four professionals were interviewed.

RESULTS AND CONCLUSIONS: The emerging model suggests that 'thriving alongside CF' may be supported by interactions between 'having a team' and 'taking charge and having a voice', leading to 'being able to just be a child', that 'concealing self' may get in the way of 'thriving alongside CF' and that these processes occur within wider medical and developmental contexts. Study limitations, clinical and research implications are discussed.

PMID:33638555 | DOI:10.1111/cch.12860

Hepatology. 2021 Feb 26. doi: 10.1002/hep.31772. Online ahead of print.

ABSTRACT

Organoid culture systems have emerged as a frontier technology in liver and biliary research. These 3-dimensional (3D) cell cultures derived from pluripotent and adult hepatobiliary cells model organ structure and function. Building on gastrointestinal organoid establishment, the first hepatobiliary organoid cultures were generated from mouse LGR5+ liver progenitor cells. Subsequently, 3D hepatobiliary organoid cultures were developed from hepatocytes and cholangiocytes to model human and animal hepatobiliary health and disease. Hepatocyte organoids have been used to study Alagille syndrome, fatty liver disease, Wilson's disease, hepatitis B viral infection, and cystic fibrosis. Cholangiocyte organoids have been established to study normal cholangiocyte biology and primary sclerosing cholangitis, and to test organoid potential to form bile ducts and gallbladder in vitro. Hepatobiliary cancer organoids, termed tumoroids, have been established from frozen and fresh human tissues and used as a drug-testing platform and for biobanking of cancer samples. CRISPR-based gene modifications and organoid exposure to infectious agents have permitted the generation of organoid models of carcinogenesis. This review summarizes currently available adult cell-derived hepatobiliary organoid models and their applications. Challenges faced by this young technology will be discussed, including cellular immaturity of organoid-derived hepatocytes, co-culture development to better model complex tissue structure, imperfection of extracellular matrices, and absence of standardized protocols and model validation.

PMID:33638203 | DOI:10.1002/hep.31772

J Cyst Fibros. 2021 Feb 23:S1569-1993(21)00041-2. doi: 10.1016/j.jcf.2021.02.006. Online ahead of print.

NO ABSTRACT

PMID:33637432 | DOI:10.1016/j.jcf.2021.02.006

Syst Rev. 2021 Feb 26;10(1):64. doi: 10.1186/s13643-021-01614-8.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is a genetically inherited, life-limiting condition, affecting ~90,000 people globally. Physical activity (PA) and exercise form an integral component of CF management, and have been highlighted by the CF community as an area of interest for future research. Previous reviews have solely focused on PA or structured exercise regimens independent of one another, and thus a comprehensive assessment of the physical health benefits of all PA, including exercise, interventions, is subsequently warranted. Therefore, the purpose of this review is to evaluate the effects of both PA and exercise upon outcomes of physical health and healthcare utilisation in people with CF.

METHODS: A systematic review has been registered and reported in line with Preferred Reporting Items for Systematic Reviews and Meta-Analysis-P guidelines. This will include randomised control trials on the effects of PA and exercise, relative to usual treatment, upon people with CF. Primary outcomes will include variables associated with fitness, PA, lung health, inflammation, body composition, glycaemic control and patient-reported outcomes. Secondary outcomes will include adverse events and healthcare utilisation. Searches will be undertaken in Ovid MEDLINE, OVID EMBASE, PsychINFO, ERIC, SPORTDiscus, ASSIA, CCTR, CINHAL and Web of Science databases, and will be searched from date of inception onwards. Two reviewers will independently screen citations and abstracts, and full-texts, for inclusion and data extraction, respectively. Methodological quality will be assessed using the Cochrane Risk of Bias-2 tool. If feasible, random-effects meta-analyses will be conducted where appropriate. Additional analyses will explore potential sources of heterogeneity, such as age, sex, and disease severity.

DISCUSSION: This systematic review will build on previous research, by comprehensively assessing the impact of both PA and exercise upon physical health and healthcare utilisation in people with CF. Results of this review will be utilised to inform discussions that will ultimately result in a consensus document on the impact of physical activity and exercise for people with CF.

SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42020184411.

PMID:33637136 | DOI:10.1186/s13643-021-01614-8

Ann Am Thorac Soc. 2021 Feb 26. doi: 10.1513/AnnalsATS.202012-1484RL. Online ahead of print.

NO ABSTRACT

PMID:33636092 | DOI:10.1513/AnnalsATS.202012-1484RL

Hepatology. 2021 Feb 26. doi: 10.1002/hep.31770. Online ahead of print.

ABSTRACT

Pulmonary disease in liver cirrhosis and portal hypertension constitutes a challenging clinical scenario and may have important implications with regard to prognosis, liver transplantation (LT) candidacy and post-LT outcome. Pre-LT evaluation should include adequate screening for pulmonary diseases that may occur concomitantly with liver disease as well as for those that may arise as a complication of end-stage liver disease and portal hypertension, as either may jeopardize safe LT and successful outcome. It is key to discriminate those patients who would benefit from LT, especially pulmonary disorders that have been reported to resolve post-LT and are considered 'pulmonary indications' for transplant, from those who are at increased mortality risk and in whom LT is contraindicated. In conclusion, in this manuscript, we review the impact of several pulmonary disorders, including cystic fibrosis, alpha 1-antitrypsin deficiency, hereditary hemorrhagic telangiectasia, sarcoidosis, COVID-19, asthma, chronic obstructive pulmonary disease, pulmonary nodules, interstitial lung disease, hepatic hydrothorax, hepatopulmonary syndrome and portopulmonary hypertension, on post-LT survival, as well as the reciprocal impact of LT on the evolution of lung function.

PMID:33636019 | DOI:10.1002/hep.31770

J Med Microbiol. 2021 Feb;70(2). doi: 10.1099/jmm.0.001312.

NO ABSTRACT

PMID:33635186 | DOI:10.1099/jmm.0.001312

Lab Anim (NY). 2021 Mar;50(3):62. doi: 10.1038/s41684-021-00733-y.

NO ABSTRACT

PMID:33633387 | DOI:10.1038/s41684-021-00733-y

Sci Rep. 2021 Feb 25;11(1):4524. doi: 10.1038/s41598-021-84028-9.

ABSTRACT

Impulse oscillometry (IOS) allows evaluation of the compartmentalized resistance and reactance of the respiratory system, distinguishing central and peripheral obstruction. The IOS measurements are getting attention in the diagnosis and differentiation of chronic respiratory diseases. However, no data are available in the literature to differentiate between COPD and BE using IOS parameters. We aimed to evaluate the feasibility of IOS in the diagnosis of bronchiectasis non-cystic fibrosis (BE) in comparison to COPD. Whole breath, inspiration, expiration, and inspiratory-expiratory difference (Δ) were evaluated based on the IOS parameters: total resistance (R5), central airway resistance (R20), peripheral airway resistance (R5-R20), reactance (X5), reactance area (AX), and resonance frequency (Fres). Fifty-nine subjects (21 Healthy, 19 BE, and 19 COPD) participated in this study. It was observed a significant difference in the comparison of healthy and pulmonary disease groups (BE and COPD) for total breathing (R5-R20, X5, AX, and Fres), inspiratory phase (R5 and R5-R5), and expiratory phase (R5-R20 and X5). The comparison between BE and COPD groups showed significant difference in the expiratory phase for resistance at 5 and 20 Hz and, ΔR5 and ΔR20. The IOS evidenced an increase of R5, R20 and R5-R20 in patients with BE and COPD when compared to healthy subjects. Expiratory measures of IOS revealed increased airway resistance in COPD compared to BE patients who had similar FEV1 measured by spirometry, however, further studies are needed to confirm these differences.

PMID:33633234 | DOI:10.1038/s41598-021-84028-9

J Pediatr Gastroenterol Nutr. 2021 Feb 24. doi: 10.1097/MPG.0000000000003095. Online ahead of print.

ABSTRACT

Reference values are important for patient care as well as for comparisons between different centres or countries. We investigated two anthropometric reference datasets, the US Centers for Disease Control (CDC) growth charts and the German Health Interview and Examination Survey for Children and Adolescents Study (KiGGS) percentiles, which were established in Germany between 2003 and 2006. A smaller proportion of children with cystic fibrosis had decreased z-scores <-2 with CDC (5.0% for weight and 3.0% for height) compared to KiGGS (7.4% for weight and 6.3% for height) values (p<0.0001). Median z-scores were higher using the CDC reference data. Thus, the choice of growth reference is important, may influence clinical management and must be considered when comparing outcomes of different institutions.

PMID:33633076 | DOI:10.1097/MPG.0000000000003095

Arch Dis Child. 2021 Feb 25:archdischild-2020-320219. doi: 10.1136/archdischild-2020-320219. Online ahead of print.

ABSTRACT

OBJECTIVE: Absent pulmonary valve syndrome (APV) is a rare condition usually associated with tetralogy of Fallot (TOF). Some infants develop respiratory failure from bronchial compression and the long-term neurodevelopmental outcome is unknown. We aimed to investigate the outcomes of APV and the need for long-term ventilation (LTV).

DESIGN, PATIENTS AND SETTING: Retrospective single-centre review of patients diagnosed with APV between 2007 and 2017.

OUTCOME MEASURES: Survival, neurological disability and postoperative LTV (≥3 months of non-invasive or invasive respiratory support).

RESULTS: Thirty patients were identified, 22 (73%) of whom were prenatally diagnosed. Pregnancy was discontinued in one patient, while in utero death occurred in three. One was lost to follow-up. Of the remaining 25 liveborn, 21 had the classic TOF/APV. One baby died immediately after birth, while two patients had palliative care due to severe airway compression and inability to wean ventilation support. Surgical repair was performed in 21 of the 25 (84%) liveborn, with one awaiting surgery. Of those undergoing surgery, two patients died: one during surgery and the other due to severe airway malacia 5 months postsurgery. In the surgical group survival from birth at 1 and 5 years was 89% (95% CI 75% to 100%). Six (30%) patients required LTV postoperatively; all had surgery within the first 6 months of life. Learning and/or other physical difficulties were evident in 63%.

CONCLUSIONS: Majority of patients with APV are diagnosed antenatally. A third of those operated required LTV and over half had learning and/or other physical difficulties. Prospective studies are needed to identify prenatal factors that predict postnatal outcomes so parents can be counselled appropriately.

PMID:33632783 | DOI:10.1136/archdischild-2020-320219