keyword
https://read.qxmd.com/read/38411295/successful-atorvastatin-treatment-of-pulmonary-alveolar-proteinosis-in-a-child-with-gm-csf-receptor-deficiency
#1
JOURNAL ARTICLE
Halime Nayır Büyükşahin, Ebru Yalçın, Ali Özdemir, Mithat Haliloglu, Diclehan Orhan, Matthias Griese, Florian Gothe, Christina Rapp, Sandra Gräfin V Hardenberg, Sehend Debbağ, İsmail Güzelkaş, Nagehan Emiralioğlu, Deniz Doğru, Uğur Özçelik, Nural Kiper
No abstract text is available yet for this article.
February 27, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38369300/a-case-of-sting-associated-vasculopathy-with-onset-in-infancy-with-novel-sting1-variant
#2
Kelly K Barry, Julie S Kranseler, Sarah N Robinson
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, monogenic interferonopathy caused by gain-of-function variants in STING1 (TMEM173) characterized by systemic inflammation, cutaneous vasculopathy, and interstitial lung disease. We report a case of SAVI attributed to a novel STING1 p.R284T variant who demonstrated characteristic cutaneous features including telangiectasias, livedo and acrocyanotic changes on face and extremities, as well as saddle nose deformity, failure to thrive, inflammatory arthritis and notable lack of pulmonary disease or autoantibody positivity...
February 18, 2024: Pediatric Dermatology
https://read.qxmd.com/read/38333650/hyperoxic-ventilatory-response-in-infants-is-related-to-nocturnal-hypoxaemia
#3
JOURNAL ARTICLE
Václav Koucký, Pavlína Koucká, Miroslav Koucký
BACKGROUND: The carotid bodies primarily serve as oxaemia sensors that affect tidal breathing. Their function has not yet been studied in infants with nocturnal hypoxaemia. This cross-sectional study aimed to characterise the hyperoxic ventilatory response (HVR) in infants and its relationship to nocturnal hypoxaemia. METHODS: The HVR was analysed in term infants aged <24 months with childhood interstitial lung disease (chILD), those with severe recurrent wheezing (wheeze), and nonrespiratory controls...
January 2024: ERJ Open Research
https://read.qxmd.com/read/38289091/estimating-the-effect-of-nintedanib-on-forced-vital-capacity-in-children-and-adolescents-with-fibrosing-interstitial-lung-disease-using-a-bayesian-dynamic-borrowing-approach
#4
JOURNAL ARTICLE
Toby M Maher, Kevin K Brown, Steven Cunningham, Emily M DeBoer, Robin Deterding, Elizabeth K Fiorino, Matthias Griese, Nicolaus Schwerk, David Warburton, Lisa R Young, Martina Gahlemann, Florian Voss, Christian Stock
BACKGROUND: The rarity of childhood interstitial lung disease (chILD) makes it challenging to conduct powered trials. In the InPedILD trial, among 39 children and adolescents with fibrosing ILD, there was a numerical benefit of nintedanib versus placebo on change in forced vital capacity (FVC) over 24 weeks (difference in mean change in FVC % predicted of 1.21 [95% confidence interval: -3.40, 5.81]). Nintedanib has shown a consistent effect on FVC across populations of adults with different diagnoses of fibrosing ILD...
January 30, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38277621/allogeneic-hematopoietic-cell-transplantation-ameliorated-asymptomatic-granulomatous-and-lymphocytic-interstitial-lung-disease-in-a-patient-with-xiap-deficiency
#5
JOURNAL ARTICLE
Mai Oshima, Yukihiro Matsukawa, Yuhachi Ikeda, Kenichi Sakamoto, Takashi Taga, Yoshihiro Maruo
X-linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity (IEI). Allogeneic hematopoietic cell transplantation (HCT) is currently the only curative therapy available for XIAP deficiency. Granulomatous and lymphocytic interstitial lung disease (GLILD) is a common immune-related lung complication of IEIs. We present a 6-year-old boy with XIAP deficiency and GLILD. Computed tomography showed lung nodes but no symptoms. Before HCT, GLILD was not managed with immunosuppressive therapy, because he was asymptomatic...
January 22, 2024: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/38240460/long-term-effects-of-high-dose-systemic-corticosteroids-on-growth-and-bone-mineral-density-in-patients-treated-for-childhood-interstitial-lung-disease-child
#6
JOURNAL ARTICLE
Astrid Madsen Ring, Frederik F Buchvald, Katharina M Main, Peter Oturai, Kim G Nielsen
BACKGROUND: Children's interstitial lung disease (chILD) is a rare and potentially life-threatening condition. For many chILD conditions, systemic corticosteroids (sCCS) are considered the primary treatment despite a broad spectrum of potential side effects. AIM: We aimed to determine the long-term effects of sCCS treatment on growth, bone mineral density (BMD), and body composition after chILD. MATERIALS AND METHODS: This descriptive cross-sectional single-center study included patients diagnosed with chILD before the age of 18 years treated with sCCS in the period 1998-2020...
January 19, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38226623/human-pluripotent-stem-cell-modeling-of-alveolar-type-2-cell-dysfunction-caused-by-abca3-mutations
#7
JOURNAL ARTICLE
Yuliang L Sun, Erin E Hennessey, Hillary Heins, Ping Yang, Carlos Villacorta-Martin, Julian Kwan, Krithi Gopalan, Marianne James, Andrew Emili, F Sessions Cole, Jennifer A Wambach, Darrell N Kotton
Mutations in ATP-binding cassette A3 (ABCA3), a phospholipid transporter critical for surfactant homeostasis in pulmonary alveolar type II epithelial cells (AEC2s), are the most common genetic causes of childhood interstitial lung disease (chILD). Treatments for patients with pathological variants of ABCA3 mutations are limited, in part due to a lack of understanding of disease pathogenesis resulting from an inability to access primary AEC2s from affected children. Here, we report the generation of AEC2s from affected patient induced pluripotent stem cells (iPSCs) carrying homozygous versions of multiple ABCA3 mutations...
January 16, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38199047/neonatal-onset-pulmonary-alveolar-proteinosis-is-a-phenotype-associated-with-poor-outcomes-in-surfactant-protein-c-disorder
#8
JOURNAL ARTICLE
Ryota Honjo, Kazutoshi Cho, Kahoko Hashimoto, Kenta Takeda, Yoshitaka Seto, Yosuke Kaneshi, Yuta Furuse, Atsushi Manabe
BACKGROUND: Surfactant protein C (SP-C) disorder is a major component of hereditary interstitial lung disease (HILD) among Japanese. The correlation between clinical outcomes and the phenotype/genotype of SP-C disorder has not been evaluated comprehensively. The current study aimed to evaluate the phenotype/genotype correlated with poor outcomes in patients with SP-C disorder. METHODS: Sequencing analysis of SFTPC in 291 candidates with HILD was performed. The phenotype and genotype correlated with poor outcomes were examined...
January 4, 2024: Early Human Development
https://read.qxmd.com/read/38178067/a-rare-manifestation-of-sting-associated-vasculopathy-with-onset-in-infancy-a-case-report
#9
JOURNAL ARTICLE
Sophia Weidler, Sarah Koss, Christine Wolf, Nadja Lucas, Jürgen Brunner, Min Ae Lee-Kirsch
BACKGROUND: STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation and various degrees of immunodeficiency and autoimmunity. CASE PRESENTATION: We report the case of a 5 year old child and his mother, both of whom presented with systemic inflammatory symptoms yet widely varying organ involvement, disease course and therapeutic response...
January 4, 2024: Pediatric Rheumatology Online Journal
https://read.qxmd.com/read/38151454/pulmonary-fibrosis-treatment-in-children-what-have-we-learnt-from-studies-in-adults
#10
REVIEW
Michael B Jia, Dominic A Fitzgerald
Pulmonary fibrosis (PF) in children is a rare complication of specific forms of childhood interstitial lung diseases (chILD) with extremely limited scientific evidence to guide optimal management. Whilst there continues to be significant progress in PF management for adult populations, paediatric guidelines have stagnated. New anti-fibrotic medications (nintedanib and pirfenidone) are finding regular use amongst adult PF patients but remain largely unstudied and untested in children. Although there are major differences between the two age-group populations, it is useful to learn from the evolution of adult PF management, especially in the absence of dedicated paediatric studies...
December 7, 2023: Paediatric Respiratory Reviews
https://read.qxmd.com/read/38146112/whole-exome-sequencing-to-identify-undiagnosed-primary-immunodeficiency-disorders-in-children-with-community-acquired-sepsis-admitted-in-the-pediatric-intensive-care-unit
#11
JOURNAL ARTICLE
Elham Rayzan, Mona Mirbeyk, Parmida Sadat Pezeshki, Masoud Mohammadpour, Bahareh Yaghmaie, Seyed Abbas Hassani, Meisam Sharifzadeh, Leila Tahernia, Nima Rezaei
BACKGROUND: Whole-exome sequencing (WES) provides a powerful diagnostic tool for identifying primary immunodeficiency diseases (PIDs). This study explores the utility of this approach in uncovering previously undiagnosed PIDs in children with community-acquired sepsis (CAS), with a medical history of recurrent infections or a family history of PIDs. METHODS: We performed WES on DNA samples extracted from the blood of the 34 enrolled patients, followed by bioinformatic analysis for variant calling, annotation, and prioritization...
December 2023: Pediatric Allergy and Immunology
https://read.qxmd.com/read/38130590/trimethoprim-sulfamethoxazole-induced-lung-injury-a-case-report
#12
Peiqi Huang, Kai-Qian Kam, Yi Hua Tan, May Ping Lee, Su-Wan Bianca Chan, Jan Hau Lee
BACKGROUND: Trimethoprim-sulfamethoxazole (TMP-SMX) is a commonly used antibiotic. While cutaneous adverse drug reactions associated with TMP-SMX are commonly recognized, lung toxicity induced by TMP-SMX is an unusual condition, with scattered reports of hypersensitivity pneumonitis, acute fibrinous organizing pneumonia, interstitial lung disease and acute respiratory distress syndrome. Reports of TMP-SMX-associated drug-induced lung injury (DLI) are rare in the pediatric population and its pathogenesis is not well understood...
November 28, 2023: Translational Pediatrics
https://read.qxmd.com/read/38109904/-kids-lung-registry-and-child-eu-project-progress-in-rare-and-interstitial-lung-diseases-in-childhood-through-collaboration
#13
JOURNAL ARTICLE
Matthias Griese, Angelika Gold, Florian Gothe, Hannah Kaiser, Birgit Kammer, Matthias Kappler, Ingrid Krueger-Stollfuss, Julia Ley-Zaporozhan, Katarzyna Michel, Christina K Rapp, Simone Reu-Hofer, Hans Rock, Andrea Schams, Nguyen-Binh Tran, Nicolaus Schwerk
BACKGROUND: Progress in rare and interstitial lung disease in childhood can most usefully be achieved through systematic, registry-based collection. QUESTION AND METHODS: What are the practicalities and benefits of participating in the pediatric lung registry/chILD-EU project? We report our clinical experiences. RESULTS: Pediatricians and pediatric pulmonologists identify children with rare lung diseases. These are reported to the Kid's Lung Register after parental consent...
December 18, 2023: Klinische Pädiatrie
https://read.qxmd.com/read/38002818/clinical-characteristics-and-immune-responses-in-children-with-primary-ciliary-dyskinesia-during-pneumonia-episodes-a-case-control-study
#14
JOURNAL ARTICLE
Danli Lu, Wenhao Yang, Rui Zhang, Yan Li, Tianyu Cheng, Yue Liao, Lina Chen, Hanmin Liu
OBJECTIVE: This study explored the clinical features and immune responses of children with primary ciliary dyskinesia (PCD) during pneumonia episodes. METHODS: The 61 children with PCD who were admitted to hospital because of pneumonia were retrospectively enrolled into this study between April 2017 and August 2022. A total of 61 children with pneumonia but without chronic diseases were enrolled as the control group. The clinical characteristics, levels of inflammatory indicators, pathogens, and imaging features of the lungs were compared between the two groups...
October 24, 2023: Children
https://read.qxmd.com/read/37996258/learning-from-cystic-fibrosis-how-can-we-start-to-personalise-treatment-of-children-s-interstitial-lung-disease-child
#15
REVIEW
Andrew Bush
Cystic fibrosis (CF) is a monogenic disorder cause by mutations in the CF Transmembrane Regulator (CFTR) gene. The prognosis of cystic fibrosis has been transformed by the discovery of highly effective modulator therapies (HEMT). Treatment has changed from reactive therapy dealing with complications of the disease to pro-active correction of the underlying molecular functional abnormality. This has come about by discovering the detailed biology of the different CF molecular sub-endotypes; the development of biomarkers to assess response even in mild disease or young children; the performance of definitive large randomised controlled trials in patients with a common mutation and the development of in vitro testing systems to test efficacy in those patients with rare CFTR mutations...
November 19, 2023: Paediatric Respiratory Reviews
https://read.qxmd.com/read/37991126/the-significance-of-multidisciplinary-team-meetings-in-diagnosing-and-managing-childhood-interstitial-lung-disease-within-the-respirare-network
#16
JOURNAL ARTICLE
Julie Cassibba, Ralph Epaud, Laureline Berteloot, Sabrina Aberbache, Lauren Bitton, Camille Fletcher, Manon Fleury, Céline Delestrain, Harriet Corvol, Alix de Becdelièvre, Raphaël Borie, Marie Legendre, Aurore Coulomb l'Herminé, Camille Louvrier, Céline Lustremant, Meryem Sari Hassoun, Chiara Sileo, Alice Hadchouel, Nadia Nathan
INTRODUCTION: Childhood Interstitial Lung Disease (chILD) represents a rare and severe group of diseases for which the etiologic workup, classification, and management remain a challenge for most pediatric pulmonologists. In France in 2018, the RespiRare network established the first multidisciplinary team meetings (MDTm) dedicated to chILD. This study aims to investigate the impact of MDTm in chILD diagnosis and management as well as user satisfaction. METHODS: The MDTm took place on a monthly basis through video conferences...
November 22, 2023: Pediatric Pulmonology
https://read.qxmd.com/read/37948041/emerging-treatments-for-childhood-interstitial-lung-disease
#17
JOURNAL ARTICLE
Nicol Bernardinello, Matthias Griese, Raphaël Borie, Paolo Spagnolo
Childhood interstitial lung disease (chILD) is a large and heterogeneous group of disorders characterized by diffuse lung parenchymal markings on chest imaging and clinical signs such as dyspnea and hypoxemia from functional impairment. While some children already present in the neonatal period with interstitial lung disease (ILD), others develop ILD during their childhood and adolescence. A timely and accurate diagnosis is essential to gauge treatment and improve prognosis. Supportive care can reduce symptoms and positively influence patients' quality of life; however, there is no cure for many of the chILDs...
November 10, 2023: Paediatric Drugs
https://read.qxmd.com/read/37884945/case-report-jak1-2-inhibition-with-baricitinib-in-the-treatment-of-sting-associated-vasculopathy-with-onset-in-infancy
#18
JOURNAL ARTICLE
Jianqiang Wu, Qing Zhou, Hua Zhou, Meiping Lu
BACKGROUND: Gain-of-function mutations in STING1 (also known as TMEM173) which result in constitutive activation of STING, have been reported to cause STING-associated vasculopathy with onset in infancy (SAVI). Although a wider spectrum of associated manifestations and perturbations in disease onset have been observed since its description, the genotype-phenotype correlations are not definite, and there is no established treatment protocol for SAVI. CASE PRESENTATION: Herein, we report a kindred, heterozygous STING mutation (p...
October 26, 2023: Pediatric Rheumatology Online Journal
https://read.qxmd.com/read/37875631/childhood-interstitial-lung-disease-in-turkey-first-data-from-the-national-registry
#19
JOURNAL ARTICLE
Halime Nayır-Büyükşahin, Nagehan Emiralioğlu, Ayşe Ayzıt Kılınç, Saniye Girit, Ebru Yalçın, Tuğba Şişmanlar Eyüboğlu, Nazan Çobanoğlu, Güzin Cinel, Sevgi Pekcan, Yasemin Gökdemir, Berna Oğuz, Diclehan Orhan, Deniz Doğru, Uğur Özçelik, Azer Kılıç Başkan, Hüseyin Arslan, Haluk Çokuğraş, Zeynep Reyhan Onay, Sinem Can Oksay, Deniz Mavi Tortop, Ayşe Tana Aslan, Handan Kekeç, Fazılcan Zirek, Merve Nur Tekin, Figen Gülen, Bahar Girgin Dindar, Sanem Eryılmaz Polat, Salih Uytun, Aslı İmran Yılmaz, Gökçen Ünal, Ela Erdem Eralp, Bülent Karadağ, Melih Hangül, Mehmet Köse, Beste Özsezen, Erkan Çakır, Ayşen Bingöl, Mina Hızal, Gökçen Kartal Öztürk, Zeynep Seda Uyan, Tuğba Ramaslı Gürsoy, Mahir Serbes, Nural Kiper
The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated...
October 25, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37821196/copa-syndrome-from-diagnosis-to-treatment-a-clinician-s-guide
#20
REVIEW
Noa Simchoni, Tiphanie P Vogel, Anthony K Shum
COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many individuals also having arthritis and nephritis. Onset is usually in early childhood, with unique disease features including alveolar hemorrhage, which can be insidious, pulmonary cyst formation, and progressive pulmonary fibrosis in nonspecific interstitial pneumonia or lymphocytic interstitial pneumonia patterns. This review explores the clinical presentation, genetics, molecular mechanisms, organ manifestations, and treatment approaches for COPA syndrome, and presents a diagnostic framework of suggested indications for patient testing...
November 2023: Rheumatic Diseases Clinics of North America
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