Cargando…

A disorder of surfactant metabolism without identified genetic mutations

BACKGROUND: Surfactant metabolism disorders may result in diffuse lung disease in children. CASE PRESENTATION: We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in ge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Montella, Silvia, Vece, Timothy J., Langston, Claire, Carrera, Paola, Nogee, Lawrence M., Hamvas, Aaron, Manna, Angelo, Cervasio, Mara, Santamaria, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658764/ https://www.ncbi.nlm.nih.gov/pubmed/26606984 http://dx.doi.org/10.1186/s13052-015-0198-3

Ejemplares similares

Erratum to: A disorder of surfactant metabolism without identified genetic mutations
por: Montella, Silvia, et al.
Publicado: (2015)

Genetic Abnormalities of Surfactant Metabolism
por: Nogee, Lawrence M., et al.
Publicado: (2010)

Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation
por: Jiramethee, Norlalak, et al.
Publicado: (2017)

An intronic ABCA3 mutation responsible for respiratory disease
por: Agrawal, Amit, et al.
Publicado: (2012)

Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study
por: Maglione, Marco, et al.
Publicado: (2017)

Update on leukotriene receptor antagonists in preschool children wheezing disorders
por: Montella, Silvia, et al.
Publicado: (2012)

Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenation
por: Janssen, Daphne J., et al.
Publicado: (2009)

Clinical application of exhaled nitric oxide measurement in pediatric lung diseases
por: Manna, Angelo, et al.
Publicado: (2012)

Developmental and Genetic Regulation of Human Surfactant Protein B in vivo
por: Hamvas, Aaron, et al.
Publicado: (2009)

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
por: Somaschini, Marco, et al.
Publicado: (2017)

Identifying Biomarkers in Pediatric Rare Lung Disease. chILD Grows Up
por: Vece, Timothy J., et al.
Publicado: (2019)

Genetic testing for rare pediatric lung disorders: The promise and the pitfalls
por: Nogee, Lawrence M.
Publicado: (2020)

Pediatric severe asthma: a case series report and perspectives on anti-IgE treatment
por: Mirra, Virginia, et al.
Publicado: (2018)

Recurrent Pneumonia in Children: A Reasoned Diagnostic Approach and a Single Centre Experience
por: Montella, Silvia, et al.
Publicado: (2017)

Laser ablation of liver tumors: An ancillary technique, or an alternative to radiofrequency and microwave?
por: Sartori, Sergio, et al.
Publicado: (2017)

A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia
por: Wambach, Jennifer A., et al.
Publicado: (2019)

Genetic Testing for Neonatal Respiratory Disease
por: Nogee, Lawrence M., et al.
Publicado: (2021)

Rare to “Ubiquitinous”: Alveolar Capillary Dysplasia, FOXF1, and a Sly Approach to Angiogenesis
por: Cornfield, David N., et al.
Publicado: (2023)

A lung tropic AAV vector improves survival in a mouse model of surfactant B deficiency
por: Kang, Martin H., et al.
Publicado: (2020)

Liver-directed therapies for liver metastases from neuroendocrine neoplasms: Can laser ablation play any role?
por: Sartori, Sergio, et al.
Publicado: (2020)

Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings
por: Montella, Silvia, et al.
Publicado: (2009)

First Steps toward Personalized Therapies for ABCA3 Deficiency
por: Wambach, Jennifer A., et al.
Publicado: (2022)

Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology
por: Caffarelli, Carlo, et al.
Publicado: (2017)

Respiratory manifestations in patients with inherited metabolic diseases
por: Santamaria, Francesca, et al.
Publicado: (2013)

Surfactant
por: Soll, Roger F., et al.
Publicado: (2013)

Quality assessment and response to less invasive surfactant administration (LISA) without sedation
por: de Kort, Ellen, et al.
Publicado: (2019)

Physicochemical properties, cytotoxicity and penetration into dentinal tubules of sodium hypochlorite with and without surfactants
por: Coaguila-Llerena, Hernán, et al.
Publicado: (2020)

Colloidal InAs Tetrapods: Impact of Surfactants on the Shape Control
por: Liu, Zheming, et al.
Publicado: (2023)

Micro-structural investigations on oppositely charged mixed surfactant gels with potential dermal applications
por: Barai, Manas, et al.
Publicado: (2021)

Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress
por: Tarocco, Anna, et al.
Publicado: (2015)

Human amniotic membrane as newly identified source of amniotic fluid pulmonary surfactant
por: Lemke, Angela, et al.
Publicado: (2017)

Development and Evaluation of Surfactant Nanocapsules for Chemical Enhanced Oil Recovery (EOR) Applications
por: Cortés, Farid B., et al.
Publicado: (2018)

Acinic Cell Carcinoma of the Breast Arising in Microglandular Adenosis
por: Falleti, Jessica, et al.
Publicado: (2013)

Lung surfactant.
por: Rooney, S A
Publicado: (1984)

Covid-19 and the N95 respirator shortage: Closing the gap
por: Nogee, Daniel, et al.
Publicado: (2020)

Surfactant replacement therapy in combination with different non-invasive ventilation techniques in spontaneously-breathing, surfactant-depleted adult rabbits
por: Ricci, Francesca, et al.
Publicado: (2018)

Congenital Lung Malformations: Unresolved Issues and Unanswered Questions
por: Annunziata, Federica, et al.
Publicado: (2019)

Corrigendum to “Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress”
por: Tarocco, Anna, et al.
Publicado: (2015)

Formulation and Optimization of Nanoemulsions Using the Natural Surfactant Saponin from Quillaja Bark
por: Schreiner, Tatiana B., et al.
Publicado: (2020)

Smoking reduces surfactant protein D and phospholipids in patients with and without chronic obstructive pulmonary disease
por: Moré, Jayaji M, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_olk67jk4m7u2rcimcu9me870nr