Timothy J. Vece
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View article: Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome
Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome Open
Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskin…
View article: The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis
The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis Open
View article: Problematic online gaming. Is it real and does it matter to our teenagers?
Problematic online gaming. Is it real and does it matter to our teenagers? Open
Background: Video games and social media have become an ubiquitous part of our society. Video games have been associated with both positive and negative health consequences. There is a growing body of literature supporting the idea that us…
View article: Pulmonary surveillance in pediatric hematopoietic stem cell transplant: A multinational multidisciplinary survey
Pulmonary surveillance in pediatric hematopoietic stem cell transplant: A multinational multidisciplinary survey Open
Background Hematopoietic Stem Cell Transplant (HSCT) is an established treatment for malignant and non‐malignant conditions and pulmonary disease is a leading cause of late term morbidity and mortality. Accurate and early detection of pulm…
View article: Use of Intelligence Augmentation to Identify Patients with Primary Ciliary Dyskinesia
Use of Intelligence Augmentation to Identify Patients with Primary Ciliary Dyskinesia Open
View article: ATS Core Curriculum 2020. Pediatric Pulmonary Medicine
ATS Core Curriculum 2020. Pediatric Pulmonary Medicine Open
The American Thoracic Society Core Curriculum updates clinicians annually in adult and pediatric pulmonary disease, medical critical care, and sleep medicine, in a 3- to 4-year recurring cycle of topics. These topics will be presented at t…
View article: Childhood rare lung disease in the 21st century: “‐omics” technology advances accelerating discovery
Childhood rare lung disease in the 21st century: “‐omics” technology advances accelerating discovery Open
Childhood rare lung diseases comprise a large number of heterogeneous respiratory disorders that are individually rare but are collectively associated with substantial morbidity, mortality, and healthcare resource utilization. Although the…
View article: Double the Trouble: A Rare Case of Pediatric Pulmonary Renal Syndrome
Double the Trouble: A Rare Case of Pediatric Pulmonary Renal Syndrome Open
View article: Surveillance for Pulmonary Complications of Pediatric Hemopoetic Stem Cell Transplantation - An International Survey of Current Clinical Practices
Surveillance for Pulmonary Complications of Pediatric Hemopoetic Stem Cell Transplantation - An International Survey of Current Clinical Practices Open
View article: Continuous vancomycin in a pediatric cystic fibrosis patient
Continuous vancomycin in a pediatric cystic fibrosis patient Open
Continuous vancomycin has been previously reported to maximize antimicrobial activity while avoiding toxicities associated with dose escalation, but the efficacy of this dosing strategy has not been reported. This case report describes the…
View article: Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia
Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia Open
Background The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently des…
View article: Identifying Biomarkers in Pediatric Rare Lung Disease. chILD Grows Up
Identifying Biomarkers in Pediatric Rare Lung Disease. chILD Grows Up Open
chILD Grows UpChildren's interstitial and diffuse lung disease (chILD) has been recognized as distinct from adult interstitial lung diseases for nearly 2 decades after the first descriptions of disorders of surfactant metabolism and neuroe…
View article: Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease
Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease Open
Making chILD diagnoses on CT is poorly reproducible, even amongst sub-specialists. CT might best improve diagnostic confidence in a multidisciplinary team setting when augmented with clinical, functional and haematological results. …
View article: ATS Core Curriculum 2017: Part II. Pediatric Pulmonary Medicine
ATS Core Curriculum 2017: Part II. Pediatric Pulmonary Medicine Open
Keywords: asthma; childhood interstitial lung disease; bronchopulmonary dysplasia; pediatric pulmonary hypertension; pediatric rheumatology
View article: Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders Open
View article: Response
Response Open
View article: Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease Open
View article: Erratum to: A disorder of surfactant metabolism without identified genetic mutations
Erratum to: A disorder of surfactant metabolism without identified genetic mutations Open
Unfortunately, the original version of this article [1] contained an error. The name of one of the authors was included incorrectly and it read “Mara Cervasio” instead of “Mariarosaria Cervasio”.
The name has been updated in the origina…
View article: A disorder of surfactant metabolism without identified genetic mutations
A disorder of surfactant metabolism without identified genetic mutations Open
View article: Update on Diffuse Lung Disease in Children
Update on Diffuse Lung Disease in Children Open
View article: COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis Open