Results 1 to 10 of about 228,263 (297)

Bronchodilator responsiveness and dysanapsis in bronchopulmonary dysplasia

ERJ Open Research, 2022
Background The incidence of bronchopulmonary dysplasia (BPD) following preterm birth is increasing. Bronchodilators are often used to treat patients with BPD with little evidence to guide therapy.
Leif D. Nelin, Matthew J. Kielt, Maria Jebbia, Sudarshan Jadcherla, Edward G. Shepherd   +4 more
doaj   +1 more source

Tracheostomy in Severe Bronchopulmonary Dysplasia—How to Decide in the Absence of Evidence

Biomedicines, 2023
Infants with the most severe forms of bronchopulmonary dysplasia (BPD) may require long-term invasive positive pressure ventilation for survival, therefore necessitating tracheostomy.
Audrey N. Miller, Edward G. Shepherd, Amy Manning, Humra Shamim, Tendy Chiang, George El-Ferzli, Leif D. Nelin   +6 more
doaj   +1 more source

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Frontiers in Genetics, 2023
Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants
Francisca Diaz-Gonzalez, Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Manuel Parrón-Pajares, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Karen E. Heath, Karen E. Heath, Karen E. Heath   +15 more
doaj   +1 more source

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Orphanet Journal of Rare Diseases, 2021
Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT).
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober   +8 more
doaj   +1 more source

Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

Frontiers in Pediatrics, 2023
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare condition. The diagnosis could be challenging due to its rarity and non-specific presenting symptoms.
Joshua Chun Ki Chan, Evelyn Eugenie Kuong, Evelyn Eugenie Kuong, Joyce Pui Kwan Chan, Joyce Pui Kwan Chan, Ho Ming Luk, Jasmine Lee Fong Fung, Joanna Yuet-ling Tung, Joanna Yuet-ling Tung, Brian Hon Yin Chung, Brian Hon Yin Chung   +10 more
doaj   +1 more source

Achondroplasia: a comprehensive clinical review

Orphanet Journal of Rare Diseases, 2019
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the ...
Richard M. Pauli
doaj   +1 more source

Dysplasia Surveillance in Inflammatory Bowel Disease: A Cohort Study

GE: Portuguese Journal of Gastroenterology, 2020
Introduction: Patients with colonic inflammatory bowel disease (IBD) are at an increased risk for colorectal cancer (CRC), whereby surveillance colonoscopy is recommended.
Sofia Saraiva, Isadora Rosa, Joana Moleiro, João Pereira da Silva, Ricardo Fonseca, António Dias Pereira   +5 more
doaj   +1 more source

Are we Missing Barrett's Esophagus in Our Busy Endoscopy Practice? Improving Detection

Journal of Digestive Endoscopy, 2022
Barrett's esophagus (BE) denotes the replacement of stratified squamous epithelium of esophagus by columnar epithelium. It is associated with a significantly increased risk of esophageal adenocarcinoma and hence patients with BE are advised endoscopic ...
Amit Kumar Dutta
doaj   +1 more source

Risk Factors Analysis and Prediction Model Establishment of Intestinal Metaplasia or Dysplasia in Patients With Chronic Atrophic Gastritis: A Multi-Center Retrospective Study

Frontiers in Medicine, 2022
ObjectiveTo investigate the risk factors and construct a prediction model of chronic atrophic gastritis (CAG) patients with intestinal metaplasia or dysplasia.MethodThe clinical data of 450 patients with CAG who were diagnosed and treated in the ...
Bei Pei, Ziang Wen, Qi Yang, Jieyu Wang, Qinglin Cao, Longfei Dai, Xuejun Li   +6 more
doaj   +1 more source

Neuroendocrine cell hyperplasia of infancy (review of modern literature — 2018)

Zdorovʹe Rebenka, 2018
The review deals with the systematization of mo­dern world ideas about pulmonary neuroendocrine cells and a disease associated with their hyperplasia — neuroendocrine hyperplasia in infants. The pathogenesis, clinical and instrumental diagnostic criteria
O.L. Logvinova
doaj   +1 more source