A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

L Li, N Hamel, K Baker, MJ McGuffin… - Journal of medical …, 2015 - jmg.bmj.com
Background Inherited mutations in DNA mismatch repair genes predispose to different
cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a …

Proteomic profiling of hypoplastic lungs suggests an underlying inflammatory response in the pathogenesis of abnormal lung development in congenital …

R Wagner, P Lieckfeldt, H Piyadasa, M Markel… - Annals of …, 2023 - journals.lww.com
The pathogenesis of lung hypoplasia in congenital diaphragmatic hernia (CDH), a common
birth defect, is poorly understood. The diaphragmatic defect can be repaired surgically, but …

Prevalence of peripheral eosinophilia at diagnosis in children with inflammatory bowel disease

G Sadi, Q Yang, B Dufault, C Stefanovici… - Journal of Pediatric …, 2016 - journals.lww.com
Methods: A comprehensive chart review of all children with diagnosed as having IBD
between January 2006 and August 2014 was performed. Patients with PE at diagnosis were …

Establishment of a biobank for human lung tissues of congenital diaphragmatic hernia and congenital pulmonary airway malformation

R Wagner, L Ayoub, S Kahnamoui, H Li, D Patel… - Journal of Pediatric …, 2019 - Elsevier
Background Human tissue samples are an invaluable and little available source of
information for translational studies of congenital lung diseases such as Congenital …

Myxoinflammatory fibroblastic sarcoma in children and adolescents: clinicopathologic aspects of a rare neoplasm

VL Weiss, CR Antonescu, R Alaggio… - Pediatric and …, 2013 - journals.sagepub.com
Myxoinflammatory fibroblastic sarcoma (MIFS), originally described as a low-grade
malignant soft-tissue tumor in adults, has recently been reported in children and in non-acral …

Workload measurement in subspecialty placental pathology in Canada

JR Wright Jr, S Chan, EK Morgen… - Pediatric and …, 2022 - journals.sagepub.com
Background Workload measurement is important to help determine optimal staffing and
workload distribution for pathology laboratories. The Level 4 Equivalent (L4E) System is the …

Diagnosis of “fetal lung interstitial tumor” requires a FISH negative for trisomies 8 and 2

JP de Chadarévian, J Liu, D Pezanowski… - The American journal …, 2011 - journals.lww.com
In Response: There is a note of irony in the correspondence by de Chadarevian et al1 who
reported and illustrated the presence of trisomy 8 in a case of fetal lung interstitial tumor …

Aggressive metastatic inflammatory myofibroblastic tumor after allogeneic stem cell transplant with fatal pulmonary toxicity from crizotinib

H Shash, C Stefanovici, S Phillips… - Journal of Pediatric …, 2016 - journals.lww.com
Inflammatory myofibroblastic tumors (IMTs) are rare tumors with an intermediate spectrum of
biological behavior. IMTs are uncommon secondary malignancies after hematopoietic stem …

Detection of cytomegalovirus in colonic mucosa of children with inflammatory bowel disease: inflammatory bowel disease

W El-Matary, C Stefanovici… - Journal of Pediatric …, 2018 - journals.lww.com
Objectives: Although it has been recommended to perform sigmoidoscopy to screen for
cytomegalovirus (CMV) reactivation in acute severe colitis, the frequency of CMV …

[HTML][HTML] Primary intraosseous desmoplastic small round cell tumor of the calvarium: case report and review of the literature

V Khachaturov, RW Christopher, JR Hodge… - Human Pathology: Case …, 2015 - Elsevier
Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignancy typically
occurring intra-abdominally in young adolescent males. Rare extra-abdominal primaries …