A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
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 …
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 …
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 …
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 …
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
Background Human tissue samples are an invaluable and little available source of
information for translational studies of congenital lung diseases such as Congenital …
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 …
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 …
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 …
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 …
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 …
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 …
occurring intra-abdominally in young adolescent males. Rare extra-abdominal primaries …