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Article
Open AccessAn intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 month...
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Article
Prostatic metaplasia of the vagina in transmasculine individuals
To determine the prevalence of prostatic metaplasia in an expanded cohort of transmasculine individuals undergoing gender-affirming resection of vaginal tissue.
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Article
Open AccessA serous borderline ovarian tumour in a transgender male adolescent
Here we present a transgender male adolescent with an androgen receptor-positive serous borderline ovarian tumour in the setting of testosterone treatment for medical gender transition. To our knowledge, this ...
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Article
Open AccessCFTR regulates B cell activation and lymphoid follicle development
Cystic fibrosis (CF) is an inherited disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that promotes persistent lung infection and inflammation and progressive loss of lung...
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Article
Open AccessGlobal and local selection acting on the pathogen Stenotrophomonas maltophilia in the human lung
Bacterial populations diversify during infection into distinct subpopulations that coexist within the human body. Yet, it is unknown to what extent subpopulations adapt to location-specific selective pressures...
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Article
Imaging findings in children with proliferative disorders following multivisceral transplantation
Multivisceral transplantation represents an important treatment option for children with intestinal failure. The attendant immunosuppression can lead to a spectrum of cellular proliferations including benign a...
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Article
Open AccessEnthesitis as a component of dactylitis in psoriatic juvenile idiopathic arthritis: histology of an established clinical entity
Imaging of dactylitis in adult psoriatic arthritis suggests a pathophysiological role for enthesitis. However, histological definition of the dactylitic digit is unavailable.
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Article
Anaplastic large cell lymphoma of the esophagus in a pediatric patient
We report a 3-year-old boy who initially presented with abdominal pain and was subsequently found to have an esophageal perforation. The child did not respond to conservative management, and subsequent lymphad...
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Article
Postmortem cardiac troponin-I levels predict intramyocardial damage at autopsy
Serum cardiac troponin levels are now widely used in the diagnosis of myocardial infarct (MI) and injury in living patients, but their utility in postmortem diagnosis has not been established. We evaluated pos...
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Article
Mucoepidermoid carcinoma of bronchus in a pediatric patient: 18F-FDG PET findings
In children, primary neoplasms of the tracheobronchial tree and lungs are rare; most are malignant. Of the primary malignant pulmonary neoplasms arising in childhood, mucoepidermoid carcinoma accounts for appr...
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Article
Myongenic Markers in the Evaluation of Embryonal Botryoid Rhabdomyosarcoma of the Female Genital Tract
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Article
Myogenic Markers in the Evaluation of Embryonal Botryoid Rhabdomyosarcoma of the Female Genital Tract
Rhabdomyosarcoma presents special diagnostic problems when it involves the uterine cervix in young children because tumor cells may lack marked atypia and may blend with the normal, immature, condensed, cellul...
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Article
Myogenic Markers in the Evaluation of Embryonal Botryoid Rhabdomyosarcoma of the Female Genital Tract
Rhabdomyosarcoma presents special diagnostic problems when it involves the uterine cervix in young children because tumor cells may lack marked atypia and may blend with the normal, immature, condensed, cellul...
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Article
Ectopic Prostate Tissue Within the Processus Vaginalis: Insights into Prostate Embryogenesis
We report an 11-year-old boy who presented with a scrotal mass superior to the epididymis in the processus vaginalis. The mass consisted of prostate tissue, including glands and fibromuscular stroma, communica...
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Article
Pathology of Human Metapneumovirus Infection: Insights into the Pathogenesis of a Newly Identified Respiratory Virus
Human metapneumovirus (hMPV) is a recently discovered human virus that causes significant respiratory infections. Pathologic features of hMPV infection have not been described. A total of 1257 pediatric respir...
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Article
Unilateral Transverse Arm Defect with Subterminal Digital Nubbins
We present a case of unilateral terminal transverse forearm deficiency with subterminal digit-like nubbins, identified in a fetus from a pregnancy terminated electively in the second trimester because the dist...
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Article
Gains of Chromosome 8 in Pleuropulmonary Blastomas of Childhood (Reply)
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Gains of Chromosome 8 Are Confined to Mesenchymal Components in Pleuropulmonary Blastoma
Pleuropulmonary blastoma, an aggressive tumor that is emerging as a distinct entity of childhood, is characterized by mesenchymal elements (including undifferentiated blastema and often cartilaginous, rhabdomy...
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Article
Hematogones as an Internal Control in Flow Cytometric Analysis of Suspected Acute Lymphoblastic Leukemia
Hematogones are benign immature B cells that commonly populate the bone marrow of children. Their presence has been noted to interfere with the flow-cytometric analysis of cases of suspected acute lymphoblast...
