journal
https://read.qxmd.com/read/38817107/human-malformed-perinatal-anthropological-crania-contribute-to-new-insight-in-the-extension-of-bone-malformations-in-cranial-development
#1
JOURNAL ARTICLE
Inger Kjær, Amberley Marin, Ion Meyer
INTRODUCTION: We describe five abnormal crania which may provide more diagnostic data for assessment of abnormal crania in newborns. METHODS: Five malformed perinatal crania from the Saxtorphian Collection are described using published prenatal abnormal cranial development criteria. These malformations were compared to normal cranial development arising from the migration of neural crest cells. Visual and photographic investigations were performed. RESULTS: The malformed crania were occipital encephalocele, holoprosencephaly, anencephaly, and two without a recognizable diagnosis...
May 30, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38647426/congenital-gastric-teratoma-presenting-with-gastrointestinal-bleeding-case-report-and-review-of-literature
#2
JOURNAL ARTICLE
Khadiga M Ali, Gena Abdel-Azeem, Tarik Barakat, Sherine M Elzeiny, Mohammed Albishbishy, Ahmed Megahed
BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive...
April 22, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38634787/immunohistochemical-and-histopathological-characterization-of-spina-bifida-defect-tissues-removed-after-prenatal-and-postnatal-surgical-repair
#3
JOURNAL ARTICLE
James R Bardill, Melissa R Laughter, Jaclyn B Anderson, Hilary Hoffman, Ahmed Gilani, Maranke I Koster, Ahmed I Marwan
Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs...
April 18, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38587479/novel-autopsy-findings-in-premature-infant-with-beckwith-wiedemann-syndrome-uniparental-disomy-multifocal-developmental-dysplastic-chrondromatous-lesions-and-cortical-neuronal-heterotopias
#4
JOURNAL ARTICLE
Stephanie Collier, Ewa M Wasilewska, Randall Craver
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localized developmental dysplastic chondromatous lesions and cortical neuronal heterotopias have not previously been described. CASE PRESENTATION: A 33-week gestational age female had an omphalocele and intractable hypoglycemia at birth. The placenta demonstrated placental mesenchymal dysplasia...
April 8, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38587471/fibrocartilaginous-dysplasia-of-the-proximal-femur-in-two-pediatric-patients-including-a-pathologic-fracture-in-a-patient-with-mccune-albright-syndrome
#5
JOURNAL ARTICLE
Adam Haydel, Randall Craver, Matthew Cable
Fibrocartilaginous dysplasia (FCD) is a variant of fibrous dysplasia that often involves the proximal femur in young adults. It has a similar appearance on imaging as other entities but has stippled calcifications within the lesion. The differential diagnosis often includes benign and malignant tumors such as fibrous dysplasia, chondroblastoma, enchondroma, and chondrosarcoma. Histology is required for diagnosis and treatment is typically surgical due to the potential for pain, pathologic fracture, and deformity...
April 8, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38345066/cell-free-microbial-dna-utilization-at-a-children-s-hospital
#6
JOURNAL ARTICLE
Randall Craver, Stephanie Collier, Margot Anderson
Background: We investigated the utilization of cell free microbial DNA (cfDNA) at a Children's Hospital. Materials and Methods: cfDNA results were assessed regarding the contribution to therapeutic decisions. Results: Of 80 tests on 59 children, 1 test was unevaluable. At least one agent was identified in 45/79 (57%) tests from 34/59 (58.2%) children, 34/79 (43.0%) were negative in 31/59(52.5%) children. Of 45 positive results, 24/79 (30%) were contributory, 15/79 (19%) were diagnostic, 6/79 (7.6%) were diagnostic but diagnosis could have been made with other testing modalities, and 3/79 (3...
February 12, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38345043/primary-intraosseous-granular-cell-tumor-of-the-sphenoid-and-central-skull-base-in-a-pediatric-patient
#7
JOURNAL ARTICLE
Delaney Sheehan, Belinda Mantle, Ashley Kraft, Randall Craver, Christopher Arcement, Renee Gardner, Ellen Zakris, Daniel Nuss
BACKGROUND: Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl. CASE REPORT: A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base...
February 12, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38268442/the-effect-of-the-ganglionic-segment-inflammatory-response-to-postoperative-enterocolitis-in-hirschsprung-disease
#8
JOURNAL ARTICLE
Yalım Benibol, Ayşe Mine Önenerk Men, Ali Ekber Hakalmaz, Nil Çomunoğlu, Gonca Topuzlu Tekant, Rahşan Özcan
INTRODUCTION: We examined the relationship between proinflammatory cytokines that occur in the inflammatory reaction in the intestine in Hirschsprung disease (HD) and Hirschsprung-associated enterocolitis (HAEC). METHODS: Thirty cases (M:27, F:3) operated on due to HD. The cases were divided into three groups: group 1 with pre and post operative EC, group 2 with post-operative, and group 3 with pre-operative EC. The intestinal segments were evaluated by immunohistochemistry for interleukin 1 beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), and interleukin 6 (IL-6)...
January 25, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38213180/expression-and-clinical-significance-of-cd30-and-cd56-in-lymphoblastic-lymphoma-a-retrospective-analysis-on-paraffin-embedded-tissues-by-immunohistochemistry
#9
JOURNAL ARTICLE
Shuqi Li, Shuang Zheng, Xinyi Huang, Wenhui Zhang, Fang Liu, Qinghua Cao
Background: We evaluated CD30 and CD56 expression in lymphoblastic lymphoma (LBL) and correlated the results with clinicopathological features and prognosis. Methods: Immunohistochemical (IHC) staining was performed on 85 formalin-fixed paraffin-embedded LBL specimens using two CD30 clones and one CD56 antibody clone. Results: Weak and diffuse expression of CD30 was expressed in 4.7% (clone Ber-H2) or 14.1% (clone EPR4102) in LBL, while CD56 was expressed in 24.7%. CD30 and CD56 expression correlated with lactate dehydrogenase levels...
January 11, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38189115/comparison-of-afamin-values-in-umbilical-cord-blood-after-delivery-in-pregnancies-with-and-without-gestational-diabetes-mellitus
#10
JOURNAL ARTICLE
Yasemin Dogan, Oguz Arslan, Berrin Oztas, Aylin Kurtali, Ayse Seda Daryal, Müzeyyen Dilsad Eser
OBJECTIVE: Afamin is a protein that increases in gestational diabetes but its concentration in neonates hasn't been investigated. Our objective is to compare cord blood afamin levels in neonates born to mothers with and without diabetes, and to explore its relationship with maternal and neonatal variables. METHODS: In this case control study, umbilical cord blood was collected for afamin measurement in pregestational/gestational diabetic pregnancies ( n  = 40) and healthy pregnancies ( n  = 45) after delivery...
January 8, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38186349/prenatal-diagnosis-of-crossed-pulmonary-arteries-with-a-postnatal-diagnosis-of-charge-syndrome
#11
JOURNAL ARTICLE
Funda Oztunc, Riza Madazli, Hakan Erenel, Didem Kaymak, Serpil Eraslan, Hulya Kayserili
Introduction : Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis...
January 8, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38186330/autopsy-based-growth-charts-may-under-detect-fetal-growth-restriction-at-autopsy
#12
JOURNAL ARTICLE
Min Jung Kim, Jennifer A Hutcheon, Anna F Lee, Jessica Liauw
Background: Accurate identification of fetal growth restriction in fetal autopsy is critical for assessing causes of death. We examined the impact of using a chart derived from ultrasound measurements of healthy fetuses (World Health Organization fetal growth chart) versus a chart commonly used by pathologists (Archie et al.) derived from fetal autopsy-based populations in diagnosing small-for-gestational-age (SGA) birth in perinatal deaths. Study Design: We examined perinatal deaths that underwent autopsy at BC Women's Hospital, 2015-2021...
January 8, 2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38743580/mthfr-677-c%C3%A2-%C3%A2-t-gene-polymorphism-is-associated-with-large-for-gestational-age-infants
#13
JOURNAL ARTICLE
Raziye Akcılar, Emine Esin Yalınbaş, Fezan Mutlu
BACKGROUND: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA). METHODS: The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP. RESULTS: There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38268438/neonatal-dermatopathology-a-10-year-institutional-review
#14
REVIEW
Allie Preston, Cynthia Lee, Martin Fernandez, Sophia Hendrick
BACKGROUND/OBJECTIVE: Neonatal skin conditions are typically diagnosed through noninvasive methods. Few studies describe the spectrum of biopsy- evaluated neonatal skin lesions. We present our institutional experience with the conditions leading to skin biopsies in neonates. The objective is to describe the conditions for which skin biopsies are performed in neonatal patients. METHODS: There were 20 neonatal skin biopsies over a 10-year period from the hospital's delivery unit, NICU, and pediatric hospital...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38217324/differentiation-potential-of-hypodifferentiated-subsets-of-nephrogenic-rests-and-its-relationship-to-prognosis-in-wilms-tumor
#15
JOURNAL ARTICLE
Maolin Liu, Jiandong Lu, Chengjun Yu, Jie Zhao, Ling Wang, Yang Hu, Long Chen, Rong Han, Yan Liu, Miao Sun, Guanghui Wei, Shengde Wu
Background Wilms tumor (WT) is highly curable, although anaplastic histology or relapse imparts a worse prognosis. Nephrogenic rests (NR) associated with a high risk of developing WT are abnormally retained embryonic kidney precursor cells. Methods After pseudo-time analysis using single-cell RNA sequencing (scRNA-seq) data, we generated and validated a WT differentiation-related gene (WTDRG) signature to predict overall survival (OS) in children with a poor OS. Results A differentiation trajectory from NR to WT was identified and showed that hypodifferentiated subsets of NR could differentiate into WT...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38204144/congenital-ichthyosis-current-approaches-to-prenatal-diagnoses
#16
REVIEW
Manahel Mahmood Alsabbagh
INTRODUCTION: Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. METHODS: We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing. RESULTS: Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests. DISCUSSION: Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38200700/standardizing-minimally-invasive-tissue-sampling-of-postmortem-brain-using-bard-monopty-needle-in-newborns-with-neurological-injury
#17
JOURNAL ARTICLE
Athira Sreenivas, Leslie Lewis, Jayashree Purkayastha, Vani Lakshmi R, Mary Mathew
INTRODUCTION: Minimally invasive tissue sampling of the brain in newborns using the Bard Monopty needle helps to diagnose various neurological conditions by obtaining relevant brain cores. We designed a modified procedure to provide maximum diagnostic utility in brain tissue biopsies. METHOD: Twenty newborns underwent postmortem minimally invasive tissue sampling of the brain through the anterior fontanelle and posterior approach, using the engraved lines on the needle labeled from mark 0 to 13...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/38006393/magnitude-and-determinants-of-intestinal-parasites-among-children-under-five-in-ethiopia-during-2010-2023-a-systematic-review-and-meta-analysis
#18
REVIEW
Abayeneh Girma, Amere Genet
Background : Intestinal parasitic infection (IPI) poses a serious public health threat across the globe, particularly in children in low- and middle-income countries like Ethiopia. This study was to provide pooled estimates for the individually available data on IPI and its predictors among children under five in Ethiopia. Methods : Cochrane's Q , I 2 , sensitivity analysis, funnel plot, Begg's, and Egger's regression tests were used to check heterogeneity and publication bias. A random-effects model was used to calculate the pooled burden of IPI among children under five...
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/37861408/letter-regarding-clinicopathological-analysis-of-sturge-weber-syndrome-with-focal-cortical-dysplasia-fcd-iiic
#19
JOURNAL ARTICLE
Törehan Özer, Yonca Anik
No abstract text is available yet for this article.
2024: Fetal and Pediatric Pathology
https://read.qxmd.com/read/37800446/ectopic-salivary-glands-a-differential-diagnosis-to-a-thyroglossal-duct-cyst
#20
JOURNAL ARTICLE
Thomas Menter, Stefan Holland-Cunz
Background : Midline developmental neck lesions primarily consist of thyroglossal duct remnants. Their recurrence is uncommon following thorough resection, which includes hyoid removal (the Sistrunk procedure). Case report : A 3-year-old girl presented with mucoid secretion drainage and swelling in the anterior mid-neck region, clinically resembling a thyroglossal duct remnant. Following an initial Sistrunk procedure, the lesion recurred, prompting a subsequent resection. Histological analysis revealed a mucocele alongside acinar and mucous ectopic salivary glands...
2024: Fetal and Pediatric Pathology
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