ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease
Conclusion: Our work expanded the ATP7B variant spectrum and pointed to clinical heterogeneity in ATP7B variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.PMID:37737146 | DOI:10.1080/15513815.2023.2260005 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - September 22, 2023 Category: Pathology Authors: Orhan Gorukmez Taner Özgür Ozlem Gorukmez Ali Topak Source Type: research
The Frontal Phocomelia in a 3-Year-Old Girl
Conclusion: Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.PMID:37715664 | DOI:10.1080/15513815.2023.2258417 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - September 16, 2023 Category: Pathology Authors: Martina Vidov á Uğurbaş Ren é Hako Milo š Kňazovický Source Type: research
Placental Syphilis: A Comprehensive Review of Routine Histomorphology, HIV Co-infection, Penicillin Treatment, Immunohistochemistry, and Polymerase Chain Reaction
Conclusion: Villitis, chorioamnionitis, and villous immaturity were identified as the predominant placental abnormalities. HIV co-infection and penicillin treatment can impact morphology and hamper the diagnosis. IHC and q-PCR are valuable adjuncts when serology is negative.PMID:37668986 | DOI:10.1080/15513815.2023.2253309 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - September 5, 2023 Category: Pathology Authors: Yolandi Anne Marais Deidr é Mason Annelize Barnard Chestley Rashaell Saaiman Hester Christine Els Judith Kluge Allison Joy Glass Colleen Anne Wright Pawel Tomasz Schubert Source Type: research
