The placenta is vital to maternal and child health but often overlooked in pregnancy studies. Addressing the need for a more accessible and cost-effective method of placental assessment, our study introduces a computational tool designed for the analysis of placental photographs. Leveraging images and pathology reports collected from sites in the United States and Uganda over a 12-year period, we developed a cross-modal contrastive learning algorithm consisting of pre-alignment, distillation, and retrieval modules.
View Article and Find Full Text PDFA 15q11.2 (BP1-BP2) deletion was detected in a 4-day-old boy who had hypoplastic left heart syndrome (HLHS) diagnosed prenatally by echocardiography. Postmortem examination revealed an anomalous origin of the right coronary artery from the pulmonary trunk (ARCAPT).
View Article and Find Full Text PDFTo maintain its development, the growing fetus is directly dependent on the placenta, an organ that acts as both a modulator and mediator. As an essential component of pregnancy that is derived from both maternal and fetal tissues, the placenta facilitates the passage of all oxygen and nutrients from the expecting parent to their fetuses. Further, the placenta conveys multiple impacts of the maternal environment to the growing fetus.
View Article and Find Full Text PDFBackground: Calmodulinopathies are rare inherited arrhythmia syndromes caused by dominant heterozygous variants in , , or , which each encode the identical CaM (calmodulin) protein. We hypothesized that antisense oligonucleotide (ASO)-mediated depletion of an affected calmodulin gene would ameliorate disease manifestations, whereas the other 2 calmodulin genes would preserve CaM level and function.
Methods: We tested this hypothesis using human induced pluripotent stem cell-derived cardiomyocyte and mouse models of pathogenic variants.
We aimed to share the post-workshop survey results of a pediatric pathology course held in Jakarta, Indonesia. Questionnaires were distributed to participants; responses from practicing pathologists and pathologists-in-training were analyzed. Results: The respondents (107 pathologists of 143 attendees) were predominantly female (83.
View Article and Find Full Text PDFEbstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium.
View Article and Find Full Text PDFThis paper illustrates a valve-sparing cardiac dissection technique that keeps the atrioventricular and semilunar valves and other important cardiac structures intact. The technique minimizes disruption in heart specimens, so they remain suitable for teaching, demonstration, and further research. When performed following the perfusion-distension method of fixation, as our group previously described, this technique could optimize the preservation of heart specimens for teaching and digital archiving postdissection.
View Article and Find Full Text PDFBackground: As more pediatric patients become candidates for heart transplantation (HT), understanding pathological predictors of outcome and the accuracy of the pretransplantation evaluation are important to optimize utilization of scarce donor organs and improve outcomes. The authors aimed to investigate explanted heart specimens to identify pathologic predictors that may affect cardiac allograft survival after HT.
Methods: Explanted pediatric hearts obtained over an 11-year period were analyzed to understand the patient demographics, indications for transplant, and the clinical-pathological factors.
Background: Neo-aortic root dilatation can lead to significant late morbidity after the arterial switch operation (ASO) for dextro-transposition of the great arteries (d-TGA).
Objectives: We sought to examine the growth of the neo-aortic root in d-TGA.
Methods: A single-center, retrospective cohort study of patients who underwent the ASO between July 1, 1981 and September 30, 2022 was performed.
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings, facial photographs, and test results across this original cohort. Four additional cases with similar findings were contributed by clinicians from outside institutions, bringing the number of reported cases to 10 and supporting the existence of this novel syndrome.
View Article and Find Full Text PDFObjective: To elucidate particular placental pathology findings that are associated with hypoxic ischemic encephalopathy (HIE) and determine which patterns are associated with adverse fetal/neonatal outcomes.
Study Design: Multi-institutional retrospective case-control study of newborns with HIE (2002-2022) and controls. Four perinatal pathologists performed gross and histologic evaluation of placentas of cases and controls.
Patients with congenital heart disease associated with a higher risk for ventricular arrhythmias (VA) and sudden cardiac death (SCD) can be divided conceptually into those with discrete mechanisms for reentrant monomorphic ventricular tachycardia (VT) (Group A) and those with more diffuse substrates (Group B). Part I of this review addresses Group A lesions, which predominantly consist of tetralogy of Fallot and related variants. Well-defined anatomic isthmuses for reentrant monomorphic VT are interposed between surgical scars and the pulmonary or tricuspid annulus.
View Article and Find Full Text PDFBackground: Ventricular pacing can cause myocardial dysfunction, but how lead anchoring to the myocardium affects function has not been studied.
Objective: The purpose of this study was to evaluate patterns of regional and global ventricular function in patients with a ventricular lead using cine cardiac computed tomography (CCT) and histology.
Methods: This was a single-center retrospective study with 2 groups of patients with a ventricular lead: (1) those who underwent cine CCT from September 2020 to June 2021 and (2) those whose cardiac specimen was analyzed histologically.
STK11 adnexal tumor is a recently described entity with less than 25 cases reported to date. These aggressive tumors typically occur in paratubal/paraovarian soft tissues, have characteristically striking morphologic and immunohistochemical heterogeneity, and harbor pathognomonic alterations in . These occur almost exclusively in adult patients, with only one reported in a pediatric patient (to our knowledge).
View Article and Find Full Text PDFIntroduction: Maternal vascular malperfusion (MVM) is one of four main patterns of placental injury defined by the Amsterdam consensus statement and is associated with adverse fetal and maternal outcomes. Laminar decidual necrosis (DLN), extravillous trophoblast islands (ETIs), placental septa (PS), and basal plate multinucleate implantation-type trophoblasts (MNTs) are lesions attributed to decidual hypoxia, excess trophoblast, and shallow implantation, but are not included in the current MVM diagnostic criteria. We aimed to investigate the relationship between these lesions and MVM.
View Article and Find Full Text PDFFormalin-fixed whole heart specimens are essential for studying the anatomy of congenital heart defects. Because of the improvement in diagnostic imaging and treatment, and cultural transition, heart specimens with congenital heart defects have become more and more rare and irreplaceable but are at risk of accidental deterioration through dehydration during long-term storage. In this article, we share our experience in reconditioning our inadvertently dehydrated heart specimens using a simple Formol-Glycerol solution that allowed for rehydration and recovery of such specimens.
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