Background:BCOR mutations occur in about 5% in pediatric rhabdomyosarcoma (RMS), their clinical significance and mechanistic roles remain undefined. This study characterizes BCOR-mutant RMS as a molecularly distinct, high-risk subgroup. Methods: Multimodal analysis of four pediatric embryonal RMS cases with BCOR mutations, integrating histopathology, immunohistochemistry, genomic profiling, and clinical outcomes. Results: All patients (ages 1.9-11 years) presented with stage IV fusion-negative ERMS. Histology ranged from conventional (Cases 1,2,4) to undifferentiated (Case 3). IHC revealed: Universal MyoD1 nuclear positivity (70-95%), variable myogenin (5-50%). BCOR protein status potentially related to mutation VAF (15.1-96.16%): aberrant cytoplasmic staining with loss of nuclear expression in frameshift mutants (Case 3) vs. partial retention or completely loss in missense mutants (Cases 1,2,4). Molecular profiling identified recurrent co-alterations (TP53, MDM2/MYC). Despite multimodal therapy, all patients progressed (median EFS 16.5 months), with poorest outcomes in older children (Cases 1,3,4). Conclusions: BCOR mutations may define an aggressive RMS subtype in pediatric group.

Background/objectives: To report the complete neuropathologic description of an infant with terminal deletion q31-q35 of chromosome 4 (4q- syndrome), because much published work has been devoted to the genetics of 4q- syndrome and almost nothing to its neuropathology. Most patients with 4q31-4q35 deletion have suggestive phenotypic features and moderate to severe developmental and language delay; rare patients with autistic behavior and facioscapulohumeral muscular dystrophy have been associated with small deletions limited to 4q31 and 4q35, respectively. Materials and methods: Clinically, the patient reported here had severe hypotonia, poor respiratory and feeding autonomy, and undescribed drug-resistant seizures from the first days of life until death at one year of age. A comprehensive neuropathologic examination of the brain was completed with a late muscle biopsy. Results and conclusions: The callosal dysgenesis, paucity of cortical neurons and subependymal germ cells, cerebral and cerebellar neuronal heterotopies, and suggestive muscular findings in this new patient may broaden the understanding of the clinical features.

Introduction: Preterm birth is a leading international health issue with morbidity and mortality risks. Premature infants frequently present with congenital anomalies or perinatal asphyxia, both of which contribute to prolonged hospitalization and greater need for respiratory support. This research investigates the effects of birth defects or asphyxia among premature infants on survival and recovery. Methods: This retrospective cohort study was carried out in an NICU in Mecca, Saudi Arabia. We examined 120 medical records of premature infants diagnosed with birth defects or birth asphyxia to determine outcomes like mortality, morbidity, ventilation days, and the unit in which they stayed. Results: Infants with birth asphyxia had a lower mortality rate (13.2%) as opposed to birth defects (37.8%). The rate of improvement of infants with asphyxia (81.6%) was higher than that of infants with birth defects (58.5%). Infants who had birth defects needed more ventilation hospitalization compared to infants with birth asphyxia. The rates of blood count and ventilation failure were also higher in the birth defects group. Discussion: Birth defects exacerbate levels of mortality, length of hospital stay, and complications in preterm infants as opposed to asphyxiation during birth. Conclusion: Birth defects and birth asphyxia play an important role in the outcome of premature babies. Improved survival and fewer complications are linked to early recognition and individualized care.

Introduction Congenital diaphragmatic hernia (CDH) lungs are characterized by pulmonary hypertension and lung hypoplasia. We have used single cell RNA sequencing (scRNA-seq) to show that mesenchyme is perturbed in CDH, leading to disrupted epithelial-mesenchymal transition (EMT) dynamics and inflammatory signaling. Methods Normal and CDH fetal rat lungs were harvested at E17, E19 and E21 – which correlate to pseudoglandular, canalicular, and saccular stages, respectively - and dissociated into single cell suspension. Seurat was used for single cell analysis. Cell types were identified by canonical genes and differential expression of genes were then analyzed. Findings were confirmed by staining. Score for mesenchymal versus epithelial-like characteristics in EMT was calculated. Results During normal development, mesenchymal progenitors surround the developing airway undergoing EMT. At E17 in CDH, these cells downregulate Sox9, a plasticity marker, and upregulate extracellular matrix (ECM) proteins and TGFβ signaling molecules. CDH mesenchymal progenitors have an increased EMT score (p < 0.001), meaning more mesenchymal characteristics compared to normal lung. At E21, CDH mesenchyme upregulates TGFβ-2, TGFβR-2, and Smad2/3. CDH alveolar type 1 (AT1) and AT2 cells upregulate Krt8 and Krt18. Discussion CDH lung mesenchymal progenitors attain mesenchymal-like characteristics prematurely and there is upregulation of ECM proteins when compared to normal lung. Moreover, CDH distal epithelial cells (Krt8/18+) enter a transitional state that is seen in fibrotic lung diseases. These findings represent imbalance of EMT, and thus dysregulation of key molecular pathways, which leads to poorly developed mesenchymal and epithelial structures that we speculate causes the lung hypoplasia found in CDH.

Background Fetus in fetu (FIF) is a rare congenital anomaly in which a malformed parasitic twin is enclosed within its host, usually in the retroperitoneum. Oral presentation is extremely rare, with few cases described. Differentiation from teratomas, particularly epignathus, is challenging but crucial for prognosis and management. Case presentation An 18-year-old gravida 3, para 2 was referred at 26 weeks for suspected epignathus. Ultrasound showed a large oropharyngeal mass, polyhydramnios, omphalocele, diaphragmatic hernia, and cardiac anomalies. Fetal demise occurred at 32 weeks. Postmortem examination revealed a second head-like mass with skin, cranial bones, facial features, and cerebral tissue. Histopathology confirmed highly organized fetiform mass consistent with FIF despite absence of vertebral axis. Conclusion This is a rare case of oral FIF entirely comprising a second head and associated with major host anomalies. Awareness of this entity is essential for accurate diagnosis and perinatal planning when airway compromise is anticipated.

Background Melanocytes and Schwann cells share a neural crest origin. Giant congenital melanocytic nevi (CMN) are linked to neurocutaneous melanocytosis (NCM), melanoma risk, and CNS anomalies. We report a case of giant CMN with a holocord intradural nerve sheath tumor. Case Presentation A 19-month-old male with CMN presented for spinal mass treatment. History included recurrent pulmonary infections, severe neurological impairment, and developmental delay. Spinal MRI revealed an intradural-intramedullary mass extending from C5 to L1 (up to 2 cm thick), compressing nerve roots. Partial resection was performed, though the thoracic portion adhered irreversibly to the cord and roots. Pathology identified a hybrid nerve sheath tumor. Conclusion To our knowledge, this is the first reported case of a spinal nerve sheat tumor associated with CMN in a pediatric patient. The surgery and pathology of the case demonstrated distinctive features. This unique case and its management are shared with the literature.

Hyperbilirubinemia is a common problem during the neonatal period, which can lead to high morbidity and mortality if it is not treated properly. The most common first-line treatment used for hyperbilirubinemia is phototherapy. Glucose-6-phosphate dehydrogenase deficiency (G6PD) can cause indirect hyperbilirubinemia not only with hemolysis but also by affecting bilirubin metabolism in the liver during the neonatal period. In here, we report a three-day-old newborn with severe hyperbilirubinemia who underwent exchange transfusion with a diagnosis of G6PD deficiency to emphasize the importance of keeping in mind erythtocyte enzyme defects in the differential diagnosis of severe indirect hyperbilirubinemia.

Introduction: Hereditary spherocytosis (HS) is a congenital hemolytic anemia, often under-recognized in neonates. Co-inheritance with other genetic disorders like Gilbert syndrome (GS) and beta-thalassemia trait (BTT) can complicate the diagnosis. Case Report: We report a neonate presenting with significant unconjugated hyperbilirubinemia and anemia. Genetic testing revealed a triple diagnosis- HS due to a heterozygous deletion in the SPTB gene, BTT with a splice-site variant in the HBB gene, and heterozygosity for UGT1A1 promoter polymorphism associated with GS. The father, previously diagnosed with GS, was also found to have HS, explaining his long-standing splenomegaly and history of cholelithiasis. Conclusion: This rare triple genetic diagnosis highlights the need for comprehensive evaluation of neonatal jaundice and anemia, considering combined hemolytic, enzymatic and hemoglobinopathy causes. Detailed clinical evaluation of family members is crucial to avoid missed diagnoses.

Objectives Early diagnosis of neonatal sepsis may be helpful in decreasing neonatal mortality. Neutrophil CD64 (nCD64) is a leukocyte surface antigen whose expression increases about an hour after bacterial invasion. We aimed to study the expression and diagnostic utility of nCD64 in the early detection of neonatal sepsis compared to existing sepsis indicators. Materials and methods This prospective observational study was conducted on 140 neonates in a tertiary healthcare center. Those having clinical sepsis were taken as cases and healthy neonates were enrolled as controls. In cases, blood samples were collected for blood culture, sepsis screen and nCD64 expression. Neonates were divided into three groups: Group 1 (n = 3) with both blood culture and sepsis screen positive, Group 2 (n = 40) with blood culture negative but sepsis screen positive and Group 3 (n = 27) with both blood culture and sepsis screen negative. Group 4 (n = 70) was the control. Statistical analysis The data was entered in an MS EXCEL spreadsheet and was analyzed using SPSS version 21.0. Paired T test/Wilcoxon test was used for comparing nCD64. Quantitative and qualitative variables were also compared. The McNemar test was used to compare sensitivity and specificity. Results nCD64 expression was highest in Group 1 (23.2%), followed by Groups 2 and 3. It showed high sensitivity (78.57%) and specificity (100%) in sepsis cases. Significant positive correlation was also noted between nCD64 and other sepsis biomarkers. Conclusion CD64 expression may, thus, be considered as a rapid and reliable marker for early diagnosis of neonatal sepsis.

Preeclampsia (PE) remains a leading cause of maternal and neonatal morbidity and mortality globally. Among several experimental models developed to interrogate the pathogenesis of PE, the mouse model employing systemic infusion or transgenic overexpression of soluble fms-like tyrosine kinase-1 (sFlt1) has gained widespread use due to its capacity to induce cardinal features of the human disease. These include maternal hypertension, renal injury, endothelial dysfunction, placental abnormalities, fetal growth restriction, and adverse long-term outcomes. This review critically evaluates the sFlt1-based mouse model of PE, highlighting its utility for understanding the pathogenesis of angiogenic imbalance and its sequelae. We contrast findings from this model with clinical observations in human PE and discuss applications for studying early-onset versus late-onset forms. Finally, we address limitations and propose strategies to enhance its translational relevance. Placing the model in the context of human disease helps guide its use in future preclinical and translational research.