Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.

Alanyl-tRNA synthetase 1 () is a cytosolic enzyme belonging to the Aminoacyl transfer RNA synthetases group that plays a key role in protein translation. Bi-allelic mutations presenting as liver dysfunction are rare. A 10-month-old baby girl presented with upper gastrointestinal bleeding and abdominal distension after a short history of febrile illness. There was hepatosplenomegaly with poor growth, microcephaly and delayed developmental milestones on examination. Laboratory investigations showed liver biochemical dysfunction along with correctable coagulopathy. Liver histopathology depicted diffuse macrovesicular steatosis along with expansion of the portal tracts due to accumulation of foamy histiocytes. The hepatic lobules also highlighted the accumulation of foamy histiocytes which were diastase-PAS, faint Perls, and CD68 positive simulating storage cells. Besides, mild portal fibrosis with incomplete septa and mild focal reticulin condensation were also noted. Whole-exome sequencing clinched the diagnosis of a homozygous mutation in the gene, a novel mutation with autosomal recessive inheritance. mutation affects protein biosynthesis and mitochondrial functions, causing a multisystemic disorder. The first presentation with liver dysfunction is infrequent.

(smooth muscle actin γ-2) is a gene associated with smooth muscle function. Variants in this gene can lead to visceral myopathy (VM), which is a spectrum of various disorders affecting smooth muscle in different parts of the body. There is gap in the literature regarding understanding the full scope of -related VM. Here we present the clinical and molecular investigation of three patients with visceral smooth muscle diseases carrying pathogenetic variants in the gene. The severity of the disease varies in great extent, even among monochorionic twins sharing same mutation and intrauterine environment, suggesting that second-site factors are likely to impact disease manifestations.

Reninoma is an uncommon mesenchymal tumor of the kidney. It is characterized by renin secretion and uncontrollable hypertension with associated hypokalemia. Here we report a case in a 15-year-old girl who presented with refractory hypertension, muscle weakness, and fatigue. Diagnostic workup revealed severe hypokalemia, metabolic alkalosis and elevated plasma renin activity with raised aldosterone levels. Renal artery doppler done to exclude renal artery stenosis, revealed a left sided renal mass. Simple nephrectomy was done and histopathological and immunohistochemical examination were consistent with a diagnosis of reninoma. Electron microscopy revealed renin crystals in the cytoplasm, thus confirming the diagnosis. This report underscores the importance of including reninoma in the differential diagnosis of secondary hypertension in an adolescent. Additionally, insights into histopathology and electron microscopy are important for the diagnosis of reninoma as there are several renal tumors that have renin-secreting activity.

To evaluate the incidence, prenatal findings, and pregnancy outcomes of rare autosomal trisomies (RATs).

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.

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. 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. 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.

This study aimed to analyze mitochondrial DNA levels in neonates with neonatal acute respiratory distress syndrome(ARDS). Neonates diagnosed with ARDS from January 2021 to January 2023 were prospectively included as a study group. The control group was selected from healthy neonates during the same period. Real-time quantitative PCR was used to quantity plasma mtDNA levels. Peripheral blood mononuclear cells were isolated, and the expression levels of cGAS and STING mRNA were measured by real-time quantitative PCR. Peripheral blood mononuclear cells were co-cultured with mtDNA, and ELISA was used to determine the levels of serum IL-6, IL-23, and IFN-γ. Pearson correlation analysis was used to assess the correlation between serum mtDNA and serum IL-6, IL-23, and IFN-γ levels. this study included 25 with mild ARDS, 15 with moderate ARDS, and 10 with severe ARDS, alongside 25 neonates in healthy control group. Compared with the control group, plasma mtDNA levels, serum levels cGAS-STING mRNA, IL-6, IL-23, and IFN-γ were significantly increased in the ARDS groups ( < 0.05). Compared with the mild ARDS group, plasma mtDNA, serum cGAS-STING mRNA, IL-6, IL-23, and IFN-γ levels were significantly increased in the moderate and severe ARDS groups ( < 0.05). Furthermore, compared with day 1, plasma mtDNA, serum cGAS-STING mRNA, IL-6, IL-23, and IFN-γ levels significantly increased on day 3 and significantly decreased on day 7 in all ARDS groups ( < 0.05). Pearson correlation analysis showed that mtDNA levels were correlated with serum IL-6, IL-23, IFN-γ, and cGAS-STING mRNA levels ( < 0.05). Our data demonstrate a potential role of mtDNA with ARDS patients, which may produce inflammatory mediators by activating the cGAS/STING signaling pathway.

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.

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.

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.

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. 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. 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. Birth defects exacerbate levels of mortality, length of hospital stay, and complications in preterm infants as opposed to asphyxiation during birth. 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.

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. 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. 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.

Renal tumors are common primary tumors in children with Wilms tumor being the most prevalent one. Others include clear cell sarcoma kidney, congenital mesoblastic nephroma and rhabdoid tumors. Extragonadal germ cell tumors especially primary intrarenal yolk sac tumor (YST) is extremely uncommon. Only 6 cases of primary intrarenal YST have been reported so far.

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.

Congenital thoracic mass lesions are generally benign but can cause significant morbidity and mortality due to airway obstruction. This study highlights the role of perinatal autopsy in identifying these lesions and correlates autopsy findings with prenatal imaging.

To examine the expression pattern of microRNA-181c-5p (miR-181c-5p) in fetal distress and explore its influence on neuronal apoptosis. Quantitative real-time polymerase chain reaction measurement of miR-181c-5p. Enzyme-linked immunosorbent assay was utilized for the examination of apoptosis-related proteins. A fetal distress model was established with oxygen-glucose deprivation/reoxygenation (OGD/R). Cell counting kit-8 and flow cytometry were used to evaluate cellular behaviors. Luciferase reporter assay was employed for target confirmation. MiR-181c-5p was markedly declined in rats with fetal distress. Caspase-3 was distinctly elevated, and survivin was distinctly attenuated in rat models with fetal distress. Overexpression of miR-181c-5p led to a significant promotion of cell viability and a suppression of cell apoptosis in the OGD/R cell model, the appearance of which was rescued by overexpression of mitogen-activated protein kinase 1 (MAPK1). MiR-181c-5p is likely involved in the regulation of neuronal cell growth and apoptosis associated with fetal distress.

To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.

Etiological diagnosis of congenital anomalies greatly influences further reproductive genetic counseling. We herein report our experience of using various modalities for identification of the same. Pregnancies undergoing elective termination due to fetal congenital anomaly(ies) detected on antenatal ultrasonography were enrolled. Fetal autopsy, radiological studies and histopathology were done in all cases. Chromosomal Microarray (CMA) and Exome sequencing (ES) was done in selected cases. One hundred seventy-four fetuses were enrolled. In 19.4% of cases a change in diagnosis/recurrence risk was observed based on a finding in autopsy. Utility of radiology and histopathology was observed in 5.7% and 13.4% of a selected subgroup of the cohort respectively. 39 cases (22%) were taken up for genetic testing. In this selected cohort overall positivity rate of genetic testing was 43.5% (28% and 71% for CMA and ES respectively). A phenotype-driven and systematic approach has the highest yield in detecting causes of fetal congenital anomalies.

This study evaluates fetal N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations in umbilical cord blood from anemic versus non-anemic term pregnancies.

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.