Fetal and Pediatric Pathology最新文献

Objective: To examine the expression pattern of microRNA-181c-5p (miR-181c-5p) in fetal distress and explore its influence on neuronal apoptosis. Methods: 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. Results: 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). Conclusions: MiR-181c-5p is likely involved in the regulation of neuronal cell growth and apoptosis associated with fetal distress.

Alanyl-tRNA synthetase 1 (AARS1) is a cytosolic enzyme belonging to the Aminoacyl transfer RNA synthetases group that plays a key role in protein translation. Bi-allelic AARS1 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 AARS1 gene, a novel mutation with autosomal recessive inheritance. AARS1 mutation affects protein biosynthesis and mitochondrial functions, causing a multisystemic disorder. The first presentation with liver dysfunction is infrequent.

Background: Reninoma is an uncommon mesenchymal tumor of the kidney. It is characterized by renin secretion and uncontrollable hypertension with associated hypokalemia. Case report: 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. Conclusion: 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.

Background: ACTG2 (smooth muscle actin γ-2) is a gene associated with smooth muscle function. Introduction: 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 ACTG2-related VM. Patients and methods: Here we present the clinical and molecular investigation of three patients with visceral smooth muscle diseases carrying pathogenetic variants in the ACTG2 gene. Discussion and conclusion: 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.

Background: 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.

Case report: A 2-year-old boy presented with a left sided abdominal mass. Imaging studies were consistent with Wilms tumor. He received chemotherapy followed by nephrectomy. Histopathological examination revealed a primary intrarenal yolk sac tumor.

Conclusion: This case report emphasizes the need to include germ cell tumors, particularly YSTs, in the differential diagnosis of pediatric renal tumors.

Introduction: This study resumed epidemiological, biochemical and genetic factors associated with the occurrence of neural tube defects in Tunisia. Material and methods: This work builds on our previously published investigations, utilizing data retrospectively collected during (1991-2011), and prospectively collected between January 1, 2012, and December 30, 2013. Results: Our studies have demontrated that plasma folate, vitamin B12 and vitamin D concentrations were significantly lower in cases compared with controls. Homocysteine concentrations were significantly higher in cases compared with controls. Cases had higher concentrations of heptadecanoic acid, linolelaidic acid and arachidonic acid/(eicosapentaenoic acid + docosahexaenoic acid) ratio than controls. Nervonic acid, arachidonic acid, adrenic acid, Eicosapentaenoic Acid, Docosahexaenoic Acid, and omega 3 polyunsatured fatty acids concentrations were significantly lower in cases. Conclusion: Such research would contribute to a better understanding of the biochemical and genetic variances in mothers, highlighting the suitable status of vitamins, homocysteine, lipid profile, and genotype.

Background: The association between maternal serum bilirubin levels and miscarriage risk remains unclear. This study investigates the causal link between maternal bilirubin levels and both sporadic and recurrent miscarriage using Mendelian randomization (MR) and linkage disequilibrium score regression (LDSC). Methods: A bidirectional two-sample MR analysis examined genetic associations between maternal serum bilirubin (direct and total) and miscarriage. Genetic instruments were derived from genome-wide association studies (GWAS). LDSC was used to assess shared genetic architecture. Odds ratios (OR) and p values were employed to determine statistical significance. Results: Elevated maternal direct bilirubin levels were significantly associated with sporadic miscarriage (OR = 1.028, p = 0.019) and recurrent miscarriage (OR = 1.016, p = 0.005). Similarly, maternal total bilirubin was linked to sporadic miscarriage (OR = 1.022, p = 0.030) and recurrent miscarriage (OR = 1.013, p = 0.007). In contrast, reverse MR showed no significant association between maternal bilirubin level and miscarriage. Furthermore, LDSC confirmed no shared genetic architecture. Conclusion: Elevated maternal serum bilirubin may increase miscarriage risk, warranting further investigation.

Introduction: Hypercoiling of umbilical cord with stricture (HCS) is one of the most common etiologies of intrauterine fetal death (IUFD). Whether Wharton's Jelly close to fetal abdomen plays roles in pathogenesis is controversial. Methods: Fetal autopsies were reviewed between 2015 and 2022 and HCS with maternal and fetal factors were examined to determine if these factors were relevant to HCS and IUFD. Results: Totally 389 fetal autopsies were reviewed and 75 cases of HCS were identified. HCS was found more frequently in older (maternal age ≥35) multiparous women with longer cords and increased umbilical coiling index (UCI) (both p < 0.01). There was no significant difference in maternal race/ethnicity, BMI, fetal sex, genetics, seasonality, multiple pregnancies or anomalies in HCS. Conclusions: HCS appeared related to maternal characteristics and it occurred more frequently in older multiparous women associated with longer cords. Lack or poorly developed Wharton's jelly close to fetal abdomen plays important role in IUFD.

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

Methods: This retrospective cohort study included cases diagnosed via chorionic villus sampling, amniocentesis, or fetal cord blood sampling. Data collected included maternal demographics, gestational age, first-trimester screening results, ultrasound findings, genetic analyses, and pregnancy outcomes.

Results: A total of 354 cases of common trisomies and 18 cases of RATs (trisomies 2, 5, 7, 8, 9, 12, 20, and 22) were identified. Common trisomies were associated with higher maternal age (p = 0.003) and advanced maternal age rates (≥35 years) (p = 0.009). Fetal (61.1% vs. 1.7%) and confined placental mosaicism (22.2% vs. 0.3%) were significantly more frequent in RATs (p < 0.001, for all). Ultrasound anomalies were observed in 11 of 18 (61.1%) RATs, with trisomy 22 frequently involving craniofacial and cardiac abnormalities.

Conclusion: RATs display diverse clinical outcomes. Mosaicism and ultrasound findings are critical for assessing prognosis and guiding clinical management.

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women of childbearing age. SLE is associated with many maternal and neonatal morbidities. The aim of this study was to evaluate the neonatal outcomes of infants born to mothers with SLE.

Methods: This retrospective cohort study included data on 57 Turkish mother-infant pairs over a 10-year period. Demographic data of the newborns and the presence of neonatal morbidities such as cardiovascular, hematological involvement, and congenital anomalies were the primary outcomes of the study.

Results: The median maternal age and gestational age at delivery were 30 (22-43) years and 37.6 (24.1-40.9) weeks, respectively. Thirteen (22.8%) of the mothers were primigravid and 59.6% (n = 34) of the deliveries were by cesarean section. Anti-Ro, anti-La, and anti-dsDNA autoantibodies were present in 38.6% (n = 22) of the mothers. Only one woman developed pre-eclampsia. Nine (15.8%) of the newborns were preterm, 8 (14%) were intrauterine growth restricted. The mean birth weight of the infants was 2846 (675-4240) grams. Three infants (5.2%) required resuscitation in the delivery room. One infant (1.8%) developed a complete atrioventricular block and 1 (1.8%) had esophageal atresia. None of the infants developed the typical rash of neonatal lupus.

Conclusions: SLE is an important systemic disease that can complicate pregnancy and neonatal outcomes. Optimal multidisciplinary antenatal care of the mother is essential to improve maternal and fetal outcomes.