Fetal and Pediatric Pathology

Background: Wilson's disease (WD) is a copper metabolism disorder caused by ATP7B gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of ATP7B and show demographic and phenotypic differences in this study. Materials and methods: The clinical and demographic characteristics of patients who underwent ATP7B gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD. Results: An uncertain significance (D563N) and seven likely pathogenic (Y532D, Y715Y, T977K, K1028*, E1086K, A1227Pfs*103, and E1242K) variants were identified as associated with WD...

Background: Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. Case report: We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum...

Introduction: Placental examination is valuable for diagnosing congenital syphilis, but the classic histological triad is not always observed. This study aimed to identify additional morphological clues, evaluate the sensitivity of IHC and qPCR, and investigate the impact of HIV co-infection and penicillin treatment on placental morphology. Materials and methods: Two hundred and fifteen placental specimens with treponemal infection were reviewed. Morphological findings, IHC, and qPCR results were analyzed. Results: Chronic villitis (94%), acute chorioamnionitis (91...

Background: Neurogenic monodermal teratomas (NMTs) have been reported in the ovaries but not from bone. Case Report : A 6-year-old girl had an incidentally discovered lesion in the right scapula. Upon removal, it was an NMT with predominant choroid plexus. The disease had not progressed for 31 months. Conclusion: Neurogenic monodermal teratomas can also occur in bone.

BACKGROUND: Histiocytoses patients present with highly heterogeneous clinical and histopathological pictures requiring multidisciplinary management. Mixed histiocytosis is a recently described group of syndromes defined by the histological overlap of Langerhans cell histiocytosis and other histiocytic proliferations that include three clinically and prognostically different conditions (i.e., Type-1-3 mixed histiocytosis). CASE REPORT: We describe a 10 year-old boy with unifocal (type-3) mixed histiocytosis - Langerhans cell histiocytosis combined with a lesion with features intermediate between Rosai-Dorfman disease and reticulohistiocytosis...

BACKGROUND: Giant congenital melanocytic nevus (GCMN) is characterized by its large size and potential for transformation into melanoma. It can be associated with other neural cristopathies, including neurofibroma, however, it has not previously been described with a congenital neurofibroma. CASE REPORT: A newborn girl presented with a large congenital neurofibroma arising in a bathing trunk type of giant congenital melanocytic nevus. CONCLUSION: Congenital neurofibromas can be associated with (or a component of) a GCMN...

Objective: To investigate the relaxation responses mediated by L-type Ca2+ channels and big-conductance Ca2+ -activated K+ (BKCa) channels and histological changes in the human umbilical artery (HUA) and myometrium smooth muscle isolated from pregnancies complicated with intrauterine growth restriction (IUGR). Methods: The muscle reactivity and the histology of the smooth muscle of the HUA and myometrium retrieved from 14 women with IUGR and 14 controls were investigated by the isolated tissue bath and immunohistochemical method...

Background: Previous studies identified microscopic changes associated with intrauterine retention of stillbirths based on clinical time of death. The objective of this study was to utilize unsupervised machine learning (not reliant on subjective measures) to identify features associated with time from death to delivery. Methods: Data were derived from the Stillbirth Collaborative Research Network. Features were chosen a priori for entry into hierarchical cluster analysis, including fetal and placental changes...

Objective: Wilms tumor (WT) and Rhabdoid tumor (RT) are pediatric renal tumors and their differentiation is based on histopathological and molecular analysis. The present study aimed to introduce the panels of mRNAs and microRNAs involved in the pathogenesis of these cancers using deep learning algorithms. Methods: Filter, graph, and association rule mining algorithms were applied to the mRNAs/microRNAs data. Results: Candidate miRNAs and mRNAs with high accuracy (AUC: 97%/93% and 94%/97%, respectively) could differentiate the WT and RT classes in training and test data...

Background: We correlated the expression of growth arrest and DNA damage-inducible protein beta (GADD45B) in renal tissue with IgA nephropathy (IgAN) with clinical characteristics and mesangial hypercellularity. Materials and methods: Biopsies from IgAN children were divided into M0 and M1 groups based on the Oxford classification, and biopsies with minimal change disease (MCD) were selected as controls. The mesangial cell proliferation area was evaluated on PAS-stained tissues, and the relative level of GADD45B in renal tissue was assessed by immunohistochemical staining (IHC)...

BACKGROUND: Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can occur in multiple extragonadal sites, of which sacrococcygeal, retroperitoneum, gastric and mediastinum are the commonest. There are 4 previous reports of primary penile YST. CASE REPORT: We describe a primary penile yolk sac tumor in a child with achondroplasia. CONCLUSION: Yolk sac tumor can occur in the penis during the prepubertal period...

Introduction: Metachronous mucoepidermoid carcinomas (MMEC) may occur in association with childhood leukemias and lymphomas. We compared molecular abnormalities of MMEC in patients with ALL with the abnormalities found in primary mucoepidermoid carcinomas (MECs) in pediatric cases and young adults. Materials and methods: Immunohistochemical stains for p63 and SOX10, molecular alterations in MAML2 and KMT2A genes detected by FISH and/or next-generation sequencing were studied in 12 pediatric MMECs secondary to ALL and six primary MECs in pediatric patients and young adults...

INTRODUCTION: We investigated the relationship between 25-hydroxyvitamin D (25-OHD) levels and the development of hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants. METHODS: Newborns having a gestational age (GA) of ≤32 weeks with hsPDA consisted the study group ( n  = 25, 20%), while newborns ≤32 weeks of GA without PDA/hsPDA were the control group ( n  = 97, 80%). RESULTS: The study group had lower GA, birth weight (BW) and 25-OHD levels ( p  < 0...

INTRODUCTION: Hepatocellular carcinoma (HCC) in pediatrics has a uniformly poor prognosis. Complete surgical resection or liver transplantation remain the only curative options. In contrast to adult HCC, literature on pediatric HCC is sparse and a majority of the distinct subtypes are undefined with regards to their histology, immunohistochemistry and prognosis. CASE REPORT: Two infants, one with biliary atresia and another with transaldolase deficiency, underwent living donor liver transplants...

Purpose: This study investigated the Humanin levels in the umbilical cord blood of fetuses with late fetal growth restriction (FGR) and -evaluated their association with perinatal outcomes. Materials and Methods: A total of 95 single pregnancies between 32-41 wk (45 with late FGR and 50 controls) were included. Doppler parameters, birth weight and the need for neonatal intensive care unit admission (NICU) were assessed. Correlations between Humanin levels and these parameters were analyzed. Results: Higher Humanin levels were found in fetuses with late FGR compared to the control group ( p  < 0...

Introduction: Oxidative stress and inflammation have proven to be key factors contributing to the occurrence of BPD. Erythromycin has been shown to be effective in treating the redox imbalance seen in many non-bacterial infectious chronic inflammatory diseases. Methods: Ninety-six premature rats were randomly divided into air + saline chloride group, air + erythromycin group, hyperoxia + saline chloride group and hyperoxia + erythromycin group. Lung tissue specimens were collected from 8 premature rats in each group on days 1, 7 and 14, respectively...

OBJECTIVE: We evaluated what placental pathologies were associated with adverse preterm births. MATERIALS AND METHODS: Placental findings, classified according to the Amsterdam criteria, were correlated with infant outcomes. The fetal vascular lesions, inflammatory responses other than histological chorioamnionitis (HCA), and placentas with combined maternal vascular malperfusion (MVM) and HCA were excluded. RESULTS: A total of 772 placentas were evaluated...

Objective: To assess serial methemoglobin (MetHb) levels in preterm infants as a possible diagnostic method for late-onset sepsis (LOS). Methods: Preterm infants were assigned into two groups: those with culture-proven LOS and controls. Serial MetHb levels were measured. Results: The MetHb values of the LOS group were found to be significantly increased ( p  < 0.001). The cutoff value for the detection of LOS was calculated as MetHb > 1.75%, optimized for a sensitivity of 81.9% and specificity of 90%...

Introduction: Chronic myeloid leukemia (CML) occurrence during pregnancy is unusual due to the low prevalence of the disease in women of childbearing age, with only three reported cases. Case report: The mother was diagnosed with CML with positive BCR-ABL gene fusion in her 32nd week of gestation. The placenta showed an increased population of myelocytes and segmented neutrophils in the intervillous space and features of maternal villous malperfusion (increased perivillous fibrinoid material and distal villous hypoplasia)...

Objective: Maternal hypertension is considered a risk factor for early neonatal neutropenia. We sought to explore this relationship. Study Design: This retrospective cohort study compared initial neutrophil counts in infants born to mothers with preeclampsia with severe features (PSF) and infants born to normotensive mothers using Negative Binomial Regression (NBR) and logistic regression models. Results: Maternal hypertension negatively affected the early neonatal neutrophil count (adjusted NRB coefficient 0...