Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.

Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

The Prevalence and Clinical Impact of Transition Zone Anastomosis in Hirschsprung Disease: A Systematic Review and Meta-Analysis.

Background: Hirschsprung disease (HD) is characterized by absent neuronal innervation of the distal colonic bowel wall and is surgically treated by removing the affected bowel segment via pull-through surgery (PT). Incomplete removal of the affected segment is called transition zone anastomosis (TZA). The current systematic review aims to provide a comprehensive overview of the prevalence and clinical impact of TZA.

Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses.

Background:  The gold standard for diagnosing Hirschsprung disease (HD) in patients younger than 6 months is pathological examination of rectal suction biopsy (RSB). The aim of this study was to gain insight into the following: (1) complications following RSB, (2) final diagnosis of patients referred for RSB, and (3) factors associated with HD.

Methods:  Patients suspected of HD referred for RSB at our center were analyzed retrospectively.

Placental pathology in cancer during pregnancy and after cancer treatment exposure.

Cancer during pregnancy has been associated with (pathologically) small for gestational age offspring, especially after exposure to chemotherapy in utero. These infants are most likely growth restricted, but sonographic results are often lacking. In view of the paucity of data on underlying pathophysiological mechanisms, the objective was to summarize all studies investigating placental pathology related to cancer(treatment).

Exposure to intrauterine inflammation and late-onset sepsis in very preterm infants.

Background: Late-onset sepsis is an important cause of mortality and morbidity in preterm infants. As these infants rely mostly on their innate immune system to fight off infection, enhancing this immune system by appropriate stimuli may prevent late-onset sepsis. However, it remains unclear which stimuli can enhance the neonatal immune system.

Detection of prostate cancer with F-DCFPyL PET/CT compared to final histopathology of radical prostatectomy specimens: is PSMA-targeted biopsy feasible? The DeTeCT trial.

Purpose: In primary prostate cancer (PCa) patients, accurate staging and histologic grading are crucial to guide treatment decisions. F-DCFPyL (PSMA)-PET/CT has been successfully introduced for (re)staging PCa, showing high accuracy to localise PCa in lymph nodes and/or osseous structures. The diagnostic performance of F-DCFPyL-PET/CT in localizing primary PCa within the prostate gland was assessed, allowing for PSMA-guided targeted-prostate biopsy.

Pelvic lymph-node staging with F-DCFPyL PET/CT prior to extended pelvic lymph-node dissection in primary prostate cancer - the SALT trial.

Purpose: The detection of lymph-node metastases (N1) with conventional imaging such as magnetic resonance imaging (MRI) and computed tomography (CT) is inadequate for primarily diagnosed prostate cancer (PCa). Prostate-specific membrane antigen (PSMA) PET/CT is successfully introduced for the staging of (biochemically) recurrent PCa. Besides the frequently used gallium-labelled PSMA tracers, fluorine-labelled PSMA tracers are available.

Comparative Analysis of Urine Fractions for Optimal Bladder Cancer Detection Using DNA Methylation Markers.

DNA methylation analysis of full void urine and urine pellet seems promising for bladder cancer (BC) detection and surveillance. Urinary cell-free DNA from urine supernatant is now gaining interest for other molecular tests in BC. This study aims to evaluate which urine fraction is preferred for BC diagnosis using methylation markers: full void urine, urine pellet or supernatant.

Maternal vascular malperfusion in spontaneous preterm birth placentas related to clinical outcome of subsequent pregnancy.

Introduction: Spontaneous preterm birth (SPTB) has several causes and its pathophysiology remains unclear. In a significant proportion of SPTB, placental histology shows signs of maternal vascular malperfusion (MVM); commonly associated with hypertensive disorders of pregnancy (HD), fetal growth restriction (FGR) and placental abruption, together referred to as clinical ischemic placental diseases (IPD). We hypothesized that women with SPTB and placental MVM are at elevated risk for IPD in a subsequent pregnancy.

Objectifying grade in Ta-T1 urothelial carcinomas of the bladder using proliferative and quantitative markers: A multicentre study in 310 bladder tumors.

Purpose: Histological grade is an important prognostic factor in patients with non-muscle-invasive bladder cancer (NMIBC). However, interobserver variability is high. Previous studies have suggested that quantification of histological features is useful to objectify grading.

Placental Histology After Minor Trauma in Pregnancy: A Pilot Study.

Objective: Trauma in pregnancy may cause placental abruption. Consequences of moderate placental injury on neurodevelopment are unknown. The aim was to evaluate placental histology after maternal trauma.

Sampling and Definitions of Placental Lesions: Amsterdam Placental Workshop Group Consensus Statement.

Context: -The value of placental examination in investigations of adverse pregnancy outcomes may be compromised by sampling and definition differences between laboratories.

Objective: -To establish an agreed-upon protocol for sampling the placenta, and for diagnostic criteria for placental lesions. Recommendations would cover reporting placentas in tertiary centers as well as in community hospitals and district general hospitals, and are also relevant to the scientific research community.

Human Milk Blocks DC-SIGN-Pathogen Interaction via MUC1.

Beneficial effects of breastfeeding are well-recognized and include both immediate neonatal protection against pathogens and long-term protection against allergies and autoimmune diseases. Although several proteins have been identified to have anti-viral or anti-bacterial effects like secretory IgA or lactoferrin, the mechanisms of immune modulation are not fully understood. Recent studies identified important beneficial effects of glycans in human milk, such as those expressed in oligosaccharides or on glycoproteins.

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.

Introduction: BRCA1-mutated breast carcinomas may have distinct biological features, suggesting the involvement of specific oncogenic pathways in tumor development. The identification of genomic aberrations characteristic for BRCA1-mutated breast carcinomas could lead to a better understanding of BRCA1-associated oncogenic events and could prove valuable in clinical testing for BRCA1-involvement in patients.

Methods: For this purpose, genomic and gene expression profiles of basal-like BRCA1-mutated breast tumors (n = 27) were compared with basal-like familial BRCAX (non-BRCA1/2/CHEK2*1100delC) tumors (n = 14) in a familial cohort of 120 breast carcinomas.

WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.

Background: Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal and gonadal cancer. Intron 9 splice-site mutations that influence the balance between WT1 isoforms cause a nearly similar phenotype, known as Frasier syndrome. Nonsense mutations and deletions only lead to WT1 haploinsufficiency and, hence, to less severe gonadal dysgenesis and late-onset nephropathy.

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS.

[A boy with cervical focal myositis].

Background: Focal myositis is a rare idiopathic pseudotumour that mostly occurs in the extremities in adults.

Case Description: An 8-year-old boy presented with a few months history of swelling in the neck and fever. Ultrasound investigation revealed an inhomogenous mass consistent with lymphadenitis.

Eosinophilic esophagitis after esophageal atresia: is there an association? Case presentation and literature review.

Eosinophilic esophagitis (EoE) is a relatively new condition resulting in dysphagia or symptoms resembling gastroesophageal reflux disease, symptoms that also are common in patients with a history of esophageal atresia. We present 2 patients with persistent dysphagia after repair of esophageal atresia that was caused by EoE. Although the exact etiology and pathogenesis of EoE remain unclear, it is now generally accepted that it is the result of a T-helper cell 2-type immune response with a crucial role for the eosinophil-specific chemotaxis factor eotaxin 3 and eosinophils.

Placental pathology and long-term neurodevelopment of very preterm infants.

Objective: The objective of the study was to compare neonatal morbidity and long-term neurodevelopmental outcome between very preterm infants with placental underperfusion and very preterm infants with histological chorioamnionitis.

Study Design: We measured the mental and motor development at age 2 and 7 years in 51 very preterm infants with placental underperfusion and 21 very preterm infants with histological chorioamnionitis.

Results: At 2 years, very preterm infants with placental underperfusion had poorer mental development than very preterm infants with histological chorioamnionitis (mean [SD] 90.

[Dysphagia after introduction of solid food: typical presentation of congenital oesophageal stenosis].

Background: Congenital oesophageal stenosis is a rare cause of food passage symptoms in infants. It has a typical presentation with symptoms of dysphagia of solid food, starting at the time of introducing supplementary feeding.

Case Description: We present a 6-month-old girl, who started spitting and coughing and had a slower growth rate after the introduction of solid food.

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature.

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed.

Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy.

Background And Purpose: Quantitative MR imaging techniques may improve the pathologic specificity of MR imaging regarding white matter abnormalities. Our purposes were to determine whether ADC, FA, MTR, and MRS metabolites correlate with the degree of white matter damage in patients with X-ALD; whether differences in ADC, FA, and MTR observed in vivo are retained in fresh and formalin-fixed postmortem brain tissue; and whether the differences predict histopathology.

Materials And Methods: MRS metabolites, MTR, ADC, and FA, were determined in 7 patients with X-ALD in 3 white matter areas (NAWM, active demyelination, and complete demyelination) and were compared with values obtained in 14 controls.

Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions.

Congenital CYTOMEGALOVIRUS (CMV) infection and periventricular leukomalacia (PVL) both lead to static cerebral white matter lesions. In contrast to PVL, the neuropathologicAL substrate of these lesions in congenital CMV is not clear. By comparing changes in quantitative magnetic resonance (MR) parameters and MR spectroscopy metabolite concentrations we wanted to determine whether the nature of the white matter pathology in congenital CMV infection could be similar to the known pathology of PVL.

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.

Introduction: Alexander disease is a rare disorder of the central nervous system with characteristic symmetric white matter abnormalities with frontal predominance on magnetic resonance (MR) images. Histopathology shows a lack of myelin in the affected white matter, variably interpreted as hypomyelination or demyelination. To increase our insight into the nature of the pathology leading to the MR imaging findings in Alexander disease, we applied serial MR imaging, spectroscopy, magnetization transfer (MT) imaging (MTI), and diffusion tensor imaging (DTI) in six patients with juvenile Alexander disease.