MicroRNA dysregulation in the heart and lung of infants with bronchopulmonary dysplasia.

Unlabelled: BACKGROUND AND OBJECTIVES: Bronchopulmonary dysplasia (BPD) is a serious complication of preterm birth, resulting in significant morbidity and mortality. Recent studies have suggested that microRNA (miRNA) dysregulation is involved in the pathogenesis of BPD and may serve as biomarkers for early detection. We conducted a directed search for dysregulated miRNAs in lung and heart autopsy samples of infants with histologic BPD.

Early histological changes of bronchopulmonary dysplasia and pulmonary hypertension may precede clinical diagnosis in preterm infants.

Bronchopulmonary Dysplasia (BPD), the commonest complication of prematurity, is defined by treatment with oxygen for ≥28 days. Pulmonary hypertension (PH) often coexists with BPD and is associated with increased mortality. In 42 autopsies, histological changes of BPD and PH were demonstrated in 25 % and 65 % respectively of preterm infants <28 days of age, highlighting the need for early diagnosis and treatment.

Revisiting the Newly Modified Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and Reporting Newly Identified Genes.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia is an inherited cardiomyopathy, characterized by replacement of the RV muscle wall with fibrofatty tissue. The diagnosis is challenging, due to the absence of a unique presentation and a lack of specific reproducible diagnostic criteria. Slides and additional clinical information including follow up from 16 cases were reviewed.

Histopathology of the Conduction System in Long QT Syndrome.

While much is known about the channelopathy disorder Long QT Syndrome (LQTS), the histopathological findings and their implications on the disease have remained largely unexplored to date. In this review, we discuss the background of LQTS and highlight the importance of histological findings in the absence of genetic markers or when genetic testing is unavailable. Three pediatric cases of LQTS were identified, evaluated histologically, and compared to two adult cases.

Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Study of 12 Cases from One Institution and Literature Review.

Background: CRMO is a sterile auto inflammatory bone disease that affects the pediatric population. Recently, single gene mutations in LPIN2, DIRA, and IL1RN have been reported in murine models of CRMO.

Materials And Methods: The medical records and histopathological slides of twelve patients were reviewed.

Juvenile Xanthogranuloma of the Pancreas in a Pediatric Patient Mimicking Pancreatic Neoplasm With High CA 19-9: Case Report and Literature Review.

Juvenile xanthogranuloma (JXG) is a rare, non-Langerhans cell histiocytosis. It is usually a benign and self-limiting condition. The most common sites are skin and soft tissue.

Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.

Background: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis.

Materials And Methods: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed.

Anti-NMDA receptor encephalitis in an adolescent with a cryptic ovarian teratoma.

Anti--methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disease frequently associated with ovarian teratomas. In cases where an ovarian teratoma is identified, treatment involves prompt removal of the ovarian teratoma, resulting in significant clinical improvement and decreased incidence of relapse. We present the case of a 14-year-old female patient admitted for progressively worsening psychiatric and neurological status, diagnosed with anti-NMDAR encephalitis, and negative initial imaging for ovarian pathology.

Calcineurin inhibitors and renal biopsy in children with idiopathic nephrotic syndrome.

Idiopathic nephrotic syndrome (NS) is common in children, and most patients respond to corticosteroid therapy. Patients who relapse may need additional immunosuppression with cyclophosphamide, mycophenolate mofetil, calcineurin inhibitors (CNI), or rituximab. Many such patients undergo protocol renal biopsies before and after the initiation of CNI therapy.

Giant Anal Fibroepithelial Polyp in a Healthy Teenage Boy: A Case Report and Literature Review.

Fibroepithelial polyps of the anus have been described as mucosal hypertrophy in response to chronic irritation or tissue damage. Lesions usually remain small and mostly present in elderly adults with local disease. An otherwise healthy 15-year-old male presented with a giant pedunculated mass projecting out of the anal verge that enlarged over 2 years, causing discomfort.

A Novel Rearrangement in Cranial Fasciitis.

Cranial fasciitis is an uncommon benign fibroblastic tumor, generally histologically identical to nodular fasciitis. It develops almost exclusively in children. Cranial fasciitis manifests clinically as a painless rapidly growing solitary nodule in the head and neck area, frequently eroding the underlying bone.

Pediatric Right Ventricular Cardiac Steatosis following Immunosuppressive Treatment.

Right ventricular myocardial fatty infiltration has been observed in pediatric cardiac allografts with an associated decrease in graft life expectancy. A possible explanation included an immunosuppressant drug effect which prompted us to examine common factors between non-cardiac transplanted immunosuppressed patients and postmortem hearts of pediatric patients who died of non-cardiac causes. Sixty-one of 1,030 pediatric autopsies were from immunosuppressed children who were treated with corticosteroids for malignant tumors, non-cardiac transplantations, or other chronic clinical conditions.

Correlation Between E6 and E7 Oncogenes and Malignant Transformation of Laryngeal Papillomatosis (LP) with Human Papillomavirus (HPV) in Pediatric Population.

Laryngeal papillomatosis (LP) is the most common benign neoplasm affecting the upper respiratory tract mucosa in children. The most common genotypes of HPV associated with LP are types 6 and 11. : Among 187 patients identified in our institution with LP, four cases showed malignant transformation to invasive squamous carcinoma.

Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited, progressive form of cardiomyopathy, which is characterized by fibrofatty replacement of the myocardium. While the gold standard for diagnosis remains pathologic evaluation of biopsy, advances in noninvasive imaging, including cardiac magnetic resonance imaging (CMRI), have led to improved clinical diagnosis. We report three additional cases of pediatric patients that have pathologically confirmed ARVC/D with CMRI images, demonstrating extensive macroscopic fatty infiltration of the right and left ventricular myocardium.

Monozygotic twins with neuroblastoma MS have a similar molecular profile: a case of twin-to-twin metastasis.

Fetoplacental neuroblastoma metastasis has been postulated as a mechanism accounting for concordant cases where one twin develops a primary tumour and the second twin manifests the disease without an identifiable primary site. These tumours may originate and spread concomitantly due to the same genetic background shared by monozygotic twins. This study investigated the molecular profile of stage MS neuroblastoma presenting concomitantly in monozygotic twins.

Intravascular Papillary Endothelial Hyperplasia in the Coronary Artery: An Unusual Cause of Massive Myocardial Infarction in Hypoplastic Left Heart Syndrome.

: Intravascular papillary endothelial hyperplasia (IPEH) is a benign vascular lesion that usually involves the head and neck or extremities. Involvement of the coronary arterial system is unreported. : A 1-month-old patient born with hypoplastic left heart syndrome died from a massive myocardial infarction shortly after first stage palliation with Norwood/Sano.