Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation.

Placental Pathology of Zika Virus: Viral Infection of the Placenta Induces Villous Stromal Macrophage (Hofbauer Cell) Proliferation and Hyperplasia.

Context: -The placenta is an important component in understanding the fetal response to intrauterine Zika virus infection, but the pathologic changes in this organ remain largely unknown. Hofbauer cells are fetal-derived macrophages normally present in the chorionic villous stroma. They have been implicated in a variety of physiological and pathologic processes, in particular involving infectious agents.

Intracardiac tumor causing left-ventricular outflow-tract obstruction in a newborn.

The following report describes the case of newborn girl with an asymptomatic systolic murmur, which on imaging revealed a nearly obstructive mass in the left-ventricular outflow tract. The mass was resected and found to be consistent with a rhabdomyoma. Here, we describe the pathologic and clinical characteristics of this tumor.

Solid pancreatic pseudopapillary tumor managed laparoscopically in adolescents: a case series and review of the literature.

Background: Solid pancreatic pseudopapillary tumors make up 1%-3% of all pancreatic tumors, occur predominantly in females, and usually present in the third and fourth decades of life. Less frequently, these tumors may present in children. Complete surgical excision is the treatment of choice with excellent outcomes.

Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor.

Mixed neuronal-glial tumors are rare and challenging to subclassify. One recently recognized variant, papillary glioneuronal tumor (PGNT), is characterized by prominent pseudopapillary structures and glioneuronal elements. We identified a novel translocation, t(9;17)(q31;q24), as the sole karyotypic anomaly in two PGNTs.

Hemangioendothelioma: a rare case of a primary intracardiac tumor.

Kaposiform hemangioendothelioma (KH) is a rare tumor of vascular origin that commonly affects the cutaneous tissues of the extremities. It can, however, affect the abdomen, thorax, head, or neck. Compared with juvenile hemangiomas, which tend to regress, KH tumors are locally aggressive and usually persist.

Placental weight and neurologic outcome in the infant: a review.

Objective: To review the agreement of published standards on placental weights (PW) and fetal-placental (F/P) ratios, examine factors contributing to PW and ask whether aberrant placental weight is associated with adverse neurologic outcome.

Methods: We conducted a literature search for standards of PW, F/P ratio and the relationship of PW to perinatal death, neonatal encephalopathy or cerebral palsy. We reviewed 17 studies of normative PW and 10 of F/P ratios.

Benign sacrococcygeal neoplasm arising at birth from a giant congenital melanocytic nevus.

Giant congenital melanocytic nevi (CMN) are considered to be premalignant with the highest risk for conversion to melanoma. Solid tumors within giant CMN presenting at birth are relatively unusual, and a variety of malignancies have been reported within these masses. However, the frequency of malignancy in these tumors is unknown.

Closed-chest transthoracic magnetic resonance imaging-guided ventricular septal defect closure in swine.

Objectives: The aim of this study was to close ventricular septal defects (VSDs) directly through the chest wall using magnetic resonance imaging (MRI) guidance, without cardiopulmonary bypass, sternotomy, or radiation exposure.

Background: Surgical, percutaneous, and hybrid management of VSD each have limitations and known morbidity.

Methods: Percutaneous muscular VSDs were created in 10 naive Yorkshire swine using a transjugular laser catheter.

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Objective: To characterize a novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Design: Genomic DNA was isolated from blood and submitted for commercial testing. The identified missense mutation was confirmed in brain DNA obtained at autopsy.

Multiple papillary fibroelastomas of the heart.

We report the case of a 41-year-old woman who presented with extensive papillary fibroelastomas of the heart after multiple previous surgical procedures for hypertrophic cardiomyopathy. This case is significant because of the locally aggressive nature of the cardiac papillary fibroelastoma.

Castleman disease: surgical cure in pediatric patients.

Castleman disease is a rare disorder characterized by lymphoid hyperplasia which rarely manifests in children. We present 2 cases which highlight both histologic variants of this disease, and provide suggestions regarding workup and treatment with the goal of making practitioners aware of Castleman disease in the differential diagnosis of a child presenting with vague symptoms.

Effects of hemoglobin C and S traits on the results of 14 commercial glycated hemoglobin assays.

Glycated hemoglobin is widely used in the management of diabetes mellitus. At least 300,000 Americans with diabetes mellitus have the hemoglobin (Hb) C or S trait. The accuracy of HbA1c methods can be adversely affected by the presence of these traits.

Evaluation of the BiliChek being used on hyperbilirubinemic newborns undergoing home phototherapy.

Context: Newborns are often screened prior to discharge for hyperbilirubinemia. Transcutaneous bilirubin analyzers, such as the BiliChek, are promoted as screening tools, but it is unclear whether they also function well as monitoring devices. Newborns on home phototherapy require frequent determinations of serum bilirubin levels to monitor therapy effects.

Loss of the PTCH1 gene locus in cardiac fibroma.

Background: Cardiac fibroma (CF) is a rare benign tumor that is poorly characterized genetically. CF is more commonly encountered in patients with Gorlin syndrome (3%) than the general population. Mutations of the tumor suppressor gene PTCH1 are the underlying cause of Gorlin syndrome.

Intracranial leptomeningeal metastasis from thymic carcinoma: case report and review.

Background: Thymic carcinoma is an uncommon malignant tumor of the anterior mediastinum. Meningeal metastasis from this type of neoplasm is extraordinarily rare and the prognosis is abysmal.

Case Description: This article presents the case of a 45-year-old man with known metastatic thymic carcinoma who presented with intractable headaches.

Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.

FRAXE mental retardation results from expansion and methylation of a CCG trinucleotide repeat located in exon 1 of the X-linked FMR2 gene, which results in transcriptional silencing. The product of FMR2 is a member of a family of proteins rich in serine and proline, members of which have been associated with transcriptional activation. We have developed a murine Fmr2 gene knock-out model by replacing a fragment containing parts of exon 1 and intron 1 with the Escherichia coli lacZ gene, placing lacZ under control of the Fmr2 promoter.

Epstein-Barr virus-associated smooth muscle tumors in ataxia-telangiectasia: a case report and review.

Chromosomal breakage syndromes, including ataxia-telangiectasia (AT), are autosomal recessive disorders in which DNA repair mechanisms are defective resulting in chromosomal instability. Affected individuals are at high risk for developing malignancy because of the widespread resulting cellular effects. One such effect, severe immunosuppression, can permit virally mediated neoplasms to manifest, similar to those seen in acquired immunodeficiency syndrome (AIDS), congenital immune deficiency syndromes, and posttransplant populations.