Current Utilization of Electron Microscopy in the Pediatric Pathology Setting: A Survey by the SPP Practice Committee.

BACKGROUND: Electron microscopy (EM), once an important component in diagnosing pediatric diseases, has experienced a decline in its use. To assess the impact of this, pediatric pathology practices were surveyed regarding EM services. METHODS: The Society of Pediatric Pathology Practice Committee surveyed 113 society members from 74 hospitals. Settings included 36 academic tertiary, 32 free-standing children's, and 6 community hospitals. RESULTS: Over 60% maintained in-house EM services and had more than 2 pathologists interpreting EM while reporting a shortage of EM technologists. Freestanding children's hospitals had the most specimens (100-200 per year) and more diverse specimen types. Hospitals with fewer than 50 yearly specimens often used reference laboratories. Seventeen had terminated all in-house EM services. Challenges included decreasing caseloads due to alternative diagnostic methods, high operating costs, and shortages of EM technologists and EM-proficient pathologists. Kidney, liver, cilia, heart, and muscle biopsies most often required EM. Lung/bronchoalveolar lavage, tumor, skin, gastrointestinal, nerve, platelet, and autopsy samples less commonly needed EM. CONCLUSIONS: The survey revealed challenges in maintaining EM services but demonstrated its sustained value in pediatric pathology. Pediatric pathologists may need to address the centralization of services and training to preserve EM diagnostic proficiency among pathologists who perform ultrastructural interpretations.

"Looking for answers": Parent experiences of perinatal autopsy.

We aim to understand parents' experiences and satisfaction with perinatal autopsy. Seventeen participants whose babies had an autopsy within the past 3 years completed the survey and seven were interviewed. A mixed methods design was used. "Looking for Answers" was the overall parent perspective of seeking autopsy. Two categories with themes were identified: (1) Experiencing Loss (themes: Personal stories and Emotional responses) and (2) Interacting with the Health Care System (themes: Care received, Communication and Autopsy process). Satisfaction scores with autopsy process were positive; however, participants' stories revealed fragmented care and healthcare communications that contributed to dissatisfaction, complicated grief, and trauma.

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.

L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone with L1 syndrome and Hirschsprung disease.

Impaired Gut-Systemic Signaling Drives Total Parenteral Nutrition-Associated Injury.

BACKGROUND: Total parenteral nutrition (TPN) provides all nutritional needs intravenously. Although lifesaving, enthusiasm is significantly tempered due to side effects of liver and gut injury, as well as lack of mechanistic understanding into drivers of TPN injury. We hypothesized that the state of luminal nutritional deprivation with TPN drives alterations in gut-systemic signaling, contributing to injury, and tested this hypothesis using our ambulatory TPN model. METHODS: A total of 16 one-week-old piglets were allocated randomly to TPN (n = 8) or enteral nutrition (EN, n = 8) for 3 weeks. Liver, gut, and serum were analyzed. All tests were two-sided, with a significance level of 0.05. RESULTS: TPN resulted in significant hyperbilirubinemia and cholestatic liver injury, p = 0.034. Hepatic inflammation (cluster of differentiation 3 (CD3) immunohistochemistry) was higher with TPN (p = 0.021). No significant differences in alanine aminotransferase (ALT) or bile ductular proliferation were noted. TPN resulted in reduction of muscularis mucosa thickness and marked gut atrophy. Median and interquartile range for gut mass was 0.46 (0.30-0.58) g/cm in EN, and 0.19 (0.11-0.29) g/cm in TPN (p = 0.024). Key gut-systemic signaling regulators, liver farnesoid X receptor (FXR; p = 0.021), liver constitutive androstane receptor (CAR; p = 0.014), gut FXR (p = 0.028), G-coupled bile acid receptor (TGR5) (p = 0.003), epidermal growth factor (EGF; p = 0.016), organic anion transporter (OAT; p = 0.028), Mitogen-activated protein kinases-1 (MAPK1) (p = 0.037), and sodium uptake transporter sodium glucose-linked transporter (SGLT-1; p = 0.010) were significantly downregulated in TPN animals, whereas liver cholesterol 7 alpha-hydroxylase (CyP7A1) was substantially higher with TPN (p = 0.011). CONCLUSION: We report significant alterations in key hepatobiliary receptors driving gut-systemic signaling in a TPN piglet model. This presents a major advancement to our understanding of TPN-associated injury and suggests opportunities for strategic targeting of the gut-systemic axis, specifically, FXR, TGR5, and EGF in developing ameliorative strategies.

Synchronous Primary Central Nervous System and Pulmonary Lymphoma in a 7-Year-Old Female with Unspecified T-Cell Immunodeficiency.

Primary central nervous system lymphoma (PCNSL) is rare in children with immunocompromise as an important risk factor. A 7-year-old girl with unspecified T-cell immunodeficiency presented with left-sided weakness and was found to have a right-sided frontal lobe mass on imaging. The mass was resected; histopathology and molecular studies evidenced diffuse large B-cell lymphoma. Prior chest imaging had revealed left upper lobe mass, and repeat chest imaging revealed multiple pulmonary nodules, initially concerning for metastasis. Video-assisted thoracoscopic surgical wedge resection of the lung mass was performed; the molecular profile was distinct from the PCNSL, suggesting synchronous de novo lymphomagenesis of brain and pulmonary primaries.

Solitary Skeletal Muscle Metastasis as First Site of Recurrence of Cervical Cancer: A Case Report.

Cervical cancer is the fourth most common cancer in women worldwide, with a large majority of prevalence (85%) in developing countries. As of 2012, it accounts for 7.5% of all female cancer deaths. Despite its high prevalence, skeletal muscle metastasis from cervical cancer is extremely uncommon. In our extensive literature search, we were able to find only 8 cases where skeletal muscle metastasis was the only site of recurrence. We report a case of a 52-year-old African-American woman with a past medical history of cervical cancer (stage IIIB) who presented with pain and swelling in her left upper arm over the preceding 2 months. MRI of the left upper arm showed a solid well-circumscribed mass measuring 7.0 × 2.8 × 2.5 cm, deep to the biceps. Biopsy of the mass revealed a metastatic squamous cell carcinoma that was p16-positive. PET scan showed that the lesion was the sole site of metastasis. She received local radiation with concurrent chemotherapy. Follow-up MRI 6 months after the completion of therapy showed resolution of the mass. She has remained disease-free for the last 24 months as evidenced by a PET/CT scan in May 2016. In this case report, we discuss the role of imaging and pathology in the diagnosis of a solitary metastatic lesion. This case also emphasizes the importance of a close follow-up which aids in early intervention, increasing overall survival.