Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects.

Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects.

VHA Practice Guideline Recommendations for Diffuse Gliomas.

Although histology still plays a critical role in diagnosing diffuse gliomas, additional ancillary testing is an essential tool for VA pathology laboratories.

Liposarcomatous differentiation in malignant phyllodes tumours is unassociated with MDM2 or CDK4 amplification.

Aims: Breast sarcomas are rare, usually occurring in the setting of malignant phyllodes tumour (MPT). Heterologous differentiation commonly resembles well-differentiated or pleomorphic liposarcoma. In extramammary sites, these subtypes have different biological behaviours and distinct genetic alterations: MDM2 and CDK4 amplification in well-differentiated liposarcoma, and polyploidy with complex structural rearrangements in pleomorphic liposarcoma.

A comparison of 2 evaporative cooling systems on a commercial dairy farm in Saudi Arabia.

Efficacy of 2 cooling systems (Korral Kool, KK, Korral Kool Inc., Mesa, AZ; FlipFan dairy system, FF, Schaefer Ventilation Equipment LLC, Sauk Rapids, MN) was estimated utilizing 400 multiparous Holstein dairy cows randomly assigned to 1 of 4 cooled California-style shade pens (2 shade pens per cooling system). Each shaded pen contained 100 cows (days in milk=58±39, milk production=56±18 kg/d, and lactation=3±1).

BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition.

Purpose: Recurrent "driver" mutations at specific loci in BRAF, NRAS, KIT, GNAQ, and GNA11 define clinically relevant molecular subsets of melanoma, but more than 30% are "pan-negative" for these recurrent mutations. We sought to identify additional potential drivers in "pan-negative" melanoma.

Experimental Design: Using a targeted next-generation sequencing (NGS) assay (FoundationOne™) and targeted RNA sequencing, we identified a novel PAPSS1-BRAF fusion in a "pan-negative" melanoma.