Malignant rhabdoid tumor of the orbit in an infant.

We present the case of an infant with rapidly progressing orbital tumor that had initial radiological and clinical features of both rhabdomyosarcoma and capillary hemangioma. The patient was eventually diagnosed with malignant rhabdoid tumor of the orbit. We discuss the salient histological and radiological features of our case and review the literature on orbital malignant rhabdoid tumors.

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increased levels of IFN-stimulated genes (ISGs) were described in COPA syndrome. However, the link between COPA mutations and IFN signaling is unknown.

Health and wellbeing of people with intellectual disability in New South Wales, Australia: a data linkage cohort.

Purpose: People with intellectual disability (ID) experience high rates of physical and mental health problems, while access to appropriate healthcare is often poor. This cohort was established to develop an epidemiological profile related to the health, health service use, disability services, mortality and corrective services records of people with ID.

Participants: The cohort contains 92 542 people with ID (40% females) with a median age of 23 years (IQR: 12-43 years) and 2 004 475 people with a neuropsychiatric or developmental disorder diagnosis (50% females) with a median age of 51 years (IQR: 29-73 years) from New South Wales, Australia.

In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.

Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and nonmelanocytic central nervous system (CNS) lesions.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been identified as the cause of Miller (Genée-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750). We report compound heterozygous DHODH mutations in four additional families with typical Miller syndrome. Complementation in auxotrophic yeast demonstrated reduced pyrimidine synthesis and in vitro enzymatic analysis confirmed reduced DHOdehase activity in 11 disease-associated missense mutations, with 7 alleles showing discrepant activity between the assays.

Effectiveness of a multidisciplinary chronic pain program for treatment of refractory patients with complicated chronic pain syndromes.

Background: Interventional pain physicians commonly encounter patients with a treatment refractory "chronic pain syndrome". Such patients have a chronically painful medical disorder that is complicated by a number of psychosocial factors, including psychiatric and substance use disorders, physical deconditioning, dependency upon the healthcare system, and perceived impairments that are out of proportion to objective medical findings.

Objective: The objective of the following study was to determine the effectiveness of a multidisciplinary chronic pain program for adult patients with treatment refractory chronic pain syndromes.

Ten years of neonatal autopsies in tertiary referral centre: retrospective study.

Objectives: To measure the neonatal autopsy rate at a tertiary referral centre and identify trends over the past decade. To identify factors that may influence the likelihood of consent being given for autopsy. To examine any discordance between diagnoses before death and at autopsy.