Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.

Musician's Experience After Breast Cancer Treatment: Defining Musical Toxicity and its Frequency.

Purpose: Over 50% of households in the United States have at least one musician-many musicians are also breast cancer survivors. This group has not been well studied, and given the level of fine sensory-motor skill required for musicianship, we hypothesized that musicians experience unique manifestations of breast cancer treatment toxicities.

Methods: A nine-item Musical Toxicity Questionnaire (MTQ) was distributed to patients who had consented to participate in the Mayo Clinic Breast Cancer Registry.

A scoping review to examine health care professionals' experiences as family caregivers.

Background: Health and social care systems must confront the challenge of supporting a growing elderly population and their caregivers. Family caregivers who are healthcare professionals are part of this context, but their caregiving experiences remain unclear.

Objective: This scoping review explored the experiences of healthcare professionals who are also family caregivers for older adults.

Microglia Morphology in the Developing Primate Amygdala and Effects of Early Life Stress.

A unique pool of immature glutamatergic neurons in the primate amygdala, known as the paralaminar nucleus (PL), are maturing between infancy and adolescence. The PL is a potential substrate for the steep growth curve of amygdala volume during this developmental period. A microglial component is also embedded among the PL neurons and likely supports local neuronal maturation and emerging synaptogenesis.

Geospatial patterns by cancer stage across Australia for three common cancers.

Background: Monitoring cancer stage is vital to interpret cancer incidence and survival patterns, yet there are currently no cancer stage estimates by small areas across Australia, despite demonstrated large disparities in cancer incidence and survival. While cancer stage data is not routinely collected in Australia, a pilot project collected stage information nationwide in 2011.

Methods: Data on all primary invasive melanoma, female breast and prostate cancers (stages 1-4) diagnosed during 2011 in Australia were categorised into early and intermediate/advanced stage at diagnosis.