Eating disorders: clinical update.

Variation exists in our attitude and behaviour towards food and exercise, resulting in different degrees of health and ill health. Cultural and economic factors contribute to this, alongside personal choices, leading to a spectrum from normative eating, through disordered eating to the extremes of eating disorders (EDs). Understanding the intricate interplay between biological, psychological, and sociocultural factors to eating, exercise and body image is paramount to understand the current state regarding EDs and to deliver/develop multifaceted and individualised treatments.

Friedreich ataxia: what can we learn from non-GAA repeat mutations?

Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

The textures of sarcoidosis: quantifying lung disease through variograms.

. Sarcoidosis is a granulomatous disease affecting the lungs in over 90% of patients. Qualitative assessment of chest CT by radiologists is standard clinical practice and reliable quantification of disease from CT would support ongoing efforts to identify sarcoidosis phenotypes.

Optimizing prone CT use for suspected interstitial lung abnormalities.

Objectives: We investigated whether supine chest CT alone suffices for diagnosing ILAs, thereby reducing the need for prone chest CT.

Materials And Methods: Patients who underwent prone chest CT for suspected ILAs from January 2021 to July 2023, with matching supine CT within 1 year, were retrospectively evaluated. Five multinational thoracic radiologists independently rated ILA suspicion and fibrosis scores (1 to 5-point) and ILA extent (1-100%) using supine CT first, then combined supine-prone CT after a 1-month washout.