The Hyperdense Right Hemidiaphragm Sign: A Novel Radiological Indicator of Diffuse Fatty Liver Infiltration on Non-Enhanced CT.

Objectives The primary objective of this study is to describe and evaluate the diagnostic performance of the hyperdense right hemidiaphragm sign (HRHS) as a novel radiological indicator for diffuse fatty infiltration of the liver on non-enhanced CT (NECT) scans. This includes assessing its sensitivity, specificity, positive predictive value, and negative predictive value, and comparing these metrics with other established NECT signs. Methods This cross-sectional multicenter retrospective study included all patients over 12 years of age who underwent both abdominal MRI and NECT scans of the abdomen within a period not exceeding six months at two tertiary hospitals (The Royal Hospital and Armed Forces Hospital, Muscat, Sultanate of Oman) between January 2010 and December 2022.

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.

The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Pathogenic variants in EXOSC genes, which encode structural subunits of this complex, are linked to several autosomal recessive disorders. Here, we describe a missense allele of the EXOSC4 gene that causes a collection of clinical features in two affected siblings.