Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo +12 more
core +2 more sources
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
New myxobacteria of the Myxococcaceae clade produce angiolams with antiparasitic activities
In the past century, microbial natural products have proven themselves to be substantial and fruitful sources of anti-infectives. In addition to the well-studied Actinobacteria, understudied bacterial taxa like the Gram-negative myxobacteria have ...
Sebastian Walesch +8 more
doaj +1 more source
Analysis of the acoustic cut-off frequency and HIPs in six Kepler stars with stochastically excited pulsations [PDF]
Gravito-acoustic modes in the Sun and other stars propagate in resonant cavities with a frequency below a given limit known as the cut-off frequency. At higher frequencies, waves are no longer trapped in the stellar interior and become traveller waves ...
Garcia, R. A. +3 more
core +4 more sources
The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness
ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms.
Melody T. Asukile +3 more
wiley +1 more source
Tandem ketone reduction in pepstatin biosynthesis reveals an F420H2–dependent statine pathway
Pepstatins are potent inhibitors of aspartic proteases, featuring two statine residues crucial for target binding. However, the biosynthesis of pepstatins, especially their statine substructure, remains elusive.
Jingjun Mo +7 more
doaj +1 more source
Necrosis isquémica después de reducción cerrada en displasia del desarrollo de la cadera [PDF]
Se presenta una revisión retrospectiva de 81 pacientes con 121 caderas con displasia del desarrollo tratados mediante reducción cerrada, miotomía de los aductores, tenotomía del psoas e inmovilización en una espica de yeso sin tracción previa a la ...
Cassis Z., Nelson, Castro, S.
core
Acoustic power absorption and enhancement generated by slow and fast MHD waves
We used long duration, high quality, unresolved (Sun-as-a star) observations collected by the ground based network BiSON and by the instruments GOLF and VIRGO on board the ESA/NASA SOHO satellite to search for solar-cycle-related changes in mode ...
Elsworth, Y. +6 more
core +3 more sources
Two-Directional Arthrographic Assessment for Treating Bilateral Development Dislocation of the Hips in Children after Walking Age [PDF]
We reviewed the treatment outcome in 14 hips of 7 patients who were diagnosed as having bilateral developmental dislocation of the hip (DDH) after walking age and could be followed up until they were at least 14 years of age.
Akazawa, Hirofumi +5 more
core +1 more source

