Achalasia is thought to be closely related to other motility disorders of the esophagus. In spite of this, transition between these disorders has rarely been documented. We present a patient who underwent a transition from a nonspecific motility disorder to achalasia. In addition there was return of peristalsis following a Heller myotomy.
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Brain
December 2024
Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2024
Department of General Surgery, Nujiang Prefecture People's Hospital, Nujiang, Yunnan, China.
Rationale: Low-grade appendiceal mucinous neoplasm (LAMN) is a clinically rare tumor that predominantly occurs in females and presents with nonspecific symptoms, often resulting in misdiagnosis. While postoperative pathology remains the gold standard for diagnosis, accurate preoperative identification through various diagnostic methods is essential for effective treatment planning. To raise awareness of this condition, we present a case of a middle-aged male diagnosed with LAMN.
View Article and Find Full Text PDFNeurobiol Dis
January 2025
National Tsing Hua University, Institute of Molecular and Cellular Biology, Department of Life Science, Hsinchu 30013, Taiwan, ROC. Electronic address:
Kinesin-3 KIF1A (UNC-104 in C. elegans) is the major axonal transporter of synaptic vesicles and mutations in this molecular motor are linked to KIF1A-associated neurological disorders (KAND), encompassing Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis and hereditary spastic paraplegia. UNC-104 binds to lipid bilayers of synaptic vesicles via its C-terminal PH (pleckstrin homology) domain.
View Article and Find Full Text PDFJ Immunother Cancer
December 2024
Division of Genetic Immunotherapy, Leibniz Institute for Immunotherapy, Regensburg, Germany
Background: The success of chimeric antigen receptor (CAR) T cell therapy for hematological malignancies has not yet translated into long-term elimination of solid tumors indicating the need for adequately tuning CAR T cell functionality.
Methods: We leveraged a translational pipeline including biophysical characterization and structural prediction of the CAR binding moiety, evaluation of cellular avidity, synapse formation, T cell motility, and functional capacities under repetitive target challenge and in sustained tumor control.
Results: As an example of clinical relevance, we derived a panel of anti-Her2 CARs covering a 4-log affinity range, all expected to target the same Her2 epitope.
Access Microbiol
November 2024
School of Biosciences, University of Birmingham, Birmingham, UK.
The use of membrane-specific dyes for fluorescent microscopy is commonplace. However, most of these reagents are non-specific and cannot track specific lipid species movement, instead often acting as non-covalent lipid-associated probes or requiring the uptake of whole lipids and acyl tails into the membrane. This issue has been solved in eukaryotic cell biology by the use of click-chemistry-liable phospholipid headgroup pulse labels.
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