Progress and Gaps in Respiratory Disease Research and Treatment: Highlights of the IRM 2024 in Shanghai.

Respiratory diseases pose a major public health challenge globally, necessitating collaborative efforts between basic researchers and clinicians for effective solutions. China, which is heavily impacted by a broad spectrum of respiratory disorders, has made notable strides in both research and clinical management of these diseases. The International Respiratory Medicine (IRM) meeting was organized with the primary goal of facilitating the exchange of recent research developments and promoting collaboration between Chinese and American scientists in both basic and clinical research fields.

Novel structural variants that impact cell cycle genes are elucidated in metastatic gastrointestinal stromal tumors.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasm of the digestive tract. Despite multiple therapeutic advances, patients with advanced disease frequently develop resistance to tyrosine kinase inhibitors (TKIs), and therefore represent a therapeutic challenge. We employed whole genome sequencing (WGS) on three metastatic GISTs refractory to various TKIs and explored a publicly available cohort of 499 GISTs.

Patterns of reconstruction following margin-controlled surgery for melanoma of the lentigo maligna type of the head and neck.

Melanoma of the lentigo maligna (LM) type is most commonly located on the head and neck region. This subtype of melanoma poses surgical challenges due to its location on anatomically sensitive areas and frequent presence of subclinical extension. To analyze the reconstruction patterns of LM patients undergoing margin-controlled surgery.

Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.

Endocrinopathies are frequently the initial presentation of histiocytic neoplasms, which are rare hematologic disorders affecting multiple organ systems. Langerhans cell histiocytosis and Erdheim-Chester disease are 2 such disorders known to infiltrate the hypothalamus and/or pituitary gland, leading to arginine vasopressin deficiency (AVP-D) and anterior pituitary dysfunction (APD) in 20% to 30% of cases, often as the first manifestation. Conversely, histiocytic disorders account for a notable proportion (10-15%) of all pituitary stalk lesions.

Sex Differences and Extracorporeal Shockwave Therapy Outcomes in Runners with Achilles or Hamstring Tendinopathy.

: Achilles and hamstring tendinopathies are common injuries in runners, and extracorporeal shockwave therapy (ESWT) may be an effective treatment. Runners are at risk for lower extremity tendinopathies and the Male and Female Athlete Triad (Triad). The purpose of this study is to evaluate the association of sex, exposure to hormonal contraceptives, menopause, and Triad-related risk factors with ESWT outcomes in the treatment of Achilles and hamstring tendinopathy.

Influence of coronal lumbar Cobb angle and surgical level on short-segment lumbar surgery outcomes in degenerative scoliosis.

Purpose: This study investigates the relationship between surgical levels and coronal deformity to identify risk factors for failing to achieve a minimal clinically important difference (MCID) in the Oswestry Disability Index (ODI) following short-segment isolated decompression or fusion surgery in patients with degenerative scoliosis (DS) and concurrent lumbar canal stenosis (LCS), without severe sagittal deformity malalignment.

Methods: Patients with degenerative scoliosis who underwent 1- or 2-level lumbar isolated decompression or fusion surgery were included. Surgical level was labeled as "Cobb-related" when decompression or surgical levels spanned or were between end vertebrae, and "outside" when the operative levels did not include the end vertebrae.

Conserved roles of engrailed: patterning tissues and specifying cell types.

More than 40 years ago, studies of the Drosophila engrailed and Hox genes led to major discoveries that shaped the history of developmental biology. We learned that these genes define the state of determination of cells that populate particular spatially defined regions: the identity of segmental domains by Hox genes, and the identity of posterior developmental compartments by engrailed. Hence, the boundaries that delimit spatial domains depend on engrailed.

Myopericytoma of the hand.

Myopericytoma is a rare benign smooth-muscle cell neoplasm of the subcutaneous soft tissues that is primarily found in young adults with a male predominance. We present the clinical, radiologic, and histopathologic features of a longstanding myopericytoma of the hand. We emphasize the features that help the radiologist and pathologist to accurately characterize this entity.

Meiotic DNA break resection and recombination rely on chromatin remodeler Fun30.

DNA double-strand breaks (DSBs) are nucleolytically processed to generate single-stranded DNA for homologous recombination. In Saccharomyces cerevisiae meiosis, this resection involves nicking by the Mre11-Rad50-Xrs2 complex (MRX), then exonucleolytic digestion by Exo1. Chromatin remodeling at meiotic DSBs is thought necessary for resection, but the remodeling enzyme was unknown.

Sugar phosphate-mediated inhibition of peptidoglycan precursor synthesis.

Antibiotic tolerance, the widespread ability of diverse pathogenic bacteria to sustain viability in the presence of typically bactericidal antibiotics for extended time periods, is an understudied steppingstone towards antibiotic resistance. The Gram-negative pathogen , the causative agent of cholera, is highly tolerant to β-lactam antibiotics. We previously found that the disruption of glycolysis, via deletion of (, glucose-6-phosphate isomerase), resulted in significant cell wall damage and increased sensitivity towards β-lactam antibiotics.

Suppression by RNA Polymerase I Inhibitors Varies Greatly Between Distinct RNA Polymerase I Transcribed Genes in Malaria Parasites.

The transcription of ribosomal RNA (rRNA) by RNA Polymerase I (Pol I) is the rate-limiting step in ribosome biogenesis and a major determinant of cellular growth rates. Unlike other eukaryotes, which express identical rRNA from large tandem arrays of dozens to hundreds of identical rRNA genes in every cell, the genome of the human malaria parasite contains only a handful single-copy 47S rRNA loci that differ substantially from one another in length, sequence, and expression in different cell types. We found that the growth of the malaria parasite was acutely sensitive to the Pol I inhibitors 9-hydroxyellipticine and BMH-21 and demonstrated that they greatly reduce the transcription of 47S rRNAs as well as the transcription of other non-coding RNA genes.

Design, Testing, and Validation of a Soft Robotic Sensor Array Integrated with Flexible Electronics for Mapping Cardiac Arrhythmias.

Cardiac mapping is a crucial procedure for diagnosing and treating cardiac arrhythmias. Still, current clinical techniques face limitations including insufficient electrode coverage, poor conformability to complex heart chamber geometries, and high costs. This study explores the design, testing, and validation of a 64-electrode soft robotic catheter that addresses these challenges in cardiac mapping.

Proceedings of the Conference "CMV Vaccine Development-How Close Are We?" (27-28 September 2023).

Congenital cytomegalovirus (cCMV) is the most common infectious cause of disability in children, including sensorineural hearing loss. There is interest in developing a pre-conception vaccine that could confer protective immunity on a woman of child-bearing age, hence resulting in a reduced cCMV disease burden. Other populations, including solid organ transplant (SOT) and hematopoietic stem cell transplant (HSCT) patients, could also benefit from CMV vaccination.

A Murine Model of Non-Wear-Particle-Induced Aseptic Loosening.

Background: The current murine models of peri-implant osseointegration failure are associated with wear particles. However, the current clinical osseointegration failure is not associated with wear particles. Here, we develop a murine model of osseointegration failure not associated with wear particles and validate it by comparing the cellular composition of interfacial tissues with human samples collected during total joint arthroplasty revision for aseptic loosening.

The Decision for Amputation Versus Limb Salvage in Patients with Limb-threatening Lower Extremity Indications: An Ethical Analysis.

Ethical decision-making in the amputation versus limb salvage context requires consideration of respect for patient autonomy, beneficence, and nonmaleficence. The surgical options demonstrate near equivalent outcomes for traumatic indications, while reconstruction is generally favored for threatened limbs due to diabetic complications. The decision for amputation versus limb salvage must be considered in each individual patient's situation, with a shared decision-making process of paramount importance.

Nutrient control of growth and metabolism through mTORC1 regulation of mRNA splicing.

Cellular growth and organismal development are remarkably complex processes that require the nutrient-responsive kinase mechanistic target of rapamycin complex 1 (mTORC1). Anticipating that important mTORC1 functions remained to be identified, we employed genetic and bioinformatic screening in C. elegans to uncover mechanisms of mTORC1 action.