Continuous noninvasive ventilatory support (CNVS) and mechanical insufflation-exsufflation have been used since 1953 to spare patients with ventilatory pump failure from ever-requiring tracheostomy tubes for ventilatory support or secretion management. Today there are patients with spinal muscular atrophy type 1 who are 25 yrs old and CNVS dependent since 4 months or age, postpolio survivors CNVS dependent for 64 yrs, Duchenne muscular dystrophy patients over age 45 CNVS dependent for over 25 yrs, high-level spinal cord injured patients CNVS dependent for over 20 yrs, and even lung disease patients dependent on CNVS. All these patients, although unweanable from ventilatory support and with little or no measurable vital capacity, can also be extubated to CNVS and mechanical insufflation-exsufflation when necessary to continue CNVS. No patients want tracheostomy tubes. However, for various reasons, this is not cited in academic society expert guidelines. This article considers the extent of the damage being caused by this.
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http://dx.doi.org/10.1097/PHM.0000000000001172 | DOI Listing |
Genome Med
January 2025
Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, 03756, USA.
Background: Central nervous system tumors are among the most lethal types of cancer. A critical factor for tailored neurosurgical resection strategies depends on specific tumor types. However, it is uncommon to have a preoperative tumor diagnosis, and intraoperative morphology-based diagnosis remains challenging.
View Article and Find Full Text PDFCancer Cell Int
January 2025
Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Background: The prognosis of a plasma cell neoplasm (PCN) varies depending on the presence of genetic abnormalities. However, detecting sensitive genetic mutations poses challenges due to the heterogeneous nature of the cell population in bone marrow aspiration. The established gold standard for cell sorting is fluorescence-activated cell sorting (FACS), which is associated with lengthy processing times, substantial cell quantities, and expensive equipment.
View Article and Find Full Text PDFEndocr J
December 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Over 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated. Furthermore, although PHEX undergoes X chromosome inactivation (XCI), the association between XLH in women with heterozygous PHEX variants and skewed XCI remains unknown.
View Article and Find Full Text PDFMol Cytogenet
December 2024
Dipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a de novo ring chromosome 18, diagnosed by karyotype analysis and confirmed by high-resolution SNP arrays. The patient exhibited pathogenic copy number variants (CNVs) in the 18p11.
View Article and Find Full Text PDFGene
February 2025
Department of Molecular Biology and Genetics, Faculty of Science and Letters, Başkent University, Ankara, Turkey. Electronic address:
Elimination of cytotoxic effect in cells with multidrug resistance (MDR) phenotype is a situation that is gradually acquired over time and develops through multiple pathways resulting in global phenotypic changes of cells. Although molecular background of the resistance phenotype has widely been studied in the gene expression level, segmental and gene copy number variations (CNVs) have limitedly been documented. Thus, in the present study, we aimed to analyze the CNVs using DNA microarray in the sensitive and two doxorubicin-resistant MCF-7 breast cancer cell lines which had different resistance indices.
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