A 72-year-old woman with dysphagia was diagnosed with lung adenocarcinoma and metastatic meningeal tumour that impaired the medulla. Owing to a bulky tumour beside the medulla, radiosurgical control of the meningeal tumour was achieved before systemic therapy. Genomic examination of the tumour revealed an existing epidermal growth factor receptor (EGFR) exon 19 deletion, for which an EGFR tyrosine kinase inhibitor such as gefitinib was the standard therapy. However, because of dysphagia, the patient was unable to orally ingest gefitinib. Gefitinib was delivered via gastrostomy tube as a suspension after spontaneous dissolution in hot water. One month later, the patient's symptoms, including dysphagia, were drastically improved and she had recovered sufficiently to orally ingest gefitinib. Gefitinib-associated toxicity comprises only mild liver dysfunction and skin rash. CT scanning and MRI detected drastic shrinkage of the primary lung and meningeal tumours. The patient continued to take gefitinib and has remained symptom-free for 9 months.
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http://dx.doi.org/10.1136/bcr-2013-202705 | DOI Listing |
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFBr J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFCrit Care Med
January 2025
Cancer Prognostics and Health Outcomes Unit, Division of Urology, University of Montréal Health Center, Montréal, QC, Canada.
Objectives: To examine critical care therapy rates after cytoreductive nephrectomy in metastatic kidney cancer patients.
Design, Setting, And Patients: Relying on the National Inpatient Sample (2000-2019), we addressed critical care therapy use (total parenteral nutrition, invasive mechanical ventilation, renal replacement therapy, percutaneous endoscopic gastrostomy tube insertion, and tracheostomy) and in-hospital mortality in surgically treated metastatic kidney cancer patients. Estimated annual percentage changes and multivariable logistic regression models were fitted.
Sci Rep
January 2025
Cancer Prognostics and Health Outcomes Unit, Division of Urology, University of Montréal Health Center, Montréal, QC, Canada.
To test for rates of inpatient palliative care (IPC) in metastatic testicular cancer patients receiving critical care therapy (CCT). Within the Nationwide Inpatient Sample (NIS) database (2008-2019), we tabulated IPC rates in metastatic testicular cancer patients receiving CCT, namely invasive mechanical ventilation (IMV), percutaneous endoscopic gastrostomy tube (PEG), dialysis for acute kidney failure (AKF), total parenteral nutrition (TPN) or tracheostomy. Univariable and multivariable logistic regression models addressing IPC were fitted.
View Article and Find Full Text PDFAm J Perinatol
January 2025
Pediatrics, Children's Hospital of Michigan, Detroit, United States.
Objective: To describe feeding outcomes in neonates with hypoxic-ischemic encephalopathy (HIE) and compare characteristics and outcomes in groups discharged home on oral, total/partial nasogastric, and gastrostomy-tube feedings.
Methods: This was a retrospective, single-center cohort study of infants diagnosed with moderate or severe HIE using standard criteria who underwent cooling from January 2017 to June 2022. Data were abstracted from hospital course as well as until 6 months follow-up.
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