Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia dolosa within individuals with cystic fibrosis by resequencing individual colonies and whole populations from single sputum samples. We find extensive intrasample diversity, suggesting that mutations rarely fix in a patient's pathogen population--instead, diversifying lineages coexist for many years. Under strong selection, multiple adaptive mutations arise, but none of these sweep to fixation, generating lasting allele diversity that provides a recorded signature of past selection. Genes involved in outer-membrane components, iron scavenging and antibiotic resistance all showed this signature of within-patient selection. These results offer a general and rapid approach for identifying the selective pressures acting on a pathogen in individual patients based on single clinical samples.
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http://dx.doi.org/10.1038/ng.2848 | DOI Listing |
Childs Nerv Syst
January 2025
Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure.
Methods: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old.
Results: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries.
Background: Studies showed significant physical improvement after starting elexacaftor/tezacaftor/ivacaftor (ETI). However, some patients reported new mental health symptoms.
Aim: This study explores the impact of ETI on end-stage cystic fibrosis patients, focusing on mental health.
Pathologica
October 2024
Pancreatic and Digestive Endocrine Surgical Research Group, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
An asymptomatic 79-year old woman presented with a 40 mm pancreatic cystic lesion, located in the pancreatic body-tail and consistent with branch-duct intraductal papillary mucinous neoplasm (BD-IPMN) without "high risk stigmata". During a 4-year follow-up period, imaging showed no mural nodules or main pancreatic duct dilation, and serum CEA and CA19.9 were within normal range.
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January 2025
Department of Surgery, Trinity St. James's Cancer Institute, Trinity Translational Medicine Institute, Trinity College Dublin, St. James's Hospital, Dublin 8, Ireland.
Integration of multi-omic data for the purposes of biomarker discovery can provide novel and robust panels across multiple biological compartments. Appropriate analytical methods are key to ensuring accurate and meaningful outputs in the multi-omic setting. Here, we extensively profile the proteome and transcriptome of patient pancreatic cyst fluid (PCF) (n = 32) and serum (n = 68), before integrating matched omic and biofluid data, to identify biomarkers of pancreatic cancer risk.
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January 2025
CEINGE-Biotecnologie avanzate Franco Salvatore, Via G. Salvatore 486, Naples, 80145, Italy.
The development of targeted therapies that correct the effect of mutations in patients with cystic fibrosis (CF) and the relevant heterogeneity of the clinical expression of the disease require biomarkers correlated to the severity of the disease useful for monitoring the therapeutic effects. We applied a targeted metabolomic approach by LC-MS/MS on saliva samples from 70 adult CF patients and 63 age/sex-matched controls to investigate alterations in metabolic pathways related to pancreatic insufficiency (PI), Pseudomonas aeruginosa (PA) colonization, CF liver disease (CFLD), and CF related diabetes (CFRD). Sixty salivary metabolites were differentially expressed, with 11 being less abundant and 49 more abundant in CF patients.
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