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Results for “evolvability”

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PubMed1978

A rapid radiometric technique used to trap and quantitate 14CO2 evolved by slow-growing microorganisms.

An apparatus to trap and quantitate 14CO2 is described. When used to measure antibiotic effects on Histoplasma capsulatum and Mycobacterium bovis (BCG), there was an inverse quantitative relationship between 14CO2 evolved and antibiotic concentration. The technique should prove useful for analyses that require trapping and quantitation of 14CO2, including antimicrobial sensitivities of slow-growing organisms.

Amphotericin B↗
PubMed2026

Enhancing detection of polygenic adaptation: a comparative study of machine learning and statistical approaches using simulated evolve-and-resequence data.

BACKGROUND: Detecting signals of polygenic adaptation remains a significant challenge in population genomics, as traditional methods often struggle to identify the associated subtle, multi-locus allele-frequency shifts. Here, we introduced and tested several novel approaches combining machine learning techniques with traditional statistical tests to detect polygenic adaptation patterns in time-series of allele frequency changes from whole genome data. We implemented a Naive Bayesian Classifier (NBC) and One-Class Support Vector Machines (OCSVM), and compared their performance against the classical Fisher's Exact Test (FET). Furthermore, we combined machine learning and statistical models (OCSVM-FET and NBC-FET), resulting in 5 competing approaches. The framework is mainly designed and validated for evolve-and-resequence (EaR) experimental designs, where defined selection pressures and temporal sampling are feasible, but might be applicable for certain natural experiments as well. RESULTS: Using a simulated dataset based on empirical C. riparius Pool-Seq data, we evaluated methods across evolutionary scenarios varying in generation, selection strength, and number of loci under selection. Our results demonstrate that the combined OCSVM-FET approach consistently outperformed competing methods, achieving the lowest false positive rate, highest area under the curve, and high accuracy. The performance peak aligned with what we term the 'late dynamic phase' of adaptation - the period after initial selection has occurred but before fixation - highlighting the method's sensitivity to ongoing selective processes. CONCLUSIONS: Furthermore, we emphasize the critical role of parameter tuning, balancing biological assumptions with methodological rigor. While broader applicability remains an important direction for future work, the present benchmarking is intentionally scoped to EaR experimental contexts.

Machine Learning↗
PubMed1979

Myelogenous leukemia evolving during the course of lymphoid malignancy in children.

Two children who presented initially with a lymphoid malignancy were noted to develop recurrences with myeloid features late in the course of their disease. In both cases, evidence of lymphoid differentiation was present in the myelogenous cells that were Ph1 chromosome negative. The first patient had acute myelogenous leukemia and developed a recurrence with morphologic features of acute myelogenous leukemia. Terminal transferase was present in the myelogenous blasts. The second patient initially had a diffuse lymphoblastic non-Hodgkin lymphoma. During the course of her illness she developed a myeloproliferative disorder characterized by basophilic meningitis, splenomegaly, and hypereosinophilia. Lymphocyte T-cell (E-rosette) markers were present on the eosinophils. These observations lend further support to the hypothesis of varying lymphoid and myeloid differentiation in certain cases of leukemia.

Child, Preschool↗
PubMed2026

Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.

Early infantile developmental and epileptic encephalopathy (EIDEE) is among the most severe epilepsy syndromes, with onset before three months of age and an estimated incidence of approximately 10 per 100,000 live births. The 2022 International League Against Epilepsy classification unified the historically distinct Ohtahara syndrome and early myoclonic encephalopathy under a single diagnostic framework defined by frequent drug-resistant tonic and/or myoclonic seizures, an abnormal neurological examination, and an abnormal interictal electroencephalogram-most characteristically a burst-suppression pattern. This narrative review synthesizes the clinical, electrophysiological, neuroimaging, genetic, and therapeutic literature within the EIDEE framework. The clinical phenotype is characterized by central hypotonia, postnatal microcephaly, cortical visual impairment, and age-dependent syndromic evolution toward infantile epileptic spasms syndrome or Lennox-Gastaut syndrome in the majority of patients. Electroencephalography remains essential for syndromic classification, while systematic metabolic screening and early trio whole-exome or whole-genome sequencing are central to the etiologic workup, achieving diagnostic yields of 60-65%. The most commonly identified genetic causes include STXBP1, KCNQ2, and SCN2A variants. Outcomes are poor overall and strongly etiology-dependent: vitamin-responsive disorders carry a substantially more favorable prognosis, whereas mortality reaches 25% in genetic cohorts. Genotype-guided pharmacotherapy is now applicable to a clinically meaningful subset of patients, with sodium channel blockers, potassium channel openers, and emerging antisense oligonucleotide therapies representing important therapeutic advances. Gene therapy trials are underway but have encountered early safety signals, underscoring the vulnerability of this population. Critical unmet needs include earlier molecular diagnosis, precision therapies targeting developmental outcomes beyond seizure control, and prospective international registries to characterize the long-term natural history of EIDEE.

Humans↗
PubMed2026

Spatial analysis reveals the evolving organization of IDH-mutant glioma.

Adult diffuse gliomas are composed of malignant cell states interwoven with the non-malignant brain microenvironment. Here, we combine spatial transcriptomics and spatial proteomics of isocitrate dehydrogenase (IDH)-mutant gliomas to define organizational principles across histological grades. In low-grade tumors, spatial organization is shaped by underlying brain anatomy. We identify a functional white-gray matter junction that restricts cortical invasion and is associated with marked changes in tumor composition and cellular phenotypes. This junction is preferentially traversed by oligodendrocyte progenitor (OPC)-like malignant cells, suggesting a role in tumor expansion. In contrast, tumors with intermediate histological features are largely disorganized, with few recurring interactions between cancer cell states and microenvironmental cell types. In high-grade tumors, hypoxia-associated structure emerges, resembling IDH-wild-type glioblastoma. Together, these findings reveal two independent axes of spatial organization-from anatomy-driven structure in low-grade tumors to hypoxia-driven organization in high-grade tumors-and establish a framework linking tumor grade to recurrent spatial interactions.

Isocitrate Dehydrogenase↗
PubMed2024

Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.

PURPOSE: Previous studies have established red flags that raise clinical suspicion for the hereditary form of transthyretin amyloidosis (ATTRv). However, these have not been specifically evaluated for the most common associated variant, TTR p.(Val142Ile). METHODS: Using an ancestrally diverse electronic health-record-linked biobank with exome sequence data from 27,630 unrelated adults, we evaluated 9 ATTRv-related clinical features among TTR p.(Val142Ile)-positive and -negative individuals. RESULTS: Among 337 variant-positive individuals (median age 63, 60% female), 10 (3.0%) were diagnosed with amyloidosis. TTR p.(Val142Ile) was associated with increased odds of cardiomyopathy/heart failure (CM/HF), atrial fibrillation, polyneuropathy, carpal tunnel syndrome, and proteinuria, but only in individuals ≥60 years. These features were evident 1.7 to 7.7 years earlier in variant-positive vs -negative individuals (hazard ratio [HR] 1.37, P = 3.99 × 10-2; HR 1.78, P = 2.52 × 10-3; HR 1.78, P = 1.70 × 10-3; HR 1.81, P = 5.14 × 10-3; HR 1.60, P = 1.94 × 10-2, respectively). By age 50, the cumulative incidence of CM/HF was 3.5-fold higher, and by age 60, the incidences of CM/HF, polyneuropathy, and proteinuria were 2-fold higher in variant-positive individuals. CONCLUSION: This study clarifies red flags that are associated with TTR p.(Val142Ile) in an age-dependent manner. With modifying therapies being available, early diagnosis of ATTRv in variant-positive individuals through the recognition of key clinical features is paramount.

Humans↗
PubMed2025

Evolving treatments and prognosis in Stage IV non-small cell lung cancer: 20 years of progress of novel therapies.

BACKGROUND: Advancements in pharmacotherapy, including molecular targeted therapies and immune checkpoint inhibitors, have revolutionized the treatment for Stage IV non-small cell lung cancer (NSCLC) over the past two decades. However, differences in drug approval timelines across countries raise important questions about their impact on survival rates. This study investigates trends in overall survival (OS), patient characteristics, and the association between OS improvements and the introduction of new drugs. PATIENTS AND METHODS: This retrospective review included patients with Stage IV NSCLC treated at the National Cancer Center Hospital in Japan from 2001 to 2021. Using data from the Department of Thoracic Oncology registries, 2,555 patients were identified and categorized into four time periods: 2001-2005 (Group A), 2006-2010 (Group B), 2011-2015 (Group C), and 2016-2021 (Group D). RESULTS: While baseline characteristics remained relatively consistent, Group D had an increased proportion of elderly patients (≥ 75 years) and those with brain metastases. Additionally, the gender ratio became more balanced over time. Notably, Group D patients with EGFR mutations or ALK fusion positivity and older age demonstrated significantly longer OS. Analysis revealed steady and substantial improvements in OS across time periods (median OS: Group A, 10.68 months; Group B, 14.12 months; Group C, 16.49 months; and Group D, 25.46 months, respectively). CONCLUSIONS: This study demonstrates marked improvements in survival for patients with Stage IV NSCLC, particularly in the last six years, despite the increase in brain metastases and elderly patients. This finding suggests the crucial role of novel therapies in enhancing survival outcomes.

Humans↗
PubMed1979

One-way maternal transport: an evolving concept. Inpatient services.

Transporting the high-risk pregnant woman to a tertiary center prior to labor or delivery, in an attempt to offer more intensive care to the patient and her infant, has gained increasing support from medical communities over the past few years. Because of this concept, tertiary centers need to be actively involved in the organization of these transport systems and to be certain that all members of the perinatal team at the referring as well as the receiving center are kept informed of events. This paper describes how Vanderbilt University Hospital initiated an acitive one-way maternal transport system and how that system is maintained and reviews the first 176 patients treated under that system. Establishing direct lines of communication between the practicing physician and the tertiary center and emphasizing continuing education at all levels seem to be important aspects in the development and maintenance of such a referral system.

Education, Continuing↗
PubMed2025

Candida auris outbreak in a cardiothoracic transplant intensive care unit: implications for infection prevention practices and keeping pace with an evolving landscape.

OBJECTIVE: To describe the mitigation strategies for a Candida auris outbreak in a cardiothoracic transplant intensive care unit (CTICU) and its implications for infection prevention practices. DESIGN: Retrospective cohort study from July 2023 to February 2024. SETTING: A large academic medical center. METHODS: A multidisciplinary team convened to conduct the outbreak investigation and develop mitigation strategies in the CTICU. RESULTS: From July 2023 to February 2024, 34 possible hospital-onset cases of C. auris were identified in our CTICU. Whole-genome sequencing and phylogenetic analysis based on pairwise single nucleotide polymorphism (WG-SNP) distance revealed two distinct outbreak clusters. Of the 34 patients, 11 (32.3%) were solid organ transplant recipients and 12 (35.3%) had a mechanical circulatory support device. Of the cohort, only 11/34 (32.3%) had prior exposure to high-risk healthcare facilities within six months prior to admission, as follows: acute inpatient rehabilitation facilities (AIRs) (n = 5, 14.7%), skilled nursing facilities (SNFs) (n = 3, 8.8%), and long-term acute care hospitals (LTACHs) (n = 3, 8.8%). The cohort had a median of 22.0 antibiotic-days prior to their positive results. Five (14.7%) patients had C. auris candidemia, three of whom expired likely due to infection. Infection Prevention (IP) interventions addressed several modes of transmission, including healthcare personnel hands, shared patient equipment, and the environment. CONCLUSION: Our experience suggests that the epidemiology of C. auris may be changing, pointing towards a rising prevalence in acute care settings. IP interventions targeting hand hygiene behavior and promoting centralizing cleaning and disinfection of shared patient equipment may have contributed to outbreak resolution.

Humans↗