IDH

Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (H3/IDH-wt-pHGG) is a newly defined entity amongst brain tumours, primarily reported in children. It is a rare, ill-defined type of tumour and the only method to diagnose it is DNA methylation profiling. The case we report here carries new knowledge about this tumour which may, in fact, occur in elderly patients, be devoid of evocative genomic abnormalities reported in children and harbour a misleading mutation.

Glioblastoma is the most common malignant primary tumor of the CNS. The prognosis is dismal, with a median survival of 15 months. Surgical treatment followed by adjuvant therapies such as radiotherapy and chemotherapy characterize the classical strategy. The WNT pathway plays a key role in cellular proliferation, differentiation, and invasion. The DKK3 protein, capable of acting as a tumor suppressor, also appears to be able to modulate the WNT pathway. We performed, in a series of 40 patients, immunohistochemical and Western blot evaluations of DKK3 to better understand how the expression of this protein can influence clinical behavior...

Published models inconsistently associate glioblastoma size with overall survival (OS). This study aimed to investigate the prognostic effect of tumour size in a large cohort of patients diagnosed with GBM and interrogate how sample size and non-linear transformations may impact on the likelihood of finding a prognostic effect. In total, 279 patients with a IDH-wildtype unifocal WHO grade 4 GBM between 2014 and 2020 from a retrospective cohort were included. Uni-/multivariable association between core volume, whole volume (CV and WV), and diameter with OS was assessed with (1) Cox proportional hazard models +/- log transformation and (2) resampling with 1,000,000 repetitions and varying sample size to identify the percentage of models, which showed a significant effect of tumour size...

BACKGROUND: Legionella pneumophila can cause severe respiratory disease and is notifiable in NSW. An analysis of notifications linked to hospitalisation and death data over the period 2010-2022 was conducted to determine the burden of disease and any association with the introduction of NSW regulatory changes in 2018. METHODS: Cases were retrospectively identified from the Notifiable Conditions Records for Epidemiology and Surveillance (NCRES). Data on related morbidity and mortality were obtained from linked data within the NSW Communicable Disease Register (CDR)...

BACKGROUND: A rapid large-scale evaluation of a newly available duckbill style P2/N95 respirator, the Care Essentials (CE) MSK-003, was required to determine its suitability for deployment into the Victorian healthcare service. The aims of this study were to assess the feasibility of establishing a rapid, multi-organisational and multi-modal evaluation of the respirator, and to investigate whether this respirator would meet the needs of healthcare workers. METHODS: The evaluation was a collaboration among three healthcare organisations - two tertiary hospitals in metropolitan Melbourne and a rural-based hospital...

BACKGROUND: The prevalence of hypertension in Peru has increased over the years. Approximately one third of the Peruvian population lives at high altitudes. This population presents particular physiological, genetic and environmental characteristics that could be related to the prevalence of hypertension and its subtypes. OBJECTIVE: To assess the association between altitude and hypertension in the Peruvian population through an analysis of a nationally representative survey...

BACKGROUND: The prognosis of high or markedly low diastolic blood pressure (DBP) with normalized on-treatment systolic blood pressure on major adverse cardiovascular events (MACEs) is uncertain. This study examined whether treated isolated diastolic hypertension (IDH) and treated isolated low DBP (ILDBP) were associated with MACEs in patients with hypertension. METHODS AND RESULTS: A total of 7582 patients with on-treatment systolic blood pressure <130 mm Hg from SPRINT (Systolic Blood Pressure Intervention Trial) were categorized on the basis of average DBP: <60 mm Hg (n=1031; treated ILDBP), 60 to 79 mm Hg (n=5432), ≥80 mm Hg (n=1119; treated IDH)...

OBJECTIVES: To investigate the effects of a smartphone-based oral and whole-body exercise programme on oral function in older adults. METHODS: Individuals aged 65 years or above were randomized into three groups (non-app use, app use and control group), and a combined oral and whole-body exercise programme was conducted for 5 weeks. Oral muscle strength, saliva flow rate, Oral Health Impact Profile-14 (OHIP-14), and Geriatric Oral Health Assessment Index (GOHAI) were measured before and after the intervention...

OBJECTIVES: To investigate the association between the individuals' level of sense of coherence (SOC) and periodontal disease severity. METHODS: The study populations originated from two stratified cross-sectional random samples of residents in a medium-sized Swedish city in 2003 and 2013, respectively. The final samples constituted 491 individuals in 2003 and 538 individuals in 2013. The samples were classified into three groups according to the severity of periodontitis (no/minor, moderate and severe)...

EGFR amplification in gliomas is commonly defined by an EGFR/CEP7 ratio of ≥2. In testing performed at a major reference laboratory, a small subset of patients had ≥5 copies of both EGFR and CEP7 yet were not amplified by the EGFR/CEP7 ratio and were designated high polysomy cases. To determine whether these tumors are more closely related to traditionally defined EGFR-amplified or nonamplified gliomas, a retrospective search identified 22 out of 1143 (1.9%) gliomas with an average of ≥5 copies/cell of EGFR and CEP7 with an EGFR/CEP7 ratio of <2 displaying high polysomy...

Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 tumor suppressor gene. Central nervous system tumors, such as choroid plexus tumors, medulloblastomas, and diffuse gliomas, are frequently found in patients with LFS. Although molecular profiles of diffuse gliomas that develop in pediatric patients with LFS have been elucidated, those in adults are limited. Recently, diffuse gliomas have been divided into pediatric- and adult-type gliomas, based on their distinct molecular profiles...

BACKGROUND: Considering no previous research into the utilization of ascending/descending ultrafiltration and linear sodium profiles in improving blood pressure among hemodialysis patients, the present study aimed to explore the effect of the A/D-UF along with linear sodium profiles on HD patients with hypotension. METHODS: Applying a crossover design, this clinical trial was fulfilled between December 2022 and June 2023 on 20 patients undergoing HD, randomized into two groups, each one receiving two intervention protocols, viz...

The emergence of next generation sequencing and widespread use of mutational profiling in acute myeloid leukemia (AML) has broadened our understanding of the heterogeneous molecular basis of the disease. Since genetic sequencing has become a standard practice, several driver mutations have been identified. Accordingly, novel targeted therapeutic agents have been developed and are now approved for the treatment of subsets of patients that carry mutations in FLT3, IDH1, and IDH2 [1, 2]. The emergence of these novel agents in AML offers patients a new modality of therapy, and shifts treatment paradigms toward individualized medicine...

BACKGROUND: This study investigates the influence of diffusion-weighted Magnetic Resonance Imaging (DWI-MRI) on radiomic-based prediction of glioma types according to molecular status and assesses the impact of DWI intensity normalization on model generalizability. METHODS: Radiomic features, compliant with image biomarker standardization initiative standards, were extracted from preoperative MRI of 549 patients with diffuse glioma, known IDH, and 1p19q-status. Anatomical sequences (T1, T1c, T2, FLAIR) underwent N4-Bias Field Correction (N4) and WhiteStripe normalization (N4/WS)...

BACKGROUND: Outcomes for children with high-grade gliomas (HGG) remain poor. This multicenter phase II trial evaluated whether concurrent use of vorinostat or bevacizumab with focal radiotherapy (RT) improved 1-year event-free survival (EFS) compared to temozolomide in children with newly diagnosed HGG who received maintenance temozolomide and bevacizumab. METHODS: Patients ≥ 3 and < 22 years with localized, non-brainstem HGG were randomized to receive RT (dose 54-59...

N5-methylcytosine (m5 C) methylation modification plays a crucial role in the epigenetic mechanisms underlying tumorigenesis, aggressiveness, and malignancy in diffuse glioma. Our study aimed to develop a novel prognostic risk-scoring system to assess the impact of m5 C modification in glioma patients. Initially, we identified two distinct m5 C clusters based on the expression level of m5 C regulators in The Cancer Genome Atlas glioblastoma (TCGA-GBM) dataset. Differentially expressed genes (DEGs) between the two m5 C cluster groups were determined...

BACKGROUND: The 2021 World Health Organization Classification of Central Nervous System Tumors updates glioma subtyping and grading system, and incorporates EGFR amplification (Amp) as one of diagnostic markers for glioblastoma (GBM). PURPOSE: This study aimed to describe the frequency, clinical value and molecular correlation of EGFR Amp in diffuse gliomas based on the latest classification. METHODS: We reviewed glioma patients between 2011 and 2022 at our hospital, and included 187 adult glioma patients with available tumor tissue for detection of EGFR Amp and other 59 molecular markers of interest...

Acute myeloid leukemia (AML) is characterized by uncontrolled proliferation of poorly differentiated myeloid cells, with a heterogenous mutational landscape. Mutations in IDH1 and IDH2 are found in 20% of the AML cases. Although much effort has been made to identify genes associated with leukemogenesis, the regulatory mechanism of AML state transition is still not fully understood. To alleviate this issue, here we develop a new computational approach that integrates genomic data from diverse sources, including gene expression and ATAC-seq datasets, curated gene regulatory interaction databases, and mathematical modeling to establish models of context-specific core gene regulatory networks (GRNs) for a mechanistic understanding of tumorigenesis of AML with IDH mutations...

Assessment of high cognitive functions, such as creativity, is often overlooked in medical practice. However, it is crucial to understand the impact of brain tumors, specifically low-grade gliomas, on creative cognition, as these tumors predominantly affect brain regions associated with cognitive creativity. In this study, we investigated creative cognition using the Alternative Uses Task (AUT) and the Combination of Associates Task (CAT) in a cohort of 29 patients who underwent brain surgery for a low-grade glioma, along with 27 control participants...

AIM: This systematic review synthesizes and evaluates the literature regarding the effect of manual toothbrushes (MTBs) with cross-angled bristle tufts (CA-TB) compared to flat-trim (FT-TB) configurations on plaque scores and parameters of gingival health in adult patients. MATERIALS AND METHODS: PubMed-MEDLINE and Cochrane-CENTRAL databases were searched, from their insertion up to August 1st, 2023, to detect appropriate papers. Clinical trials involving adult patients without periodontitis who performed self-brushing were eligible for inclusion...