Impact of Vitamin D Levels on Progression-Free Survival and Response to Neoadjuvant Chemotherapy in Breast Cancer Patients: A Systematic Review and Meta-Analysis.

Breast cancer remains the leading cause of cancer-related deaths among women despite advances in early detection. Neoadjuvant chemotherapy (NACT) is now standard for early-stage BC, with vitamin D (VD) emerging as a potential prognostic biomarker considering its positive pleiotropic effects. This review and meta-analysis assess the impact of baseline VD levels on outcomes in BC patients undergoing NACT.

Paclitaxel for second-line treatment of squamous cell carcinoma of the head and neck: A multicenter retrospective Italian study.

Background: Squamous cell carcinoma of the head and neck (SCCHN) accounts for 3% of all malignant tumors in Italy. Immune checkpoint inhibitors combined with chemotherapy is first-line treatment for SCCHN; however, second-line treatment options are limited. Taxanes are widely used for combination therapy of SCCHN, as clinical trials have shown their efficacy in patients with this disease, particularly in patients with prior therapy.

Resolved ALMA observations of water in the inner astronomical units of the HL Tau disk.

The water molecule is a key ingredient in the formation of planetary systems, with the water snowline being a favourable location for the growth of massive planetary cores. Here we present Atacama Large Millimeter/submillimeter Array data of the ringed protoplanetary disk orbiting the young star HL Tauri that show centrally peaked, bright emission arising from three distinct transitions of the main water isotopologue ( ). The spatially and spectrally resolved water content probes gas in a thermal range down to the water sublimation temperature.

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18.1).

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Nucleotide repeat expansions in the human genome are a well-known cause of neurological disease. In the past decade, advances in DNA sequencing technologies have led to a better understanding of the role of non-coding DNA, that is, the DNA that is not transcribed into proteins. These techniques have also enabled the identification of pathogenic non-coding repeat expansions that cause neurological disorders.

Circulating vitamin D level before initiating chemotherapy impacts on the time-to-outcome in metastatic colorectal cancer patients: systematic review and meta-analysis.

Background: Vitamin D (VD) is implicated in various health conditions, including colorectal cancer (CRC). To investigate potential relationships between pre-chemotherapy VD levels and the time-to-outcome in metastatic CRC patients, we conducted a systematic review and meta-analysis.

Methods: Following the PRISMA 2020 guidelines, we performed thorough searches in PubMed/MEDLINE and Scopus/ELSEVIER databases (covering the years 2002 to 2022).

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat.

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Background: Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the leading cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Patients exhibit significant clinical heterogeneity and variable disease course, but no potential biomarker has been identified to date.

Objectives: In this multicenter cross-sectional study, we aimed to evaluate neurofilament light (NfL) chain serum levels in a cohort of RFC1 disease patients and to correlate NfL serum concentrations with clinical phenotype and disease severity.

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.

Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In this study, we aimed to investigate the use of Optical Genome Mapping (OGM) as a diagnostic tool for testing FSHD cases from the UK and India and to compare OGM performance with that of traditional techniques such as linear gel (LGE) and Pulsed-field gel electrophoresis (PFGE) Southern blotting (SB). A total of 6 confirmed and 19 suspected FSHD samples were processed with LGE and PFGE, respectively.

Optical Genome Mapping Enables Detection and Accurate Sizing of Repeat Expansions.

A recessive Short Tandem Repeat expansion in has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedure for sizing these expansions is based on Southern Blotting (SB), a time-consuming and a relatively imprecise technique. In this paper, we compare SB with Optical Genome Mapping (OGM), a method for detecting Structural Variants (SVs) based on the measurement of distances between fluorescently labelled probes, for the diagnosis of CANVAS and disease spectrum.

Repeat expansions in are a cause of spinocerebellar ataxia Type 36 in the British population.

Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the gene and is characterized by late-onset ataxia, sensorineural hearing loss and upper and lower motor neuron signs, including tongue fasciculations.

A common low dimensional structure of cognitive impairment in stroke and brain tumors.

Introduction: Neuropsychological studies infer brain-behavior relationships from focal lesions like stroke and tumors. However, these pathologies impair brain function through different mechanisms even when they occur at the same brain's location. The aim of this study was to compare the profile of cognitive impairment in patients with brain tumors vs.

Insect Biodiversity in a Prealpine Suburban Hilly Area in Italy.

Human activities and habitat fragmentation are known to greatly influence biodiversity. The aim of this study was to update an entomological checklist of a prealpine area in Italy, and also to evaluate the influence of different habitats and the proximity to cities on the entomological fauna. This study included different areas of a local park in Northern Italy, covering about 4000 ha, and situated at altitudes between 190 and 960 m asl.

Increased frequency of repeat expansion mutations across different populations.

Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions, and technological limitations leading to under-ascertainment.

Patterns of gray and white matter functional networks involvement in glioblastoma patients: indirect mapping from clinical MRI scans.

Background: Resting-state functional-MRI studies identified several cortical gray matter functional networks (GMNs) and white matter functional networks (WMNs) with precise anatomical localization. Here, we aimed at describing the relationships between brain's functional topological organization and glioblastoma (GBM) location. Furthermore, we assessed whether GBM distribution across these networks was associated with overall survival (OS).

The dynamic functional connectivity fingerprint of high-grade gliomas.

Resting state fMRI has been used in many studies to investigate the impact of brain tumours on functional connectivity (FC). However, these studies have so far assumed that FC is stationary, disregarding the fact that the brain fluctuates over dynamic states. Here we utilised resting state fMRI data from 33 patients with high-grade gliomas and 33 healthy controls to examine the dynamic interplay between resting-state networks and to gain insights into the impact of brain tumours on functional dynamics.

Circulating Vitamin D Level and Its Impact on Mortality and Recurrence in Stage III Colorectal Cancer Patients: A Systematic Review and Meta-Analysis.

Background: Vitamin D (VD) has been implicated in several diseases, including colorectal cancer (CRC). This study aimed to determine whether there is an association between VD levels and time-to-outcome in stage III CRC patients through a systematic review and meta-analysis.

Methods: The study adhered to the PRISMA 2020 statement.

The Oxford cognitive screen (OCS) as an acute predictor of long-term functional outcome in a prospective sample of stroke patients.

The Oxford Cognitive Screen (OCS) was developed to measure cognitive impairment in stroke. Here, we test if the OCS administered acutely in stroke patients provides useful information in predicting long-term functional outcome. A group of first-time stroke patients (n = 74) underwent an acute behavioral assessment comprising the OCS and the NIHSS within one-week post-stroke.

Is there a role for adjuvant therapy in radiation-induced angiosarcoma of the breast? A case report and review of the literature.

Background: Angiosarcoma (AS) of the breast is very rare, accounting for 1% of all soft tissue breast tumors. AS may present as primary tumors of the breast or as secondary lesions usually associated with previous radiotherapy. Commonly, secondary AS affects older women (median age 67-71 years) with a clinical history of breast cancer.

Endoscopic treatment of solitary fibrous tumor of the trachea: a case report.

Background: Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm, generally arising in the visceral pleura. It rarely originates from other sites such as trachea, orbital cavities, nasal cavities, peritoneum, paranasal sinuses, meninges, salivary glands, thyroid gland, diaphragm, liver, pancreas, lung kidney, adrenal gland, mediastinum, spermatid cord, pericardium, urinary bladder, prostate, uterine cervix, testis, spinal cord, periosteum, skin, soft tissue and bone.

Case Description: We present a surgical case of a rare primary tracheal tumor.