Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge.

Stereotactic ablative body radiotherapy for primary kidney cancer (TROG 15.03 FASTRACK II): a non-randomised phase 2 trial.

Background: Stereotactic ablative body radiotherapy (SABR) is a novel non-invasive alternative for patients with primary renal cell cancer who do not undergo surgical resection. The FASTRACK II clinical trial investigated the efficacy of SABR for primary renal cell cancer in a phase 2 trial.

Methods: This international, non-randomised, phase 2 study was conducted in seven centres in Australia and one centre in the Netherlands.

Impact of cannula diameter on pregnancy outcomes after minimally invasive fetal laser surgery in the treatment of twin-to-twin transfusion syndrome: A systematic review and meta-analysis.

Introduction: Preterm prelabor rupture of membranes (PPROM) remains a major complication of fetal laser surgery in the treatment of twin-to-twin transfusion syndrome (TTTS). The aim of the study was to determine the impact of cannula size on pregnancy outcomes, with a particular focus on PPROM.

Material And Methods: The protocol was developed and registered in the PROSPERO database under registration number CRD42022333630.

Detection of Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.

Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants (SNVs) and copy-number variants (CNVs) in the Patched1 () gene. Genetic diagnosis may be complicated in mosaic BCNS patients, as accurate SNV and CNV analysis requires high-sensitivity methods due to possible low variant allele frequencies.

Management of Uterine Fibroids and Sarcomas: The Palermo Position Paper.

Background: Uterine fibroids are benign monoclonal tumors originating from the smooth muscle cells of the myometrium, constituting the most prevalent pathology within the female genital tract. Uterine sarcomas, although rare, still represent a diagnostic challenge and should be managed in centers with adequate expertise in gynecological oncology.

Objectives: This article is aimed to summarize and discuss cutting-edge elements about the diagnosis and management of uterine fibroids and sarcomas.

Time trends in real-world treatment patterns and survival in patients diagnosed with de novo HER2+ metastatic breast cancer: an analysis of the SONABRE registry.

Purpose: The aim was to determine whether the real-world first-line progression-free survival (PFS) of patients diagnosed with de novo human epidermal growth factor receptor 2 positive (HER2+) advanced breast cancer (ABC) has improved since the introduction of pertuzumab in 2013. In addition to PFS, we aimed to determine differences in overall survival (OS) and the use of systemic and locoregional therapies.

Methods: Included were patients systemically treated for de novo HER2+ ABC in ten hospitals in 2008-2017 from the SONABRE Registry (NCT-03577197).

Impaired Mitochondrial Respiration in Upper Compared to Lower Body Differentiated Human Adipocytes and Adipose Tissue.

Context: Abdominal obesity is associated with increased cardiometabolic disease risk, while lower body fat seems to confer protection against obesity-related complications. The functional differences between upper and lower body adipose tissue (AT) remain poorly understood.

Objective: We aimed to examine whether mitochondrial respiration is impaired in abdominal as compared to femoral differentiated human multipotent adipose-derived stem cells (hMADS; primary outcome) and AT in postmenopausal women.

Decisional Conflict in Patients with Advanced Laryngeal Carcinoma: A Multicenter Study.

Objectives: Decision-making for patients with a locally advanced laryngeal carcinoma (T3 and T4) is challenging due to the treatment choice between organ preservation and laryngectomy, both with different and high impact on function and quality of life (QoL). The complexity of these treatment decisions and their possible consequences might lead to decisional conflict (DC). This study aimed to explore the level of DC in locally advanced laryngeal carcinoma patients facing curative decision-making, and to identify possible associated factors.

Comparing the performance of a deep learning-based lung gross tumour volume segmentation algorithm before and after transfer learning in a new hospital.

Objectives: Radiation therapy for lung cancer requires a gross tumour volume (GTV) to be carefully outlined by a skilled radiation oncologist (RO) to accurately pinpoint high radiation dose to a malignant mass while simultaneously minimizing radiation damage to adjacent normal tissues. This is manually intensive and tedious however, it is feasible to train a deep learning (DL) neural network that could assist ROs to delineate the GTV. However, DL trained on large openly accessible data sets might not perform well when applied to a superficially similar task but in a different clinical setting.

Breast Cancer in the Tissue of the Contralateral Breast Reduction.

Breast cancer is the most prevalent malignancy among women worldwide, and the increasing number of survivors is due to advances in early diagnosis and treatment efficacy. Consequently, the risk of developing contralateral breast cancer (CBC) among these survivors has become a concern. While surgical intervention with lumpectomy is a widely used primary approach for breast cancer, post-operative breast asymmetry is a potential concern.

Longitudinal associations of plasma kynurenines and ratios with anxiety and depression scores in colorectal cancer survivors up to 12 months post-treatment.

Introduction: Colorectal cancer (CRC) survivors often experience neuropsychological symptoms, including anxiety and depression. Mounting evidence suggests a role for the kynurenine pathway in these symptoms due to potential neuroprotective and neurotoxic roles of involved metabolites. However, evidence remains inconclusive and insufficient in cancer survivors.

Impact of low dose superparamagnetic iron oxide tracer for sentinel node biopsy in breast conserving treatment on susceptibility artefacts on magnetic resonance imaging and contrast enhanced mammography.

Background: Residual particles of superparamagnetic iron oxide (SPIO) tracer, used for sentinel node biopsy, cause susceptibility artefacts on breast Magnetic Resonance Imaging (MRI). We investigated the impact of these artefacts on the imaging quality of MRI and explored whether contrast-enhanced mammography (CEM) could be an alternative in the follow-up of breast cancer patients.

Materials And Methods: Data on patients' characteristics, injection site, presence, size (mm) of artefacts on full-field digital mammography (FFDM)/CEM, MRI after 1 ml SPIO was recorded.

Multi-sequence MRI radiomics of colorectal liver metastases: Which features are reproducible across readers?

Purpose: To assess the inter-reader reproducibility of radiomics features on multiple MRI sequences after segmentations of colorectal liver metastases (CRLM).

Method: 30 CRLM (in 23 patients) were manually delineated by three readers on MRI before the start of chemotherapy on the contrast enhanced T1-weighted images (CE-T1W) in the portal venous phase, T2-weighted images (T2W) and b800 diffusion weighted images (DWI). DWI delineations were copied to the ADC-maps.