Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFIrreversible electroporation (IRE) is a minimally invasive ablation technique that compromises integrity of the cell membrane through the application of short duration, high voltage electric pulses to induce cell death. Adverse effects of IRE such as muscle contractions are reduced with higher frequency biphasic pulsing, commonly known as high-frequency irreversible electroporation (H-FIRE). IRE and H-FIRE treatments have shown to increase immune activation through the induction of both immediate and delayed cell death, indicated by the release of damage-associated molecular pathways, antigens, and proteins.
View Article and Find Full Text PDFfungi are key producers of pharmaceuticals, enzymes, and food products and exhibit diverse lifestyles, ranging from saprophytes to opportunistic pathogens. To improve understanding of species diversity, identify key environmental factors influencing their geographic distributions, and estimate the impact of future climate change, we trained a random forest machine learning classifier on 30,542 terrestrial occurrence records for 176 species (~40% of known species in the genus) and 96 environmental variables. We found that regions with high species diversity are concentrated in temperate forests, which suggests that areas with mild seasonal variation may serve as diversity hotspots.
View Article and Find Full Text PDFPurpose: We conducted a phase I/II study evaluating nivolumab plus doxorubicin, vinblastine, dacarbazine (N-AVD) as frontline therapy for treatment-naïve older adults (OA) with classical Hodgkin lymphoma (cHL; ClinicalTrials.gov identifier: NCT03033914).
Methods: Patients age ≥60 years with newly diagnosed, any stage, cHL were treated with six cycles of AVD at standard doses plus nivolumab 240 mg intravenously once every 2 weeks (on days 1 and 15) of each cycle.
Rev Endocr Metab Disord
December 2024
Intravenous iron supplementation is increasingly used to safely and effectively correct iron deficiency anemia, but some formulations are linked to a renal phosphate wasting syndrome which is mediated by fibroblast growth factor 23. Unawareness among prescribers and the nonspecific clinical symptoms of hypophosphatemia result in underreporting of this complication. Even though it is often an asymptomatic and self-limiting condition, accumulating evidence from case reports and dedicated randomized controlled trials show that IV iron induced hypophosphatemia may be associated with clinical symptoms.
View Article and Find Full Text PDFTwo new species of genus Bactrocera Macquart, namely Bactrocera (Bactrocera) ettinanhuja Abhishek and David, sp. nov. and Bactrocera (Bactrocera) kyrdemkulai Abhishek & David, sp.
View Article and Find Full Text PDFTwo new species of Phytalmiinae belonging to the tribe Acanthonevrini are described from India, namely Ptilona confracta David & Hancock, sp. nov. from Arunachal Pradesh and Tritaeniopteron obscurum David, Salini & Nikhil, sp.
View Article and Find Full Text PDFZootaxa
May 2024
Two new species of Dacus Fabricius, namely D. (Mellesis) nagarathnae Abhishek, David & Hancock, sp. nov.
View Article and Find Full Text PDFPurpose: Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria.
View Article and Find Full Text PDFCD74 is a cell-surface receptor for the cytokine macrophage migration inhibitory factor (MIF). MIF binding to CD74 induces a signaling cascade resulting in the release of its cytosolic intracellular domain (CD74-ICD), which regulates transcription in naïve B and chronic lymphocytic leukemia (CLL) cells. In the current study, we investigated the role of CD74 in the regulation of the immunosuppressive tumor microenvironment (TME) in triple-negative breast cancer (TNBC).
View Article and Find Full Text PDFis a gram-negative anaerobic bacterium linked to periodontal disease. Remarkably, thrives in an inflamed environment rich in activated neutrophils. Toll-like receptor 2 (TLR2) recognition is required for to evade innate immune killing; however, the mechanisms through which uncouples host inflammation from bactericidal activity are only partially known.
View Article and Find Full Text PDFThe Antarctic sea urchin Sterechinus neumayeri (Echinoida; Echinidae) is routinely used as a model organism for Antarctic biology. Here, we present a high-quality genome of S. neumayeri.
View Article and Find Full Text PDFTriple-negative breast cancer (TNBC) is the most aggressive breast cancer subtype. The tumor microenvironment (TME) plays a major regulatory role in TNBC progression and is highly infiltrated by suppressive immune cells that reduce anti-tumor immune activity. Although regulatory B cells (Bregs) are a key TME component, knowledge of their function in TNBC is limited.
View Article and Find Full Text PDFThe androgen receptor signaling inhibitor apalutamide is used successfully for the treatment of prostate cancer. An increased risk of hypothyroidism, mostly subclinical, has been reported in the SPARTAN and TITAN trials. We present three cases of subacute deterioration of previously known but well-controlled hypothyroidism treated with levothyroxine, occurring shortly after the initiation of treatment with apalutamide, resulting in severe hypothyroidism.
View Article and Find Full Text PDFOverlap syndromes involving systemic sclerosis (SSc), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE) are rare and present significant diagnostic and therapeutic challenges. This case report details a 54-year-old female who presented with a constellation of clinical and serological features suggestive of both SSc, RA, and SLE. The patient's clinical course, diagnostic findings, and response to treatment are discussed highlighting the need for a multidisciplinary approach in managing such complex cases.
View Article and Find Full Text PDFBiological sex affects the activity of the hypothalamus-pituitary-adrenal (HPA) axis. However, how androgen deprivation affects this axis remains largely unknown. In this study, we investigated the effect of androgen status on different components of the HPA axis in male mice.
View Article and Find Full Text PDFPurpose: The purpose of our study was to identify and describe determinants of lesbian and bisexual breast cancer survivors' post-treatment resources.
Methods: We used a cross-sectional descriptive study design. The data reported here were gathered as part of OUT: The National Cancer Survey, administered electronically from September 2020 to March 2021 via social media and community partners.
Many remarkable innovations have repeatedly occurred across vast evolutionary distances. When convergent traits emerge on the tree of life, they are sometimes driven by the same underlying gene families, while other times many different gene families are involved. Conversely, a gene family may be repeatedly recruited for a single trait or many different traits.
View Article and Find Full Text PDFBackground: Unilateral presentation of sacroiliitis is a diagnostic dilemma, especially between infection and inflammatory sacroiliitis associated with spondyloarthritis, requiring an early and accurate diagnosis.
Objective: To assess the utility of magnetic resonance imaging (MRI) in differentiating infective versus inflammatory etiology in unilateral sacroiliitis.
Materials And Methods: Retrospective review of the MRI of 90 patients with unilateral sacroiliitis, having an established final diagnosis.
Gene gains and losses are a major driver of genome evolution; their precise characterization can provide insights into the origin and diversification of major lineages. Here, we examined gene family evolution of 1,154 genomes from nearly all known species in the medically and technologically important yeast subphylum Saccharomycotina. We found that yeast gene family and genome evolution are distinct from plants, animals, and filamentous ascomycetes and are characterized by small genome sizes and smaller gene numbers but larger gene family sizes.
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