×
About 117,783 results

Dietary inadequacies overestimate the blood deficiencies of magnesium, zinc, and vitami...
https://doi.org/10.1016/j.clnesp.2022.12.015
Clinical Nutrition ESPEN; Hermes Sales C, de Mello Fontanelli M et. al.

Jan 20th, 2023 - We aimed to estimate the prevalence of the inadequate intake and status of magnesium, zinc, and vitamins A, C, E, and D and identify factors associated with micronutrient deficiency in serum/plasma among residents of São Paulo, Brazil. Data from 824 individuals aged ≥14 years were obtained from the 2015 ISA-Nutrition, a population-based, cross-sectional survey. Dietary and supplement intakes we...

Ectopic lipid deposition and insulin resistance in patients with GH disorders before an...
https://doi.org/10.1093/ejendo/lvac014
European Journal of Endocrinology; Arlien-Søborg MC, Madsen MA et. al.

Jan 19th, 2023 - Insulin resistance is associated with ectopic lipid deposition. Growth hormone (GH) status also modulates ectopic lipid accumulation, but how this associates with insulin resistance in patients with GH disorders is not well established. Twenty-one patients diagnosed with acromegaly and 12 patients with adult GH deficiency (GHD) were studied at diagnosis and after treatment. A reference group of...

γδ T cells are effectors of immunotherapy in cancers with HLA class I defects.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9876799
Nature de Vries NL, van de Haar J et. al.

Jan 12th, 2023 - DNA mismatch repair-deficient (MMR-d) cancers present an abundance of neoantigens that is thought to explain their exceptional responsiveness to immune checkpoint blockade (ICB)1,2. Here, in contrast to other cancer types3-5, we observed that 20 out of 21 (95%) MMR-d cancers with genomic inactivation of β2-microglobulin (encoded by B2M) retained responsiveness to ICB, suggesting the involvement...

Tumor-derived OBP2A promotes prostate cancer castration resistance.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789742
The Journal of Experimental Medicine; Jeong JH, Zhong S et. al.

Dec 23rd, 2022 - Androgen deprivation therapy (ADT) is a systemic therapy for advanced prostate cancer (PCa); although most patients initially respond to ADT, almost all cancers eventually develop castration-resistant PCa (CRPC). Currently, most research focuses on castration-resistant tumors, and the role of tumors in remission is almost completely ignored. Here, we report that odorant-binding protein (OBP2A) ...

Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura.
https://doi.org/10.1056/NEJMoa2211113
The New England Journal of Medicine; Asmis LM, Serra A et. al.

Dec 23rd, 2022 - A 27-year-old patient with a history of severe obstetrical complications and arterial thrombosis received a diagnosis of hereditary thrombotic thrombocytopenic purpura (TTP) due to severe ADAMTS13 deficiency when she presented with an acute episode in the 30th week of her second pregnancy. When the acute episode of hereditary TTP became plasma-refractory and fetal death was imminent, weekly inj...

Lentiviral Gene Therapy for Artemis-Deficient SCID.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884487
The New England Journal of Medicine; Cowan MJ, Yu J et. al.

Dec 23rd, 2022 - The DNA-repair enzyme Artemis is essential for rearrangement of T- and B-cell receptors. Mutations in DCLRE1C, which encodes Artemis, cause Artemis-deficient severe combined immunodeficiency (ART-SCID), which is poorly responsive to allogeneic hematopoietic-cell transplantation. We carried out a phase 1-2 clinical study of the transfusion of autologous CD34+ cells, transfected with a lentiviral...

Worsening effect of testosterone deficiency on males with heart failure with preserved ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761962
BMC Endocrine Disorders; Hamam A, Abou-Omar M et. al.

Dec 19th, 2022 - Heart failure with preserved ejection fraction (HFpEF)is challenging. Patients usually have normal LV size and ejection fraction. This clinical syndrome develops from a complex interaction of several risk factors that cause organ dysfunction and clinical symptoms. There's evidence that testosterone deficiency is associated with a worse cardiometabolic profile and increased inflammatory markers....

Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
https://doi.org/10.1097/DAD.0000000000002286
The American Journal of Dermatopathology; Hui Ong EL, Cooray S et. al.

Dec 10th, 2022 - Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive monogenic autoinflammatory syndrome that is classically characterised by polyarteritis nodosa, systemic vasculitis and stroke. The spectrum of disease manifestations has broadened to encompass a range of cutaneous, vascular and haematological manifestations. We report a novel association in two sisters with heterozygous ...

CLSTN3β enforces adipocyte multilocularity to facilitate lipid utilization.
https://doi.org/10.1038/s41586-022-05507-1
Nature Qian K, Tol MJ et. al.

Dec 9th, 2022 - Multilocular adipocytes are a hallmark of thermogenic adipose tissue1,2, but the factors that enforce this cellular phenotype are largely unknown. Here, we show that an adipocyte-selective product of the Clstn3 locus (CLSTN3β) present in only placental mammals facilitates the efficient use of stored triglyceride by limiting lipid droplet (LD) expansion. CLSTN3β is an integral endoplasmic reticu...

Maternal use of methamphetamine induces sex-dependent changes in myocardial gene expres...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693808
Physiological Reports; Dague A, Chavva H et. al.

Nov 26th, 2022 - Methamphetamine is a commonly abused illicit stimulant that has prevalent use among women of child-bearing age. While there are extensive studies on the neurological effects of prenatal methamphetamine exposure, relatively little is known about the effect of prenatal methamphetamine on the adult cardiovascular system. Earlier work demonstrated that prenatal methamphetamine exposure sex dependen...

Enterococci enhance Clostridioides difficile pathogenesis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691601
Nature Smith AB, Jenior ML et. al.

Nov 18th, 2022 - Enteric pathogens are exposed to a dynamic polymicrobial environment in the gastrointestinal tract1. This microbial community has been shown to be important during infection, but there are few examples illustrating how microbial interactions can influence the virulence of invading pathogens2. Here we show that expansion of a group of antibiotic-resistant, opportunistic pathogens in the gut-the ...

T cells specific for α-myosin drive immunotherapy-related myocarditis.
https://doi.org/10.1038/s41586-022-05432-3
Nature Axelrod ML, Meijers WC et. al.

Nov 18th, 2022 - Immune-related adverse events, particularly severe toxicities such as myocarditis, are major challenges to the utility of immune checkpoint inhibitors (ICIs) in anticancer therapy1. The pathogenesis of ICI-associated myocarditis (ICI-MC) is poorly understood. Pdcd1-/-Ctla4+/- mice recapitulate clinicopathological features of ICI-MC, including myocardial T cell infiltration2. Here, using single-...

VEGFR2 insufficiency enhances phosphotoxicity and undermines Klotho's protection agains...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799155
American Journal of Physiology. Renal Physiology; Shi M, Maique JO et. al.

Nov 18th, 2022 - Vascular endothelial growth factor (VEGF) and its cognate receptor (VEGFR2) system are crucial for cell functions associated with angiogenesis and vasculogenesis. Klotho contributes to vascular health maintenance in the kidney and other organs in mammals, but it is unknown whether renoprotection by Klotho is dependent on VEGF/VEGFR2 signaling. We used heterozygous VEGFR2-haploinsufficient (VEGF...

Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD def...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702539
Disease Models & Mechanisms; Cuny H, Bozon K et. al.

Nov 15th, 2022 - Nicotinamide adenine dinucleotide (NAD) is a key metabolite synthesised from vitamin B3 or tryptophan. Disruption of genes encoding NAD synthesis enzymes reduces NAD levels and causes congenital NAD deficiency disorder (CNDD), characterised by multiple congenital malformations. SLC6A19 (encoding B0AT1, a neutral amino acid transporter), represents the main transporter for free tryptophan in the...

Metastatic recurrence in colorectal cancer arises from residual EMP1+ cells.
https://doi.org/10.1038/s41586-022-05402-9
Nature Cañellas-Socias A, Cortina C et. al.

Nov 10th, 2022 - Around 30-40% of patients with colorectal cancer (CRC) undergoing curative resection of the primary tumour will develop metastases in the subsequent years1. Therapies to prevent disease relapse remain an unmet medical need. Here we uncover the identity and features of the residual tumour cells responsible for CRC relapse. An analysis of single-cell transcriptomes of samples from patients with C...

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccinat...
https://doi.org/10.1084/jem.20220258
The Journal of Experimental Medicine; Sokal A, Bastard P et. al.

Nov 8th, 2022 - Inborn and acquired deficits of type I interferon (IFN) immunity predispose to life-threatening COVID-19 pneumonia. We longitudinally profiled the B cell response to mRNA vaccination in SARS-CoV-2 naive patients with inherited TLR7, IRF7, or IFNAR1 deficiency, as well as young patients with autoantibodies neutralizing type I IFNs due to autoimmune polyendocrine syndrome type-1 (APS-1) and older...

Neonatal Docosahexaenoic Acid in Preterm Infants and Intelligence at 5 Years.
https://doi.org/10.1056/NEJMoa2206868
The New England Journal of Medicine; Gould JF, Makrides M et. al.

Oct 28th, 2022 - Docosahexaenoic acid (DHA) is a component of neural tissue. Because its accretion into the brain is greatest during the final trimester of pregnancy, infants born before 29 weeks' gestation do not receive the normal supply of DHA. The effect of this deficiency on subsequent cognitive development is not well understood. We assessed general intelligence at 5 years in children who had been enrolle...

Collectrin (Tmem27) deficiency in proximal tubules causes hypertension in mice and a TM...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762972
American Journal of Physiology. Renal Physiology; Chu PL, Gigliotti JC et. al.

Oct 21st, 2022 - Collectrin (Tmem27), an angiotensin-converting enzyme 2 homologue, is a chaperone of amino acid transporters in the kidney and endothelium. Global collectrin knockout (KO) mice have hypertension, endothelial dysfunction, exaggerated salt sensitivity, and diminished renal blood flow. This phenotype is associated with altered nitric oxide and superoxide balance and increased proximal tubule (PT) ...

Fast resupply of synaptic vesicles requires synaptotagmin-3.
https://doi.org/10.1038/s41586-022-05337-1
Nature Weingarten DJ, Shrestha A et. al.

Oct 20th, 2022 - Sustained neuronal activity demands a rapid resupply of synaptic vesicles to maintain reliable synaptic transmission. Such vesicle replenishment is accelerated by submicromolar presynaptic Ca2+ signals by an as-yet unidentified high-affinity Ca2+ sensor1,2. Here we identify synaptotagmin-3 (SYT3)3,4 as that presynaptic high-affinity Ca2+ sensor, which drives vesicle replenishment and short-term...

Changing the name of diabetes insipidus: a position statement of The Working Group for ...
https://doi.org/10.1507/endocrj.EJ20220831
Endocrine Journal; , Arima H et. al.

Oct 17th, 2022 - "What's in a name? That which we call a rose/By any other name would smell as sweet." (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word and it therefore represents a convention with no intrinsic meaning. Whilst this may be relevant to romantic literature, disease names do have real meanings, and consequences, in medicine. Henc...