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About 17,170 results

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...

Lentiviral Gene Therapy for Artemis-Deficient SCID.
https://doi.org/10.1056/NEJMoa2206575
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...

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 ...

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-...

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...

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...

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
https://doi.org/10.1111/ene.15515
European Journal of Neurology; François-Heude MC, Lebigot E et. al.

Oct 7th, 2022 - HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disord...

An LKB1-mitochondria axis controls TH17 effector function.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844518
Nature Baixauli F, Piletic K et. al.

Sep 29th, 2022 - CD4+ T cell differentiation requires metabolic reprogramming to fulfil the bioenergetic demands of proliferation and effector function, and enforce specific transcriptional programmes1-3. Mitochondrial membrane dynamics sustains mitochondrial processes4, including respiration and tricarboxylic acid (TCA) cycle metabolism5, but whether mitochondrial membrane remodelling orchestrates CD4+ T cell ...

Isolated adrenocorticotropic hormone deficiency associated with sintilimab therapy in a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509587
BMC Endocrine Disorders; Lin SH, Zhang A et. al.

Sep 25th, 2022 - Several immune checkpoint inhibitors have been implemented for cancer treatment which have shown some degree of antitumor effcacy, while immune-related adverse events (irAEs) that affect multiple organ functions ensue which obviously should not be neglected. Though less common than other kinds of irAEs, Immune checkpoint inhibitors (ICIs) related Isolated ACTH deficiency (IAD) may cause long-te...

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509642
Orphanet Journal of Rare Diseases; Olivotto S, Duse A et. al.

Sep 25th, 2022 - Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. Clinical, biochemical and genetic data in a cohort of familial Glut1-DS cases were collected from medical records. ...

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
https://doi.org/10.1038/s41586-022-05221-y
Nature Laqtom NN, Dong W et. al.

Sep 22nd, 2022 - Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus1. Lysosomal dysfunction occurs in various human conditions, such as common neurodegenerative diseases and monogenic lysosomal storage disorders (LSDs)2-4. For most LSDs, the causal genes have been identified but, in some, the function of the implicated gene is unknown, in part because lysosomes occupy a ...

Failure of human rhombic lip differentiation underlies medulloblastoma formation.
https://doi.org/10.1038/s41586-022-05215-w
Nature Hendrikse LD, Haldipur P et. al.

Sep 22nd, 2022 - Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain1-4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage5-8. By contrast, mutations that activate WNT signalling lead to WNT MB in the lower RL9,10. However, littl...

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
https://doi.org/10.1002/mds.29167
Movement Disorders : Official Journal of the Movement Dis... Cordts I, Semmler L et. al.

Sep 2nd, 2022 - COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10 ) biosynthesis. Autosomal recessive COQ4-associated CoQ10 deficiency leads to an early-onset mitochondrial multi-organ disorder. In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived ce...

Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial compl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410648
Medicine Men L, Feng J et. al.

Sep 1st, 2022 - Leigh syndrome (LS) is a rare, progressive, and fatal neurodegenerative disease that occurs mainly in infants and children. Neonatal LS has not yet been fully described. The study design was approved by the ethics review board of Shenzhen Children's Hospital. A 24-day-old full-term male infant presented with a 2-day history of lip cyanosis when crying in September 2021. He was born to nonconsan...

MRI Findings of Pituitary Gland in Growth Hormone-Deficient Children and Their Correlat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385284
Contrast Media & Molecular Imaging; Chen J, Wang X et. al.

Aug 26th, 2022 - This study aims to explore the magnetic resonance imaging (MRI) findings of the pituitary gland (PG) in children with growth hormone deficiency (GHD) and their correlation with the growth hormone (GH) peak during clinical GH stimulation tests. Sixty-one children with GHD diagnosed and treated between December 2018 and December 2021 were retrospectively analyzed in terms of clinical and pituitar...

A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomitin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9423005
The American Journal of Case Reports; Naothavorn W, Thanapongpibul C et. al.

Aug 25th, 2022 - BACKGROUND Acute fatty liver of pregnancy (AFLP) is a rare obstetric emergency that most commonly occurs in the third trimester and has high mortality rates for the mother and fetus. AFLP is a diagnosis of exclusion supported by identifying 6 or more of the 15 Swansea criteria. This report is of a 24-year-old woman presenting in the third trimester of pregnancy with nausea, vomiting, and abdomi...

Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusi...
https://doi.org/10.1016/S2352-3026(22)00214-9
The Lancet. Haematology; Glenthøj A, van Beers EJ et. al.

Aug 22nd, 2022 - Mitapivat, an oral activator of pyruvate kinase (PK) in red blood cells (RBCs), has shown significant improvements in haemoglobin and haemolysis among patients with pyruvate kinase deficiency who were not receiving regular transfusions. We aimed to evaluate the efficacy and safety of mitapivat in adults with pyruvate kinase deficiency receiving regular transfusions. ACTIVATE-T was an open-label...

Mitapivat for treatment of pyruvate kinase deficiency.
https://doi.org/10.1016/S2352-3026(22)00249-6
The Lancet. Haematology; Costa FF

Aug 22nd, 2022 - Mitapivat for treatment of pyruvate kinase deficiency.|2022|Costa FF,|drug therapy,deficiency,drug therapy,

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyske...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388389
American Journal of Human Genetics; Tummala H, Walne A et. al.

Aug 6th, 2022 - Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of probands remain without a molecular diagnosis. In a cohort of eight independent DC-affected fami...