Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2021.3728
Abstract: Importance The balance between the potential long-term clinical benefits and harms associated with genetic cholesteryl ester transfer protein (CETP) deficiency, mimicking pharmacologic CETP inhibition, is unknown. Objective To assess the relative benefits and harms associated… read more here.
Keywords: hdl cholesterol; risk; associated genetic; cholesterol ... See more keywords
Why USPSTF Still Finds Insufficient Evidence to Support Screening for Vitamin D Deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA network open"
DOI: 10.1001/jamanetworkopen.2021.3627
Abstract: In 2014, the United States Preventive Services Task Force (USPSTF) concluded that among community-dwelling asymptomatic adults aged 18 years and older, there was insufficient evidence (ie, I statement) to assess the balance of benefits and… read more here.
Keywords: health; insufficient evidence; deficiency; screening vitamin ... See more keywords
Mismatch Repair Deficiency Testing in Patients With Colorectal Cancer and Nonadherence to Testing Guidelines in Young Adults
Sign Up to like & getrecommendations! Published in 2018 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2017.3580
Abstract: Importance Mismatch repair (MMR) deficiency of DNA has been observed in up to 15% of sporadic colorectal cancers (CRCs) and is a characteristic feature of Lynch syndrome, which has a higher incidence in young adults… read more here.
Keywords: testing guidelines; deficiency testing; mmr deficiency; mismatch repair ... See more keywords
Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2017.3292
Abstract: Importance A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in… read more here.
Keywords: cblc deficiency; microstructural changes; congenital zika; layer ... See more keywords
Epitope analysis of human monoclonal antibodies from a patient with autoimmune factor XIII deficiency reveals their inhibitory mechanisms
Sign Up to like & getrecommendations! Published in 2023 at "FEBS Letters"
DOI: 10.1002/1873-3468.14606
Abstract: Autoimmune coagulation factor XIII (FXIII) deficiency (AiF13D) is a bleeding disorder caused by anti‐FXIII autoantibodies. Recently, we generated human monoclonal antibodies (mAbs) from the peripheral blood of an AiF13D patient and classified them into three… read more here.
Keywords: factor xiii; monoclonal antibodies; human monoclonal; deficiency ... See more keywords
Cardioselective peripheral noradrenergic deficiency in Lewy body synucleinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51243
Abstract: Lewy body (LB) synucleinopathies such as Parkinson’s disease (PD) entail profound cardiac norepinephrine deficiency. The status of sympathetic noradrenergic innervation at other extracranial sites has been unclear. Although in vivo neuroimaging studies have indicated a… read more here.
Keywords: body synucleinopathies; cardioselective peripheral; deficiency; lewy body ... See more keywords
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51462
Abstract: Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood-brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug-resistant metabolic epilepsy due… read more here.
Keywords: deficiency syndrome; deficiency; treatment glut1; glut1 deficiency ... See more keywords
Age‐related phenotype and biomarker changes in SSADH deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.696
Abstract: Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma‐amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB) and a complex neuropsychiatric profile. Adult reports suggest worsening epilepsy and high SUDEP risk. read more here.
Keywords: phenotype biomarker; biomarker changes; ssadh deficiency; age related ... See more keywords
Bi-Deficiency Leading to High-Performance in Mg3 (Sb,Bi)2 -Based Thermoelectric Materials.
Sign Up to like & getrecommendations! Published in 2023 at "Advanced materials"
DOI: 10.1002/adma.202209119
Abstract: Mg3(Sb,Bi)2 is a potential nearly‐room temperature thermoelectric compound composed of earth‐abundant elements. However, complex defect tuning and exceptional microstructural control are required. Prior studies have confirmed the detrimental effect of Mg vacancies (VMg) in Mg3(Sb,Bi)2.… read more here.
Keywords: leading high; deficiency leading; materials deficiency; performance mg3 ... See more keywords
MEN1 Deficiency‐Driven Activation of the β‐Catenin‐MGMT Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers Temozolomide Resistance
Sign Up to like & getrecommendations! Published in 2024 at "Advanced Science"
DOI: 10.1002/advs.202308417
Abstract: O6‐methylguanine DNA methyltransferase (MGMT) removes alkyl adducts from the guanine O6 position (O6‐MG) and repairs DNA damage. High MGMT expression results in poor response to temozolomide (TMZ). However, the biological importance of MGMT and the… read more here.
Keywords: men1; catenin; mgmt; expression ... See more keywords
Iron deficiency across chronic inflammatory conditions: International expert opinion on definition, diagnosis, and management
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Hematology"
DOI: 10.1002/ajh.24820
Abstract: Abstract Iron deficiency, even in the absence of anemia, can be debilitating, and exacerbate any underlying chronic disease, leading to increased morbidity and mortality. Iron deficiency is frequently concomitant with chronic inflammatory disease; however, iron… read more here.
Keywords: diagnosis; disease; chronic inflammatory; iron deficiency ... See more keywords