Xinrui Luo,1,* Yan Wang,1,2,* Liping Wang,2 Yang Shen,1,2 Mulan Ren2 1Department of Medicine, Southeast University, Nanjing, Jiangsu, People’s Republic of China; 2Department of Obstetrics and Gynecology, Zhongda Hospital, Nanjing, Jiangsu, People’
Luo X, Ren M, Wang Y, Shen Y, Wang L
core
Clinical Significance of the C-Reactive Protein-Triglyceride-Glucose Index in Cardiovascular Disease, Stroke, Cardiovascular-Kidney-Metabolic Syndrome, Cancer, Diabetes, and Osteoporosis: A Narrative Review. [PDF]
Yang S +7 more
europepmc +1 more source
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima +48 more
wiley +1 more source
Editorial: Cardiovascular-kidney-metabolic syndrome: interorgan crosstalk, pathophysiology, and therapeutics. [PDF]
Ding W, Li H, Wang XH, Wang B.
europepmc +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Vagus Nerve Stimulation Paired With Tones Alters the Auditory Cortex Proteome in a Rat Model of Rett Syndrome. [PDF]
Myers IK +6 more
europepmc +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
Threshold associations of novel metabolic-anthropometric indices with motoric cognitive risk syndrome in Chinese middle‑aged and older adults: A cross‑sectional study. [PDF]
Deng S, Guo Z.
europepmc +1 more source
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source

