Simultaneous quantification of fat-soluble vitamins A, 25-hydroxylvitamin D and vitamin E in plasma from children using liquid chromatography coupled to Orbitrap mass spectrometry.

The fat-soluble vitamins A, D, E and K are micronutrients essential for physiological activity, metabolism and growth. Accurate and sensitive analytical methods are needed to support growing research into fat-soluble vitamins and their impact on children's growth and health. Here we report the first method for simultaneous quantification of fat-soluble vitamins A (retinol), 25-hydroxylvitamin D, 25-hydroxylvitamin D, and vitamin E (α-tocopherol) using a Q-Exactive Orbitrap mass spectrometer in high-resolution, parallel reaction monitoring mode.

Improving quality management of newborn screening in southwest China.

Objective: Newborn screening (NBS) programs benefit tens of millions of infants worldwide each year. However, the extremely large screening populations and number of laboratories involved pose great challenges to maintaining high screening quality. To achieve continuous quality improvement, we established a comprehensive quality management system (CQMS) in southwest China.

[Analysis of ecological recycling modes for Gastrodia elata cultivation].

Gastrodia elata is a kind of precious traditional Chinese medicine. In artificial cultivation, it has not got rid of its dependence on forest resources. In order to maintain the balance of the ecological system and reduce the waste of resources as much as possible, based on the information from field investigation at many places, this paper introduced the new ecological circulation planting patterns of G.

PLCε knockdown prevents serine/glycine metabolism and proliferation of prostate cancer by suppressing YAP.

The metabolic reprogramming is an important basis for the development of many tumors, including prostate cancer (PCa). Metabolic changes in many amino acids consist of serine and glycine affect the biological behavior of them. Phospholipase C epsilon (PLCε) plays an important role as an oncogene.

Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.

Background: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of which had a good prognosis after proper therapies.

Case Presentation: We report a 9-month-old boy with mHS deficiency presenting with unusually severe and persistent acidosis after diarrhea and reduced oral food intake.

microRNA-221 Enhances MYCN via Targeting Nemo-like Kinase and Functions as an Oncogene Related to Poor Prognosis in Neuroblastoma.

is one of the most well-characterized genetic markers of neuroblastoma. However, the mechanisms as to how mediate neuroblastoma tumorigenesis are not fully clear. Increasing evidence has confirmed that the dysregulation of miRNAs is involved in MYCN-mediated neuroblastoma tumorigenesis, supporting their potential as therapeutic targets for neuroblastoma.

[Pedigree investigation of clinicopathologic features and alpha-galactosidase A gene mutation in a family with Fabry disease].

Objective: To analyze the clinical manifestation, clinicopathologic features and alpha-galactosidase A (GLA) gene mutations in a pedigree with Fabry disease.

Methods: In this study, we retrospectively collected the clinical data of the members in the pedigree with Fabry disease, then the clinicopathologic features of the male proband were analyzed by renal biopsy, and GLA gene was detected by PCR and direct sequencing.

Results: 1) The proband was characterized by pigmentation of bilateral lower extremities, episodes of neuropathic pain, and renal dysfunction.

[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease].

Objective: To identify the responsible mutation of autosomal dominant polycystic kidney disease (ADPKD) in two Chinese families.

Methods: Total genomic DNA of all available family members and 100 unrelated healthy controls was extracted from peripheral blood leukocytes using a standard phenol-chloroform procedure. All exons with intronic flanking sequences of the PKD1 and PKD2 genes in the probands were amplified by PCR.

[Recent advances in studies on autosomal dominant adult polycystic kidney disease].

Adult polycystic kidney disease (APKD) is a severe autosomal dominant inheritable renal disease with high incidence. Because of the late-onset of the disease, patients might have transferred the disease gene to the next generation when diagnosis is made. Since its pathogenic molecular mechanism is still not completely clear and the shortage of effective medicines, the prevention and treatment of the disease is still not satisfactory.