Objective To explore the relationship between microelement intake and metabolic syndrome (MS) in elderly males and females in Zhejiang province. Methods Non-parametric Kruskal-Wallis tests were used to compare the intake of microelements by sex among different groups according to the diagnostic criteria of MS in 780 people(404 male,376 female).Logistic regression was used to explore the association between microelements and MS and its components.Results The percentages of inadequate intake of Mn,Zn and Se were relatively high among elderly people of Zhejiang province(males:30.45%,72.52%,75.74%;females:47.34%,33.78%,80.59%,respectively).Microelement intake in males were higher than females(P<0.05).The intake of Fe and Se were higher in the abdominal obesity group than the non-abdominal obesity group among elderly males,the intakes of Fe,Zn,Se in hypertension group were lower, and Se intake was higher in hyperglycemia and hypertriglyceridemia groups. Furthermore, enough intake of Fe(odds ratio OR,0.41;95% confidence interval CI:0.19,0.87)and Se(OR,0.30;95% CI:0.14, 0.63)decreased the risk of hypertension,and high Cu(OR,2.35;95% CI:1.18,4.71)intake increased the risk of hyperglycemia.Among females,Zn intake in the MS group was lower than in the non-MS group;the intakes of Cu, Zn and Se in the hypertension group were lower; the intakes of Fe, Mn and Zn in the hyperglycemia group were lower as well;and Se intake was lower in the low HDL-C group.Again,the high intake of Zn (OR, 3.21; 95% CI: 1.36, 7.59) and Se (OR, 2.79; 95% CI: 1.24, 6.27) increased the risk of abdominal obesity, but moderate intake of Cu (OR, 0.37; 95% CI: 0.19, 0.72) had a protective effect on hypertension. Conclusions The percentages of inadequate microelement intake were relatively high in elderly people of Zhejiang province. There is a relationship between dietary microelements and MS or its components. It is necessary to guide elderly people to adopt reasonable diet by referring to the Chinese dietary reference intake and Dietay Guidelines in order to improve the situation of microelements intake and promote health.

OBJECTIVE: To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis. METHODS: A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4). CONCLUSION The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.
Male ; Humans ; Neurofibromatosis 2/genetics* ; Genes, Neurofibromatosis 2 ; Oculomotor Nerve Diseases/genetics* ; Computational Biology ; Genomics ; Mutation