1.Self management status and influencing factors of schizophrenia patients in community
Qimei HU ; Hongfen XIE ; Shan XUE ; Lianghua SHI ; Guimei WANG ; Lei SHEN
Chinese Journal of Practical Nursing 2017;33(2):140-143
Objective To investigate the present situation and analyze the influence factors of self-management ability of schizophrenic patients in community. Methods A total of 122 cases of schizophrenic patients in community that have been discharged from Zhenjiang Mental Health Center were investigated and analyzed by general information questionnaire, Schizophrenia Self-Management Ability Scale, quality of life and Social Support Rating Scale. Results The scores of self-management ability of schizophrenic patients in community were (68.74 ± 10.24) points. Multiple stepwise regression analysis showed that long-term medication (t =2.351, P<0.05), degree of education(t =2.385, P<0.05), community rehabilitation guidance (t =3.813, P<0.01) and social support (t=2.768, P<0.01) were the influence factors of self-management ability of schizophrenic patients in community. Conclusions Schizophrenia patients in community medical staff should be aimed at strengthening the long-term medication in community rehabilitation guidance and social support, improvement, and strengthen the low degree of culture of patient care, to improve the ability of self-management.
2.Hypomagnesemia, seizures, mental retardation caused by heterozygous mutation of CNNM2: a case report and literatures review
Chunxiang LIU ; Yu ZHANG ; Lan HU ; Qimei HUANG
Journal of Chinese Physician 2023;25(12):1781-1784
Objective:To analyze the clinical characteristics of a case of CNNM2 gene heterozygous mutation causing hypomagnesemia epilepsy mental retardation (HOMGSMR1) [MIM: 616418] in a child, and explore the association between genotype and phenotype.Methods:We followed up and retrospectively analyzed the clinical characteristics of a case of HOMGSMR1 caused by CNNM2 gene heterozygous mutation treated at Maternal and Child Health Care Hospital of Liuyang. Through whole exome sequencing of the family and bioinformatics analysis of the original data, we consulted databases and literature materials such as Online Mendelian Inheritance in Man (OMIM), ClinVar, gnomAD, GeneReviews, Pubmed, and China National Knowledge Infrastructure (CNKI), The American College of Medical Genetics and Genomics (ACMG) guidelines were used to rate heterozygous deletion mutations in the locked CNNM2 gene.Results:Patient, male, 3 months and 18 days old, mother gave birth to 1 child with 1 pregnancy, recurrent convulsions for more than 10 days, and multiple tests showed that blood magnesium levels were below normal, fluctuating between 0.51-0.55 mmol/L; After oral administration of " oxcarbazepine" and " magnesium sulfate", convulsions improved and blood magnesium concentration increased, but remained below normal, with the highest being 0.61 mmol/L. The sequencing results of the whole exome display of the family showed that the child carried a heterozygous deletion mutation in the exon region of the CNNM2 gene (c.838_843delATGGCCp. M280-A281del), which was not detected in their parents, indicating a new mutation. The large-scale population frequency database gnomAD did not include this mutation, and no literature reported this mutation. According to the ACMG guidelines, it was rated as a suspected pathogenic variant. The pathogenic variation of this gene can lead to autosomal dominant HOMGSMR1, which was consistent with genetic patterns.Conclusions:CNNM2 gene c. 838_ 843delATGGCC (p.M280_A281del) is a suspected pathogenic variant in this patient, with genotype and phenotype matching and heterozygous mutations following genetic patterns. Autosomal dominant inheritance is the molecular cause of clinical manifestations in this patient, and it is an unreported novel mutation.