1.Relationship between pain severity, emotion and beliefs
Xingling YANG ; Yanna WANG ; Huiyue HUANG ; Youdao LIANG ; Huiju LI ; Yiwei AN ; Qimei JIN
Chinese Journal of Practical Nursing 2017;33(13):970-974
Objective To analyze the relationship between pain sensation, emotion and recognition in three dimensions. Methods By using questionnaires which contained general information questionnaire, Cancer Pain Questionnaire, Self-reporting Inventory (SCL-90), Pain Beliefs and Perceptions Inventory (PBPI) to investigate pain sensation, emotion and recognition of 46 patients with cancer pain. Results There were 13(28.3%) cases sufferd from mild pain,17 (37.0%) cases were moderate pain, 16 (34.8% )cases were severe pain.As to the result of SCL- 90,patients showed obvious symptom in somatization, depression, anxiety and hostility.They holded deep belief of that pain was very mysterious. There was a significant correlation between pain severity and depression(rs=0.377) , anxiety(rs=0.388) on the condition that confidence level was 0.01;there was also a significant correlation between pain degree and interpersonal sensitivity(rs=0.308), hostility(rs=0.320) on the condition that confidence level was 0.05. As to pain beliefs, pain degree had a significant correlation with it in the dimension of pain as mystery (rs=0.529) and pain was persistent(rs=0.680) on the condition that confidence level was 0.01. Conclusions The survey shows a positive correlation between pain severity,emotion of pain(such as anxiety,depression, hostility and interpersonal sensitivity)and beliefs about pain as mystery or permanent.
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.