1.The analysis of death risk factors for peritoneal dialysis patients and nursing countermeasures
Chinese Journal of Practical Nursing 2015;31(14):1051-1053
Objective To induce and analysis the death relative factors of peritoneal dialysis patients over the past five years in fourth ward of qiandongnan from guizhou province guiyang medical college affiliated people's hospital in endocrinology and to improve the effect of nursing intervention.Methods 492 peritoneal dialysis patients were retrospective analyzed from Mar 2009 to Mar 2014,in order to conclude the causes of the patients that ending with death (n =89) and to formulate targeted nursing measures.Results The primary disease for death of maintained peritoneal patients was cardiovascular events [41.6%(37/89)],and the second factor was infection [32.6%(29/89)].The risk factors for mortality were age (≥70 years old),diabetes,endogenous creinine clearance rate declined [<50 L·week-1 ·m-2],change of hemodialysis to peritoneal dialysis and higher peritoneal transport status.Conclusions It's important to strengthen the nursing intervention for the peritoneal dialysis patients with coronary heart disease,and to formulate targeted nursing measures for risk factors,so as to avoid the death.
2.Study current situation of reproductive tract infection among bearing age married women in countryside and influence factors
Kunzhen XU ; Shaoman JIANG ; Chulong SHU ; Miaojuan ZENG ; Xiaoyan LAN ; Yingzi GUO ; Jinghao LIN ; Cheng FANG ; Yidong WU
Chinese Journal of Primary Medicine and Pharmacy 2009;16(1):89-91
Objective To study the current situation of reproductive tract infection among bearing age mar-fled women in countryside and influence factors. Methods We had examined 4916 women. Questionnaire investiga-tion,gynecologic examination,the inspection of pathogen and the B-ultrasound were collected by face to face in the clinic. Results The general prevalence rate of RTI was 53.93%. The prevalence rates of pelvic infection and cervici-tis were 3.97% and 51.12%. The prevalence rates of germs, trichomonal and candiclal vaginitis were 12.51%, 3.60% and 7.71% respectively. The infection rate for only one,two or three kind of RTI were 33.08% ,19.73% and 1.08% respectively. The influence factors were : age, education, family economy, sanitary habits, graviclity, frequent in-tercourse,induced abortion and knowledge towards RTI. Conclusion Among bearing age married women in country-side province the prevalence rate of RTI was higher and also showed evidence of some influence factors.
3.Developmental epileptic encephalopathy associated with the CACNA1E gene mutation
Hongting SU ; Miaojuan WU ; Jiehui MA ; Dan SUN
Chinese Journal of Applied Clinical Pediatrics 2023;38(5):391-393
One of the important causes of developmental epileptic encephalopathy (DEE) is the mutation of ion channel genes, including the mutation of the CACNA1E gene. CACNA1E-related DEE cases were first reported in 2018.The mutation types include new missense mutations, nonsense mutations and frameshift mutations, but the correlation between mutation sites and types with the phenotype of DEE is not clear.This review aims to summarize the reported CACNA1E-related DEE cases, and explore the correlation between the clinical phenotype of CACNA1E-related DEE and gene mutation sites and mutation types.Meanwhile, possible pathogenesis of CACNA1E-related DEE and the progress of drug intervention were reviewed to provide references for the diagnosis and precise treatment of DEE.
4.Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review
Miaojuan WU ; Chunhui HU ; Jiehui MA ; Jiasheng HU ; Zhisheng LIU ; Dan SUN
Chinese Journal of Pediatrics 2021;59(7):594-599
Objective:To explore the clinical features of three early-onset infantile epileptic encephalopathy (EIEE) patients with variations in phosphofurin acidic cluster sorting protein 2 (PACS2) gene and to review related literature.Methods:The clinical data and genetic features of three early infantile epileptic encephalopathy 66 (EIEE66) patients with a PACS2 gene variant diagnosed by the Department of Neurology, Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2019 to January 2020 were retrospectively analyzed. A literature search with "PACS2 gene" "PACS2" "epileptic encephalopathy, early infantile, 66" and"early infantile epileptic encephalopathy 66" as key words was conducted at PubMed, China National Knowledge Infrastructure (CNKI), and Wanfang Data Knowledge Service Platform (up to July 2020). Case reports of patients with PACS2 gene variants and related clinical data were chosen and reviewed.Results:Case 1, a girl aged 2 years and 2 months was hospitalized because of repetitive seizures within more than two years and 6 convulsions within 2 days due to fever. The seizures occurred at the age of 7 days, characterized by focal seizures and generalized tonic-clonic seizures. Sometimes, the frequency of seizures increased with high fever. Regular treatment had not been implemented in the early stage, later seizures were controlled by valproic acid treatment. Case 2, a female 5 months of age, was admitted due to recurrent convulsions in nearly five months. Focal seizures occured at the age of 5 days. And the brain magnetic resonance imaging (MRI) confirmed abnormal cerebellar hemispheres and cerebellar vermis, as well as cerebellar dysplasia. Several antiepileptic drugs and ketogenic diet were ineffective in the early months, and later seizures were controlled with the treatment with levetiracetam and valproic acid. Case 3, a five-month-old girl, was admitted because of recurrent convulsions for nearly five months. At the age of 3 days, she had tonic seizures, and showed good response to levetiracetam and valproic acid. All the three cases were accompanied by development delay and dysmorphic facial appearance, and got seizure-free with the treatment with valproic acid. All copy-number variant analysis and trio whole exome sequencing revealed a recurrent heterozygous missense variant (c.625G>A) in PACS2 gene. No related reports were found in Chinese journals, while 4 reports were found in English literature, describing 17 patients in total. With these 3 patients included, 20 cases had only two missense PACS2 gene variants, in whom 19 cases carried the variant c. 625G>A (p.Glu209Lys) and 1 case carried the variant c. 631G>A (p.Glu211Lys). Epilepsy was the first reported symptom in all patients, and 17 cases had seizures during the first week of life. Out of the various seizure types observed, focal seizures were the predominant types (13 cases), whereas tonic, clonic, tonic-clonic seizures and non-motor seizures (such as facial flushing) were also reported. Almost all patients showed facial dysmorphism and developmental delay to different degrees. Total of 16 patients had abnormal brain MRI recordings, and 13 cases had cerebellar hypoplasia. More specifically, 7 cases showed inferior vermian hypoplasia, and 3 cases showed hypothalamic fusion anomaly. The treatment was mainly aimed to control the symptoms. And the recommended effective treatment for epilepsy has not been reported yet.Conclusions:PACS2-related early infantile epileptic encephalopathy is an autosomal dominant disease, characterized by seizure onset within the first week of life in most cases, dysmorphic facial appearance, and various degrees of developmental retardation. Treatment with valproic acid showed good effect.