1.Expert consensus on the management of auditory hallucinations in inpatients with mental illness
Yanhua QU ; Dongmei XU ; Jing SHAO ; Shan ZHANG ; Mengqian ZHANG ; Jianing GU ; Xiaolu YE ; Feifei LI ; Wei LUO ; Wanting LI ; Li WANG ; Fangzhu SHI ; Xiaoyu FENG ; Qian ZHOU ; Juan ZHAO
Chinese Journal of Practical Nursing 2024;40(14):1080-1090
Objective:To standardize the management of auditory hallucination symptoms in inpatients with mental illness and develop an expert consensus on the management of auditory hallucinations in hospitalized psychiatric patients.Methods:From March 2023 to July 2023, the Mental Health Committee of the Chinese Nursing Association focused on the key issues in the management of auditory hallucinations symptoms in inpatients with mental illness, based on clinical practice, using literature analysis combined with the work experience of mental health experts, and formed the first draft of the expert consensus on the management of auditory hallucinations in inpatients with mental illness (hereinafter referred to as the consensus). Through 3 rounds of expert consultation and 3 rounds of expert demonstration meeting, the draft was adjusted, revised, and improved.Results:37 experts were included in the Delphi expert consultation, 1 male and 36 females with 39-67(51.48 ± 6.61) years old. The positive coefficients of experts in 3 rounds of Delphi expert consultations were all 100%, and the degrees of expert authority were 0.924, 0.938 and 0.949, respectively. The average importance value of each item was higher than 4.00, the variation coefficient of each item was less than 0.25. The Kendall harmony coefficient of the experts were 0.179, 0.195 and 0.198, respectively (all P<0.05). There were 15, 12, 12 experts in the first, seeond, third rounds of expert demonstration meeting. Finally, a consensus was reached on the recommendation of 4 parts, included auditory hallucination assessment, management format, symptom management implementation, and precautions. Conclusions:The consensus covers all parts of the management of auditory hallucination symptoms in hospitalized patients with mental disorders, which is practical and scientific. It is helpful to guide mental health professionals to standardize the management of auditory hallucination symptoms, improve the quality of nursing and ensure the safety of patients.
2.Construction of a Discharge Preparation Service Demand Assessment Scale for Psychiatric Patients with Depression
Wei LUO ; Dongmei XU ; Jing SHAO ; Hui YU ; Xiao LIU ; Lihui LI ; Mengqian ZHANG ; Yanhua QU ; Xiaolu YE ; Hongting CHEN ; Li WANG ; Junxiang CHENG
Chinese Journal of Modern Nursing 2023;29(35):4849-4854
Objective:To construct a Discharge Preparation Service Demand Assessment Scale for Psychiatric Patients with Depression.Methods:Convenience sampling was used to select 25 experts from fields such as psychiatric nursing, psychiatric management, and rehabilitation treatment as the subject of the consultation. On the basis of literature review and clinical experience, the research group used the Delphi method to conduct two rounds of consultation with 25 experts, forming a Discharge Preparation Service Demand Assessment Scale for Psychiatric Patients with Depression. The enthusiasm of experts was evaluated using the effective response rate of the questionnaires. The authority level of experts was assessed using an authority coefficient. The concentration of expert opinions was evaluated using the mean of item importance assignment and coefficient of variation. The degree of coordination of expert opinions was represented by the Kendall coordination coefficient.Results:The effective response rates of the two rounds of consultation questionnaires were all 100%, with expert authority coefficients of 0.890 and 0.904, and the Kendall coordination coefficients of expert opinions of 0.247 and 0.203 ( P<0.05) . The Discharge Preparation Service Demand Assessment Scale for Psychiatric Patients with Depression was constructed, which included 10 dimensions and 38 items. Conclusions:The Discharge Preparation Service Demand Assessment Scale for Psychiatric Patients with Depression is scientific and reliable, which can provide a basis for clinical nurses to evaluate the discharge preparation service demands of psychiatric patients with depression.
3.Mutation analysis and phenotypic investigation in patients with primary distal renal tubular acidosis
Wencong GUO ; Bingzi DONG ; Ruixiao ZHANG ; Zhiying LIU ; Qing XIN ; Xiaomeng SHI ; Yue HAN ; Yanhua LANG ; Xiangzhong ZHAO ; Yan CAI ; Qingqing YOU ; Yan SUN ; Huasheng DU ; Leping SHAO
Chinese Journal of Nephrology 2021;37(9):712-722
Objective:To analyze the gene variants in patients with primary distal renal tubular acidosis (dRTA), and explore the correlation between the genotype and phenotype.Methods:The Sanger direct sequencing or whole-exome sequencing was used to identify causal variants and the variation pathogenicity was evaluated according to 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines in 44 dRTA patients (37 families) diagnosed in the Affiliated Qingdao Municipal Hospital of Qingdao University and the Affiliated Hospital of Qingdao University from April 2010 to September 2020. The clinical features of the patients were summarized, and the correlation between the genotype and phenotype was investigated.Results:Seven variants of SLC4A1 gene, 17 variants of ATP6V0A4 gene, and 15 variants of ATP6V1B1 gene were identified in 44 patients with dRTA, and of which 11 variants were new ones. According to ACMG guidelines, the pathogenic, likely pathogenic, benign variants among the 39 variants were 22, 16 and 1, respectively. Nine patients were autosomal dominant hereditary dRTA caused by SLC4A1 gene mutation, 4 patients with autosomal recessive hereditary dRTA complicated with Southeast Asian ovalocytosis and anemia were caused by SLC4A1 gene mutation, and 14 patients caused by ATP6V0A4 gene mutation and 8 patients caused by ATP6V1B1 gene mutation were autosomal recessive hereditary dRTA; Two children with dRTA were found to carry one monoallelic defect in ATP6V1B1, and no causal gene mutation was identified in 7 patients. One patient showed incomplete dRTA, and the other 43 patients showed complete dRTA. The prevalence of sensory neural hearing loss caused by ATP6V0A4 and ATP6V1B1 mutation were 2/14 and 6/10 respectively. The frequency of chronic kidney disease in adults, children and infants were 4/4, 2/4, and 1/36, separately. After the drug treatment based on potassium citrate and sodium citrate, the growth and development (28/40) and electrolyte disturbance (41/44) of most patients were significantly improved. Conclusions:The present study has identified 39 variants of SLC4A1, ATP6V0A4 and ATP6V1B1 genes in 44 patients with dRTA, including 11 novel ones. There is a close relationship between genotype and phenotype in dRTA patients and most patients' conditions were improved after proper treatment. This study enriches the human gene mutation database and provides valuable references for diagnosis, treatment and genetic counseling in patients with dRTA.
4. Mutation analysis of KCNJ1 gene and investigation of phenotype in 5 Chinese patients with Bartter syndrome type 2
Yue HAN ; Yanhua LANG ; Shujiao XIAO ; Xiaomeng SHI ; Sai WANG ; Ruixiao ZHANG ; Wencong GUO ; Xiangzhong ZHAO ; Leping SHAO
Chinese Journal of Nephrology 2020;36(2):115-122
Objective:
To identify and analyze the variants of the
5.Preservation of supraclavicular nerve in fixation of clavicular fracture
Xibin PAN ; Kuanhai WEI ; Longzhou GUAN ; Guoxiong CAI ; Bin CHEN ; Yunxiang ZHONG ; Shao-Quan HUANG ; Jian ZHANG ; Yanhua XIE
Chinese Journal of Orthopaedic Trauma 2020;22(4):351-355
Objective:To investigate the clinical significance of preserving supraclavicular nerve in the reduction and fixation of clavicular fracture.Methods:A retrospective study was conducted of the 68 pa-tients with clavicular fracture who had been treated surgically from October 2016 to April 2018 at Department of Orthopedics and Traumatology, Heyuan Hospital of Traditional Chinese Medicine.They were 35 males and 33 females, aged from 25 to 45 years (average, 34.8 years).The supraclavicular nerve was preserved in the re-duction and fixation of clavicular fracture in 32 patients (reservation group) but not in the other 36 ones (control group).The 2 groups were compared in terms of operation time, intraoperative blood loss, fracture healing time; postoperative pain tolerance, feeling (by the British Medical Research Council assessment), shoulder function (by the Constant-Murley scoring) and impact of numbness on life.Results:The 2 groups were compatible due to insignificant differences in the general clinical data between them ( P>0.05).All the 68 patients were followed up for 12 to 26 months (average, 15 months).There was no significant difference between the 2 groups either in intraoperative blood loss or fracture healing time ( P>0.05).The preservation group had significant longer operation time (72.6 min±7.2 min) than the control group (47.3 min±7.4 min), but a significantly lower rate of analgesic usage on the postoperative day [6.3%(2/32)] than the control group [91.7%(33/36)] (both P<0.05).By the British Medical Research Council assessment, the postoperative feeling was rated as S3 or S4 in 93.8%(30/32) of the patients in the preservation group, significantly higher than the 72.2% (26/36) of the control group ( P<0.05).The preservation group was also significantly better than the control group in Constant-Murley scores of the injured shoulder [100.0 (93.5, 100.0) versus 87.0 (81.0, 89.0)] and impact of numbness on life [0 versus 50.0%(18/36)] (both P<0.05). Conclusion:In surgical treatment of clavicular fracture, preservation of the supraclavicular nerve can have a positive effect on reducing postoperative pain in the operative area and impact of numbness on life.
6.Variant analysis and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3
Yue HAN ; Yanhua LANG ; Yi LIN ; Leping SHAO
Chinese Journal of Nephrology 2019;35(7):499-506
Objective To analyze the variants of 42 Chinese patients with Bartter syndrome type 3 (BS3) and explore the characteristics of genotype and phenotype. Methods Forty-two genetically diagnosed patients from 40 Han and one Hui families were collected in the Affiliated Hospital of Qingdao University and the Affiliated Qingdao Municipal Hospital of Qingdao University during the period of June 2012 to October 2018. The second-generation sequencing and multiplex ligase probe-dependent amplification (MLPA) technique were used to analyze the CLCNKB gene variation and its characteristics in children with BS3. The clinical data were collected, and the therapeutic effect and growth improvement were observed and followed up. Thirty eight patients were divided into severe (n=26) and light (n=12) groups according to the severity of genetic variation. The clinical phenotypic characteristics of the two groups were compared. Results Thirty-six variants including 16 novel ones of CLCNKB gene were found. The whole gene deletion of CLCNKB gene was the most frequent mutation (40%), and the rate of large deletions was up to 55%. The most common symptoms included development retardation (38/42), polydipsia and polyuria (35/42), constipation (31/42) and vomiting (27/42). All patients presented with hypokalemia, hypochloremia and metabolic alkalosis. After the medicine treatment that based on indomethacin and potassium chloride, most patients could achieve obvious recovery of growth rate and restoration of hypokalemia. The severe group showed more severe metabolic alkalosis than the light group. Conclusions Thirty-six variants of CLCNKB gene have been found in this study, including 16 novel ones, which enrich the human gene mutation database (HGMD) and provide valuable references to diagnosis, treatment and the genetic counseling of Chinese population.
7.Research progress on ViewRay magnetic resonance guided radiotherapy system
Yanchen YING ; Hua CHEN ; Hao WANG ; Hengle GU ; Yanhua DUAN ; Yan SHAO ; Aihui FENG ; Hongxuan LI ; Xiaolong FU ; Zhiyong XU
Chinese Journal of Radiological Medicine and Protection 2019;39(4):316-320
ViewRay magnetic resonance (MR) guided radiotherapy system not only solves the problem of imaging dose,but also can set up accurately,online adaptive radiotherapy and gated irradiation according to magnetic resonance imaging (MRI).The development of this system provides a new technical means of accurate radiotherapy.This review describes the main structure of the ViewRay system,and summarizes quality assurance (QA),dosimetric comparison,respiratory motion management,online adaptive radiotherapy,and preliminary treatment effect.
8.TSC gene in a family with tuberous sclerosis complicated with giant bilateral renal angiomyolipoma
Ruixiao ZHANG ; Jianhong WANG ; Qing WANG ; Yue HAN ; Yanhua LANG ; Xuejun LIU ; Leping SHAO
Chinese Journal of Neuromedicine 2019;18(1):76-79
Objective To describe the clinical characteristics of a family with tuberous sclerosis (TSC) complicated with giant bilateral renal angiomyolipoma,and to analyze the causal genetic mutations.Methods All coding regions of TSC1 gene and TSC2 gene were analyzed by next generation sequencing.The potential effect on abnormal splicing was confirmed by minigene assay based on the pSPL3 exon capture vector and was validated in vivo with the patient's RNA.Results The clinical manifestations of the proband were typical.Bilateral large renal angiomyolipomas were her principal clinical features.Besides,facial angiofibroma,periungual fibroma,lung lymphangioleiomyomatosis and subependymal nodule were also noted.A novel heterozygous variant of TSC2 gene (c.3610G>A) was identified.On the protein level,this variant was presumed to be missense mutation (p.Glyl204Arg);however,the splicing assay revealed that this mutation also led to aberrant splicing with the whole exon 29 skipping on the transcripts level.Conclusion A novel mutation c.3610G>A,contributing to aberrant splicing and missense alteration (p.Glyl204Arg),is identified in association with TSC.
9.Mutation analysis of 5 children with primary distal renal tubular acidosis
Ruixiao ZHANG ; Yanhua LANG ; Yanxia GAO ; Zeqing CHEN ; Cui WANG ; Jingru LU ; Leping SHAO
Chinese Journal of Nephrology 2018;34(6):410-417
Objective To analyze the mutations of causal genes in 5 children with primary distal renal tubular acidosis (dRTA),and explore their association of genotype and phenotype,so as to raise the awareness of the disease.Methods The whole exome sequencing was used to identify mutations in these 5 children from 5 families.Results A total of 4 different mutations of ATP6V0A4 gene were found in 2 dRTA children,including a novel heterozygous intron mutation (c.639 + 1G> A),a reported heterozygous nonsense variant (c.580C >T,p.Arg194*) and 2 novel heterozygous duplications (c.1504dupT,p.Tyr502Leufs*22;c.2351dupT,p.Phe785Ilefs*28).Two novel heterozygous missense mutations of ATP6V 1B 1 gene (c.409C > T,p.Pro 137Ser;c.904C > T,p.Arg302Trp) were identified in the third child,and a heterozygous missense mutation of SLC4A1 gene (c.1765C > A,p.Arg589Ser) previously reported was found in the fourth child.No mutation of the dRTA-related causal genes was found in the fifth child.Furthermore,the mutations of causal genes in each of the first three children were compound heterozygous,which were consistent with the autosomal recessive inheritance pattern,and the variant from the fourth child was de novo.Conclusions The present study has found 7 mutations,including 5 novel variants,which enriches the human gene mutation database (HGMD) and contributes to a better understanding of the disease mechanisms.
10.Genotype, phenotype, and follow-up of Chinese patients with Gitelman's syndrome
Leping SHAO ; Jingru LU ; Yanhua LANG ; Limin ZHOU ; Cui WANG ; Ting LIU
Chinese Journal of Endocrinology and Metabolism 2017;33(1):40-46
Objective To analyze the characteristics of the genotype, phenotype, and follow-up of Gitelman's syndrome (GS) in the largest group of Chinese patients. Methods Sixty seven patients with GS underwent SLC12A3 gene analysis. Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed. Additionally, the associations of genotypes and phenotypes were explored. Results Forty-one different SLC12A3 mutations were identified in 67 patients with GS, including 11 novel ones, and 5 recurrent ones. 3 families (5. 7% ) had triple SLC12A3 mutations. Typical hypocalciuria and hypomagnesemia were not found in 6(9% ) and 8 (11. 9% )patients, respectively. In addition, male patients had an earlier age of onset and a higher urinary fraction excretion of electrolytes. 2 patients presented with chronic kidney disease, 13 (19. 4% ) with type 2 diabetes, 14 (20. 9% )with impaired glucose tolerance, and 5(7. 5% ) with impaired fasting glucose. Conclusion This study revealed 41 mutations in 67 Chinese patients with GS, including 11 novel variants and 5 high-frequency ones. Fraction excretion of electrolyte in urine may be more sensitive in the evaluation of phenotype compared with those of blood. It is difficult to correct hypokalemia and hypomagnesemia in GS. Patients with GS are at higher risk of the development of diabetes than ordinary people.

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