ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a child suspected for β-ketothiolase deficiency by neonatal screening.@*METHODS@#All coding exons and flanking sequences of the ACAT1 gene were subjected to targeted capture and high-throughput sequencing. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor compound heterozygous variants of the ACAT1 gene, namely c.121-3C>G and c.275G>A (p. Gly92Asp). The c.121-3C>G variant was also detected in his father and two sisters, while the c.275G>A (p. Gly92Asp) was a de novo variant. A c.334+ 172C>G (rs12226047) polymorphism was also detected in his mother and two sisters. Sanger sequencing has verified that the c.275G>A (p. Gly92Asp) and c.334+172C>G (rs12226047) variants are located on the same chromosome. Bioinformatics analysis suggested both c.121-3C>G and c.275G>A (p.G92D) variants to be damaging. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.275G>A variant of the ACAT1 gene was predicted to be pathogenic (PS2+ PM2+ PM3+ PP3+PP4), the c.121-3C>G variant to be likely pathogenic (PM2+ PM3+ PP3+PP4).@*CONCLUSION@#The c.121-3C>G and c.275G>A variants of the ACAT1 gene probably underlay the pathogenesis of the child. Above finding has enriched the variant spectrum of the ACAT1 gene.
Subject(s)
Female , Humans , Infant, Newborn , Male , Acetyl-CoA C-Acetyltransferase/genetics , Acetyl-CoA C-Acyltransferase/genetics , Amino Acid Metabolism, Inborn Errors/genetics , High-Throughput Nucleotide Sequencing , MutationABSTRACT
Objective To observe the efficacy and safety of citalopram in the treatment of behav-ioural and psychological symptoms of dementia(BPSD)and cognitive function of Alzheimer's disease(AD) patients.Methods From April 2015 to February 2016,80 cases of moderate Alzheimer's disease(according to the clinical dementia rating scale,CDR)with symptoms of BPSD in Qingdao Mental Health Center were collected and randomly divided into treatment group and control group.Treatment group was given citalopram (10 to 30 mg/d),the control group was given the same dose of placebo,and the patients in both group were given memantine(10 mg/bid)for 12 weeks.Simple mental state examination(MMSE)was used to measure cognitive function.Neural psychiatric questionnaire(NPI)measurement was used to evaluate BPSD and the TESS was used to assess adverse effects.Results Decreased scores of MMSE between the treatment group and the control group were respectively(0.67±0.77)and(0.26±0.68)after 12 weeks of treatment.There was significant difference in decreased scores of MMSE between the two groups(t=2.49,P=0.02).The scores of NPI in agitation/attack(t=2.986,P=0.04),apathy(t=3.144,P=0.002),indifference/dysthymia (t=6.094,P=0.000)and anxiety(t=6.496,P=0.000)showed statistically significant differences between the two groups.There were no significant difference in TESS scores(P>0.05).The most frequently adverse e-vents in the study included dizziness,headache,fatigue and nausea.QTc interval prolongation were found in participants treated with 30 mg citalopram per day in the study group.Conclusion Citalopram is an effec-tive and safe drug in the treatment of BPSD and cognitive function associated with moderate AD.
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Objective To explore the physiological and psychosocial risk factors of the patients with somatoform disorders and to provide references for clinical psychological intervention.Methods Totally 60 patients with somatoform disorder and 60 normal controls were tested with biochemical analyzer,electrocardiogram machine,electroencephalogram machine,computed tomographic scanner,general situation questionnaire,minnesota multiphasic personality inventory(MMPI),toronto alexithymia scale(TAS),life event scale(LES),defense style questionnaire(DSQ) and social support rating scale(SSRS) to explore the physiological and psychosocial risk factors of the patients with somatoform disorders.Results The score of immature defense styles of the study group(4.04±0.89) were higher than those in the control group(3.43 ± 0.65)with significant difference (P＜0.05).The total and factor scores of TAS of study group((86.20±11.15),(21.12±3.28),(26.08±3.86),(18.21±4.69),(23.44±5.60)) were higher than control group((65.00±10.12),(12.43±5.18),(15.64±5.57),(15.56±3.16),(18.71 ±4.30)) with significant difference (P＜0.05).The MMPI scale scores of Hs (hypochondriasis),D (depression),Hy (hysteria),Men-Nancy (Mf),Paranoid (Pa),Psychotic (Pt) were higher in patients with somatoform disorder ((72.79± 10.50),(68.46±13.63),(79.03±12.12),(51.72±7.74),(57.98±10.60),(54.98±8.83)) than those in normal controls((51.66±10.11),(47.96±9.42),(51.47±11.90),(43.66±8.77),(47.67±6.69),(47.48±8.67)) with significant difference(P＜0.05).The total life event score and the negative life event score of LES of the study group ((89.66±68.60),(82.65±65.16)) were higher than those in the control group((56.00±56.79),(39.14± 46.05)) with significant difference (P＜ 0.05).Multiple factors logistic regression analysis showed immature defense styles,higher alexithymia score,higher negative life event score,higher HS,D,Hy of MMPI may increase the risk of somatoform disorders(OR=6.84,9.12,5.83,2.69,1.81,11.20,P＜0.01).Conclusion Patients with somatoform disorder are almost in normal physiological condition.They have the personality characteristics and significant alexithymia.Their social support are almost normal,but they have more negative life events and their defense styles are almost immature.
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Objective To study the correlation of personality characteristics and plasma cortisol levels in the patients with generalized anxiety disorder.Methods According to Diagnostic and Statistical Manual of Mental Disorders (DSM-Ⅳ), 38 patients with generalized anxiety disorder and 39 normal controls were assessed with Hamilton anxiety scale (HAMA) , generalized anxiety disorder scale (GAD-7) , penn state worry questionnaire (PSWQ) , symptom checklist-90(SCL-90) and eysenck personality questionnaire (EPQ).Electrochemiluminescence was used to test plasma cortisol concentration.Results The EPQ-N score in the patients was significantly higher than that in normal controls(t=14.307, P＜0.01).Furthermore,N score in the patients showed a significantly positive correlation with HAMA total score, SCL-90 total score, somatization score, interpersonal sensitivity score, depression score and anxiety score (r=0.492-0.977, P＜0.01).Plasma cortisol levels in patients with generalized anxiety disorder((668.50±60.22) nmol/L) were significantly higher than those ((345.35±58.91) nmol/L) in normal controls (t=23.802, P＜0.01).Plasma cortisol concentrations displayed a significantly positive correlation with N score, GAD-7, PSWQ, HAMA total score, SCL-90 total score, somatization score, interpersonal sensitivity score, depression score, and anxiety score (r =0.501-0.995, P＜ 0.01).Conclusion Plasma cortisol levels in the patients with generalized anxiety disorder are higher than those in normal controls.Plasma cortisol levels are related to the mental health.Patients with generalized anxiety disorder tend to be neuroticism.
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Objective To study the alexithymia and personality characteristics in patients with somatoform disorders.Methods Totally 60 patients with somatoform disorders and 60 normal controls were tested with Toronto alexithymia scale (TAS) and Minnesota Multiphasic Personality Inventory (MMPI).Results The patients with somatization disorders showed alexithymia and personality base.The total and factor scores of TAS of study group((86.20 ± 11.15),(21.12 ± 3.28),(26.08 ± 3.86),(18.21 ± 4.69),(23.44 ±5.60)) were higher than controlled group((65.00 ± 10.12),(12.43 ±5.18),(15.64 ±5.57),(15.56 ±3.16),(18.71 ±4.30)) with significant difference (t =2.11-6.22,P =0.000-0.042).The MMPI scale scores of Hs (hypochondriasis),D (depression),Hy(hysteria),Men-Nancy(Mf),paranoid(Pa),psychotic(Pt) were higher in patients with somatoform disorders ((72.79 ± 10.50),(68.46 ± 13.63),(79.03 ± 12.12),(51.72 ± 7.74),(57.98 ± 10.60),(54.98 ±8.83)) than those in normal controls ((51.66 ± 10.11),(47.96 ±9.42),(51.47± 11.90),(43.66 ±8.77),(47.67 ± 6.69),(47.48 ±8.67)) with significant difference (t =2.56-6.86,P =0.000-0.015),especially the scale scores of Hy and Hs were the most significantly among those (T ＞ 70).There was close correlation between personality traits and alexithymia.Factor Ⅰ was positively related to depression,paranoid and psychotic,the relevancy was 0.454(P =0.023),0.405 (P=0.044),0.477 (P=0.016) respectively,besides Factor Ⅱ was also positively related to depression,and the relevancy was 0.437(P=0.029).Conclusion Patients with somatoform disorders have the alexithymia and the personality characteristics,and there are close relationship between them.