Clinical and genetic analysis of a patient with primary distal renal tubular acidosis due to variants of ATP6V0A4 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of a patient with primary distal renal tubular acidosis (dRTA).@*METHODS@#A child who was diagnosed with primary dRTA at the Xi'an Children's Hospital in April 2021 due to poor appetite and persistent crying was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members.@*RESULTS@#The child, a 1-month-and-18-day male, had featured poor appetite, persistent crying, poor weight gain and dehydration. Laboratory examination has suggested metabolic acidosis, hyperchloremia, hypokalemia, abnormal alkaline urine and anemia. Ultrasonographic examination of the urinary system revealed calcium deposition in renal medulla. DNA sequencing revealed that he has harbored compound heterozygous variants of the ATP6V0A4 gene, namely c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM3+PM2_Supporting).@*CONCLUSION@#The compound heterozygous variants of c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X) of the ATP6V0A4 gene probably underlay the pathogenesis of primary dRTA in this patient. Discovery of the c.2257C>T (p.Q753X) variant has also expanded the mutational spectrum of the ATP6V0A4 gene.

Correlation between theory of mind and attempted suicide in adolescents with depressive disorder / 中华行为医学与脑科学杂志

Objective:To explore the difference of theory of mind between adolescent depressive disorder patients with and without suicide attempt and its correlation with depression severity.Methods:From September 2019 to April 2021, totally 56 cases of attempted suicide adolescent depression patients(suicide attempted group), and 78 non-attempted suicide adolescent depression patients (non-suicide attempted group) and 23 healthy controls (healthy control group) with matched sex, age and years of education were included.The 17-item Hamilton depression scale(HAMD-17) and mini-international neuropsychiatric interview (M. I. N. I. ) were evaluated in all the subjects for depression severity and suicide trait related clinical psychological scale, theory of mind-picture sequencing task (ToM-PST) includes primary belief, primary false belief, secondary belief, secondary false belief, third-level false belief, sense of reality, reciprocity, deception and deception detection, which were used to test the theory of mind of the three groups. SPSS 25.0 software was used to statistically analyze the data, compare the differences of ToM of the three groups, and Pearson correlation analysis was used to analyze the correlation between ToM of the attempted suicide group and the clinical behavior scale.Results:The suicide attempted group was significantly lower in understanding primary false belief ((2.46±0.63) vs (2.87±0.46)) than the healthy control group( P<0.05), and the understanding of deception((2.84±0.42) vs (2.63±0.61)) was significantly higher than the non-suicide attempted group( P<0.05), and the non-suicide attempted group was significantly lower in understanding primary false belief((2.48±0.72) vs ( 2.87±0.46)) and ToM total scores((50.86±6.60) vs (54.91±5.12)) than the healthy control group(both P<0.05). Pearson correlation analysis showed that the secondary false belief of the attempted suicide group were negatively correlated with the cognitive impairment( r=-0.267, P<0.05), and third-level false belief was negatively correlated with the cognitive impairment, retardation, and depressiontotal score( r=-0.331, r=-0.319, r=-0.269, all P<0.05). There was no significant correlation between primary belief, primary false belief, secondary belief, sense of reality, reciprocity, deception, deception detection, total score of picture ranking, total score of ToM and depression in suicide attempt group(all P>0.05). Conclusion:The ability to understand deception is different between depression adolescents with and without suicide attempt, and it is not correlated with the severity of depression.

Clinical and genetic analysis of five patients with familial male-limited precocious puberty / 中华内分泌代谢杂志

Objective:To analyze the clinical and genetic characteristics of five patients with familial male-limited precocious puberty(FMPP).Methods:The clinical data, laboratory and imaging results of the five patients with FMPP were collected. Whole exome sequencing was carried out to identify the potential variants. Suspected variants were verified by Sanger sequencing of family numbers.Results:Of the five patients, four were children and one was an adult. All the four children presented to hospital with premature sexual development at age less than 4 years. Serum testosterone was elevated, luteinizing hormone(LH) and follicle stimulating hormone(FSH) basal values were at prepubertal levels, and gonadotropin-releasing hormone(GnRH) stimulation test suggested peripheral precocious puberty. Genetic analysis revealed the mutations of LHCGR genes in all the five patients. Patients 1, 2, 3, and 4 carried the same heterozygous mutation c. 1713G>C(p.M571I), and the patient 5 carried the c. 1741T>C(p.C581R)variation. The four children were treated with anti-androgen preparations and the third-generation aromatase inhibitors, all of which were effective.Conclusion:The c. 1713G>C mutation of LHCGR gene is a novel one which expands the mutation spectrum of LHCGR gene. Combined treatment with bicaluamide and the third generation aromatase inhibitors can improve clinical symptoms and delay epiphyseal closure in children with FMPP.

Relationship between coping styles and anxiety status among middle school students in Anhui province during COVID-19 epidemic / 四川精神卫生

ObjectiveTo analyze the coping style and its relationship with anxiety status among middle school students aged 13 to 18 in Anhui province during the COVID-19 epidemic. MethodsFrom February 13 to 19， 2020， a cross-sectional survey was conducted among middle school students in Anhui province by using convenience sampling method and network questionnaire. The assessment tools included the Coping Style Scale for Middle School Students （CSSMSS） and the Screen for Child Anxiety Related Emotional Disorders （SCARED）. ResultsThe results of the CSSMSS evaluation showed that female students scored higher in emotion abreaction than male students ［（8.27±2.98） vs. （7.84±2.91）］. The scores of tolerance ［（9.74±2.73） vs. （9.11±2.60）］， escape ［（7.82±2.79） vs. （7.26±2.44）］， emotion abreaction ［（8.48±2.97） vs. （7.91±2.93）］ and fantasy/denial ［（9.79±3.56） vs. （9.26±3.47）］ of senior high school students were higher than those of junior high school students， and the score of problem solving ［（19.38±4.07） vs. （20.33±4.54）］ was lower than that of junior high school students， with statistical significance （P<0.05 or 0.01）. Correlation analysis results showed that the scores of tolerance， escape， emotion abreaction and fantasy/deny in CSSMSS were positively correlated with the scores of SCARED of middle school students in Anhui province （r=0.348， 0.287， 0.390， 0.501， P<0.01）. ConclusionDuring COVID-19 epidemic， students of different genders and grades in Anhui province have different coping styles， and some coping styles may induce anxiety status.

Correlative study of brain structure and suicidal ideation in patients with early-onset depression / 中华行为医学与脑科学杂志

Objective:To explore the difference of brain structure between patients with early-onset depression with and without suicidal ideation and its relationship with the severity of depression.Methods:Totally 37 patients with early-onset depressive disorder with suicidal ideation and 23 patients with early-onset depressive disorder without suicidal ideation were examined by psychological assessment and magnetic resonance imaging(MRI)from 2019 to 2020.Voxel-based morphometry (VBM) technology was used to compare the differences in brain structure between the two groups of subjects, and further analyze the relationship between the gray matter volume of the different brain areas and the severity of depression. The demographic and clinical data were analyzed by SPSS 24.0 statistical software package. The comparison between the two groups was performed by double sample t-test and chi square test. SPM8 software was used for VBM statistical analysis, and double sample t test was used for image analysis and comparison between the two groups. Pearson correlation analysis was performed between the mean gray matter volume of the two groups and the scores of HAMD-17 and Beck scale for suicide ideation(BSI). Results:Compared with the group without suicide ideation, the volume of gray matter in the right middle frontal gyrus(MNI: x, y, z=28.5, 33.0, 43.5, FWE correction for mass level, P<0.05)and left angular gyrus of the suicide idea group increased(MNI: x, y, z=-37.5, -73.5, 48.0, FWE correction for mass level, P<0.05). There was no significant correlation between the gray matter volume of the right middle frontal gyrus and the HAMD-17 scale, BSI scale in patients with early-onset depression ( r=0.073, r=-0.153, both P>0.05). Conclusion:There are structural differences in the right middle frontal gyrus and left angular gyrus between patients with early-onset depression with suicidal ideation and patients with early-onset depression without suicidal ideation, and there was no significant correlation between gray matter volume and depression severity.

An ABCC8 gene mutation leading to the onset of KATP-congenital hyperinsulinism in a Chinese boy and his pedigree analysis / 中华内分泌代谢杂志

ABCC8,KCNJ11,and GLUD1 gene mutations were investigated in a male patient with congenital hyperinsulinism and his parents were also investigated.A 1484 G＞A mutation was found in the 10th exon of ABCC8 gene in the patient,which leads to amino acid substitution at the 495 residue of the sulphonylurea receptor SUR1 protein.The patient's father also carried the same heterozygous inactive mutation,while the genotype of the mother was normal,indicating that the gene mutation of the patient was paternally inherited.According to that mutation,it is deduced that the patient may suffer from the focal type of congenital hyperinsulinism.