OBJECTIVE: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously. METHODS: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed. This study has been approved by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-062-01). RESULTS: Child 1 was a 2-year-and-4-month-old boy whose clinical manifestations included facial dysmorphism, developmental delay, short stature, microcephaly, cleft palate, cryptorchidism, hypospadias, recurrent infections and immunological abnormalities. Whole exome sequencing revealed that he had harbored a heterozygous c.6595delT (p.Y2199Ifs*65) variant of the KMT2D gene and a heterozygous c.1892G>A (p.R631Q) variant of the PIK3R1 gene. This has led to a dual genetic diagnosis of Kabuki syndrome and PI3Kδ-related immunodeficiency type 36. Child 2 was a 15-year-old girl whose clinical manifestations included epilepsy, Albright's hereditary osteodystrophy, long body trunk, short limbs, hypocalcemia, hyperphosphatemia and hyperparathyroidism. The child also had a family history of short stature. Whole exome sequencing revealed that she had harbored a heterozygous c.2T>C (p.Met1?) variant of the GNAS gene and deletion of exons 2 to 6 of the SHOX gene. The two variants have led to dual diagnose of pseudohypoparathyroidism and X-linked idiopathic short stature. CONCLUSION When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of co-morbid genetic diseases.
Child, Preschool ; Female ; Humans ; Male ; Class Ia Phosphatidylinositol 3-Kinase/genetics* ; Comorbidity ; Exome Sequencing ; Mutation ; Rare Diseases/genetics* ; Retrospective Studies ; Adolescent

Objective:To explore the differences in sociodemographic and clinical characteristics between pa-tients with unipolar depression bipolar depression and to establish a nomogram for identifying bipolar depression.Methods:Using data from the China Mental Disorders Cohort Study,the sociodemographic and clinical characteristics of 2 643 patients with unipolar depression and 250 patients with bipolar depression diagnosed accord-ing to the criteria of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition(DSM-5)were includ-ed to compare their sociodemographic and clinical characteristics.These characteristics included general demograph-ic information,disease-related information,clinical examination results,and the severity of the disease assessed with the Global Assessment of Functioning(GAF)and Hamilton Depression Rating Scale.Logistic regression analysis was employed to identify factors influencing bipolar depression,and a nomogram was constructed for its identifica-tion.Results:The risk factors for bipolar depression included being male(OR=1.48),being employed(OR=1.38),having non-melancholic features during episodes(OR=2.33),a Body Mass Index ranging from normal to obese(OR=2.48,2.49,4.65),psychotic features(OR=2.14),mixed episode(OR=9.36),comorbid physical diseases(OR=2.47),four or more depressive episodes(OR=1.67),earlier age of onset(OR=0.95),longer ill-ness duration(OR=1.03),and higher GAF scores(OR=1.02).The nomogram model achieved an AUC of 0.81(95％CI:0.78-0.84).The Hosmer-Lemeshow test result was x2=6.96(P＞0.05),indicating good model fit.The calibration curve showed good performance.The decision curve analysis revealed that the nomogram pro-vides significant clinical benefit when the risk of bipolar depression was within the range of 0 to 0.9.Conclusion:The nomogram established based on the identified sociodemographic and clinical factors can accurately assess the risk of bipolar depression,providing a useful tool for early identification and intervention.

OBJECTIVE To explore the optimal parameters of simmered Rhei Radix et Rhizoma and the correlation between the chroma values and the intrinsic composition of simmered Rhei Radix et Rhizoma decoction pieces powder.METHODS The single-factor-response surface method was used to investigate the simmering temperature,simmering time,paper dosage and plant ash dos-age,the response surface experiment was carried out on the basis of the single factor experiment,the appearance traits,total anthraqui-nones,free anthraquinones,leachables,sennoside A and B contents were taken as indicators,the analytic hierarchy process(AHP)was used to give weights to each index,and the process was optimized.The chroma values of raw and simmered products were deter-mined by electronic eye,the correlation and regression analysis were carried out by SPSS22.0 software,and the chroma-component re-gression equation was constructed.RESULTS The optimal process of simmering Rhei Radix et Rhizoma was 140 ℃,5 times of plant ash,2 layers of wet paper wrapped and being simmered for 2.5 h.CONCLUSION The simmering process of Rhei Radix et Rhizoma optimized by AHP combined with response surface method is reasonable and feasible,the color of decoction pieces has a significant correlation with the component content,and the regression equation constructed is reliable,which can predict the intrinsic component content of decoction pieces through chroma values.

Objective:To identify competency evaluation indicators for psychological hotline professionals,provi-ding scientific reference for their training and assessment.Methods:Through literature review,initial competency evalua-tion indicators were selected,followed by Delphi consultation with sixteen experts across China.The analytic hierarchy process(AHP)was used to assign weights to each indicators.Results:The response rate of expert consultation question-naire was 100％,and the expert authority coefficients for the two rounds of consultation were 0.92 and 0.90 respective-ly.After two rounds of expert consultation,a competency evaluation index system for professional counselors of psycho-logical aids hotline was constructed,including four first-level indexes,nine second-level indexes,and 34 third-level inde-xes.The weight of each index was determined using the AHP.The Kendall coefficient of concordance of all level's inde-xes in the two rounds of consultation were 0.16-0.18 and 0.16-0.25,respectively.Conclusion:The expert consensus developed in this study serves as an reference for evaluating the competency of psychological hotline professionals,sup-porting their training and assessment.

Objective:To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.Methods:Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed. This study has been approved by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-062-01).Results:Child 1 was a 2-year-and-4-month-old boy whose clinical manifestations included facial dysmorphism, developmental delay, short stature, microcephaly, cleft palate, cryptorchidism, hypospadias, recurrent infections and immunological abnormalities. Whole exome sequencing revealed that he had harbored a heterozygous c.6595delT (p.Y2199Ifs*65) variant of the KMT2D gene and a heterozygous c. 1892G>A (p.R631Q) variant of the PIK3R1 gene. This has led to a dual genetic diagnosis of Kabuki syndrome and PI3Kδ-related immunodeficiency type 36. Child 2 was a 15-year-old girl whose clinical manifestations included epilepsy, Albright′s hereditary osteodystrophy, long body trunk, short limbs, hypocalcemia, hyperphosphatemia and hyperparathyroidism. The child also had a family history of short stature. Whole exome sequencing revealed that she had harbored a heterozygous c. 2T>C (p.Met1? ) variant of the GNAS gene and deletion of exons 2 to 6 of the SHOX gene. The two variants have led to dual diagnose of pseudohypoparathyroidism and X-linked idiopathic short stature. Conclusion:When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of comorbid genetic diseases.

Objective:To explore the differences in sociodemographic and clinical characteristics between pa-tients with unipolar depression bipolar depression and to establish a nomogram for identifying bipolar depression.Methods:Using data from the China Mental Disorders Cohort Study,the sociodemographic and clinical characteristics of 2 643 patients with unipolar depression and 250 patients with bipolar depression diagnosed accord-ing to the criteria of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition(DSM-5)were includ-ed to compare their sociodemographic and clinical characteristics.These characteristics included general demograph-ic information,disease-related information,clinical examination results,and the severity of the disease assessed with the Global Assessment of Functioning(GAF)and Hamilton Depression Rating Scale.Logistic regression analysis was employed to identify factors influencing bipolar depression,and a nomogram was constructed for its identifica-tion.Results:The risk factors for bipolar depression included being male(OR=1.48),being employed(OR=1.38),having non-melancholic features during episodes(OR=2.33),a Body Mass Index ranging from normal to obese(OR=2.48,2.49,4.65),psychotic features(OR=2.14),mixed episode(OR=9.36),comorbid physical diseases(OR=2.47),four or more depressive episodes(OR=1.67),earlier age of onset(OR=0.95),longer ill-ness duration(OR=1.03),and higher GAF scores(OR=1.02).The nomogram model achieved an AUC of 0.81(95％CI:0.78-0.84).The Hosmer-Lemeshow test result was x2=6.96(P＞0.05),indicating good model fit.The calibration curve showed good performance.The decision curve analysis revealed that the nomogram pro-vides significant clinical benefit when the risk of bipolar depression was within the range of 0 to 0.9.Conclusion:The nomogram established based on the identified sociodemographic and clinical factors can accurately assess the risk of bipolar depression,providing a useful tool for early identification and intervention.

OBJECTIVE To explore the optimal parameters of simmered Rhei Radix et Rhizoma and the correlation between the chroma values and the intrinsic composition of simmered Rhei Radix et Rhizoma decoction pieces powder.METHODS The single-factor-response surface method was used to investigate the simmering temperature,simmering time,paper dosage and plant ash dos-age,the response surface experiment was carried out on the basis of the single factor experiment,the appearance traits,total anthraqui-nones,free anthraquinones,leachables,sennoside A and B contents were taken as indicators,the analytic hierarchy process(AHP)was used to give weights to each index,and the process was optimized.The chroma values of raw and simmered products were deter-mined by electronic eye,the correlation and regression analysis were carried out by SPSS22.0 software,and the chroma-component re-gression equation was constructed.RESULTS The optimal process of simmering Rhei Radix et Rhizoma was 140 ℃,5 times of plant ash,2 layers of wet paper wrapped and being simmered for 2.5 h.CONCLUSION The simmering process of Rhei Radix et Rhizoma optimized by AHP combined with response surface method is reasonable and feasible,the color of decoction pieces has a significant correlation with the component content,and the regression equation constructed is reliable,which can predict the intrinsic component content of decoction pieces through chroma values.

Objective:To identify competency evaluation indicators for psychological hotline professionals,provi-ding scientific reference for their training and assessment.Methods:Through literature review,initial competency evalua-tion indicators were selected,followed by Delphi consultation with sixteen experts across China.The analytic hierarchy process(AHP)was used to assign weights to each indicators.Results:The response rate of expert consultation question-naire was 100％,and the expert authority coefficients for the two rounds of consultation were 0.92 and 0.90 respective-ly.After two rounds of expert consultation,a competency evaluation index system for professional counselors of psycho-logical aids hotline was constructed,including four first-level indexes,nine second-level indexes,and 34 third-level inde-xes.The weight of each index was determined using the AHP.The Kendall coefficient of concordance of all level's inde-xes in the two rounds of consultation were 0.16-0.18 and 0.16-0.25,respectively.Conclusion:The expert consensus developed in this study serves as an reference for evaluating the competency of psychological hotline professionals,sup-porting their training and assessment.

Objective:To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.Methods:Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed. This study has been approved by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-062-01).Results:Child 1 was a 2-year-and-4-month-old boy whose clinical manifestations included facial dysmorphism, developmental delay, short stature, microcephaly, cleft palate, cryptorchidism, hypospadias, recurrent infections and immunological abnormalities. Whole exome sequencing revealed that he had harbored a heterozygous c.6595delT (p.Y2199Ifs*65) variant of the KMT2D gene and a heterozygous c. 1892G>A (p.R631Q) variant of the PIK3R1 gene. This has led to a dual genetic diagnosis of Kabuki syndrome and PI3Kδ-related immunodeficiency type 36. Child 2 was a 15-year-old girl whose clinical manifestations included epilepsy, Albright′s hereditary osteodystrophy, long body trunk, short limbs, hypocalcemia, hyperphosphatemia and hyperparathyroidism. The child also had a family history of short stature. Whole exome sequencing revealed that she had harbored a heterozygous c. 2T>C (p.Met1? ) variant of the GNAS gene and deletion of exons 2 to 6 of the SHOX gene. The two variants have led to dual diagnose of pseudohypoparathyroidism and X-linked idiopathic short stature. Conclusion:When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of comorbid genetic diseases.

Objective:To describe and analyze suicide risk of patients with schizophrenia,major depressive disorder,and bipolar disorder.Methods:A total of 2 016 patients with schizophrenia,903 patients with major de-pressive disorder,and 381 patients with bipolar disorder from inpatients,clinics,or communities who met the diag-nostic criteria of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition were recruited.All patients were interviewed by psychiatrists using the Mini International Neuropsychiatric Interview to diagnose mental disor-ders and assess suicide risk,as well as Clinical-Rated Dimensions of Psychosis Symptom Severity(CRDPSS)to as-sess symptoms.Differences and risk factors of suicide risk among three types of mental disorders were explored u-sing multivariate logistic regression analysis.Results:In the past one month,37 patients with schizophrenia(1.8％),516 patients with major depressive disorder(57.1％),and 102 patients with bipolar disorder(26.8％)had suicide risk.Compared with patients with schizophrenia,suicide risk in patients with major depressive disorder(OR=36.50)and bipolar disorder(OR=20.10)increased.Female(OR=1.87),smoking(OR=1.76),family history of suicide(OR=5.09),higher score of CRDPSS hallucination(OR=1.80),and higher score of CRDPSS depression(OR=1.54)were risk factors of suicide risk of patients.Conclusions:Suicide risk of patients with ma-jor depressive disorder and bipolar disorder is higher than that of patients with schizophrenia.In clinical practice,it is important to regularly assess suicide risk of patients.Patients who experience symptoms of hallucination and de-pression should be paid more attention to.