Objective:A nationwide multi-center and large sample survey was conducted to compare the validity of the Mini International Neuropsychiatric Interview (Hypo-) Manic Episode with Mixed Features-DSM-5 Module (MINI-M) questionnaire and the Clinically Useful Depression Outcome Scale Supplemented with Questions for the DSM-5 Mixed Features Specifier (CUDOS-M) depression subscale in identifying mixed features in patients experiencing (hypo-) manic episodes.Methods:Using a convenience sampling method, 366 patients with bipolar disorder experiencing acute (hypo-) manic episodes who met the inclusion and exclusion criteria were recruited. The diagnosis of "with mixed features" was based on the DSM-5 criteria for mixed features. The predictive validity of the MINI-M questionnaire and the CUDOS-M depression subscale to screen mixed features was analyzed using the receiver operating characteristic (ROC) curve. Additionally, the difference in area under the ROC curve (AUC) between the two instruments was compared.Results:The AUC for the MINI-M questionnaire and the CUDOS-M depression subscale in screening mixed features were 0.79 (95 %CI=0.75-0.84) and 0.81 (95 %CI=0.77-0.86), respectively. There was no statistically significant difference in AUC between the two measurements ( Z=-1.19, P>0.05). Among patients with acute (hypo-) manic episodes, 45.9% (168/366) presented with mixed features according to the DSM-5 criteria, while the corresponding figures were 43.7% (160/366) using the MINI-M questionnaire (total score≥3) and 42.1% (154/366) using the CUDOS-M depression subscale (total score≥20). Screening results were comparable among the three measures. Conclusion:Mixed features are common among patients experiencing acute (hypo-) manic episodes. The MINI-M questionnaire and the CUDOS-M depression subscale demonstrate equivalent validity in identifying mixed features.

Objective:A nationwide multi-center and large sample survey was conducted to compare the validity of the Mini International Neuropsychiatric Interview (Hypo-) Manic Episode with Mixed Features-DSM-5 Module (MINI-M) questionnaire and the Clinically Useful Depression Outcome Scale Supplemented with Questions for the DSM-5 Mixed Features Specifier (CUDOS-M) depression subscale in identifying mixed features in patients experiencing (hypo-) manic episodes.Methods:Using a convenience sampling method, 366 patients with bipolar disorder experiencing acute (hypo-) manic episodes who met the inclusion and exclusion criteria were recruited. The diagnosis of "with mixed features" was based on the DSM-5 criteria for mixed features. The predictive validity of the MINI-M questionnaire and the CUDOS-M depression subscale to screen mixed features was analyzed using the receiver operating characteristic (ROC) curve. Additionally, the difference in area under the ROC curve (AUC) between the two instruments was compared.Results:The AUC for the MINI-M questionnaire and the CUDOS-M depression subscale in screening mixed features were 0.79 (95 %CI=0.75-0.84) and 0.81 (95 %CI=0.77-0.86), respectively. There was no statistically significant difference in AUC between the two measurements ( Z=-1.19, P>0.05). Among patients with acute (hypo-) manic episodes, 45.9% (168/366) presented with mixed features according to the DSM-5 criteria, while the corresponding figures were 43.7% (160/366) using the MINI-M questionnaire (total score≥3) and 42.1% (154/366) using the CUDOS-M depression subscale (total score≥20). Screening results were comparable among the three measures. Conclusion:Mixed features are common among patients experiencing acute (hypo-) manic episodes. The MINI-M questionnaire and the CUDOS-M depression subscale demonstrate equivalent validity in identifying mixed features.

SARS-CoV-2 may have potential effects on the male reproductive system. Evidence has shown that SARS-CoV-2 is not likely to transmit through sexual intercouse. However, male infected with SARS-CoV-2 may experience sexual dysfunction, semen quality decline, testicular damage and abnormal sex hormones. The extent and duration of these damages are still unclear, and further multidimensional research is necessary.

Objective:This study investigates the difference in the detection rate and symptomatology between ICD-10 and DSM-5 diagnostic criteria for bipolar disorder with mixed states.Methods:Based on the Phase Ⅰ (2012) and Phase Ⅱ (2021) databases of National Bipolar Mania Pathway Survey (BIPAS), patients with bipolar disorder were included. General demographic data, clinical characteristics, symptomatic phenotypes, and mixed characteristics were retrieved. The detection rates and symptomatic performances of patients with or without mixed states in Phase Ⅰ and Ⅱ were compared using the chi-square test.Results:For patients with mixed states, the detection rate during Phase Ⅱ (2021) using DSM-5 (18.79%, 199/1 059) criteria was significantly higher than that during Phase Ⅰ (2012) using ICD-10 (6.78%, 199/2 934; χ 2=125.05, P<0.001). Whether using ICD-10 or DSM-5 criteria, patients with mixed states had a significantly higher frequency of multiple symptomatic manifestations. Conclusion:The DSM-5 diagnostic criteria generate a high detection rate for bipolar disorder with mixed states. The clinical phenotypes of bipolar disorder with mixed states vary significantly using different diagnostic tools.

Objective:This study investigates the difference in the detection rate and symptomatology between ICD-10 and DSM-5 diagnostic criteria for bipolar disorder with mixed states.Methods:Based on the Phase Ⅰ (2012) and Phase Ⅱ (2021) databases of National Bipolar Mania Pathway Survey (BIPAS), patients with bipolar disorder were included. General demographic data, clinical characteristics, symptomatic phenotypes, and mixed characteristics were retrieved. The detection rates and symptomatic performances of patients with or without mixed states in Phase Ⅰ and Ⅱ were compared using the chi-square test.Results:For patients with mixed states, the detection rate during Phase Ⅱ (2021) using DSM-5 (18.79%, 199/1 059) criteria was significantly higher than that during Phase Ⅰ (2012) using ICD-10 (6.78%, 199/2 934; χ 2=125.05, P<0.001). Whether using ICD-10 or DSM-5 criteria, patients with mixed states had a significantly higher frequency of multiple symptomatic manifestations. Conclusion:The DSM-5 diagnostic criteria generate a high detection rate for bipolar disorder with mixed states. The clinical phenotypes of bipolar disorder with mixed states vary significantly using different diagnostic tools.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the etiology, clinical diagnosis and treatment strategy of Lesch Nyhan syndrome.Methods:We retrospectively analyzed 2 patients with severe dyskinesia, mental retardation and complicated renal calculi who were admitted to the first people's Hospital of Zhengzhou in August 2019. Case 1, male, 9 years old, had multiple urinary calculi for 1 year. The patient came to the local hospital because double multiple kidney stones and bladder stonesa year ago. The patient had been treated with transurethral holmium laser lithotripsy for bladder stones. The results of infrared spectrum showed that the bladder stone was anhydrous uric acid stone. A week ago, color Doppler ultrasound showed multiple kidney stones and bladder stones. The patient was underdeveloped, mentally retarded and had a full-term cesarean section. There was no history of hypoxia, asphyxia and rescue of the patient. He had the following clinical manifestations: In the waking state, he was no language response to any stimulation. The nasolabial fold on the right was shallow and the corner of the mouth was oblique to the left. He lost the large movements such as lifting head, sitting alone, standing. The trunk showed torsion spasticity, limb muscle strength 2-3, limbs showing spastic hypertonia, limb joints stiff, hands showing fist-like, no involuntary movement and muscle fasciculation. The biceps reflex and knee tendon reflex were not elicited, and the pathological reflex was positive. Serum uric acid was 517 μmol/L. The Case 2 came from the same family, male, 6 years old, had the similar symptoms to his elder brother case 1. The family members complained on behalf of the child about intermittent fever for more than 2 years. The imaging examination of case 2 revealed kidney stones. Serum uric acid was 373 μmol/L. Whole Exome Sequencing and Sanger Sequencing were used to find the genetic causes of the two siblings. The NCBI-Homologene database was used to find the homologous sequence of the human HPRT1 gene, and the human HPRT1 gene sequence was compared with other species to analyze the protein conservation. The online website PredictProtein (http: //www.predactprotein) was used to predict the two-dimensional structure of the HPRT1 gene. The reported cases were summarized and same with the treatment plan.Results:A De novo mutation [c.571T>G(p.Tyr191Asp)] was found in the HPRT1 gene of the child, which was inherited from the mother. Lesch Nyhan syndrome can be diagnosed by the results of gene examination combined with clinical manifestations. The amino acid Tyr at the 191 position and the amino acids before and after it were highly conserved. Amino acid 191 was involved in the β-strand of the protein. We treated the patients with the lowest dose of allopurinol and children's conventional dose of potassium sodium bicitrate granules, and low purine diet. After 3 months of treatment, the serum uric acid was decreased, and the urinary calculi did not increase significantly.Conclusions:Combining with the clinical manifestations of children, HPRT1 gene might be the cause of pediatric disease and the two siblings could be diagnosed as Lesch-Nyhan syndrome. For such patients, the lowest dose of allopurinol and children's conventional dose of potassium sodium hydrogen citrate granule combined with diet could be more effective.

OBJECTIVETo use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.

METHODSChromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.

RESULTSThe karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.

CONCLUSIONaCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; genetics ; Comparative Genomic Hybridization ; Cri-du-Chat Syndrome ; diagnosis ; embryology ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Karyotyping ; Male ; Prenatal Diagnosis ; Trisomy ; diagnosis ; genetics

OBJECTIVETo explore the possible roles of polymorphisms of SPO11 and glutathionine S-transferase (GST) genes in idiopathic male infertility in a ethnic Han Chinese population from Henan.

METHODSMultiplex PCR and DNA sequencing were performed to determine the SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms in 216 idiopathic male infertility cases and 198 normal samples.

RESULTSThe frequencies of the SPO11 CC and CT genotypes were 87.5% (189/216) and 12.5% (27/216) in the patients, and 97.5% (193/198) and 2.5% (5/198) in the controls, respectively. The frequencies of SPO11 CC and CT genotypes, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the frequencies of combined genotypes GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) were significantly different between the two groups (P<0.05).

CONCLUSIONThe rs28368082 polymorphism of the SPO11 gene, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) may be associated with idiopathic male infertility in ethnic Han Chinese.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Endodeoxyribonucleases ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotype ; Glutathione S-Transferase pi ; genetics ; Glutathione Transferase ; genetics ; Humans ; Infertility, Male ; enzymology ; ethnology ; genetics ; Linkage Disequilibrium ; Male ; Mutation ; Odds Ratio ; Polymorphism, Genetic ; Sequence Analysis, DNA