Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).@*METHODS@#DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.@*CONCLUSION@#The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.

Application progress of machine learning in orthopedic diagnosis and treatment / 国际生物医学工程杂志

In recent years, artificial intelligence-related technologies have been deeply combined with many medical fields, and the intersection of medicine and engineering has become a hot topic. There are problems with heavy data and difficulty making decisions in orthopedic disease diagnosis and treatment. Machine learning is an important method of artificial intelligence. Since it can automatically analyze and predict medical big data, it is widely used in the field of orthopedics. It also assists physicians in completing disease diagnosis and treatment efficiently. In this review paper, the application and progress of machine learning in preoperative, intraoperative, and postoperative diagnosis and treatment in orthopedics are reviewed, providing new ways for exploring more rational diagnosis and treatment strategies.

Impact of stressors and stress responses on the daily life of college students with migraine / 四川精神卫生

BackgroundStress is closely related to migraine attacks， however， previous studies on stressors， stress responses and their impact on the daily life of college students with migraine remain unclear. ObjectiveTo explore the impact of stressors and stress responses on the daily life of college students with migraine， in order to provide references for improving daily life of this population. MethodsFrom August 2018 to August 2019， 458 students from North Sichuan Medical College who met the International Classification of Headache Diseases third edition （ICHD-3）， were selected using random sampling method. General data and headache characteristics were collected. The 6-item Headache Impact Test Questionnaire （HIT-6） was used to assess the impact of migraine on daily life. Student-Life Stress Inventory （SLSI） was used to assess the stressors and stress responses. Hamilton Anxiety Scale （HAMA） and Hamilton Depression Scale-24 item （HAMD-24） were used to assess anxiety and depressive symptoms. Pearson correlation analysis were used to examine the relationship between HIT-6 score and scores on various scales. Multiple linear regression was used to analyze the influencing factors on daily life in college students with migraine. ResultsIn the SLSI， stressors in the dimensions of frustration （r=0.138， P<0.01）， conflict （r=0.168， P<0.01）， pressure （r=0.157， P<0.01）， change （r=0.148， P<0.01）， self-imposed （r=0.158， P<0.01） ， as well as physiological response （r=0.256， P<0.01）， emotional response （r=0.241， P<0.01）， behavioral response （r=0.164， P<0.01）， HAMA total score （r=0.192， P<0.01）， dHAMD-24 total score （r=0.250， P<0.01）， and SLSI total score （r=0.250， P<0.01）， were positively correlated with HIT-6 score. Cognitive response （r=-0.104， P<0.05） was negatively correlated with HIT-6 score. Stepwise multiple linear regression revealed that physiological response （β=0.140， P<0.05）， anxiety （β=0.159， P<0.05）， and cognitive response （β=-0.091， P<0.05） could predict the impact on daily life of college students with migraine. ConclusionPhysiological response， cognitive response and anxiety may be the independent influencing factors on the daily life of college students with migraine. ［Funded by Nanchong City University Science and Technology Strategic Cooperation Project （number， NSMC20170420）］

Anxiety/depression symptoms and sleep quality in patients with menstrual migraine / 四川精神卫生

ObjectiveTo assess the anxiety and depression symptoms and sleep quality in patients with menstrual migraine， so as to provide references for the prevention and treatment of menstrual migraine and its comorbidity. MethodsAccording to the diagnostic criteria of the International Classification of Headache Disorder， third edition （ICHD-3）， 501 female migraine patients， including 112 patients with menstrual migraine and 389 patients with non-menstrual migraine， who attended the outpatient clinic of the Affiliated Hospital of North Sichuan Medical College from February 2019 to February 2020， were selected for the study. The general and clinical data of the patients were collected， meantime， patients were assessed using Hamilton Anxiety Scale （HAMA）， Hamilton Depression Scale-24 item （HAMD-24）， 6-item Headache Impact Test （HIT-6） and Pittsburgh Sleep Quality Index （PSQI）. ResultsThe detection rates of pure anxiety， pure depression， comorbid anxiety-depression and sleep disorders in patients with menstrual migraine were higher than those in patients with non-menstrual migraine （χ2=4.198， 4.355， 5.236， 8.624， P<0.05 or 0.01）. Patients with menstrual migraine had higher scores of HAMA、HAMD-17、PSQI and HIT-6 than those of non-menstrual migraine patients （Z=-3.550、-2.723、-2.482、-4.717，P<0.05 or 0.01）. Correlation analysis showed that PSQI score of menstrual migraine patients was positively correlated with HAMA score （r=0.338， P<0.01）， HAMD-24 score （r=0.372， P<0.01） and HIT-6 score （r=0.192， P<0.05）. ConclusionCompared with non-menstrual migraine patients， patients with menstrual migraine experience more severe anxiety and depression symptoms and sleep problems and suffer greater negative life impacts. In addition， the influence of anxiety and depression symptoms and headache on daily life is associated with sleep quality.

Prevalence rate and influencing factors of sleep insufficiency in medical students with migraine / 四川精神卫生

ObjectiveTo investigate the prevalence rate and influencing factors of sleep insufficiency in medical students with migraine， and to provide a reference for alleviating the sleep problems in medical students. MethodsFrom July 2018 to July 2019， a random cluster sampling method was implemented to choose 546 medical students who met the diagnostic criteria of the International Classification of Headache Disorders， third edition （ICHD-3） for migraine in North Sichuan Medical College. Students were divided into sleep sufficiency group （n=367） and sleep insufficiency group （n=179） based on whether the nightly sleep duration was more than 6 hours. General demographic and clinical data of medical students were collected. Pittsburgh Sleep Quality Index （PSQI） was used to assess the sleep quality. Hamilton Anxiety Scale （HAMA） and Hamilton Depression Scale-24 item （HAMD-24） were used to evaluate the anxiety and depression states. Visual Analogue Scale （VAS） was adopted to assess the pain degree， and the 6-item Headache Impact Test Questionnaire （HIT-6） was applied to evaluate the impact of headache on daily life. Then Logistic regression analysis was conducted to screen the influencing factors of sleep insufficiency in medical students with migraine. ResultsAmong 546 medical students with migraine， 179（32.78%） had sleep insufficiency. There were significant differences in age （t=2.107）， frequency of headache attacks （Z=-2.972）， anxiety status （χ²=14.053）， depression status （χ²=10.773）， total score of PSQI （t=-13.247） and sleep quality （χ²=94.754） between sleep sufficiency group and sleep insufficiency group （P<0.05 or 0.01）. Correlation analysis showed that sleep duration in migraine patients was negatively correlated with age （r=-0.100， P<0.01）， and positively correlated with frequency of headache attacks， anxiety status， and depression status （r=0.135， 0.169， 0.139， P<0.01）. Multivariate Logistic regression analysis denoted that age （OR=0.860， 95% CI： 0.743~0.996， P=0.045）， frequency of headache attacks （OR=1.051， 95% CI： 1.006~1.098， P=0.026） and depression status （OR=1.712， 95% CI： 1.024~2.861， P=0.040） were influencing factors of sleep insufficiency in medical students with migraine. ConclusionMedical students with migraine suffer a high prevalence rate of sleep insufficiency， moreover， the frequency of headache attack and depression status are risk factors， and age is a protective factor for sleep insufficiency in medical students with migraine.

Research progress of mesenchymal stem cells and exosomes derived from them in the treatment of osteoporosis / 中华骨科杂志

Osteoporosis seriously threatens the living quality of people, especially the elderly, and causes a huge economic burden to society. In the past, bisphosphonates, denosumab and other first-line drugs were used in the treatment of osteoporosis. However, these drugs can only inhibit bone resorption, but can not promote bone formation. Studies have shown that mesenchymal stem cells (MSCs) can be used to treat osteoporosis, however, it has some defects and deficiencies, such as genetic instability, limited cell survival and increased risk of cancer. However, mesenchymal stem cell-derived exosomes (MSCs-Exos) can regulate the differentiation and proliferation of osteoblasts by mediating wingless and int-1 (Wnt)/β-catenin and mitogen-activated protein kinase (MAPK) signaling pathways, promote bone regeneration, and thus has an impact on osteoporosis. In this paper, preclinical studies on MSCs and MSCs-Exos in the treatment of osteoporosis in recent years were reviewed, in order to provide a new idea for the treatment of osteoporosis.

Proton magnetic resonance spectroscopy study on prefrontal lobe and hippocampus in depression / 中华行为医学与脑科学杂志

ObjectivesTo explore the characteristic of different subtypes of depression on prefrontal lobe and hippocampus by proton magnetic resonance spectroscopy (1H-MRS),and its relationship.Methods 46 patients of depression,which were met with the third edition of the Chinese Classification of Mental Disorders (CC-MD-Ⅲ ) since December 2010 to March 2012 from Mental Diseases Prevention and Treatment Institute,were examined at prefrontal lobe and hippocampus by multi-voxel 1 H-MRS.They were divided into male ( n =25) and female ( n =21 ),early-onset subtype ( n =26) and late-onset subtype ( n =20 ),short-duration of illness ( n =23 )and long-duration of illness ( n =23 ) by different criteria.The N-acetylaspartate ( NAA),Choline-congtaining compounds (Cho),and Creatine compounds (Cr) were measured and the ratios of NAA/Cr,Cho/Cr were determined.ResultsOn left prefrontal lobe,the NAA/Cr ratios in patients of male ( 1.83 ± 0.19),late-onset subtype (1.86 ±0.16),and short-duration of illness ( 1.83 ±0.17) showed higher than those in female ( 1.70 ±0.12,t=2.711,P ＜ 0.01 ),early-onset subtype ( 1.70 ± 0.19,t =3.028,P ＜ 0.01 ),and long-duration of illness ( 1.71±0.20,t =2.192,P＜0.05).Both on left prefrontal and on left thalamus,the ratios of NAA/Cr were positively correlated with the age of onset ( r=0.493 and 0.478,P＜0.01 ),and were negatively correlated with the duration of illness ( r =- 0.482 and - 0.470,P ＜ 0.01 ).ConclusionsDifferent subtypes of depression maybe have different characteristics of 1H-MRS due to the age of onset and the duration of illness.

Proton magnetic resonance spectroscopy study on prefrontal lobe and thalamus in schizophrenics / 中华行为医学与脑科学杂志

ObjectiveTo explore the metabolite status on prefrontal lobe and thalamus by proton magnetic resonance spectroscopy (1H-MRS) and affecting factors in patients of schizophrenia.Methods 159 schizophrenics met with CCMD-3 and 45 normal controls were examined at prefrontal lobe and thalamus by multi-voxel 1H-MRS.The N-acetylaspartate ( NAA),Choline-congtaining compounds ( Cho),and Creatine compounds (Cr)were measured and the ratios of NAA/Cr,Cho/Cr were determined. Positive and Negative Syndrome Scale (PANSS),Social Disability Screening Schedule (SDSS),and Wisconsin Card Sorting Test (WCST) were also assessed.ResultsOn left prefrontal lobe of patients,the NAA/Cr ratio demonstrated lower than that in normal controls (1.42 ±0.34 vs.1.64 ±0.39,t =3.70,P＜0.01 ).The same phenomenon were appeared on left thalamus (1.46±0.35 vs.1.66±0.38,t=3.32,P＜0.01) and on right thalamus (1.49±0.34 vs.1.62±0.37,t=2.04,P ＜ 0.05 ).Contributing to the NAA/Cr ratio,main influencing factors on left prefrontal lobe were age of onset,duration of illness,score of negative symptoms,antipsychotic treatment,total score of PANSS,Categories completed of WCST,total score of SDSS,year of education.Main influencing factors on left thalamus were age of onset,duration of illness,antipsychotic treatment.Main influencing factors on right thalamus were duration of illness,age of onset,score of negative symptoms,antipsychotic treatment,and family history.ConclusionsAbnormalities in neuronal function and/or integrity presented on prefrontal lobe and thalamus in schizophrenics are related to many respects,especially age of onset,duration of illness and antipsychotic treatment.

Proton magnetic resonance spectroscopy study on prefrontal lobe and thalamus in schizophrenics with negative and positive symptoms / 中华行为医学与脑科学杂志

Objective To compare the differences between the schizophrenics with negative and positive symptoms on prefrontal lobe and thalamus by proton magnetic resonance spectroscopy ( 1 H-MRS). Methods 58 negative subtype and 51 positive subtype schizophrenics were examined at prefrontal lobe and thalamus by multivoxel 1H-MRS before antipsychotic treatment The N-acetylaspartate (NAA), choline-containing compounds ( Cho), and creatine compounds (Cr) were measured and the ratios of NAA/Cr, Cho/Cr were determined. Results On right thalamus,the NAA/Cr ratio in negative subtype patients ( 1.40 ± 0.29 ) demonstrated lower than that in positive subtype ( 1.62 ± 0.33 ), the same phenomenon were appeared on male, female, non-first-episode, with-medicine and without-medicine patients (P ＜ 0.05 or 0.01 ). The Cho/Cr ratio on right thalamus in negative subtype of female,non-first-episode,without-medicine schizophrenics were lower than those in positive subtype (P ＜ 0.05 ).On left prefrontal lobe,left thalamus and right thalamus, the NAA/Cr ratios both in negative subtype and positive subtype schizophrenics were significantly negatively related with age of onset(P＜0. 05 or 0.01 ). In negative subtype schizophrenics,the Cho/Cr ratio on right thalamus was positively related with age of onset ( r = 0. 25, P ＜0.05 ). In negative subtype schizophrenics of non-first-episode, without-medicine, the correlation was negative between the NAA/Cr ratio and the course of disease( r= -0.48, -0.46, P＜0.05 ) ,and was positive between Cho/Cr ratio and the course of disease on right thalamus( r= 0.58,0.56, P＜ 0.01 ). Conlusion Compared with positive subtype schizophrenics,negative subtype schizophrenics have greater impairments on 1 H-MRS on right thalamus. The course of disease has greater effects on 1 H-MRS in negative subtype schizophrenics.

Proton magnetic resonance spectroscopy study on prefrontal lobe and thalamus in schizophrenia with or without mental disorder family history / 中华行为医学与脑科学杂志

Objective To compare the metabolic measures on prefrontal lobe and thalamus among schizophrenics with or without mental disorder family history by proton magnetic resonance spectroscopy (1 H-MRS),and to explore the relationship among metabolic measures,clinical symptom,and executive functioning.Methods Thirty-one schizophrenics with schizophrenia family history,21 schizophrenics with the other mental disorder family history,and 78 schizophrenics without mental disorder family history were examined at prefrontal lobe and thalamus by multi-voxel 1H-MRS.The N-acetylaspartate (NAA),Choline-congtaining compounds (Cho),and Creatine compounds (Cr) were measured and the ratios of NAA/Cr and Cho/Cr were determined.Meanwhile,Positive and Negative Syndrome Scale (PANSS) and Wisconsin Card Sorting Test (WCST) were also assessed in all schizophrenics.Results Both in schizophrenics with schizophrenia family history and with the other mental disorder family history,the NAA/Cr ratios showed lower than those in schizophrenics without mental disorder family history both on left prefrontal lobe and on fight thalamus ( P ＜ 0.05 ).Compared with schizophrenics without mental disorder family history,the score of negative symptoms and the perseverative errors demonstrated higher ( P＜ 0.05 or 0.01 ),the categories completed showed lower both in schizophrenics with schizophrenia family history and with the other mental disorder family history ( P＜0.05 ).The NAA/Cr ratios on left prefrontal lobe in all schizophrenics were significantly negatively related with the total score of PANSS and the responses errors (P ＜ 0.05 or P＜ 0.01 ),and positively related with the categories completed and the conceptual level responses ( P＜ 0.05 or P＜ 0.01 ).On left prefrontal lobe both in schizophrenics with schizophrenia family history and with the other mental disorder family history,the ratios of NAA/Cr were negatively related with the score of negative symptoms and the perseverative errors ( P ＜ 0.05 or 0.01 ).Conclusion The damages of neurons on prefrontal lobe and thalamus in schizophrenics with mental disorder family history may be more severe than those in schizophrenics without family history,and the damages on prefrontal lobe are related with negative symptoms and executive functioning.

Effect of risperidone tablets on brain metabolite ratios in male first-episode schizophrenia: relationship with treatment response / 中华行为医学与脑科学杂志

Objective To identify the metabolite levels and to study the potential effects of risporidone tablets on prefrontal lobe and thalamus in male first-episode schizophrenia by proton magnetic resonance spectroscopy (1H-MRS).Methods Twenty-two male first-episode schizophrenics were examined at prefrontal lobe and thalamus by multi-voxel 1H-MRS before and after 8 weeks' risperidone tablets treatment,and 30 normal controls were assessed once.The patients were also received positive and negative syndrome scale(PANSS) and Wisconsin card sorting test (WCST) before and after treatment.The N-aeetylaspartate ( NAA ),Choline-congtaining compounds (Cho),and Creatine compounds (Cr) were measured and the ratios of NAA/Cr,Cho/Cr were determined.Results On left prefrontal lobe and left thalamus,the NAA/Cr ratio in patients before treatment demonstrated lower than those in normal controls ( ( 1.37 ± 0.33 ) vs ( 1.61 ± 0.38 ),t =2.57,P ＜ 0.05 ; ( 1.46 ± 0.35 ) vs ( 1.71 ± 0.38 ),t =2.36,P ＜ 0.05 ).There were no significant differences in both the ratios of NAA/Cr and Cho/Cr between pre- and post-treatment (P＞0.05 ).The changes of NAA/Cr on left prefrontal lobe post-treatment were negatively related with the alterations of the total score of PANSS ( r =- 0.46,P ＜ 0.05 ),the score of negative symptoms ( r =- 0.48,P ＜ 0.05 ),the responses errors ( r =- 0.42,P ＜ 0.05 ) and the porseverative errors ( r =- 0.40,P ＜ 0.05 ),meanwhile,positively related with the alterations of the categories completed ( r =0.44,P ＜0.05 ) and the conceptual level responses ( r =0.42,P ＜ 0.05 ).Conclusions Abnormalities in neuronal function and/or integrity presented on prefrontal lobe and thalamus maybe exist in male first-episode schizophrenics.Short-term antipsvchotic treatment with risperidone tablets may have no effects on measures of prefrontal lobe and thalamus.

A ~1H-MRS study of the prefrontal lobe in male schizophrenics / 中国神经精神疾病杂志

Objective To identify the metabolic alterations in the prefrontal lobe in male patients with schizophrenia by proton magnetic resonance spectroscopy (~1H-MRS), and to study the relationship between metabolic alterations and executive function. Methods The study was conducted in 26 male schizophrenics with medicine-free for at least 7 days and 28 normal controls. A multi-voxel ~1H-MRS on the prefrontal lobe was performed in all the subjects within 24 hours of admission. Wisconsin Card Sorting Test (WCST) was used to evaluate executive function. The NAA, Cho and Cr were measured and the ratios of NAA/Cr, Cho/Cr and NAA/(Cho+Cr) were calculated. Results Compared with normal controls, the patients demonstrated significantly lower NAA/Cr ratio (t=2.93, P<0.01) in the left prefrontal lobe and poorer performance in WCST (P<0.05). The NAA/Cr ratio in the left prefrontal lobe was positively associated with the responses errors and the perseverative errors of WCST(r=0.45, P＜0.05; r=0.47, P＜0.05)and negatively associated with the categories completed and conceptual level responses(r=-0.54, P＜0.01; r=-0.56, P＜0.01). Conclusions Abnormalities in neuronal function and/or integrity are present in the left prefrontal lobe of male schizophrenics. The neuron damage in the left prefrontal lobe of male schizophrenic may be the primary cause of cognition dysfunction.

1H-MRS study of prefrontal lobe and thalamus in male patients with schizophrenia / 中国医学影像技术

Objective To identify the metabolite levels in prefrontal lobe and thalamus in patients of schizophrenia with proton magnetic resonance spectroscopy (1H-MRS). Methods Twenty-six schizophrenics with medicine-free for at least 7 d and 28 normal controls were assessed in this study. All subjects underwent examination of multi-voxel 1H-MRS on prefrontal lobe and thalamus within 24 h. The NAA, Cho and Cr were measured and the ratios of NAA/Cr, Cho/Cr and NAA/(Cho+Cr) were determined. Results Compared with the controls, the NAA/Cr ratio of schizophrenics was significantly lower in left prefrontal lobe and bilateral thalamus (all P＜0.05). No statistical difference of NAA/(Cho+Cr) ratio and the Cho/Cr ratio was found between two groups. Conclusion Abnormalities in neuronal function and/or integrity are present at left prefrontal lobe and bilateral thalamus simultaneously in schizophrenics.