Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopme...Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.展开更多
BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a...BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.展开更多
Tourette syndrome(TS) is a neurodevelopmental disorder characterized by multiple chronic motor and vocal tics beginning in childhood. Several studies describe the association between TS and attention deficit hyperacti...Tourette syndrome(TS) is a neurodevelopmental disorder characterized by multiple chronic motor and vocal tics beginning in childhood. Several studies describe the association between TS and attention deficit hyperactivity disorder(ADHD). Fifty percent of children diagnosed with ADHD have comorbid tic disorder. ADHD related symptoms have been reported in 35% to 90% of children with TS. Since ADHD is the most prevalent comorbid condition with TS and those with concomitant TS and ADHD present with considerable psychosocial and behavioral impairments, it is essential for clinicians to be familiar with these diagnoses and their management. This paper highlights the association between treating ADHD with stimulants and the development of tic disorders. The two cases discussed underscore the fact that children with TS may present with ADHD symptomatology prior to the appearance of any TS related symptoms. Appropriate management of TS in a patient diagnosed with ADHD can lead to quality of life improvements and a reduction in psychosocial impairments.展开更多
Objective: To explore the direct and/or the enhancing antihypertensive effects of wind-dispelling herbs involvingFangfeng (Saposhnikoviae Radix) and Baizhi (Angelicae dahuricae Radix) using liver-yang hyperactivi...Objective: To explore the direct and/or the enhancing antihypertensive effects of wind-dispelling herbs involvingFangfeng (Saposhnikoviae Radix) and Baizhi (Angelicae dahuricae Radix) using liver-yang hyperactivity renalhypertension rat. Methods: Model rats with hyperactivity of liver-yang hyperactivity were prepared using male SD rats.Once successful, the rats were randomly divided into groups and given medicine by gavage for 4 weeks. Blood wascollected from the abdominal aorta to prepare serum. Serum nitric oxide (NO) concentration was determined bychemical colorimetry. The contents of ET, TXB2 and 6-K-PGF1a were determined by enzyme linked immunosorbentassay (ELISA). Results: Compared with the control model group, the blood pressure, serum ET and TXB2 of rats in thewind dispelling medicine group was not significantly reduced, while those of rats in captopril group, Tianma GoutengDecoction I group (TGD group) decreased significantly (P 〈0.05 for both). Interestingly, the blood pressure, serum ETand TXB2 of rats in the combination group (wind dispelling medicine & TGD) decreased significantly compared withboth wind dispelling medicine group and TGD group. Meanwhile, the levels of serum NO and 6- K-PGF1a in thecombination group was much higher than those in the wind dispelling medicine group or TGD group (P 〈0.05 for both).However, the levels of serum NO and 6- K-PGF1a in the wind dispelling medicine group was not significantly increasedcompared with the model group. Conclusion: There is no direct pressure lowering effects of wind dispelling medicinealone, while wind dispelling medicine could potentiates the antihypertensive effects of Tianma Gouteng Decoction I.Besides, the synergistic effects may be related to decreased ET and TXB2 levels and the increased NO and 6- K-PGF1alevels.展开更多
Attention deficit hyperactivity disorder(ADHD) is the most common neurodevelopmental disorder in children and adolescents, with prevalence ranging between 5% and 12% in the developed countries. Tic disorders(TD) are c...Attention deficit hyperactivity disorder(ADHD) is the most common neurodevelopmental disorder in children and adolescents, with prevalence ranging between 5% and 12% in the developed countries. Tic disorders(TD) are common co-morbidities in paediatric ADHD patients with or without pharmacotherapy treatment. There has been conflicting evidence of the role of psychostimulants in either precipitating or exacerbating TDs in ADHD patients. We carried out a literature review relating to the management of TDs in children and adolescents with ADHD through a comprehensive search of MEDLINE, EMBASE, CINAHL and Cochrane databases. No quantitative synthesis(meta-analysis) was deemed appropriate. Metaanalysis of controlled trials does not support an association between new onset or worsening of tics and normal doses of psychostimulant use. Supratherapeutic doses of dextroamphetamine have been shown to exacerbate TD. Most tics are mild or moderate and respond to psychoeducation and behavioural management. Level A evidence support the use of alpha adrenergic agonists, including Clonidine and Guanfacine, reuptake noradrenenaline inhibitors(Atomoxetine) and stimulants(Methylphenidate and Dexamphetamines) for the treatment of Tics and comorbid ADHD. Priority should be given to the management of co-morbid Tourette's syndrome(TS) or severely disabling tics in children and adolescents with ADHD. Severe TDs may require antipsychotic treatment. Antipsychotics, especially Aripiprazole, are safe and effective treatment for TS or severe Tics, but they only moderately control the co-occurring ADHD symptomatology. Short vignettes of different common clinical scenarios are presented to help clinicians determine the most appropriate treatment to consider in each patient presenting with ADHD and co-morbid TDs.展开更多
Objective: To observe the clinical efficacy of Tuina (Chinese therapeutic massage) plus electroacupuncture in treating migraine due to liver-Yang hyperactivity and the effects on the serum levels of calcitonin gene-re...Objective: To observe the clinical efficacy of Tuina (Chinese therapeutic massage) plus electroacupuncture in treating migraine due to liver-Yang hyperactivity and the effects on the serum levels of calcitonin gene-related peptide (CGRP) and prostaglandin (PG) E_(2). Methods: A total of 122 patients with migraine due to liver-Yang hyperactivity were recruited and randomized into a control group and an observation group, each consisting of 61 cases. The control group was given Tong Nao Huo Luo acupuncture (acupuncture treatment for unblocking brain collaterals), and the observation group was Tuina treatment focusing on cervical Ashi points in addition to the intervention received by the control group. Both groups were treated once daily for 21 consecutive days. When the intervention finished, the two groups were observed for changes in the headache score, symptom and sign scores of traditional Chinese medicine (TCM), the severity of impact on life, and serum CGRP and PGE_(2) levels. The clinical efficacy was compared after 21 d of treatment. Results: The observation group had a higher total effective rate than the control group, 90.2% versus 73.8% (P<0.05);after treatment, the headache and TCM symptom and sign scores decreased in both groups (P<0.05) and were lower in the observation group than in the control group (P<0.05);the migraine’s impact on life was less severe in the observation group than in the control group (P<0.05);the levels of serum CGRP and PGE_(2) dropped in the two groups (P<0.05) and were lower in the observation group (P<0.05). Conclusion: Tong Nao Huo Luo acupuncture can produce more significant efficacy in treating migraine due to liver-Yang hyperactivity when combined with cervical Tuina at Ashi points, better alleviating the headache, improving TCM symptoms and body signs, and reducing the impact of headache on life. The mechanism may be associated with inhibiting the expression of serum pain factors CGRP and PGE_(2).展开更多
OBJECTIVE: To assess the efficacy of Tianma- gouteng decoction in the treatment of primary hypertension with liver yang hyperactivity syndrome. METHODS: The databases of MEDLINE (1950- 2012), EMbase (1980-2012),...OBJECTIVE: To assess the efficacy of Tianma- gouteng decoction in the treatment of primary hypertension with liver yang hyperactivity syndrome. METHODS: The databases of MEDLINE (1950- 2012), EMbase (1980-2012), China biology medicine (CBM) (1994-2012), China national knowledge infrastructure (CNKI) (1989-2012), Weipu (VIP) (1995-2012) and Wanfang (1989-2012) were searched and we performed manual searches for conference proceedings to select randomized controlled trials (RCTs) on Tianmagouteng decoction for the treatment of primary hypertension with liver Yang hyperactivity syndrome. Studies were en- rolled according to the study-selecting criteria. The methodological quality was evaluated, data were extracted and meta-analyses were conducted with RevMan 4.2 software. RESULTS: Nine RCTs were selected involving 784 patients with no significant difference in decrease in systolic blood pressure (SBP)[0R=1.02, 9.5% CI (-0.24, 2.29), P=0.10] and diastolic blood pressure(DBP) [OR=0.56, 95% CI (-0.10,1.23), P=0.11] between the Tianmagouteng group and the control group. While there was a significantly larger increase in serum superoxide dismutase (SOD)[OR= 6.26, 95% CI (1.27,11.66), P=0. 01] in the Tianmagouteng group than that in the control group CONCLUSION: Tianmagouteng decoction can decrease both systolic and diastolic blood pressure and greatly increase serum SOD. Due to poor quality of included studies, the efficacy needs to be further assessed.展开更多
Objective: To construct gene co-occurrence network of hypertension and liver-fire hyperactivity syndrome, to investigate the biological basis of hypertension and liver-fire hyperactivity syndrome and the characteristi...Objective: To construct gene co-occurrence network of hypertension and liver-fire hyperactivity syndrome, to investigate the biological basis of hypertension and liver-fire hyperactivity syndrome and the characteristics of the molecular network from gene level.Materials and Methods: Applying Gen CLip 2.0 online platform to retrieve the up-to-date literature referred to essential hypertension from PubMed database, cluster the abnormal expression of essential hypertension-related genes and analyze their function, combining Kyoto encyclopedia of genes and genomes-pathway analysis to investigate the closely related genes and the signaling molecules.Based on the genes closely related to hypertension, standard diagnostic symptoms of liver-fire hyperactivity were used as keywords to conduct hypertension liver-fire hyperactivity-related gene cluster analysis.Results: The top 1000 genes of essential hypertension were retrieved from GenCLip 2.0 online platform, which mainly clustered in the regulation of ambulatory blood pressure, regulation of renin-angiotensin-aldosterone system(RAAS), and sympathetic nervous system activity, as well as endothelial dysfunction; the closely related genes of hypertension with liver-fire hyperactivity are related to RAAS, gene REN, angiotensin converting enzyme, angiotensinogen, and cytochrome P450 family CYP2D6.Conclusion: A combination of literature mining and data mining can construct the gene network of hypertension and the syndrome-related genes, which provides a new method for the study of the biological basis of hypertension from the genetic level.展开更多
基金Supported by Natural Science Foundation of Shanghai,No.17ZR1431400National Key R and D Program of China,No.2017YFA0103902.
文摘Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.
文摘BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
文摘Tourette syndrome(TS) is a neurodevelopmental disorder characterized by multiple chronic motor and vocal tics beginning in childhood. Several studies describe the association between TS and attention deficit hyperactivity disorder(ADHD). Fifty percent of children diagnosed with ADHD have comorbid tic disorder. ADHD related symptoms have been reported in 35% to 90% of children with TS. Since ADHD is the most prevalent comorbid condition with TS and those with concomitant TS and ADHD present with considerable psychosocial and behavioral impairments, it is essential for clinicians to be familiar with these diagnoses and their management. This paper highlights the association between treating ADHD with stimulants and the development of tic disorders. The two cases discussed underscore the fact that children with TS may present with ADHD symptomatology prior to the appearance of any TS related symptoms. Appropriate management of TS in a patient diagnosed with ADHD can lead to quality of life improvements and a reduction in psychosocial impairments.
文摘Objective: To explore the direct and/or the enhancing antihypertensive effects of wind-dispelling herbs involvingFangfeng (Saposhnikoviae Radix) and Baizhi (Angelicae dahuricae Radix) using liver-yang hyperactivity renalhypertension rat. Methods: Model rats with hyperactivity of liver-yang hyperactivity were prepared using male SD rats.Once successful, the rats were randomly divided into groups and given medicine by gavage for 4 weeks. Blood wascollected from the abdominal aorta to prepare serum. Serum nitric oxide (NO) concentration was determined bychemical colorimetry. The contents of ET, TXB2 and 6-K-PGF1a were determined by enzyme linked immunosorbentassay (ELISA). Results: Compared with the control model group, the blood pressure, serum ET and TXB2 of rats in thewind dispelling medicine group was not significantly reduced, while those of rats in captopril group, Tianma GoutengDecoction I group (TGD group) decreased significantly (P 〈0.05 for both). Interestingly, the blood pressure, serum ETand TXB2 of rats in the combination group (wind dispelling medicine & TGD) decreased significantly compared withboth wind dispelling medicine group and TGD group. Meanwhile, the levels of serum NO and 6- K-PGF1a in thecombination group was much higher than those in the wind dispelling medicine group or TGD group (P 〈0.05 for both).However, the levels of serum NO and 6- K-PGF1a in the wind dispelling medicine group was not significantly increasedcompared with the model group. Conclusion: There is no direct pressure lowering effects of wind dispelling medicinealone, while wind dispelling medicine could potentiates the antihypertensive effects of Tianma Gouteng Decoction I.Besides, the synergistic effects may be related to decreased ET and TXB2 levels and the increased NO and 6- K-PGF1alevels.
文摘Attention deficit hyperactivity disorder(ADHD) is the most common neurodevelopmental disorder in children and adolescents, with prevalence ranging between 5% and 12% in the developed countries. Tic disorders(TD) are common co-morbidities in paediatric ADHD patients with or without pharmacotherapy treatment. There has been conflicting evidence of the role of psychostimulants in either precipitating or exacerbating TDs in ADHD patients. We carried out a literature review relating to the management of TDs in children and adolescents with ADHD through a comprehensive search of MEDLINE, EMBASE, CINAHL and Cochrane databases. No quantitative synthesis(meta-analysis) was deemed appropriate. Metaanalysis of controlled trials does not support an association between new onset or worsening of tics and normal doses of psychostimulant use. Supratherapeutic doses of dextroamphetamine have been shown to exacerbate TD. Most tics are mild or moderate and respond to psychoeducation and behavioural management. Level A evidence support the use of alpha adrenergic agonists, including Clonidine and Guanfacine, reuptake noradrenenaline inhibitors(Atomoxetine) and stimulants(Methylphenidate and Dexamphetamines) for the treatment of Tics and comorbid ADHD. Priority should be given to the management of co-morbid Tourette's syndrome(TS) or severely disabling tics in children and adolescents with ADHD. Severe TDs may require antipsychotic treatment. Antipsychotics, especially Aripiprazole, are safe and effective treatment for TS or severe Tics, but they only moderately control the co-occurring ADHD symptomatology. Short vignettes of different common clinical scenarios are presented to help clinicians determine the most appropriate treatment to consider in each patient presenting with ADHD and co-morbid TDs.
文摘Objective: To observe the clinical efficacy of Tuina (Chinese therapeutic massage) plus electroacupuncture in treating migraine due to liver-Yang hyperactivity and the effects on the serum levels of calcitonin gene-related peptide (CGRP) and prostaglandin (PG) E_(2). Methods: A total of 122 patients with migraine due to liver-Yang hyperactivity were recruited and randomized into a control group and an observation group, each consisting of 61 cases. The control group was given Tong Nao Huo Luo acupuncture (acupuncture treatment for unblocking brain collaterals), and the observation group was Tuina treatment focusing on cervical Ashi points in addition to the intervention received by the control group. Both groups were treated once daily for 21 consecutive days. When the intervention finished, the two groups were observed for changes in the headache score, symptom and sign scores of traditional Chinese medicine (TCM), the severity of impact on life, and serum CGRP and PGE_(2) levels. The clinical efficacy was compared after 21 d of treatment. Results: The observation group had a higher total effective rate than the control group, 90.2% versus 73.8% (P<0.05);after treatment, the headache and TCM symptom and sign scores decreased in both groups (P<0.05) and were lower in the observation group than in the control group (P<0.05);the migraine’s impact on life was less severe in the observation group than in the control group (P<0.05);the levels of serum CGRP and PGE_(2) dropped in the two groups (P<0.05) and were lower in the observation group (P<0.05). Conclusion: Tong Nao Huo Luo acupuncture can produce more significant efficacy in treating migraine due to liver-Yang hyperactivity when combined with cervical Tuina at Ashi points, better alleviating the headache, improving TCM symptoms and body signs, and reducing the impact of headache on life. The mechanism may be associated with inhibiting the expression of serum pain factors CGRP and PGE_(2).
文摘OBJECTIVE: To assess the efficacy of Tianma- gouteng decoction in the treatment of primary hypertension with liver yang hyperactivity syndrome. METHODS: The databases of MEDLINE (1950- 2012), EMbase (1980-2012), China biology medicine (CBM) (1994-2012), China national knowledge infrastructure (CNKI) (1989-2012), Weipu (VIP) (1995-2012) and Wanfang (1989-2012) were searched and we performed manual searches for conference proceedings to select randomized controlled trials (RCTs) on Tianmagouteng decoction for the treatment of primary hypertension with liver Yang hyperactivity syndrome. Studies were en- rolled according to the study-selecting criteria. The methodological quality was evaluated, data were extracted and meta-analyses were conducted with RevMan 4.2 software. RESULTS: Nine RCTs were selected involving 784 patients with no significant difference in decrease in systolic blood pressure (SBP)[0R=1.02, 9.5% CI (-0.24, 2.29), P=0.10] and diastolic blood pressure(DBP) [OR=0.56, 95% CI (-0.10,1.23), P=0.11] between the Tianmagouteng group and the control group. While there was a significantly larger increase in serum superoxide dismutase (SOD)[OR= 6.26, 95% CI (1.27,11.66), P=0. 01] in the Tianmagouteng group than that in the control group CONCLUSION: Tianmagouteng decoction can decrease both systolic and diastolic blood pressure and greatly increase serum SOD. Due to poor quality of included studies, the efficacy needs to be further assessed.
基金supported by the National Natural Science Foundation of China (81503382), (81603499), (81473521)the National Basic Research Program of China (973 Program) under Grant No.2011CB505106scientific research project of Beijing University of Chinese Medicine (2015-JYB-JSMS036) and (2018-JYB-XJQ009)
文摘Objective: To construct gene co-occurrence network of hypertension and liver-fire hyperactivity syndrome, to investigate the biological basis of hypertension and liver-fire hyperactivity syndrome and the characteristics of the molecular network from gene level.Materials and Methods: Applying Gen CLip 2.0 online platform to retrieve the up-to-date literature referred to essential hypertension from PubMed database, cluster the abnormal expression of essential hypertension-related genes and analyze their function, combining Kyoto encyclopedia of genes and genomes-pathway analysis to investigate the closely related genes and the signaling molecules.Based on the genes closely related to hypertension, standard diagnostic symptoms of liver-fire hyperactivity were used as keywords to conduct hypertension liver-fire hyperactivity-related gene cluster analysis.Results: The top 1000 genes of essential hypertension were retrieved from GenCLip 2.0 online platform, which mainly clustered in the regulation of ambulatory blood pressure, regulation of renin-angiotensin-aldosterone system(RAAS), and sympathetic nervous system activity, as well as endothelial dysfunction; the closely related genes of hypertension with liver-fire hyperactivity are related to RAAS, gene REN, angiotensin converting enzyme, angiotensinogen, and cytochrome P450 family CYP2D6.Conclusion: A combination of literature mining and data mining can construct the gene network of hypertension and the syndrome-related genes, which provides a new method for the study of the biological basis of hypertension from the genetic level.