Objective To investigate the clinical features and magnetic resonance imaging (MRI) findings of patients with Hirayama disease simply presenting proximal upper extremity muscular atrophy. Methods Three patients with H...Objective To investigate the clinical features and magnetic resonance imaging (MRI) findings of patients with Hirayama disease simply presenting proximal upper extremity muscular atrophy. Methods Three patients with Hirayama disease simply展开更多
Heart disease(HD)is a serious widespread life-threatening disease.The heart of patients with HD fails to pump sufcient amounts of blood to the entire body.Diagnosing the occurrence of HD early and efciently may preven...Heart disease(HD)is a serious widespread life-threatening disease.The heart of patients with HD fails to pump sufcient amounts of blood to the entire body.Diagnosing the occurrence of HD early and efciently may prevent the manifestation of the debilitating effects of this disease and aid in its effective treatment.Classical methods for diagnosing HD are sometimes unreliable and insufcient in analyzing the related symptoms.As an alternative,noninvasive medical procedures based on machine learning(ML)methods provide reliable HD diagnosis and efcient prediction of HD conditions.However,the existing models of automated ML-based HD diagnostic methods cannot satisfy clinical evaluation criteria because of their inability to recognize anomalies in extracted symptoms represented as classication features from patients with HD.In this study,we propose an automated heart disease diagnosis(AHDD)system that integrates a binary convolutional neural network(CNN)with a new multi-agent feature wrapper(MAFW)model.The MAFW model consists of four software agents that operate a genetic algorithm(GA),a support vector machine(SVM),and Naïve Bayes(NB).The agents instruct the GA to perform a global search on HD features and adjust the weights of SVM and BN during initial classication.A nal tuning to CNN is then performed to ensure that the best set of features are included in HD identication.The CNN consists of ve layers that categorize patients as healthy or with HD according to the analysis of optimized HD features.We evaluate the classication performance of the proposed AHDD system via 12 common ML techniques and conventional CNN models by using across-validation technique and by assessing six evaluation criteria.The AHDD system achieves the highest accuracy of 90.1%,whereas the other ML and conventional CNN models attain only 72.3%–83.8%accuracy on average.Therefore,the AHDD system proposed herein has the highest capability to identify patients with HD.This system can be used by medical practitioners to diagnose HD efciently。展开更多
Huntington’s disease（HD）is an autosomal dominant,monogenic,progressive,neurodegenerative and rare disease with a frequency of10 per 100,000 in the Caucasian population and occurring more rarely in other races（Squi...Huntington’s disease（HD）is an autosomal dominant,monogenic,progressive,neurodegenerative and rare disease with a frequency of10 per 100,000 in the Caucasian population and occurring more rarely in other races（Squitieri et al.,1994）.HD is,nevertheless,one of the most frequently and extensively studied diseases of those caused by a dynamic mutation.The HD mutation is located on the short arm of the 4th chromosome within the HTT gene.展开更多
The polymorphic CAG repeats in the IT15 gene in Chinese normal and Huntington’s dis-ease(HD)chromosomes were determined by using nested PCR and denaturing polyacry-lamide gel electrophoretic autoradiography as well a...The polymorphic CAG repeats in the IT15 gene in Chinese normal and Huntington’s dis-ease(HD)chromosomes were determined by using nested PCR and denaturing polyacry-lamide gel electrophoretic autoradiography as well as direct sequencing analysis.A total of40 normal individuals and 122 members of 13 unrelated HD families originating from Shang-hai,Jiangsu,Zhejiang,Anhui,Shandong,Guangdong and Henan,respectively,were in-volved in this study.The results showed that the(CAG)n repeat numbers in 270 normal al-leles ranged from 13 to 26 but most in 16;while in 54 HD alleles,the CAG repeats from 40to 94,with an unstable inheritance of expanded repeats in some families.There was no over-lap between the normal and affected alleles.Additionally,the presymptomatic diagnosis in103 family members at risk for HD disclosed that 35 individuals had HD alleles,which were-in accordance with the pedigree analysis and clinical investigation.All these results indicatedthat the dynamic mutation in IT15 gene was responsible for the genetic defect in the ChineseHD patients and that a correlation existed between the numbers of(CAG)n repeat and theonset age of the disease.All-of these provide valuable data for HD molecular diagnosis,ge-netic counselling and genetic health.展开更多
Huntington's disease (HD): HD is an autosomal dominant neurodegenerative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protei...Huntington's disease (HD): HD is an autosomal dominant neurodegenerative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protein contains an expanded polyglutamine sequence that confers a toxic gain-of-function and causes neurodegeneration. Moreover, several studies indicate that loss of the normal protein beneficial functions, contribute to the pathology (Schulte and Littleton 2011). Triplet expansion over 40 repeats are fully penetrant and invariably lead to manifest HD in the fourth or fifth decade of life.展开更多
Background: Transanal endorectal one-stage pull-through (TERPT) procedure in children with Hirschsprung’s disease (HD) is frequently used worldwide. In order to give the families realistic expectations and to plan th...Background: Transanal endorectal one-stage pull-through (TERPT) procedure in children with Hirschsprung’s disease (HD) is frequently used worldwide. In order to give the families realistic expectations and to plan the medical care for the years after TERPT, the long term outcome is of great importance. Aim: To collect information on the long term outcome reported after one stage TERPT procedure for HD in children 0 - 15 years. Method: A literature review on the outcome of planned TERPT from 2005 through 2012 was carried out. Information was collected on the number of daily stools a few months postoperatively, incontinence and constipation and the measures taken to deal with these. Results: The reports are few and prospective studies were missing. The results show an initial high frequency of daily stools, 12% had later abnormal stool patterns, 21% had fecal incontinence and 10% had problems with constipation. Conclusion: In order to compare the long term outcome, it would be desirable to have uniform regular reports on the daily frequency of passed stools, incontinence and constipation during the first years after TERPT. Such knowledge would be of importance for the information given to the guardians of children with HD preoperatively to TERPT and in the planning of the future care. The findings can, furthermore, provide a benchmark for the outcome from a single centre.展开更多
The National Institutes of Health （NIH）, a part of the U.S. Department of Health and Human Services, is the nation＇s medical research agency-making important discoveries that improve health and save lives.Thanks in...The National Institutes of Health （NIH）, a part of the U.S. Department of Health and Human Services, is the nation＇s medical research agency-making important discoveries that improve health and save lives.Thanks in large part to NIH-funded medical research, Americans today are living longer and healthier. Life expectancy in the United States has jumped from 47 years in 1900 to 78 years as reported in 2009, and disability in people over age 65 has dropped dramatically in the past 3 decades. In recent years, nationwide rates of new diagnoses and deaths from all cancers combined have fallen significantly.展开更多
Huntington＇s disease （HD） is the most common dominantly inherited neurodegenerative disorder, mainly characterized by the progressive striatal and cortical neurodegeneration and as- sociated motor, cognitive and be...Huntington＇s disease （HD） is the most common dominantly inherited neurodegenerative disorder, mainly characterized by the progressive striatal and cortical neurodegeneration and as- sociated motor, cognitive and behavioural disturbances （Zuccato et al., 2010）. The disease-causing mutation is an expansion of a GAG trinucleotide repeat （〉 36 repeats） encoding a polygluta- mine stretch in the N-terminal region ofhuntingtin （Htt） （Zuc- cato et al., 2010）, a ubiquitous protein whose function is still unclear （Zuccato et al., 2010）. Expansion of the polyQ stretch endows mutant Htt （mHtt） with toxic properties, and results in the development of a broad array of undesirable effects in both neuronal and non-neuronal cells （Zuccato et al., 2010）. Among all cellular dysfunctions and biochemical imbalances classically associated with HD, perturbed metabolism of （glyco） sphingolipids appears to play a crucial role in the pathogenesis of the disease. Over the last years, we and other have extensively contributed to these findings （Desplats et al., 2007;展开更多
Huntington’s disease（HD）is a currently incurable,late onset,progressive,ultimately fatal neurological disorder（Bates et al.,2015）.We have recently published the results of comprehensive genetic interaction tests ...Huntington’s disease（HD）is a currently incurable,late onset,progressive,ultimately fatal neurological disorder（Bates et al.,2015）.We have recently published the results of comprehensive genetic interaction tests aimed at identification of histone methyltransferases and demethylases involved in HD pathogenesis in a Drosophila model of the disease（Song et al.,2018）.展开更多
文摘Objective To investigate the clinical features and magnetic resonance imaging (MRI) findings of patients with Hirayama disease simply presenting proximal upper extremity muscular atrophy. Methods Three patients with Hirayama disease simply
文摘Heart disease(HD)is a serious widespread life-threatening disease.The heart of patients with HD fails to pump sufcient amounts of blood to the entire body.Diagnosing the occurrence of HD early and efciently may prevent the manifestation of the debilitating effects of this disease and aid in its effective treatment.Classical methods for diagnosing HD are sometimes unreliable and insufcient in analyzing the related symptoms.As an alternative,noninvasive medical procedures based on machine learning(ML)methods provide reliable HD diagnosis and efcient prediction of HD conditions.However,the existing models of automated ML-based HD diagnostic methods cannot satisfy clinical evaluation criteria because of their inability to recognize anomalies in extracted symptoms represented as classication features from patients with HD.In this study,we propose an automated heart disease diagnosis(AHDD)system that integrates a binary convolutional neural network(CNN)with a new multi-agent feature wrapper(MAFW)model.The MAFW model consists of four software agents that operate a genetic algorithm(GA),a support vector machine(SVM),and Naïve Bayes(NB).The agents instruct the GA to perform a global search on HD features and adjust the weights of SVM and BN during initial classication.A nal tuning to CNN is then performed to ensure that the best set of features are included in HD identication.The CNN consists of ve layers that categorize patients as healthy or with HD according to the analysis of optimized HD features.We evaluate the classication performance of the proposed AHDD system via 12 common ML techniques and conventional CNN models by using across-validation technique and by assessing six evaluation criteria.The AHDD system achieves the highest accuracy of 90.1%,whereas the other ML and conventional CNN models attain only 72.3%–83.8%accuracy on average.Therefore,the AHDD system proposed herein has the highest capability to identify patients with HD.This system can be used by medical practitioners to diagnose HD efciently。
文摘Huntington’s disease（HD）is an autosomal dominant,monogenic,progressive,neurodegenerative and rare disease with a frequency of10 per 100,000 in the Caucasian population and occurring more rarely in other races（Squitieri et al.,1994）.HD is,nevertheless,one of the most frequently and extensively studied diseases of those caused by a dynamic mutation.The HD mutation is located on the short arm of the 4th chromosome within the HTT gene.
基金the High Technology Research Development Programme of China
文摘The polymorphic CAG repeats in the IT15 gene in Chinese normal and Huntington’s dis-ease(HD)chromosomes were determined by using nested PCR and denaturing polyacry-lamide gel electrophoretic autoradiography as well as direct sequencing analysis.A total of40 normal individuals and 122 members of 13 unrelated HD families originating from Shang-hai,Jiangsu,Zhejiang,Anhui,Shandong,Guangdong and Henan,respectively,were in-volved in this study.The results showed that the(CAG)n repeat numbers in 270 normal al-leles ranged from 13 to 26 but most in 16;while in 54 HD alleles,the CAG repeats from 40to 94,with an unstable inheritance of expanded repeats in some families.There was no over-lap between the normal and affected alleles.Additionally,the presymptomatic diagnosis in103 family members at risk for HD disclosed that 35 individuals had HD alleles,which were-in accordance with the pedigree analysis and clinical investigation.All these results indicatedthat the dynamic mutation in IT15 gene was responsible for the genetic defect in the ChineseHD patients and that a correlation existed between the numbers of(CAG)n repeat and theonset age of the disease.All-of these provide valuable data for HD molecular diagnosis,ge-netic counselling and genetic health.
基金supported by Sapienza University of Rome(2017/2018)European Huntington’s Disease Network(EHDN)funded by CHDI foundation,Inc(0942)
文摘Huntington's disease (HD): HD is an autosomal dominant neurodegenerative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protein contains an expanded polyglutamine sequence that confers a toxic gain-of-function and causes neurodegeneration. Moreover, several studies indicate that loss of the normal protein beneficial functions, contribute to the pathology (Schulte and Littleton 2011). Triplet expansion over 40 repeats are fully penetrant and invariably lead to manifest HD in the fourth or fifth decade of life.
文摘Background: Transanal endorectal one-stage pull-through (TERPT) procedure in children with Hirschsprung’s disease (HD) is frequently used worldwide. In order to give the families realistic expectations and to plan the medical care for the years after TERPT, the long term outcome is of great importance. Aim: To collect information on the long term outcome reported after one stage TERPT procedure for HD in children 0 - 15 years. Method: A literature review on the outcome of planned TERPT from 2005 through 2012 was carried out. Information was collected on the number of daily stools a few months postoperatively, incontinence and constipation and the measures taken to deal with these. Results: The reports are few and prospective studies were missing. The results show an initial high frequency of daily stools, 12% had later abnormal stool patterns, 21% had fecal incontinence and 10% had problems with constipation. Conclusion: In order to compare the long term outcome, it would be desirable to have uniform regular reports on the daily frequency of passed stools, incontinence and constipation during the first years after TERPT. Such knowledge would be of importance for the information given to the guardians of children with HD preoperatively to TERPT and in the planning of the future care. The findings can, furthermore, provide a benchmark for the outcome from a single centre.
文摘The National Institutes of Health （NIH）, a part of the U.S. Department of Health and Human Services, is the nation＇s medical research agency-making important discoveries that improve health and save lives.Thanks in large part to NIH-funded medical research, Americans today are living longer and healthier. Life expectancy in the United States has jumped from 47 years in 1900 to 78 years as reported in 2009, and disability in people over age 65 has dropped dramatically in the past 3 decades. In recent years, nationwide rates of new diagnoses and deaths from all cancers combined have fallen significantly.
基金supported by"Fondazione Neuromed"funded by Italian Ministry of Health"Ricerca Corrente"funding program
文摘Huntington＇s disease （HD） is the most common dominantly inherited neurodegenerative disorder, mainly characterized by the progressive striatal and cortical neurodegeneration and as- sociated motor, cognitive and behavioural disturbances （Zuccato et al., 2010）. The disease-causing mutation is an expansion of a GAG trinucleotide repeat （〉 36 repeats） encoding a polygluta- mine stretch in the N-terminal region ofhuntingtin （Htt） （Zuc- cato et al., 2010）, a ubiquitous protein whose function is still unclear （Zuccato et al., 2010）. Expansion of the polyQ stretch endows mutant Htt （mHtt） with toxic properties, and results in the development of a broad array of undesirable effects in both neuronal and non-neuronal cells （Zuccato et al., 2010）. Among all cellular dysfunctions and biochemical imbalances classically associated with HD, perturbed metabolism of （glyco） sphingolipids appears to play a crucial role in the pathogenesis of the disease. Over the last years, we and other have extensively contributed to these findings （Desplats et al., 2007;
基金supported by Hungarian National Research,Development and Innovation Office(NKFIH) grants K-112294GINOP-2.3.2-15-2016-00032 and GINOP-2.3.2-15-2016-00034 to LB
文摘Huntington’s disease（HD）is a currently incurable,late onset,progressive,ultimately fatal neurological disorder（Bates et al.,2015）.We have recently published the results of comprehensive genetic interaction tests aimed at identification of histone methyltransferases and demethylases involved in HD pathogenesis in a Drosophila model of the disease（Song et al.,2018）.
