Advances in amyotrophic lateral sclerosis(ALS)research:Research in ALS has gained unprecedented momentum in recent years fueled by important conceptual developments,establishment of international consortia,breakthroug...Advances in amyotrophic lateral sclerosis(ALS)research:Research in ALS has gained unprecedented momentum in recent years fueled by important conceptual developments,establishment of international consortia,breakthrough genetic discoveries and relentless technological advances.The first genotypespecific pharmaceutical trials signal the paradigm shift from the notion of‘one-drug-for-all’to precision,individualized therapies.The once arcane presymptomatic phase of the disease is gradually unraveled by seminal studies of asymptomatic mutation carriers(Geevasinga et al.,2015;Querin et al.,2019).展开更多
Objective: The purpose of this study was to investigate the prevalence of peri pheral neuropathy in patients with β thalas saemia. Methods: Thirty six patie nts with a mean age of 29.2 ±.8.2 years and 17 healthy...Objective: The purpose of this study was to investigate the prevalence of peri pheral neuropathy in patients with β thalas saemia. Methods: Thirty six patie nts with a mean age of 29.2 ±.8.2 years and 17 healthy controls with a mean age of 27.6 ±.9.1 were included in this study. Measurements included the neuropath y symptoms score (NSS), the neuropathy disability score (NDS) as well as nerve c onduction studies of two motor (ulnar and peroneal) and two sensory (ulnar and s ural) nerves of the right limbs. Results: A mainly sensory axonal polyneuropathy was present in 19 out of 36 patients (52.7%). Eight out of these 19 patients a lso had abnormal NDS values. The neuropathy correlated significantly with the ag e of the patients and the hematocrit. However, it did not correlate with the pre sence of antibodies against HCV, the ferritin levels, or with a history of trans fusions, desferrioxamine treatment, or splenectomy. Conclusions: This study show ed a high prevalence of a predominantly sensory neuropathy in patients with β thalassaemia. The electrophysiological data suggest that the underlying patholog y is an axonopathy. Chronic hypoxia of the nerves resulting from severe anaemia may contribute to the pathogenesis of this neuropathy.展开更多
Neuromyelitis optica(NMO)is an autoimmune demyelinating disorder,predominantly characterized by severe optic neuritis,transverse myelitis and the high level of antibodies against aquaporin-4(AQP4)or NMO-immunoglobulin...Neuromyelitis optica(NMO)is an autoimmune demyelinating disorder,predominantly characterized by severe optic neuritis,transverse myelitis and the high level of antibodies against aquaporin-4(AQP4)or NMO-immunoglobulin G(IgG).Researches trying to correlate NMO with specific human leukocyte antigen(HLA)alleles took place in a limited extend in the last few years.Nevertheless,it has become clear that HLAs play a crucial role in the genetic risk of NMO,in the understanding of its pathogenesis and the differential diagnosis mainly from multiple sclerosis(MS),and also from other demyelinating diseases.In this study,we retrieved all the available data in the MEDLINE concerning the distribution of HLA frequencies in NMO and NMO-spectrum diseases,in all available ethnic groups,and compared them with those of MS.The results suggest that,the well-established HLA-DRB1*15:01 allele,associated with MS,plays rather a protective role for NMO.HLA-DRB1*03 allele is highly frequent in the NMO-IgG positive Caucasian patients,while HLA-DPB1*05:01 is the predominant allele in Japanese patients.The HLA-genotype and anti-AQP4 presence are the common immunological components in cases of comorbidity of NMO and other autoimmune diseases.The authors aim to summarize in the critical review the results of these researches worldwide,create a workable table including all this information for an easier reading approach and highlight the importance of these results in therapeutic decision making,using the HLA profile as biomarker in patients’stratification.展开更多
基金supported by the Spastic Paraplegia Foundation,Inc.(SPF),the Health Research Board(HRB EIA-2017-019)the EU Joint Programme–Neurodegenerative Disease Research(JPND)+4 种基金the Andrew Lydon scholarship,the Irish Institute of Clinical Neuroscience(IICN),and the Iris O’Brien FoundationPB is the patron of the Irish Motor Neuron Disease Association(IMNDA)FC is supported by the EU-IKY Scholarship Program(European Social Fund-ESF)the Greek“Reinforcement of Postdoctoral Researchers”grant(5033021)of the“Human Resources Development ProgramEducation and Lifelong Learning”of the National Strategic Reference Framework(NSRF 2014-2020).
文摘Advances in amyotrophic lateral sclerosis(ALS)research:Research in ALS has gained unprecedented momentum in recent years fueled by important conceptual developments,establishment of international consortia,breakthrough genetic discoveries and relentless technological advances.The first genotypespecific pharmaceutical trials signal the paradigm shift from the notion of‘one-drug-for-all’to precision,individualized therapies.The once arcane presymptomatic phase of the disease is gradually unraveled by seminal studies of asymptomatic mutation carriers(Geevasinga et al.,2015;Querin et al.,2019).
文摘Objective: The purpose of this study was to investigate the prevalence of peri pheral neuropathy in patients with β thalas saemia. Methods: Thirty six patie nts with a mean age of 29.2 ±.8.2 years and 17 healthy controls with a mean age of 27.6 ±.9.1 were included in this study. Measurements included the neuropath y symptoms score (NSS), the neuropathy disability score (NDS) as well as nerve c onduction studies of two motor (ulnar and peroneal) and two sensory (ulnar and s ural) nerves of the right limbs. Results: A mainly sensory axonal polyneuropathy was present in 19 out of 36 patients (52.7%). Eight out of these 19 patients a lso had abnormal NDS values. The neuropathy correlated significantly with the ag e of the patients and the hematocrit. However, it did not correlate with the pre sence of antibodies against HCV, the ferritin levels, or with a history of trans fusions, desferrioxamine treatment, or splenectomy. Conclusions: This study show ed a high prevalence of a predominantly sensory neuropathy in patients with β thalassaemia. The electrophysiological data suggest that the underlying patholog y is an axonopathy. Chronic hypoxia of the nerves resulting from severe anaemia may contribute to the pathogenesis of this neuropathy.
文摘Neuromyelitis optica(NMO)is an autoimmune demyelinating disorder,predominantly characterized by severe optic neuritis,transverse myelitis and the high level of antibodies against aquaporin-4(AQP4)or NMO-immunoglobulin G(IgG).Researches trying to correlate NMO with specific human leukocyte antigen(HLA)alleles took place in a limited extend in the last few years.Nevertheless,it has become clear that HLAs play a crucial role in the genetic risk of NMO,in the understanding of its pathogenesis and the differential diagnosis mainly from multiple sclerosis(MS),and also from other demyelinating diseases.In this study,we retrieved all the available data in the MEDLINE concerning the distribution of HLA frequencies in NMO and NMO-spectrum diseases,in all available ethnic groups,and compared them with those of MS.The results suggest that,the well-established HLA-DRB1*15:01 allele,associated with MS,plays rather a protective role for NMO.HLA-DRB1*03 allele is highly frequent in the NMO-IgG positive Caucasian patients,while HLA-DPB1*05:01 is the predominant allele in Japanese patients.The HLA-genotype and anti-AQP4 presence are the common immunological components in cases of comorbidity of NMO and other autoimmune diseases.The authors aim to summarize in the critical review the results of these researches worldwide,create a workable table including all this information for an easier reading approach and highlight the importance of these results in therapeutic decision making,using the HLA profile as biomarker in patients’stratification.