The interaction of several serious illnesses presents considerable difficulty for both clinicians and patients, no matter what the coexisting diseases are. This results in huge anxiety for patients and worsens the difficulties understanding the risks and benefits of the treatment of each disorder. The authors present the clinical scenario where dialysis was commenced while sodium valproate was being taken for bipolar affective disorder, demonstrating the interface between bipolar affective disorder and renal failure and how their treatments caused deterioration in the comorbid condition. This case challenges accepted wisdom regarding the effects of dialysis on the sodium valproate levels in the body and discusses key clinical management issues.
{"title":"Dialysis with bipolar affective disorder: experience of competing treatments","authors":"Emma Abbey, J. Jenkins","doi":"10.1002/pnp.801","DOIUrl":"https://doi.org/10.1002/pnp.801","url":null,"abstract":"The interaction of several serious illnesses presents considerable difficulty for both clinicians and patients, no matter what the coexisting diseases are. This results in huge anxiety for patients and worsens the difficulties understanding the risks and benefits of the treatment of each disorder. The authors present the clinical scenario where dialysis was commenced while sodium valproate was being taken for bipolar affective disorder, demonstrating the interface between bipolar affective disorder and renal failure and how their treatments caused deterioration in the comorbid condition. This case challenges accepted wisdom regarding the effects of dialysis on the sodium valproate levels in the body and discusses key clinical management issues.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46381483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 20-year-old patient with learning disability and growth impairment had limb spasticity of childhood onset principally affecting the lower limbs and of such severity that walking was not possible. He was the son of a consanguineous marriage (first cousin parents). Magnetic resonance (MR) brain imaging showed diffuse mild cerebral atrophy but striking cerebellar atrophy (Figure). Because of the suspicion of an autosomal recessive disorder, neurogenetic testing was undertaken, which included analysis of the ARG1 gene on chromosome 6q that showed a homozygous point mutation in exon 4 confirming the diagnosis of arginase deficiency. D e f i c i e n c y o f a r g i n a s e (OMIM#207800), which catalyses the hydrolysis of arginine in the final step of the urea cycle, is a rare disorder, typically presenting in childhood with developmental delay, intellectual disability, seizures, hyperargininaemia and spastic paraparesis.1 Neuroimaging typically shows mild cerebral and cerebellar atrophy2 but, as shown in this case, severe cerebellar atrophy may occur, more akin to that seen in the spinocerebellar ataxia (SCA) syndromes. Multiple mutations have been described in the ARG1 gene.3 Although arginase deficiency is an inherited disorder characterised by spastic paraparesis, it is not classified as one of the hereditary spastic paraplegias (HSP), a group of clinically and genetically heterogeneous disorders due to length-dependent damage to upper motor neurones.4 However, arginase deficiency does feature in the differential diagnosis of HSP and should be considered in any patient with childhood-onset complicated spastic paraparesis, since misdiagnosis as HSP has been reported.5 Cerebel lar atrophy on magnetic resonance imaging of the brain may point towards arginase deficiency, although this neuroimaging finding has been reported in some cases of childhood-onset HSP.6 The symptom complex of early onset physical and learning disability in this patient might initially have suggested the non-specific diagnostic category of ‘cerebral palsy’ but the neuroimaging and genetic characterisation allowed a more fine-grained diagnosis – arginase deficiency – hence opening up the opportunity for genetic counselling of the family.
{"title":"Hereditary spastic paraparesis: not always HSP!","authors":"A. Larner","doi":"10.1002/pnp.805","DOIUrl":"https://doi.org/10.1002/pnp.805","url":null,"abstract":"A 20-year-old patient with learning disability and growth impairment had limb spasticity of childhood onset principally affecting the lower limbs and of such severity that walking was not possible. He was the son of a consanguineous marriage (first cousin parents). Magnetic resonance (MR) brain imaging showed diffuse mild cerebral atrophy but striking cerebellar atrophy (Figure). Because of the suspicion of an autosomal recessive disorder, neurogenetic testing was undertaken, which included analysis of the ARG1 gene on chromosome 6q that showed a homozygous point mutation in exon 4 confirming the diagnosis of arginase deficiency. D e f i c i e n c y o f a r g i n a s e (OMIM#207800), which catalyses the hydrolysis of arginine in the final step of the urea cycle, is a rare disorder, typically presenting in childhood with developmental delay, intellectual disability, seizures, hyperargininaemia and spastic paraparesis.1 Neuroimaging typically shows mild cerebral and cerebellar atrophy2 but, as shown in this case, severe cerebellar atrophy may occur, more akin to that seen in the spinocerebellar ataxia (SCA) syndromes. Multiple mutations have been described in the ARG1 gene.3 Although arginase deficiency is an inherited disorder characterised by spastic paraparesis, it is not classified as one of the hereditary spastic paraplegias (HSP), a group of clinically and genetically heterogeneous disorders due to length-dependent damage to upper motor neurones.4 However, arginase deficiency does feature in the differential diagnosis of HSP and should be considered in any patient with childhood-onset complicated spastic paraparesis, since misdiagnosis as HSP has been reported.5 Cerebel lar atrophy on magnetic resonance imaging of the brain may point towards arginase deficiency, although this neuroimaging finding has been reported in some cases of childhood-onset HSP.6 The symptom complex of early onset physical and learning disability in this patient might initially have suggested the non-specific diagnostic category of ‘cerebral palsy’ but the neuroimaging and genetic characterisation allowed a more fine-grained diagnosis – arginase deficiency – hence opening up the opportunity for genetic counselling of the family.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47837635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Barriers to accessing autism services and social media influences around eating disorders were two of the topics covered in continuing professional development sessions at the Best Practice London meeting held in March 2023. Steve Titmarsh reports.
{"title":"Barriers to autism service access and social media influences around ED","authors":"","doi":"10.1002/pnp.804","DOIUrl":"https://doi.org/10.1002/pnp.804","url":null,"abstract":"Barriers to accessing autism services and social media influences around eating disorders were two of the topics covered in continuing professional development sessions at the Best Practice London meeting held in March 2023. Steve Titmarsh reports.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48599076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emigration of doctors is an international, longstanding, and ongoing phenomenon. Emigration of psychiatrists at various levels of their career from the UK to other countries is an occurrence talked about within peer groups and organisations. Here, the authors explore the numbers of trained psychiatrists on the specialist register of the General Medical Council who left the UK in the last five years and their countries of destination. The research uncovers the scale of the issue and the countries that exhibit strong ‘pull’ factors for psychiatrists.
{"title":"Exploring the phenomenon of emigrating psychiatrists from the UK","authors":"Alok Kulkarni, Israel Adebekun, N. Chakraborty","doi":"10.1002/pnp.797","DOIUrl":"https://doi.org/10.1002/pnp.797","url":null,"abstract":"Emigration of doctors is an international, longstanding, and ongoing phenomenon. Emigration of psychiatrists at various levels of their career from the UK to other countries is an occurrence talked about within peer groups and organisations. Here, the authors explore the numbers of trained psychiatrists on the specialist register of the General Medical Council who left the UK in the last five years and their countries of destination. The research uncovers the scale of the issue and the countries that exhibit strong ‘pull’ factors for psychiatrists.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47582547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pisa syndrome is characterised by a tonic flexion of the trunk to one side and a slight axial rotation in the sagittal plane. Recently more cases have been reported in Alzheimer's dementia and in patients treated with acetylcholinesterase inhibitor medication. Here the authors present a case of Pisa syndrome in an elderly lady treated with donepezil and highlight the importance of monitoring patients for side‐effects.
{"title":"Pisa syndrome secondary to donepezil","authors":"Vijayendra Waykar, Priyanka Jog, Je Ssy Low","doi":"10.1002/pnp.802","DOIUrl":"https://doi.org/10.1002/pnp.802","url":null,"abstract":"Pisa syndrome is characterised by a tonic flexion of the trunk to one side and a slight axial rotation in the sagittal plane. Recently more cases have been reported in Alzheimer's dementia and in patients treated with acetylcholinesterase inhibitor medication. Here the authors present a case of Pisa syndrome in an elderly lady treated with donepezil and highlight the importance of monitoring patients for side‐effects.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43476889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multidisciplinary team management of functional neurological disorder in the community","authors":"T. Gaber, Francene Jones","doi":"10.1002/pnp.806","DOIUrl":"https://doi.org/10.1002/pnp.806","url":null,"abstract":"","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46176983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Little is known about the use and effectiveness of community treatment orders (CTOs) in early psychosis. Here, the authors describe their service evaluation of patients within an NHS early intervention for psychosis service subject to CTO over a period of three years in order to evaluate the rates of CTO use, demographic, and clinical characteristics of those subject to CTO, as well as clinical outcomes. This study demonstrates how CTO use, where deemed necessary, can create real‐life, positive outcomes for service users.
{"title":"Community treatment orders in an early intervention for psychosis service","authors":"Gabriela Paduret, Marlene Kelbrick","doi":"10.1002/pnp.798","DOIUrl":"https://doi.org/10.1002/pnp.798","url":null,"abstract":"Little is known about the use and effectiveness of community treatment orders (CTOs) in early psychosis. Here, the authors describe their service evaluation of patients within an NHS early intervention for psychosis service subject to CTO over a period of three years in order to evaluate the rates of CTO use, demographic, and clinical characteristics of those subject to CTO, as well as clinical outcomes. This study demonstrates how CTO use, where deemed necessary, can create real‐life, positive outcomes for service users.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48333222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Person‐centred neurosciences: using trauma‐informed living experiences","authors":"Neil Bindemann","doi":"10.1002/pnp.795","DOIUrl":"https://doi.org/10.1002/pnp.795","url":null,"abstract":"","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49219153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cortical blindness is defined as bilateral visual loss due to disruption of the visual pathways beyond the lateral geniculate body. Visual disturbance as a result of cortical lesion can manifest in different ways. Anton's syndrome is one of the manifestations of cortical blindness, which presents as denial of loss of vision associated with confabulation in the setting of obvious visual loss. This case illustrates the challenges of diagnosing cortical blindness in the emergency setting.
{"title":"Cortical blindness: diagnostic issues in sudden bilateral visual loss","authors":"Roshan Iqbal, Saugata Das","doi":"10.1002/pnp.803","DOIUrl":"https://doi.org/10.1002/pnp.803","url":null,"abstract":"Cortical blindness is defined as bilateral visual loss due to disruption of the visual pathways beyond the lateral geniculate body. Visual disturbance as a result of cortical lesion can manifest in different ways. Anton's syndrome is one of the manifestations of cortical blindness, which presents as denial of loss of vision associated with confabulation in the setting of obvious visual loss. This case illustrates the challenges of diagnosing cortical blindness in the emergency setting.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135711685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Most inpatient rehabilitation services enjoy deep connections with their local communities. Therefore, decommissioning services often results in resentment and risks, which are shared by patients, clinicians and communities the unit serves. In this comment article, we discuss our experience dealing with the closure of a popular local neurological rehabilitation unit and how we tried not just to safeguard our patients but also to take the opportunity to further develop and improve our patients’ experience.
{"title":"Mitigating impact of neurological rehabilitation unit decommissioning","authors":"T. Gaber, E. Dunbar, Sarah Allcock, Bhaskar Basu","doi":"10.1002/pnp.796","DOIUrl":"https://doi.org/10.1002/pnp.796","url":null,"abstract":"Most inpatient rehabilitation services enjoy deep connections with their local communities. Therefore, decommissioning services often results in resentment and risks, which are shared by patients, clinicians and communities the unit serves. In this comment article, we discuss our experience dealing with the closure of a popular local neurological rehabilitation unit and how we tried not just to safeguard our patients but also to take the opportunity to further develop and improve our patients’ experience.","PeriodicalId":43913,"journal":{"name":"Progress in Neurology and Psychiatry","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45739594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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