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Benign Idiopathic Myoclonus: A New Clinical Entity?
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-15 DOI: 10.1002/mdc3.70039
Giorgia Sciacca, A M Madelein van der Stouwe, Sterre van der Veen, Hendriekje Eggink, Martje E van Egmond, Jan Willem J Elting, Marina A J Tijssen

Background: Myoclonus is a brief shock-like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.

Objectives: We suggest a new nosological entity in the physiologic group: "benign idiopathic myoclonus."

Methods: We present a cohort of patients with isolated adolescent-onset, distal limb myoclonus at rest and during action, in absence of a known cause and disabling progression, who underwent both clinical and neurophysiological examination in our tertiary Movement Disorders Expertise Center Groningen.

Results: Fifteen patients (4 men [26.7%]; age at onset, 18.1 ± 3.6 years; disease-duration, 5.3 ± 3.7 years) were assessed. Neurophysiological examinations, including electromyography (EMG) (n = 14), somatosensory evoked potentials (SEPs, n = 4); electroencephalography (EEG)-EMG with back-averaging (BA, n = 11) and cortico-muscular coherence (CMC, n = 10), confirmed the clinical diagnosis of myoclonus in all patients. Mean EMG burst duration was 62.6 ± 13.7 ms and a cortical origin of myoclonus was demonstrated in six cases (40%). No genetic causes were found. Follow-up at 0.5 to 8 years depicted clinically stable conditions in eight patients (61.5%), complete remission in four (30.8%), whereas one patient (7.7%) reported slight progression.

Conclusions: We suggest a new phenotype of physiologic myoclonus, which might be called "benign idiopathic myoclonus." It is characterized by distal myoclonus with onset during adolescence and benign course, without requiring treatment. Clinically and neurophysiologically these jerky movements were compatible with cortical myoclonus in some patients. We were unable to establish any genetic causes in explored cases. This phenotype might represent a particular subgroup of physiologic myoclonus, to be substantiated in multicenter cohorts.

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引用次数: 0
Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case. 伴有轻度舞蹈症的脑铁蓄积性极晚期神经变性:一个临床病理病例
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-13 DOI: 10.1002/mdc3.70032
Jussi O T Sipilä, Aki Hietaharju, Anna Maija Saukkonen, Laura Kytövuori, Liisu Balk, Valtteri Kaasinen, Tuomas Rauramaa

Background: Neurodegeneration with Brain Iron Accumulation (NBIA) rarely manifests after the age of 50 years. The phenotype in these cases is most often parkinsonism.

Objectives: To present the case with the oldest age of NBIA onset reported so far.

Methods: Clinico-pathological case.

Results: A female patient presented at 84 years of age with wobbling of the head that had started approximately 2 years ago. Choreiform movements of the head and upper body were observed and these abated when she focused on doing something else or lay down but started again when she was talking or moving. There were no cerebellar signs, abnormal reflexes or sensory disturbance. Cognitive screening tests were abnormal but significant cognitive symptoms absent. Magnetic Resonance Imaging (MRI) showed extensive iron accumulation in the basal ganglia and upper pons. Extensive analyses yielded no genetic diagnosis. She died suddenly 19 months after her first appointment. In neuropathological analysis the basal ganglia, especially the lenticular nuclei, were macroscopically darker than normal with notable iron accumulation in the arterial walls in these areas. Prominent axonal ballooning was observed especially in the internal globus pallidus. Globus pallidus displayed iron accumulation, observed to a slightly lesser extent also in the substantia nigra pars reticulata. The neuropathological phenotype resembled classical pantothenate kinase-associated neurodegeneration (PKAN). Concomitant beta-amyloid, hyperphosphorylated tau protein (consistent with primary age-related tauopathy, or PART) and TDP-43 (consistent with LATE-NC) pathologies were also evident.

Conclusions: NBIA may manifest at a very advanced age with a mild phenotype, likely influenced by coexisting neuropathology.

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引用次数: 0
The Gut-Brain Axis in Parkinson disease: Emerging Concepts and Therapeutic Implications.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-13 DOI: 10.1002/mdc3.70029
Elisa Menozzi, Anthony H V Schapira, Per Borghammer

Background: The gut-brain axis, i.e. the bidirectional communication system between the gut and the brain, has become of central importance in Parkinson disease (PD) research over the past 20 years.

Aims: We aimed to describe the milestones of the gut-brain axis research in PD and the development of theories proposing the involvement of the gastrointestinal tract in PD pathogenesis.

Methods: We searched PubMed using the terms 'gut-brain axis' AND 'Parkinson disease', and selected relevant articles to provide the foundation for reconstructing an historical overview of the gut-brain axis research in PD.

Results: Mounting evidence from preclinical, clinical and post-mortem studies suggests that a subgroup of PD patients present with a range of prodromal symptoms (e.g., autonomic dysfunction, rapid eye movement sleep behaviour disorder) which reflect initial accumulation and later spread of pathological α-synuclein rostrally from the gastrointestinal tract ("body-first" PD). Through neural connections along the gut-brain axis, pathological α-synuclein may spread to the brain, producing clinically manifest disease. Recently, two mechanisms involving the gut-brain axis have attracted increasing attention for their role in PD pathogenesis and progression, namely the perturbation of the composition of the microorganisms living in the gut (the gut microbiome), and the dysfunction of enteroendocrine cells.

Conclusion: Treatments targeting the gut-brain axis, especially the gut microbiome and the enteroendocrine cells pathway, could potentially slow disease progression or even prevent disease onset. Among these, pre/probiotics, faecal microbiota transplantation, and glucagon-like peptide-1 receptor agonists, have entered advanced stages of clinical trials in humans and shown potential symptomatic and disease-modifying effects.

{"title":"The Gut-Brain Axis in Parkinson disease: Emerging Concepts and Therapeutic Implications.","authors":"Elisa Menozzi, Anthony H V Schapira, Per Borghammer","doi":"10.1002/mdc3.70029","DOIUrl":"https://doi.org/10.1002/mdc3.70029","url":null,"abstract":"<p><strong>Background: </strong>The gut-brain axis, i.e. the bidirectional communication system between the gut and the brain, has become of central importance in Parkinson disease (PD) research over the past 20 years.</p><p><strong>Aims: </strong>We aimed to describe the milestones of the gut-brain axis research in PD and the development of theories proposing the involvement of the gastrointestinal tract in PD pathogenesis.</p><p><strong>Methods: </strong>We searched PubMed using the terms 'gut-brain axis' AND 'Parkinson disease', and selected relevant articles to provide the foundation for reconstructing an historical overview of the gut-brain axis research in PD.</p><p><strong>Results: </strong>Mounting evidence from preclinical, clinical and post-mortem studies suggests that a subgroup of PD patients present with a range of prodromal symptoms (e.g., autonomic dysfunction, rapid eye movement sleep behaviour disorder) which reflect initial accumulation and later spread of pathological α-synuclein rostrally from the gastrointestinal tract (\"body-first\" PD). Through neural connections along the gut-brain axis, pathological α-synuclein may spread to the brain, producing clinically manifest disease. Recently, two mechanisms involving the gut-brain axis have attracted increasing attention for their role in PD pathogenesis and progression, namely the perturbation of the composition of the microorganisms living in the gut (the gut microbiome), and the dysfunction of enteroendocrine cells.</p><p><strong>Conclusion: </strong>Treatments targeting the gut-brain axis, especially the gut microbiome and the enteroendocrine cells pathway, could potentially slow disease progression or even prevent disease onset. Among these, pre/probiotics, faecal microbiota transplantation, and glucagon-like peptide-1 receptor agonists, have entered advanced stages of clinical trials in humans and shown potential symptomatic and disease-modifying effects.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep Brain Stimulation Withdrawal without Relapse in Chorea-Acanthocytosis: Two Case Reports.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-11 DOI: 10.1002/mdc3.70038
Jun Ikezawa, Ayako Isoo, Fusako Yokochi, Ryoichi Okiyama, Tsutomu Kamiyama, Akihiro Yugeta, Takashi Agari, Satoko Kumada, Kazushi Takahashi
{"title":"Deep Brain Stimulation Withdrawal without Relapse in Chorea-Acanthocytosis: Two Case Reports.","authors":"Jun Ikezawa, Ayako Isoo, Fusako Yokochi, Ryoichi Okiyama, Tsutomu Kamiyama, Akihiro Yugeta, Takashi Agari, Satoko Kumada, Kazushi Takahashi","doi":"10.1002/mdc3.70038","DOIUrl":"https://doi.org/10.1002/mdc3.70038","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rhythmic Eyelid Closure Responsive to STN-DBS: Blepharoclonus, Blepharospasm, Eyelid Opening Apraxia, or Eyelid Tremor?
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-11 DOI: 10.1002/mdc3.70030
Gianfranco Gaudiano, Alexandra Boogers, Talyta Grippe, Roberto Cilia, Roberto Eleopra, Robert Chen, Alfonso Fasano
{"title":"Rhythmic Eyelid Closure Responsive to STN-DBS: Blepharoclonus, Blepharospasm, Eyelid Opening Apraxia, or Eyelid Tremor?","authors":"Gianfranco Gaudiano, Alexandra Boogers, Talyta Grippe, Roberto Cilia, Roberto Eleopra, Robert Chen, Alfonso Fasano","doi":"10.1002/mdc3.70030","DOIUrl":"https://doi.org/10.1002/mdc3.70030","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of a Social Worker in the Deep Brain Stimulation Preoperative Evaluation: The DBS-FACTS Screening Tool. 社工在脑深部刺激术前评估中的作用:DBS-FACTS 筛选工具。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-10 DOI: 10.1002/mdc3.70026
Amanda D Currie, Rachael M Burke, Alfonso Enrique Martinez Nunez, Alana McKay, Christopher W Hess, Justin D Hilliard, Michael S Okun

Background: Social workers (SW) are part of multidisciplinary teams for many surgical disciplines. Their role in deep brain stimulation (DBS) presurgical evaluations has not been defined.

Objectives: The goal was to characterize the role of SWs in a multidisciplinary DBS presurgical evaluation team and to construct a screening tool to identify patients who could benefit from a preoperative SW consultation.

Methods: A retrospective chart review was conducted on 100 consecutive patients.

Results: Ninety-seven subjects met with the SW. The median age was 68 years; 52% were female. Eight roles for the DBS SW were identified. The SW recommended follow-up for two subjects, and four additional subjects contacted the SW subsequently.

Conclusions: This study revealed how SWs could be integrated into DBS presurgical evaluations. Because most patients do not have specific SW needs, the mnemonic DBS-FACTS (finances, advance care planning, caregivers, transportation, and suicide risk) may identify patients who could benefit from SW consultation.

{"title":"The Role of a Social Worker in the Deep Brain Stimulation Preoperative Evaluation: The DBS-FACTS Screening Tool.","authors":"Amanda D Currie, Rachael M Burke, Alfonso Enrique Martinez Nunez, Alana McKay, Christopher W Hess, Justin D Hilliard, Michael S Okun","doi":"10.1002/mdc3.70026","DOIUrl":"https://doi.org/10.1002/mdc3.70026","url":null,"abstract":"<p><strong>Background: </strong>Social workers (SW) are part of multidisciplinary teams for many surgical disciplines. Their role in deep brain stimulation (DBS) presurgical evaluations has not been defined.</p><p><strong>Objectives: </strong>The goal was to characterize the role of SWs in a multidisciplinary DBS presurgical evaluation team and to construct a screening tool to identify patients who could benefit from a preoperative SW consultation.</p><p><strong>Methods: </strong>A retrospective chart review was conducted on 100 consecutive patients.</p><p><strong>Results: </strong>Ninety-seven subjects met with the SW. The median age was 68 years; 52% were female. Eight roles for the DBS SW were identified. The SW recommended follow-up for two subjects, and four additional subjects contacted the SW subsequently.</p><p><strong>Conclusions: </strong>This study revealed how SWs could be integrated into DBS presurgical evaluations. Because most patients do not have specific SW needs, the mnemonic DBS-FACTS (finances, advance care planning, caregivers, transportation, and suicide risk) may identify patients who could benefit from SW consultation.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Face Reader: Jean-Martin Charcot (1825-1893) and Facial Expressions in Progressive Supranuclear Palsy. 面部阅读:让-马丁-沙尔科(1825-1893 年)与进行性核上性麻痹的面部表情。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-10 DOI: 10.1002/mdc3.70035
Francesco Brigo
{"title":"The Face Reader: Jean-Martin Charcot (1825-1893) and Facial Expressions in Progressive Supranuclear Palsy.","authors":"Francesco Brigo","doi":"10.1002/mdc3.70035","DOIUrl":"https://doi.org/10.1002/mdc3.70035","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-10 DOI: 10.1002/mdc3.70033
Adriana P Rebelo, Adel Alawwadh, Ali Hakami, Vanja Viric, Saeed Alshahrani, Marija Brankovic, Zorica Stevic, Stephan Zuchner, Abdulaziz Al-Shehri, Stojan Peric
{"title":"FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus.","authors":"Adriana P Rebelo, Adel Alawwadh, Ali Hakami, Vanja Viric, Saeed Alshahrani, Marija Brankovic, Zorica Stevic, Stephan Zuchner, Abdulaziz Al-Shehri, Stojan Peric","doi":"10.1002/mdc3.70033","DOIUrl":"https://doi.org/10.1002/mdc3.70033","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unmasking the Unexpected: FIG4-Related Disorder Presenting with Progressive Supranuclear Palsy-Like Features.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-10 DOI: 10.1002/mdc3.70037
Émilie Retailleau, George-Junior Kahwagi, Alexandre Obadia, Manon Philibert, Nathalie Patte-Karsenti, Jean-Philippe Brandel, Clément Desjardins
{"title":"Unmasking the Unexpected: FIG4-Related Disorder Presenting with Progressive Supranuclear Palsy-Like Features.","authors":"Émilie Retailleau, George-Junior Kahwagi, Alexandre Obadia, Manon Philibert, Nathalie Patte-Karsenti, Jean-Philippe Brandel, Clément Desjardins","doi":"10.1002/mdc3.70037","DOIUrl":"https://doi.org/10.1002/mdc3.70037","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Delayed Normal Pressure Hydrocephalus after Deep Brain Stimulation in Parkinson's Disease.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-05 DOI: 10.1002/mdc3.70022
Sruthi Kola, Madhavi Karri, Sumaiya Sehrish, Syed Tazeem Fathima, Sindhuja Mohareer, Vanakuru Venkata Siva Rama Krishna Prasad, Rukmini Mridula Kandadai, Rajesh Alugolu, Ravi Varma, Rupam Borgohain

Background: Deep brain stimulation (DBS) of the bilateral subthalamic nuclei (STN) or globus pallidus internus (GPi) for Parkinson's disease (PD) and dystonia is known for its efficacy despite potential complications. Although acute complications such as intracranial hemorrhage and infections are documented, delayed occurrences like normal pressure hydrocephalus (NPH) post-DBS has not been reported so far.

Cases: We present a case series of seven PD patients (from 974) who developed NPH, an average of 10.9 + 3.1 years after DBS (6 STN, 1 GPi) with symptoms of cognitive decline and gait disturbances. Imaging confirmed hydrocephalus meeting NPH criteria (Radscale >4), which was further confirmed by the cerebrospinal fluid tap trial. Treatment with ventriculoperitoneal shunt placement showed significant symptom improvement.

Conclusion: Recognizing NPH in PD patients even after DBS is crucial for early intervention and improved outcomes.

{"title":"Delayed Normal Pressure Hydrocephalus after Deep Brain Stimulation in Parkinson's Disease.","authors":"Sruthi Kola, Madhavi Karri, Sumaiya Sehrish, Syed Tazeem Fathima, Sindhuja Mohareer, Vanakuru Venkata Siva Rama Krishna Prasad, Rukmini Mridula Kandadai, Rajesh Alugolu, Ravi Varma, Rupam Borgohain","doi":"10.1002/mdc3.70022","DOIUrl":"https://doi.org/10.1002/mdc3.70022","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation (DBS) of the bilateral subthalamic nuclei (STN) or globus pallidus internus (GPi) for Parkinson's disease (PD) and dystonia is known for its efficacy despite potential complications. Although acute complications such as intracranial hemorrhage and infections are documented, delayed occurrences like normal pressure hydrocephalus (NPH) post-DBS has not been reported so far.</p><p><strong>Cases: </strong>We present a case series of seven PD patients (from 974) who developed NPH, an average of 10.9 + 3.1 years after DBS (6 STN, 1 GPi) with symptoms of cognitive decline and gait disturbances. Imaging confirmed hydrocephalus meeting NPH criteria (Radscale >4), which was further confirmed by the cerebrospinal fluid tap trial. Treatment with ventriculoperitoneal shunt placement showed significant symptom improvement.</p><p><strong>Conclusion: </strong>Recognizing NPH in PD patients even after DBS is crucial for early intervention and improved outcomes.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Movement Disorders Clinical Practice
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