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1.
Pediatrics ; 146(2)2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32732262

RESUMO

OBJECTIVES: Acute nystagmus (AN) is an uncommon neurologic sign in children presenting to pediatric emergency departments. We described the epidemiology, clinical features, and underlying causes of AN in a large cohort of children, aiming at identifying features associated with higher risk of severe underlying urgent conditions (UCs). METHODS: Clinical records of all patients aged 0 to 18 years presenting for AN to the pediatric emergency departments of 9 Italian hospitals in an 8-year period were retrospectively reviewed. Clinical and demographic features and the underlying causes were analyzed. A logistic regression model was applied to detect predictive variables associated with a higher risk of UCs. RESULTS: A total of 206 patients with AN were included (male-to-female ratio: 1.01; mean age: 8 years 11 months). The most frequently associated symptoms were headache (43.2%) and vertigo (42.2%). Ataxia (17.5%) and strabismus (13.1%) were the most common neurologic signs. Migraine (25.7%) and vestibular disorders (14.1%) were the most common causes of AN. Idiopathic infantile nystagmus was the most common cause in infants <1 year of age. UCs accounted for 18.9% of all cases, mostly represented by brain tumors (8.3%). Accordant with the logistic model, cranial nerve deficits, ataxia, or strabismus were strongly associated with an underlying UC. Presence of vertigo or attribution of a nonurgent triage code was associated with a reduced risk of UCs. CONCLUSIONS: AN should be considered an alarming finding in children given the risk of severe UCs. Cranial nerve palsy, ataxia, and strabismus should be considered red flags during the assessment of a child with AN.


Assuntos
Nistagmo Patológico/etiologia , Ataxia/complicações , Ataxia/diagnóstico , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Infecções do Sistema Nervoso Central/complicações , Infecções do Sistema Nervoso Central/diagnóstico , Criança , Pré-Escolar , Estudos de Coortes , Doenças dos Nervos Cranianos/complicações , Doenças dos Nervos Cranianos/diagnóstico , Doenças Desmielinizantes/complicações , Doenças Desmielinizantes/diagnóstico , Tontura/etiologia , Serviço Hospitalar de Emergência , Feminino , Cefaleia/etiologia , Humanos , Hipertensão Intracraniana/complicações , Hipertensão Intracraniana/diagnóstico , Itália , Masculino , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Náusea/etiologia , Envenenamento/complicações , Envenenamento/diagnóstico , Estudos Retrospectivos , Estrabismo/etiologia , Vertigem/etiologia , Doenças Vestibulares/complicações , Doenças Vestibulares/diagnóstico , Vômito/etiologia
2.
Adv Biol Regul ; 77: 100745, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32773101

RESUMO

Coronavirus disease 2019 caused by SARS-CoV-2 originated from China and spread across every corner of the world. The scientific interest on COVID-19 increased after WHO declared it a pandemic in the early February of 2020. In fact, this pandemic has had a worldwide impact on economy, health, and lifestyle like no other in the last 100 years. SARS-CoV-2 belongs to Coronaviridae family and causes the deadliest clinical manifestations when compared to other viruses in the family. COVID-19 is an emerging zoonotic disease that has resulted in over 383,000 deaths around the world. Scientists are scrambling for ideas to develop treatment and prevention strategies to thwart the disease condition. In this review, we have attempted to summarize the latest information on the virus, disease, prevention, and treatment strategies. The future looks promising.


Assuntos
Betacoronavirus/patogenicidade , Controle de Doenças Transmissíveis/organização & administração , Infecções por Coronavirus/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Antivirais/uso terapêutico , Ataxia/diagnóstico , Ataxia/fisiopatologia , Ataxia/virologia , Controle de Doenças Transmissíveis/métodos , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/terapia , Infecções por Coronavirus/transmissão , Humanos , Hidroxicloroquina/uso terapêutico , Náusea/diagnóstico , Náusea/fisiopatologia , Náusea/virologia , Pandemias/prevenção & controle , Equipamento de Proteção Individual/provisão & distribução , Pneumonia Viral/prevenção & controle , Pneumonia Viral/terapia , Pneumonia Viral/transmissão , Quarentena/métodos , Quarentena/organização & administração , Fatores de Risco , Índice de Gravidade de Doença , Vômito/diagnóstico , Vômito/fisiopatologia , Vômito/virologia
4.
J Neurovirol ; 26(3): 324-329, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32418055

RESUMO

Coronavirus disease 2019 (COVID-19) was reported at the end of 2019 in China for the first time and has rapidly spread throughout the world as a pandemic. Since COVID-19 causes mild to severe acute respiratory syndrome, most studies in this field have only focused on different aspects of pathogenesis in the respiratory system. However, evidence suggests that COVID-19 may affect the central nervous system (CNS). Given the outbreak of COVID-19, it seems necessary to perform investigations on the possible neurological complications in patients who suffered from COVID-19. Here, we reviewed the evidence of the neuroinvasive potential of coronaviruses and discussed the possible pathogenic processes in CNS infection by COVID-19 to provide a precise insight for future studies.


Assuntos
Ataxia/epidemiologia , Edema Encefálico/epidemiologia , Infecções por Coronavirus/epidemiologia , Encefalite Viral/epidemiologia , Epilepsia/epidemiologia , Esclerose Múltipla/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Síndrome Respiratória Aguda Grave/epidemiologia , Ataxia/complicações , Ataxia/diagnóstico , Ataxia/virologia , Betacoronavirus/efeitos dos fármacos , Betacoronavirus/imunologia , Betacoronavirus/patogenicidade , Barreira Hematoencefálica/patologia , Barreira Hematoencefálica/virologia , Edema Encefálico/complicações , Edema Encefálico/diagnóstico , Edema Encefálico/virologia , Sistema Nervoso Central/patologia , Sistema Nervoso Central/virologia , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/transmissão , Encefalite Viral/complicações , Encefalite Viral/diagnóstico , Encefalite Viral/virologia , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/virologia , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/virologia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/transmissão , Prevalência , Síndrome Respiratória Aguda Grave/complicações , Síndrome Respiratória Aguda Grave/diagnóstico , Síndrome Respiratória Aguda Grave/transmissão
6.
J Med Virol ; 92(7): 699-702, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32314810

RESUMO

Neurologic sequelae can be devastating complications of respiratory viral infections. We report the presence of virus in neural and capillary endothelial cells in frontal lobe tissue obtained at postmortem examination from a patient infected with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Our observations of virus in neural tissue, in conjunction with clinical correlates of worsening neurologic symptoms, pave the way to a closer understanding of the pathogenic mechanisms underlying central nervous system involvement by SARS-CoV-2.


Assuntos
Ageusia/diagnóstico , Ataxia/diagnóstico , Betacoronavirus/patogenicidade , Infecções por Coronavirus/diagnóstico , Transtornos do Olfato/diagnóstico , Pneumonia Viral/diagnóstico , Convulsões/diagnóstico , Idoso , Ageusia/complicações , Ageusia/fisiopatologia , Ageusia/virologia , Ataxia/complicações , Ataxia/fisiopatologia , Ataxia/virologia , Betacoronavirus/genética , Técnicas de Laboratório Clínico/métodos , Infecções por Coronavirus/complicações , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/virologia , Células Endoteliais/patologia , Células Endoteliais/virologia , Evolução Fatal , Lobo Frontal/irrigação sanguínea , Lobo Frontal/patologia , Lobo Frontal/virologia , Hospitalização , Humanos , Pulmão/irrigação sanguínea , Pulmão/patologia , Pulmão/virologia , Masculino , Neurônios/patologia , Neurônios/virologia , Transtornos do Olfato/complicações , Transtornos do Olfato/fisiopatologia , Transtornos do Olfato/virologia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/fisiopatologia , Pneumonia Viral/virologia , RNA Viral/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Convulsões/complicações , Convulsões/fisiopatologia , Convulsões/virologia
7.
BMC Neurol ; 20(1): 145, 2020 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-32312236

RESUMO

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a "premutation (PM)" in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of China who presented with rare orthostatic tremor. A review of tremor of FXTAS in the literature is also included. CASE PRESENTATION: A 67-year-old right-handed farmer started with tremor of both legs 8 years ago which was present while standing but absent when sitting or lying and progressed with unsteady gait one and a half years ago. The brain MRI showed high intensity signal in the bilateral middle cerebellar peduncles (MCP) in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images and gene test for premutation for FMR1 was positive with 101 CGG repeats. The patient met the the diagnosis of definite FXTAS. Clonazepam and topiramate were administered to control tremor. We reviewed the literature and identified 64 cases with detailed clinical and genetic information. Orthostatic tremor associated with FXTAS is very rare. We found 85.2% patients reported tremor,42.6% with intention tremor,36.1% with kinetic tremor,32.8% with rest tremor and 29.5% with posture tremor. 37.7% of patients who have tremor showed at least two types of tremor. There were 6 patients with isolated rest tremor. There was 2 patient with voice tremor and 6 with head tremor. We also found that 74.6% FXTAS patients had family history of FMR1 gene associated diseases including Fragile X syndrome (FXS), FXTAS or fragile X-associated primary ovarian insufficiency (FXPOI). CONCLUSIONS: Adding our data to the available literature suggests that orthostatic tremor could be a rare initial manifestation of FXTAS and the review will increasing our understanding the phenotype of tremor in FXTAS. Family history of FMR1 gene associated diseases might be an important clue to the diagnosis.


Assuntos
Ataxia , Síndrome do Cromossomo X Frágil , Tremor , Idoso , Anticonvulsivantes/uso terapêutico , Ataxia/diagnóstico , Ataxia/tratamento farmacológico , Ataxia/genética , Ataxia/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Clonazepam/uso terapêutico , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/tratamento farmacológico , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/fisiopatologia , Humanos , Imagem por Ressonância Magnética , Masculino , Topiramato/uso terapêutico , Tremor/diagnóstico , Tremor/tratamento farmacológico , Tremor/genética , Tremor/fisiopatologia
8.
Rev Med Liege ; 75(3): 190-198, 2020 Mar.
Artigo em Francês | MEDLINE | ID: mdl-32157846

RESUMO

We discuss the diagnostic workup of a 62 year old woman without any significant past medical history. We take this opportunity to point out three aspects : 1. The necessary contextualization of the whole process allowing to avoid unrealistic differentials; 2. The requirement to prioritize the diagnostic tests as a function of their expected contribution to the diagnosis, their invasive characteristic and their availability, including their cost and 3. The evolving character of the diagnostic process that, if needed, has to be reconsidered to integrate the information obtained from the first diagnostic tests and the evolution of the patient.


Assuntos
Acidentes por Quedas , Ataxia , Ataxia/diagnóstico , Ataxia/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade
10.
Clin Interv Aging ; 15: 285-292, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32161452

RESUMO

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer's disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases.


Assuntos
Doença de Alzheimer/complicações , Doença de Alzheimer/metabolismo , Ataxia/diagnóstico , Ataxia/metabolismo , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/metabolismo , Tremor/diagnóstico , Tremor/metabolismo , Idoso , Ataxia/complicações , Proteína do X Frágil de Retardo Mental/metabolismo , Síndrome do Cromossomo X Frágil/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Tremor/complicações
12.
PLoS One ; 15(2): e0225191, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32053612

RESUMO

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that is characterized by tremor, cerebellar ataxia, frequent falls, cognitive decline, and progressive loss of motor function. There are currently no approved treatments for this disorder. The purpose of this study was to determine if citicoline was safe for the treatment of tremor and balance abnormalities and to stabilize cognitive decline in patients with FXTAS. Ten participants with diagnosed FXTAS were administered 1000 mg of citicoline once daily for 12 months. Outcome measures and neurological examination were performed at baseline, 3 months, 6 months, and 12 months. The primary outcome was the FXTAS Rating Scale score. Secondary outcomes included change in a battery of neuropsychological tests, an instrumented Timed up and go test, computerized dynamic posturography, 9-hole pegboard test, and balance confidence and psychiatric symptom questionnaires. Safety was also evaluated. Citicoline treatment resulted in minimal adverse events in all but one subject over the course of the study. There was a significant improvement in the Beck Anxiety Inventory (p = 0.03) and the Stroop Color-Word test (p = 0.03), with all other measures remaining stable over the course of 12 months. This open-label pilot trial of citicoline for individuals with FXTAS showed that it is safe and well tolerated in this population. Registration: This trial was registered at ClinicalTrials.gov. Identifier: NCT0219710.


Assuntos
Ataxia/tratamento farmacológico , Citidina Difosfato Colina/administração & dosagem , Síndrome do Cromossomo X Frágil/tratamento farmacológico , Nootrópicos/administração & dosagem , Tremor/tratamento farmacológico , Idoso , Ataxia/diagnóstico , Cognição/efeitos dos fármacos , Citidina Difosfato Colina/efeitos adversos , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora/efeitos dos fármacos , Testes Neuropsicológicos , Nootrópicos/efeitos adversos , Projetos Piloto , Equilíbrio Postural/efeitos dos fármacos , Índice de Gravidade de Doença , Fatores de Tempo , Estudos de Tempo e Movimento , Resultado do Tratamento , Tremor/diagnóstico
13.
Dev Med Child Neurol ; 62(1): 75-82, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31529709

RESUMO

AIMS: To investigate the accuracy of phenotypic early-onset ataxia (EOA) recognition among developmental conditions, including developmental coordination disorder (DCD) and hypotonia of central nervous system origin, and the effect of scientifically validated EOA features on changing phenotypic consensus. METHOD: We included 32 children (4-17y) diagnosed with EOA (n=11), DCD (n=10), and central hypotonia (n=11). Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). We determined: (1) phenotypic interobserver agreement and phenotypic homogeneity (percentage of phenotypes with full consensus by all three observers according to the underlying diagnosis); (2) SARA (sub)score profiles; and (3) the effect of three scientifically validated EOA features on phenotypic consensus. RESULTS: Phenotypic homogeneity occurred in 8 out of 11, 2 out of 10, and 1 out of 11 patients with EOA, DCD, and central hypotonia respectively. Homogeneous phenotypic discrimination of EOA from DCD and central hypotonia occurred in 16 out of 21 and 22 out of 22 patients respectively. Inhomogeneously discriminated EOA and DCD phenotypes (5 out of 21) revealed overlapping SARA scores with different SARA subscore profiles. After phenotypic reassessment with scientifically validated EOA features, phenotypic homogeneity changed from 16 to 18 patients. INTERPRETATION: In contrast to complete distinction between EOA and central hypotonia, the paediatric motor phenotype did not reliably distinguish between EOA and DCD. Reassessment with scientifically validated EOA features could contribute to a higher phenotypic consensus. Early-onset ataxia (EOA) and central hypotonia motor phenotypes were reliably distinguished. EOA and developmental coordination disorder (DCD) motor phenotypes were not reliably distinguished. The EOA and DCD phenotypes have different profiles of the Scale for Assessment and Rating of Ataxia.


Assuntos
Ataxia/fisiopatologia , Transtornos das Habilidades Motoras/fisiopatologia , Hipotonia Muscular/fisiopatologia , Adolescente , Idade de Início , Ataxia/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Transtornos das Habilidades Motoras/diagnóstico , Hipotonia Muscular/diagnóstico , Fenótipo
14.
Gait Posture ; 75: 121-128, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31675554

RESUMO

BACKGROUND: Returning to community walking remains a major challenge for persons with incomplete spinal cord injury (iSCI) due, in part, to impaired interlimb coordination. Here, we examined spatial and temporal features of interlimb coordination during walking and their associations to gait deficits in persons with chronic iSCI. RESEARCH QUESTION: Do deficits in spatial and temporal interlimb coordination correspond differentially to clinical indicators of walking performance in persons with iSCI? METHODS: Sixteen persons with chronic iSCI and eleven able-bodied individuals participated in this study. Participants walked at self-selected gait speeds along an instrumented walkway that recorded left and right step lengths and times. We quantified interlimb coordination in terms of normalized differences between left and right step lengths (spatial asymmetry index) and step times (temporal asymmetry index), as well as, gap and phase coordination indices. We then assessed the extent to which these indices independently associated with clinical measures of walking performance. RESULTS: Participants with iSCI demonstrated greater spatial and temporal asymmetry, as well as, reduced gap and phase interlimb coordination as compared to age-matched controls (p < 0.001). We found no linear relationships between spatial and temporal asymmetry indices (p > 0.05) or between gap and phase coordination indices (p > 0.05). Spatial and temporal asymmetry indices weakly correlated with SCI-FAI composite scores (r2 = 0.26; p = 0.04). However, only spatial asymmetry indices strongly correlated with slower walking speed (r2 = 0.51; p < 0.002). We also found participants who used a hand-held assistive device (walker) demonstrated great spatial asymmetry as compared to those who did not (p < 0.03). SIGNIFICANCE: Differential impairments in spatial and temporal interlimb coordination correspond to overground walking deficits in persons with chronic iSCI. Spatial asymmetry associated with decreased walking speed and increased reliance on hand-held assistive devices. Gait training methods that target well-defined space and time domains of interlimb coordination may enhance overground gait training in persons with iSCI.


Assuntos
Ataxia/etiologia , Traumatismos da Medula Espinal/fisiopatologia , Caminhada/fisiologia , Adulto , Ataxia/diagnóstico , Ataxia/fisiopatologia , Estudos de Casos e Controles , Feminino , Marcha/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Análise Espaço-Temporal , Análise e Desempenho de Tarefas , Adulto Jovem
15.
Mol Genet Metab ; 129(2): 47-58, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31711734

RESUMO

Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. Here we report the clinical, biochemical and molecular analysis of five patients with sialidosis type I. Two patients presented novel NEU1 mutations. One of these patients was compound heterozygous for two novel NEU1 missense mutations: c.530A>T (p.Asp177Val) and c.1010A>G (p.His337Arg), whereas a second patient was compound heterozygous for a known mutation and a novel c.839G>A (p.Arg280Gln) mutation. We discuss the impact of these new mutations on the structural properties of NEU1. We also review available clinical reports of patients with sialidosis type I, with the aim of identifying the most frequent initial clinical manifestations and achieving more focused diagnoses.


Assuntos
Ataxia/diagnóstico , Mucolipidoses/diagnóstico , Mucolipidoses/genética , Mioclonia/diagnóstico , Neuraminidase/genética , Adolescente , Adulto , Criança , Diagnóstico Diferencial , Feminino , Humanos , Lisossomos/patologia , Mutação de Sentido Incorreto , Fenótipo , Adulto Jovem
16.
J R Coll Physicians Edinb ; 49(4): 304-306, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31808458

RESUMO

Miller Fischer syndrome (MFS) is a variant of Guillain-Barré syndrome first described in 1956 and is characterised by the clinical triad of ophthalmoplegia, ataxia and areflexia. However, since its discovery, forme fruste and overlapping syndrome have been described. A forme fruste of MFS implies an attenuated form where not all of the clinical triad are present. In this report, a case of MFS is highlighted that was mistakenly treated as posterior circulation stroke, as well as the challenges faced in reaching the correct diagnosis and hence the appropriate treatment.


Assuntos
Ataxia/etiologia , Imunoglobulinas Intravenosas/administração & dosagem , Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/etiologia , Reflexo Anormal , Adulto , Ataxia/diagnóstico , Seguimentos , Humanos , Masculino , Síndrome de Miller Fisher/tratamento farmacológico , Oftalmoplegia/diagnóstico , Doenças Raras , Recuperação de Função Fisiológica
17.
Am J Gastroenterol ; 114(11): 1772-1777, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31592781

RESUMO

OBJECTIVES: The impact of opioids on anorectal function is poorly understood but potentially relevant to the pathogenesis of opioid-induced constipation (OIC). To evaluate anorectal function testing (AFT) characteristics, symptom burden, and quality of life in chronically constipated patients prescribed an opioid (OIC) in comparison with constipated patients who are not on an opioid (NOIC). METHODS: Retrospective analysis of prospectively collected data on 3,452 (OIC = 588 and NOIC = 2,864) chronically constipated patients (Rome 3) who completed AFT. AFT variables included anal sphincter pressure and response during simulated defecation, balloon expulsion test (BET), and rectal sensation. Dyssynergic defecation (DD) was defined as an inability to relax the anal sphincter during simulated defecation and an abnormal BET. Patients completed Patient Assessment of Constipation Symptoms (PAC-SYM) and Patient Assessment of Constipation Quality of Life (PAC-QOL) questionnaires. RESULTS: The mean age of the study cohort was 49 years. Most patients were women (82%) and whites (83%). Patients with OIC were older than NOIC patients (50.7 vs 48.3, P = 0.001). OIC patients were significantly more likely to have DD (28.6% vs 21.4%, P < 0.001), an abnormal simulated defecation response on anorectal manometry (59% vs 43.8%, P < 0.001), and an abnormal BET (48% vs 42.5%, P = 0.02) than NOIC patients. OIC patients reported more severe constipation symptoms (P < 0.02) and worse quality of life (P < 0.05) than NOIC patients. DISCUSSION: Chronically constipated patients who use opioids are more likely to have DD and more severe constipation symptoms than NOIC.


Assuntos
Analgésicos Opioides/efeitos adversos , Ataxia , Doenças Funcionais do Colo , Constipação Intestinal , Qualidade de Vida , Doenças Retais , Ataxia/induzido quimicamente , Ataxia/diagnóstico , Ataxia/fisiopatologia , Doença Crônica , Doenças Funcionais do Colo/induzido quimicamente , Doenças Funcionais do Colo/diagnóstico , Doenças Funcionais do Colo/fisiopatologia , Constipação Intestinal/diagnóstico , Constipação Intestinal/etiologia , Constipação Intestinal/fisiopatologia , Constipação Intestinal/psicologia , Efeitos Psicossociais da Doença , Defecação , Feminino , Humanos , Masculino , Manometria/métodos , Pessoa de Meia-Idade , Doenças Retais/induzido quimicamente , Doenças Retais/diagnóstico , Doenças Retais/fisiopatologia , Índice de Gravidade de Doença
18.
J Athl Train ; 54(10): 1105-1114, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31633418

RESUMO

CONTEXT: Early sport specialization, or the participation in 1 sport year-round to the exclusion of all others, is a growing concern in youth athletics because of its possible association with musculoskeletal injury. The underlying injury risk may be the result of coordination differences that sport-specialized athletes have been speculated to exhibit relative to multisport athletes; however, little evidence exists to support or refute this notion. OBJECTIVE: To examine relative hip- and knee-joint angular-motion variability among adolescent sport-specialized and multisport female adolescent athletes to determine how sport specialization may affect coordination. DESIGN: Cohort study. SETTING: Research laboratory. PATIENTS OR OTHER PARTICIPANTS: A total of 366 sport-specialized and 366 multisport adolescent female basketball, soccer, and volleyball players. INTERVENTION(S): Drop-vertical-jump (DVJ) assessment. MAIN OUTCOME MEASURE(S): Average coupling-angle variability (CAV) for hip flexion and knee flexion, knee flexion and ankle flexion, hip flexion and knee abduction, knee flexion and knee abduction, knee flexion and knee internal rotation, and knee abduction and knee internal rotation. RESULTS: The sport-specialized group exhibited increased coupling variability in dominant-limb hip flexion and knee flexion (P = .015), knee flexion and knee abduction (P = .014), and knee flexion and knee internal rotation (P = .048) while landing during the DVJ, although they had small effect sizes (η2 = 0.010, 0.010, and 0.007, respectively). No differences were present between groups for any of the other CAV measures of the dominant limb, and no differences were found for any CAV measures of the nondominant limb (all P values > .05). CONCLUSIONS: Sport specialization was associated with increased variability of critical hip- and knee-joint couplings responsible for effective landing during the DVJ. Altered coordination strategies that involve the hip and knee joints may underlie unstable landings, inefficient force-absorption strategies, or greater contact forces that can place the lower extremities at risk for injury (or a combination of these).


Assuntos
Ataxia , Traumatismos em Atletas , Basquetebol/lesões , Futebol/lesões , Especialização , Voleibol/lesões , Adolescente , Ataxia/complicações , Ataxia/diagnóstico , Ataxia/etiologia , Traumatismos em Atletas/etiologia , Traumatismos em Atletas/prevenção & controle , Fenômenos Biomecânicos , Estudos de Coortes , Feminino , Articulação do Quadril/fisiopatologia , Humanos , Articulação do Joelho/fisiopatologia , Masculino , Medição de Risco , Fatores de Risco , Estados Unidos , Adulto Jovem , Esportes Juvenis/lesões
19.
Rinsho Shinkeigaku ; 59(11): 730-735, 2019 Nov 08.
Artigo em Japonês | MEDLINE | ID: mdl-31656263

RESUMO

[Background] Supranuclear extraorbital muscle palsy is the core feature of progressive supranuclear palsy (PSP), and ordinarily presents as spontaneous vertical gaze constriction. However, higher visual function associated with visuospatial cognition in PSP patients was not previously considered. [Case presentation] We present a 72-year old right-handed man with PSP- Richardson syndrome (PSP-RS) and abnormal higher visual function. His symptoms began 2 years previously and included the use of small steps while walking, forgetfulness, and postural instability. Neurological examination revealed supranuclear vertical gaze limitation, akinesia, and lead-pipe rigidity without laterality. Neuro-ophthalmological examination showed abnormal ocular movement consistent with PSP, and no visual abnormality was observed. General cognitive functions, including attention and prominent visuospatial orientation and visual attention disturbances, were assessed using neuropsychological tests and concomitant spatial agraphia and impaired configuration using figure copying. Although he presented with mildly decreased and monotonous speech with palilalia, he showed no apparent aphasia, apraxia, visual object agnosia, or Bálint's 'optische Ataxie' i.e. visual ataxia under fixation. Brain MRI revealed atrophy of the mesencephalic tegmentum, bilateral frontal lobe, and bilateral hippocampus. N-isopropyl-p-(iodine-123)-iodoamphetamine single photon emission computed tomography revealed decreased cerebral blood flow in the bilateral frontal lobe, lateral temporal lobe, and basal ganglia. Dopamine transporter single photon emission CT revealed uptake attenuation in the bilateral striatum. 123I-metaiodobenzyl-guanidine myocardium scintigraphy results were normal. [Discussion] The patient's symptoms indicated classical PSP-RS accompanied with a combination of disturbances in spatial orientation and visual attention as noted by Holmes and Horrax and 'ataxie optique' by Garcin. Thus, as observed in this patient, many clinically diagnosed PSP patients with undiagnosed higher visual dysfunction, masked by limited eye movement may exist. These symptoms may further our understanding about posterior cortical atrophy and tauopathy including not only PSP but also corticobasal syndrome and Alzheimer disease.


Assuntos
Agnosia/etiologia , Ataxia/etiologia , Atenção , Transtornos da Percepção/etiologia , Transtornos Psicofisiológicos/etiologia , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/diagnóstico , Transtornos da Visão/etiologia , Percepção Visual , Idoso , Agnosia/diagnóstico , Ataxia/diagnóstico , Humanos , Masculino , Transtornos da Percepção/diagnóstico , Transtornos Psicofisiológicos/diagnóstico , Transtornos da Visão/diagnóstico
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