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1.
Pediatrics ; 144(5)2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31591135

RESUMO

BACKGROUND: Acute flaccid myelitis (AFM) is a neurologic condition characterized by flaccid limb weakness. After a large number of reports of AFM in 2014, the Centers for Disease Control and Prevention began standardized surveillance in the United States to characterize the disease burden and explore potential etiologies and epidemiologic associations. METHODS: Persons meeting the clinical case criteria of acute flaccid limb weakness from January 1, 2015, through December 31, 2017, were classified as confirmed (spinal cord gray matter lesions on MRI) or probable (white blood cell count >5 cells per mm3 in cerebrospinal fluid [CSF]). We describe clinical, radiologic, laboratory, and epidemiologic findings of pediatric patients (age ≤21 years) confirmed with AFM. RESULTS: Of 305 children reported from 43 states, 193 were confirmed and 25 were probable. Of confirmed patients, 61% were male, with a median age of 6 years (range: 3 months to 21 years; interquartile range: 3 to 10 years). An antecedent respiratory or febrile illness was reported in 79% with a median of 5 days (interquartile range: 2 to 7 days) before limb weakness. Among 153 sterile-site specimens (CSF and serum) submitted to the Centers for Disease Control and Prevention, coxsackievirus A16 was detected in CSF and serum of one case patient and enterovirus D68 was detected in serum of another. Of 167 nonsterile site (respiratory and stool) specimens, 28% tested positive for enterovirus or rhinovirus. CONCLUSIONS: AFM surveillance data suggest a viral etiology, including enteroviruses. Further study is ongoing to better characterize the etiology, pathogenesis, and risk factors of this rare condition.

2.
Emerg Infect Dis ; 25(9): 1676-1682, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31407660

RESUMO

Acute flaccid myelitis (AFM) is a polio-like disease that results in paralysis in previously healthy persons. Although the definitive cause of AFM remains unconfirmed, enterovirus D68 (EV-D68) is suspected based on 2014 data demonstrating an increase in AFM cases concomitant with an EV-D68 outbreak. We examined the prevalence in children and the molecular evolution of EV-D68 for 2009-2018 in Philadelphia, Pennsylvania, USA. We detected widespread EV-D68 circulation in 2009, rare detections in 2010 and 2011, and then biennial circulation, only in even years, during 2012-2018. Prevalence of EV-D68 significantly correlated with AFM cases during this period. Finally, whole-genome sequencing revealed early detection of the B1 clade in 2009 and continued evolution of the B3 clade from 2016 to 2018. These data reinforce the need to improve surveillance programs for nonpolio enterovirus to identify possible AFM triggers and predict disease prevalence to better prepare for future outbreaks.

3.
J Pediatr ; 2019 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-31402137

RESUMO

Acute flaccid myelitis (AFM) is a rare condition associated with spinal cord gray matter abnormalities and frequent persistent motor deficits in the limbs. We present our experience with the diagnosis, management, and outcomes of affected children in 2014 and 2016, emphasizing features that should trigger early consideration of AFM. Early viral testing may increase the rate of detecting associated viruses.

4.
J Psychol ; : 1-23, 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31361210

RESUMO

Bystanders represent one major avenue for reducing the incidence and severity of social exclusion, yet little research has examined behavioral measurement of bystander intervention. Utilizing the most common low risk form of exclusion, this study examined how group membership impacts college students' behavioral response to a peer's social exclusion through an Internet-based ball tossing game (N = 121). Participants played the game with three other virtual players, in which two of these players excluded the third player. Results demonstrated increased inclusive behavior towards the excluded peer across study conditions. This inclusion was strengthened when the excluded player was in the participant's in-group. Participants displayed an initial preference for in-group members, although attitudes towards all peers improved after the shared activity. Findings point to the interaction of social norms of inclusion, group membership, and changes in familiarity in determining bystander responses to social exclusion. In low-risk exclusion, group membership maintains an impact but does not provide sufficient motivation to counteract the social norm of inclusivity. The implication of bystander actions for promotion of community and future research are discussed.

5.
Artigo em Inglês | MEDLINE | ID: mdl-31120280

RESUMO

Risky choice is the tendency to choose a large, uncertain reward over a small, certain reward, and is typically measured with probability discounting, in which the probability of obtaining the large reinforcer decreases across blocks of trials. One caveat to traditional procedures is that independent schedules are used, in which subjects can show exclusive preference for one alternative relative to the other. For example, some rats show exclusive preference for the small, certain reinforcer as soon as delivery of the large reinforcer becomes probabilistic. Therefore, determining if a drug increases risk aversion (i.e., decreases responding for the probabilistic alternative) is difficult (due to floor effects). The overall goal of this experiment was to use a concurrent-chains procedure that incorporated a dependent schedule during the initial link, thus preventing animals from showing exclusive preference for one alternative relative to the other. To determine how pharmacological manipulations alter performance in this task, male Sprague-Dawley rats (n = 8) received injections of amphetamine (0, 0.25, 0.5, 1.0 mg/kg), methylphenidate (0, 0.3, 1.0, 3.0 mg/kg), and methamphetamine (0, 0.5, 1.0, 2.0 mg/kg). Amphetamine (0.25 mg/kg) and methylphenidate (3.0 mg/kg) selectively increased risky choice, whereas higher doses of amphetamine (0.5 and 1.0 kg/mg) and each dose of methamphetamine impaired stimulus control (i.e., flattened the discounting function). These results show that dependent schedules can be used to measure risk-taking behavior and that psychostimulants promote suboptimal choice when this schedule is used. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

7.
Am J Med Genet A ; 176(10): 2058-2069, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30380191

RESUMO

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

8.
MMWR Morb Mortal Wkly Rep ; 67(45): 1273-1275, 2018 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-30439867

RESUMO

In August 2018, CDC noted an increased number of reports of patients having symptoms clinically compatible with acute flaccid myelitis (AFM), a rare condition characterized by rapid onset of flaccid weakness in one or more limbs and spinal cord gray matter lesions, compared with August 2017. Since 2014, CDC has conducted surveillance for AFM using a standardized case definition (1,2). An Epi-X* notice was issued on August 23, 2018, to increase clinician awareness and provide guidance for case reporting.


Assuntos
Hipotonia Muscular/epidemiologia , Mielite/epidemiologia , Vigilância da População , Doença Aguda , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Estados Unidos/epidemiologia , Adulto Jovem
9.
Neurology ; 2018 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-30413631

RESUMO

OBJECTIVE: To determine the safety, tolerability, and efficacy of fluoxetine for proven or presumptive enterovirus (EV) D68-associated acute flaccid myelitis (AFM). METHODS: A multicenter cohort study of US patients with AFM in 2015-2016 compared serious adverse events (SAEs), adverse effects, and outcomes between fluoxetine-treated patients and untreated controls. Fluoxetine was administered at the discretion of treating providers with data gathered retrospectively. The primary outcome was change in summative limb strength score (SLSS; sum of Medical Research Council strength in all 4 limbs, ranging from 20 [normal strength] to 0 [complete quadriparesis]) between initial examination and latest follow-up, with increased SLSS reflecting improvement and decreased SLSS reflecting worsened strength. RESULTS: Fifty-six patients with AFM from 12 centers met study criteria. Among 30 patients exposed to fluoxetine, no SAEs were reported and adverse effect rates were similar to unexposed patients (47% vs 65%, p = 0.16). The 28 patients treated with >1 dose of fluoxetine were more likely to have EV-D68 identified (57.1% vs 14.3%, p < 0.001). Their SLSS was similar at initial examination (mean SLSS 12.9 vs 14.3, p = 0.31) but lower at nadir (mean SLSS 9.25 vs 12.82, p = 0.02) and latest follow-up (mean SLSS 12.5 vs 16.4, p = 0.005) compared with the 28 patients receiving 1 (n = 2) or no (n = 26) doses. In propensity-adjusted analysis, SLSS from initial examination to latest follow-up decreased by 0.2 (95% confidence interval [CI] -1.8 to +1.4) in fluoxetine-treated patients and increased by 2.5 (95% CI +0.7 to +4.4) in untreated patients (p = 0.015). CONCLUSION: Fluoxetine was well-tolerated. Fluoxetine was preferentially given to patients with AFM with EV-D68 identified and more severe paralysis at nadir, who ultimately had poorer long-term outcomes. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with EV-D68-associated AFM, fluoxetine is well-tolerated and not associated with improved neurologic outcomes.

10.
Am J Med Genet A ; 176(10): 2140-2145, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30365873

RESUMO

Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.

12.
Sci Rep ; 8(1): 12915, 2018 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-30150651

RESUMO

There are limited data on long-term outcomes of mothers or their offspring following exercise interventions during pregnancy. We assessed long-term effects of an exercise intervention (home-based stationary cycling) between 20-36 weeks of gestation on anthropometry and body composition in mothers and offspring after 1 and 7 years. 84 women were randomised to intervention or usual activity, with follow-up data available for 61 mother-child pairs (38 exercisers) at 1 year and 57 (33 exercisers) at 7 years. At 1 year, there were no observed differences in measured outcomes between mothers and offspring in the two groups. At the 7-year follow-up, mothers were mostly similar, except that exercisers had lower systolic blood pressure (-6.2 mmHg; p = 0.049). However, offspring of mothers who exercised during pregnancy had increased total body fat (+3.2%; p = 0.034) and greater abdominal (+4.1% android fat; p = 0.040) and gynoid (+3.5% gynoid fat; p = 0.042) adiposity compared with controls. Exercise interventions beginning during pregnancy may be beneficial to long-term maternal health. However, the initiation of exercise during pregnancy amongst sedentary mothers may be associated with adverse effects in the offspring during childhood. Larger follow-up studies are required to investigate long-term effects of exercise in pregnancy.

13.
Exp Clin Psychopharmacol ; 26(6): 525-540, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30035577

RESUMO

The contribution of the GluN2B subunit of the NMDA receptor to impulsivity has recently been examined. Ro 63-1908, a highly selective antagonist for the GluN2B, decreases impulsive choice. Because the order in which delays are presented modulates drug effects in discounting procedures, one goal of the current study was to determine the effects of Ro 63-1908 in delay discounting procedures in which the delays to obtaining the large reinforcer either increase or decrease across the session. We also determined if Ro 63-1908 differentially alters risky choice in probability discounting procedures that use ascending/descending schedules. Male rats were trained in either delay (n = 24) or probability (n = 24) discounting in which the delay to/odds against reinforcement were presented in either ascending or descending order (n = 12 each schedule). Following training, rats received the GluN2B antagonists Ro 63-1908 (0-1.0 mg/kg) and CP-101,606 (0-3.0 mg/kg). In delay discounting, Ro 63-1908 (1.0 mg/kg), but not CP-101,606, decreased choice for the large reinforcer, but only when the delays decreased across the session. In probability discounting, Ro 63-1908 (0.3 mg/kg)/CP-101,606 (1.0 mg/kg) increased choice for the large reinforcer when the probability of obtaining this alternative decreased across the session, but Ro 63-1908 (1.0 mg/kg)/CP-101,606 (3.0 mg/kg) decreased choice when the probabilities increased. These results show that the GluN2B is a mediator of impulsive/risky choice, but the effects of GluN2B antagonists are dependent on the order in which delays/probabilities are presented. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

14.
Am J Hum Genet ; 103(1): 125-130, 2018 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-29909962

RESUMO

Mendelian disorders of cholesterol biosynthesis typically result in multi-system clinical phenotypes, underlining the importance of cholesterol in embryogenesis and development. FDFT1 encodes for an evolutionarily conserved enzyme, squalene synthase (SS, farnesyl-pyrophosphate farnesyl-transferase 1), which catalyzes the first committed step in cholesterol biosynthesis. We report three individuals with profound developmental delay, brain abnormalities, 2-3 syndactyly of the toes, and facial dysmorphisms, resembling Smith-Lemli-Opitz syndrome, the most common cholesterol biogenesis defect. The metabolite profile in plasma and urine suggested that their defect was at the level of squalene synthase. Whole-exome sequencing was used to identify recessive disease-causing variants in FDFT1. Functional characterization of one variant demonstrated a partial splicing defect and altered promoter and/or enhancer activity, reflecting essential mechanisms for regulating cholesterol biosynthesis/uptake in steady state.

15.
Contemp Clin Trials ; 71: 80-87, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29894865

RESUMO

BACKGROUND: Osteoporosis is a prevalent and debilitating condition affecting >50% of post-menopausal women. Yet, a low percentage of women regularly engage in health promoting behaviors associated with osteoporosis prevention. Complex, multidimensional, m-Health interventions hold promise to effect engagement in health behavior change related to calcium and vitamin D intake, balance, core and leg strength, and physical activity. METHODS: Striving to be Strong study (R01NR013913-01) tests the efficacy of a research and theory based, patient centered, dynamically tailored intervention delivered via smart phone apps. Ecological Momentary Assessments (EMAs) enhance immediate feedback and complement traditional measures. The desired outcomes are the maintenance of osteoporosis self-management behaviors and a decrease in the loss of bone density over time. The Individual and Family Self-management Theory provided the conceptual foundation for the study. The sample consists of 290 healthy women between the ages of 40 and 60 with an anticipated attrition of 33%. This three group repeated measures Randomized Clinical Trial spans a 12-month time period. Data collected occurs via web site, smart-phone app, self-report, observation, and measures. Proximal (engagement in osteoporosis health behaviors) and distal (serum vitamin D, DXA, and body composition) outcomes are collected for testing of the efficacy of the intervention and theory evaluation. DISCUSSION: Active and rigorous quality management processes continually evaluate enrollment and retention goals, functionality of the automated intervention delivery and data collection systems, EMAs, and dispersion of incentives.

16.
J Med Internet Res ; 20(6): e199, 2018 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-29875089

RESUMO

BACKGROUND: Digital self-help interventions (including online or computerized programs and apps) for common mental health issues have been shown to be appealing, engaging, and efficacious in randomized controlled trials. They show potential for improving access to therapy and improving population mental health. However, their use in the real world, ie, as implemented (disseminated) outside of research settings, may differ from that reported in trials, and implementation data are seldom reported. OBJECTIVE: This study aimed to review peer-reviewed articles reporting user uptake and/or ongoing use, retention, or completion data (hereafter usage data or, for brevity, engagement) from implemented pure self-help (unguided) digital interventions for depression, anxiety, or the enhancement of mood. METHODS: We conducted a systematic search of the Scopus, Embase, MEDLINE, and PsychINFO databases for studies reporting user uptake and/or usage data from implemented digital self-help interventions for the treatment or prevention of depression or anxiety, or the enhancement of mood, from 2002 to 2017. Additionally, we screened the reference lists of included articles, citations of these articles, and the titles of articles published in Internet Interventions, Journal of Medical Internet Research (JMIR), and JMIR Mental Health since their inception. We extracted data indicating the number of registrations or downloads and usage of interventions. RESULTS: After the removal of duplicates, 970 papers were identified, of which 10 met the inclusion criteria. Hand searching identified 1 additional article. The included articles reported on 7 publicly available interventions. There was little consistency in the measures reported. The number of registrants or downloads ranged widely, from 8 to over 40,000 per month. From 21% to 88% of users engaged in at least minimal use (eg, used the intervention at least once or completed one module or assessment), whereas 7-42% engaged in moderate use (completing between 40% and 60% of modular fixed-length programs or continuing to use apps after 4 weeks). Indications of completion or sustained use (completion of all modules or the last assessment or continuing to use apps after six weeks or more) varied from 0.5% to 28.6%. CONCLUSIONS: Available data suggest that uptake and engagement vary widely among the handful of implemented digital self-help apps and programs that have reported this, and that usage may vary from that reported in trials. Implementation data should be routinely gathered and reported to facilitate improved uptake and engagement, arguably among the major challenges in digital health.

17.
J Neurol ; 265(7): 1580-1589, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29725841

RESUMO

Pelizaeus-Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities. The aim of this study was to assess the auditory abilities in 18 patients with PMD by examining the functional processes along the central auditory pathways using auditory brainstem responses (ABR) and cortical auditory evoked potentials (CAEP) in response to speech sounds. The significant ABR anomalies confirm the existence of dyssynchrony previously described at the level of the brainstem in patients with PMD. Despite the significant auditory dyssynchrony observed at the level of the brainstem, CAEPs were present in most patients, albeit somehow abnormal in terms of morphology and latency, resembling a type of auditory neuropathy spectrum disorder.


Assuntos
Doenças Auditivas Centrais/etiologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Doença de Pelizaeus-Merzbacher/complicações , Testes de Impedância Acústica , Estimulação Acústica , Adolescente , Adulto , Doenças Auditivas Centrais/diagnóstico , Doenças Auditivas Centrais/patologia , Vias Auditivas/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Emissões Otoacústicas Espontâneas , Otoscopia , Adulto Jovem
18.
Epilepsia ; 59(2): 389-402, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29315614

RESUMO

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.


Assuntos
Epilepsias Mioclônicas/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de GABA/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/complicações , Ataxia/genética , Ataxia/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Mutação , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Adulto Jovem
19.
Curr Treat Options Neurol ; 19(12): 48, 2017 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-29181601

RESUMO

PURPOSE OF REVIEW: Purpose of review Acute flaccid myelitis is a polio-like illness defined by the acute onset of flaccid paralysis in the setting spinal MRI demonstrating a longitudinal lesion in the gray matter of the cord. This paper aims to review the current state of knowledge and key clinical points for the diagnosis and management of acute flaccid myelitis. RECENT FINDINGS: Recent findings There were clusters of AFM noted in California and Colorado in 2014, with additional cases across the USA that year, and another spike in cases in 2016. Patients have been managed with classic treatments for transverse myelitis, but in general without benefit, although some colleagues have noted anecdotal improvement in individual patients. Our current practice at the Children's Hospital of Philadelphia is to initiate therapy with intravenous immunoglobulin (IVIG) upon recognition of acute flaccid myelitis in hopes of boosting humoral immunity, and to provide an emphasis on rehabilitation services, including physical and occupational therapy. There is some data that suggests a connection to the virus enterovirus D68 (EV D68), but there has been no definitive link. Publications regarding longer-term outcomes in these patients are early in development and, thus far, only provide data for 6 to 12 months from onset. Summary AFM is a serious illness with long-term consequences, and we have much to learn. Key areas in need of further investigation involve etiology, host susceptibilities, treatment options, and long-term outcome. Individual clinicians can assist in these efforts by the prompt reporting of cases of AFM to the US Centers for Disease Control and Prevention.

20.
Mult Scler Relat Disord ; 17: 198-201, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29055457

RESUMO

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease associated with a serological antibody to aquaporin-4 (AQP4) detectable in up to 80% of patients. The enzyme-linked immunosorbent assay (ELISA) is one of the most popular methods of testing for anti-AQP4 antibodies that results with a titer in which < 3 Units/ml is negative, 3-5 is borderline and 5+ is positive. The value of the positive titer in predicting long term disease course is currently unknown. METHODS: This is a retrospective analysis of NMOSD patients from five centers around the world: Baltimore, USA, Philadelphia, USA, Shanghai, China, Berlin, Germany, and Medellin, Columbia, where ELISA titers on anti-AQP4 antibody testing is available. Inclusion criteria include a diagnosis of NMOSD and seropositive anti-AQP4 antibody test with titer = /> 3 Units/ml. Patients were stratified into three groups by titer: 3-30 Units/ml (low), 31-100 Units/ml (medium), and 101+ Units/ml (high). Demographic factors such as age at onset, race, and sex were collected along with clinical features such as annualized relapse rate, duration of disease, location of relapses, and treatment history. RESULTS: A total of 139 NMOSD patients met criteria for inclusion in this study, stratified into three groups by titer: 42 subjects with low titers of 3-30 Units/ml, 30 subjects with medium titers of 31-100 Units/ml and 67 subjects with high titers of 101 or greater ELISA Units/ml. The average age at onset, sex and race distribution were not significantly different among the groups. The number of patients untreated in each group was similar (< 25%) as was the average annualized relapse rate (0.591-0.821 relapses/year). With an average of 10 years follow up, the average disability level was not different among the three titer groups (EDSS range 3.03-3.48). The distribution of lesions, as well as their preventive treatment regimens did not differ significantly. CONCLUSION: Beyond a positive/borderline/negative result, the titer of the anti-AQP4 antibody ELISA assay is not predictive in the disease course for patients with NMOSD. Low titer patients experience the same disease course as medium-titer and high-titer anti-AQP4 antibody patients with NMOSD.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/sangue , Neuromielite Óptica/sangue , Neuromielite Óptica/imunologia , Adulto , Biomarcadores/sangue , Avaliação da Deficiência , Progressão da Doença , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neuromielite Óptica/tratamento farmacológico , Estudos Retrospectivos
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