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1.
Anaesthesia ; 77(4): 389-397, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35226768

RESUMEN

Since the start of the COVID-19 pandemic, few studies have reported anaesthetic outcomes in parturients with SARS-CoV-2 infection. We reviewed the labour analgesic and anaesthetic interventions utilised in symptomatic and asymptomatic parturients who had a confirmed positive test for SARS-CoV-2 across 10 hospitals in the north-west of England between 1 April 2020 and 31 May 2021. Primary outcomes analysed included the analgesic/anaesthetic technique utilised for labour and caesarean birth. Secondary outcomes included a comparison of maternal characteristics, caesarean birth rate, maternal critical care admission rate along with adverse composite neonatal outcomes. A positive SARS-CoV-2 test was recorded in 836 parturients with 263 (31.4%) reported to have symptoms of COVID-19. Neuraxial labour analgesia was utilised in 104 (20.4%) of the 509 parturients who went on to have a vaginal birth. No differences in epidural analgesia rates were observed between symptomatic and asymptomatic parturients (OR 1.03, 95%CI 0.64-1.67; p = 0.90). The neuraxial anaesthesia rate in 310 parturients who underwent caesarean delivery was 94.2% (95%CI 90.6-96.0%). The rates of general anaesthesia were similar in symptomatic and asymptomatic parturients (6% vs. 5.7%; p = 0.52). Symptomatic parturients were more likely to be multiparous (OR 1.64, 95%CI 1.19-2.22; p = 0.002); of Asian ethnicity (OR 1.54, 1.04-2.28; p = 0.03); to deliver prematurely (OR 2.16, 95%CI 1.47-3.19; p = 0.001); have a higher caesarean birth rate (44.5% vs. 33.7%; OR 1.57, 95%CI 1.16-2.12; p = 0.008); and a higher critical care utilisation rate both pre- (8% vs. 0%, p = 0.001) and post-delivery (11% vs. 3.5%; OR 3.43, 95%CI 1.83-6.52; p = 0.001). Eight neonates tested positive for SARS-CoV-2 while no differences in adverse composite neonatal outcomes were observed between those born to symptomatic and asymptomatic mothers (25.8% vs. 23.8%; OR 1.11, 95%CI 0.78-1.57; p = 0.55). In women with COVID-19, non-neuraxial analgesic regimens were commonly utilised for labour while neuraxial anaesthesia was employed for the majority of caesarean births. Symptomatic women with COVID-19 are at increased risk of significant maternal morbidity including preterm birth, caesarean birth and peripartum critical care admission.


Asunto(s)
Analgesia Obstétrica , COVID-19 , Trabajo de Parto , Nacimiento Prematuro , Analgesia Obstétrica/métodos , Anestesia General , Femenino , Humanos , Recién Nacido , Pandemias , Embarazo , Nacimiento Prematuro/epidemiología , Estudios Retrospectivos , SARS-CoV-2
2.
BJOG ; 128(9): 1534-1545, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33969614

RESUMEN

OBJECTIVE: To assess the cost-effectiveness of mifepristone and misoprostol (MifeMiso) compared with misoprostol only for the medical management of a missed miscarriage. DESIGN: Within-trial economic evaluation and model-based analysis to set the findings in the context of the wider economic evidence for a range of comparators. Incremental costs and outcomes were calculated using nonparametric bootstrapping and reported using cost-effectiveness acceptability curves. Analyses were performed from the perspective of the UK's National Health Service (NHS). SETTING: Twenty-eight UK NHS early pregnancy units. SAMPLE: A cohort of 711 women aged 16-39 years with ultrasound evidence of a missed miscarriage. METHODS: Treatment with mifepristone and misoprostol or with matched placebo and misoprostol tablets. MAIN OUTCOME MEASURES: Cost per additional successfully managed miscarriage and quality-adjusted life years (QALYs). RESULTS: For the within-trial analysis, MifeMiso intervention resulted in an absolute effect difference of 6.6% (95% CI 0.7-12.5%) per successfully managed miscarriage and a QALYs difference of 0.04% (95% CI -0.01 to 0.1%). The average cost per successfully managed miscarriage was lower in the MifeMiso arm than in the placebo and misoprostol arm, with a cost saving of £182 (95% CI £26-£338). Hence, the MifeMiso intervention dominated the use of misoprostol alone. The model-based analysis showed that the MifeMiso intervention is preferable, compared with expectant management, and this is the current medical management strategy. However, the model-based evidence suggests that the intervention is a less effective but less costly strategy than surgical management. CONCLUSIONS: The within-trial analysis found that based on cost-effectiveness grounds, the MifeMiso intervention is likely to be recommended by decision makers for the medical management of women presenting with a missed miscarriage. TWEETABLE ABSTRACT: The combination of mifepristone and misoprostol is more effective and less costly than misoprostol alone for the management of missed miscarriages.


Asunto(s)
Abortivos/administración & dosificación , Aborto Retenido/tratamiento farmacológico , Mifepristona/administración & dosificación , Misoprostol/administración & dosificación , Abortivos/economía , Aborto Retenido/economía , Adolescente , Adulto , Análisis Costo-Beneficio , Método Doble Ciego , Quimioterapia Combinada , Femenino , Humanos , Mifepristona/economía , Misoprostol/economía , Embarazo , Adulto Joven
3.
Anaesthesia ; 76(3): 312-319, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33073371

RESUMEN

At the onset of the global pandemic of COVID-19 (SARS-CoV-2), guidelines recommended using regional anaesthesia for caesarean section in preference to general anaesthesia. National figures from the UK suggest that 8.75% of over 170,000 caesarean sections are performed under general anaesthetic. We explored whether general anaesthesia rates for caesarean section changed during the peak of the pandemic across six maternity units in the north-west of England. We analysed anaesthetic information for 2480 caesarean sections across six maternity units from 1 April to 1 July 2020 (during the pandemic) and compared this information with data from 2555 caesarean sections performed at the same hospitals over a similar period in 2019. Primary outcome was change in general anaesthesia rate for caesarean section. Secondary outcomes included overall caesarean section rates, obstetric indications for caesarean section and regional to general anaesthesia conversion rates. A significant reduction (7.7 to 3.7%, p < 0.0001) in general anaesthetic rates, risk ratio (95%CI) 0.50 (0.39-0.93), was noted across hospitals during the pandemic. Regional to general anaesthesia conversion rates reduced (1.7 to 0.8%, p = 0.012), risk ratio (95%CI) 0.50 (0.29-0.86). Obstetric indications for caesarean sections did not change (p = 0.17) while the overall caesarean section rate increased (28.3 to 29.7%), risk ratio (95%CI) 1.02 (1.00-1.04), p = 0.052. Our analysis shows that general anaesthesia rates for caesarean section declined during the peak of the pandemic. Anaesthetic decision-making, recommendations from anaesthetic guidelines and presence of an on-site anaesthetic consultant in the delivery suite seem to be the key factors that influenced this decline.


Asunto(s)
Anestesia General/estadística & datos numéricos , Anestesia Obstétrica/estadística & datos numéricos , COVID-19/epidemiología , Cesárea/estadística & datos numéricos , Estudios Transversales , Inglaterra/epidemiología , Femenino , Humanos , Embarazo , Estudios Retrospectivos , SARS-CoV-2
4.
Anaesthesia ; 76(8): 1051-1059, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33891311

RESUMEN

General anaesthesia is known to achieve the shortest decision-to-delivery interval for category-1 caesarean section. We investigated whether the COVID-19 pandemic affected the decision-to delivery interval and influenced neonatal outcomes in patients who underwent category-1 caesarean section. Records of 562 patients who underwent emergency caesarean section between 1 April 2019 and 1 July 2019 in seven UK hospitals (pre-COVID-19 group) were compared with 577 emergency caesarean sections performed during the same period during the COVID-19 pandemic (1 April 2020-1 July 2020) (post-COVID-19 group). Primary outcome measures were: decision-to-delivery interval; number of caesarean sections achieving decision-to-delivery interval < 30 min; and a composite of adverse neonatal outcomes (Apgar 5-min score < 7, umbilical arterial pH < 7.10, neonatal intensive care unit admission and stillbirth). The use of general anaesthesia decreased significantly between the pre- and post-COVID-19 groups (risk ratio 0.48 (95%CI 0.37-0.62); p < 0.0001). Compared with the pre-COVID-19 group, the post-COVID-19 group had an increase in median (IQR [range]) decision-to-delivery interval (26 (18-32 [4-124]) min vs. 27 (20-33 [3-102]) min; p = 0.043) and a decrease in the number of caesarean sections meeting the decision-to-delivery interval target of < 30 min (374/562 (66.5%) vs. 349/577 (60.5%); p = 0.02). The incidence of adverse neonatal outcomes was similar in the pre- and post-COVID-19 groups (140/568 (24.6%) vs. 140/583 (24.0%), respectively; p = 0.85). The small increase in decision-to-delivery interval observed during the COVID-19 pandemic did not adversely affect neonatal outcomes.


Asunto(s)
Anestesia General/estadística & datos numéricos , COVID-19 , Cesárea/estadística & datos numéricos , Toma de Decisiones Clínicas , Resultado del Embarazo , Adolescente , Adulto , Puntaje de Apgar , Femenino , Humanos , Recién Nacido , Persona de Mediana Edad , Embarazo , Estudios Retrospectivos , SARS-CoV-2 , Factores de Tiempo , Reino Unido , Adulto Joven
5.
Eur J Neurol ; 27(8): 1471-1477, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32212350

RESUMEN

BACKGROUND AND PURPOSE: Despite recent advances in neurogenetics that have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. The aim of the study was to identify the cause of autosomal dominant tremulous myoclonus-dystonia in a UK kindred with affected individuals in three generations. METHODS: Known genetic causes of myoclonus-dystonia were excluded. We combined clinical and electrophysiological phenotyping with whole-exome sequencing and Sanger sequencing to identify candidate causal variants in a family with tremulous myoclonus-dystonia. RESULTS: The core phenotype consisted of childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. We identified a novel missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) [NM_021614:c.1112G>A:p.(Gly371Glu)], which was the only variant that we were able to identify as segregating with the phenotype over three generations. This variant, which is absent from the most recent version of gnomAD, was predicted to be deleterious by SIFT and PolyPhen-2 and had an overall CADD score of 29.7. CONCLUSIONS: KCNN2, a member of the KCNN family of potassium channel genes, is highly conserved across species and in humans is highly expressed in the brain, particularly the cerebellum. KCNN2 mutations have never been described as pathological in human disease, but are recognized abnormalities in two rodent models of fast, jerky tremor. Segregation, absence of the variant in the normal population and in-silico prediction of a deleterious effect together with animal models compatible with the clinical phenotype are all in line with KCNN2 mutations being a plausible cause underlying myoclonus-dystonia.


Asunto(s)
Distonía , Trastornos Distónicos , Mioclonía , Canales de Potasio de Pequeña Conductancia Activados por el Calcio/genética , Animales , Niño , Trastornos Distónicos/genética , Humanos , Mutación , Fenotipo , Temblor
6.
BJOG ; 127(6): 757-767, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32003141

RESUMEN

OBJECTIVES: To assess the cost-effectiveness of progesterone compared with placebo in preventing pregnancy loss in women with early pregnancy vaginal bleeding. DESIGN: Economic evaluation alongside a large multi-centre randomised placebo-controlled trial. SETTING: Forty-eight UK NHS early pregnancy units. POPULATION: Four thousand one hundred and fifty-three women aged 16-39 years with bleeding in early pregnancy and ultrasound evidence of an intrauterine sac. METHODS: An incremental cost-effectiveness analysis was performed from National Health Service (NHS) and NHS and Personal Social Services perspectives. Subgroup analyses were carried out on women with one or more and three or more previous miscarriages. MAIN OUTCOME MEASURES: Cost per additional live birth at ≥34 weeks of gestation. RESULTS: Progesterone intervention led to an effect difference of 0.022 (95% CI -0.004 to 0.050) in the trial. The mean cost per woman in the progesterone group was £76 (95% CI -£559 to £711) more than the mean cost in the placebo group. The incremental cost-effectiveness ratio for progesterone compared with placebo was £3305 per additional live birth. For women with at least one previous miscarriage, progesterone was more effective than placebo with an effect difference of 0.055 (95% CI 0.014-0.096) and this was associated with a cost saving of £322 (95% CI -£1318 to £673). CONCLUSIONS: The results suggest that progesterone is associated with a small positive impact and a small additional cost. Both subgroup analyses were more favourable, especially for women who had one or more previous miscarriages. Given available evidence, progesterone is likely to be a cost-effective intervention, particularly for women with previous miscarriage(s). TWEETABLE ABSTRACT: Progesterone treatment is likely to be cost-effective in women with early pregnancy bleeding and a history of miscarriage.


Asunto(s)
Aborto Espontáneo/economía , Aborto Espontáneo/prevención & control , Progesterona/economía , Progestinas/economía , Hemorragia Uterina/tratamiento farmacológico , Aborto Espontáneo/etiología , Adolescente , Adulto , Análisis Costo-Beneficio , Método Doble Ciego , Femenino , Humanos , Nacimiento Vivo/economía , Embarazo , Progesterona/uso terapéutico , Progestinas/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto , Medicina Estatal , Resultado del Tratamiento , Reino Unido , Hemorragia Uterina/complicaciones , Hemorragia Uterina/economía , Adulto Joven
7.
Clin Radiol ; 75(10): 721-729, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32499121

RESUMEN

Idiopathic spinal cord herniation is a rare but important and increasingly recognised cause of myelopathy seen in the thoracic spine. The factors that contribute to the aetiology of the condition and of the dural defect through which the cord herniates remain under debate. We discuss the clinical features and proposed pathophysiology of the condition, and illustrate key imaging findings on MRI, fluoroscopy and computed tomography (CT) myelography to establish the diagnosis, and discuss relevant differential diagnoses. Awareness and recognition of the condition is key as surgical intervention can improve outcomes for patients.


Asunto(s)
Hernia/diagnóstico por imagen , Enfermedades de la Médula Espinal/diagnóstico por imagen , Vértebras Torácicas/diagnóstico por imagen , Diagnóstico Diferencial , Progresión de la Enfermedad , Hernia/fisiopatología , Herniorrafia/métodos , Humanos , Enfermedades de la Médula Espinal/fisiopatología , Enfermedades de la Médula Espinal/cirugía , Vértebras Torácicas/fisiopatología , Vértebras Torácicas/cirugía
8.
Ann Oncol ; 30(6): 977-982, 2019 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-30912815

RESUMEN

BACKGROUND: Early-stage nasopharyngeal carcinoma (NPC) evades detection when the primary tumor is hidden from view on endoscopic examination. Therefore, in a prospective study of subjects being screened for NPC using plasma Epstein-Barr virus (EBV) DNA, we conducted a study to investigate whether magnetic resonance imaging (MRI) could detect endoscopically occult NPC. PATIENTS AND METHODS: Participants with persistently positive EBV DNA underwent endoscopic examination and biopsy when suspicious for NPC, followed by MRI blinded to the endoscopic findings. Participants with a negative endoscopic examination and positive MRI were recalled for biopsy or surveillance. Diagnostic performance was assessed by calculating sensitivity, specificity and accuracy, based on the histologic confirmation of NPC in the initial study or in a follow-up period of at least two years. RESULTS: Endoscopic examination and MRI were performed on 275 participants, 34 had NPC, 2 had other cancers and 239 without cancer were followed-up for a median of 36 months (24-60 months). Sensitivity, specificity and accuracy were 76.5%, 97.5% and 94.9%, respectively, for endoscopic examination and 91.2%, 97.5% and 96.7%, respectively, for MRI. NPC was detected only by endoscopic examination in 1/34 (2.9%) participants (a participant with stage I disease), and only by MRI in 6/34 (17.6%) participants (stage I = 4, II = 1, III = 1), two of whom had stage I disease and follow-up showing slow growth on MRI but no change on endoscopic examination for 36 months. CONCLUSION: MRI has a complementary role to play in NPC detection and can enable the earlier detection of endoscopically occult NPC.


Asunto(s)
Infecciones por Virus de Epstein-Barr/diagnóstico , Carcinoma Nasofaríngeo/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Adulto , ADN Viral/sangre , ADN Viral/genética , Detección Precoz del Cáncer/métodos , Endoscopía/métodos , Infecciones por Virus de Epstein-Barr/sangre , Infecciones por Virus de Epstein-Barr/patología , Infecciones por Virus de Epstein-Barr/virología , Estudios de Seguimiento , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Carcinoma Nasofaríngeo/diagnóstico por imagen , Carcinoma Nasofaríngeo/cirugía , Carcinoma Nasofaríngeo/virología , Neoplasias Nasofaríngeas/diagnóstico por imagen , Neoplasias Nasofaríngeas/cirugía , Neoplasias Nasofaríngeas/virología , Pronóstico , Estudios Prospectivos , Carga Viral
9.
Trop Med Int Health ; 24(5): 571-585, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30843638

RESUMEN

OBJECTIVES: Northern Tanzania experiences significant malaria-related morbidity and mortality, but accurate data are scarce. We update the data on patterns of low-grade Plasmodium falciparum malaria infection among children in northern Tanzania. METHODS: Plasmodium falciparum malaria prevalence (pfPR) was assessed in a representative sample of 819 children enrolled in 94 villages in northern Tanzania between October 2015 and August 2016, using a complex survey design. Individual- and household-level risk factors for pfPR were elicited using structured questionnaires. pfPR was assessed using rapid diagnostic tests (RDTs) and thick film microscopy (TFM). Associations with pfPR, based on RDT, were assessed using adjusted odds ratios (aOR) and confidence intervals (CI) from weighted survey logistic regression models. RESULTS: Plasmodium falciparum malaria prevalence (pfPR) was 39.5% (95% CI: 31.5, 47.5) by RDT and 33.4% (26.0, 40.6) by TFM. pfPR by RDT was inversely associated with higher-education parents, especially mothers (5-7 years of education: aOR 0.55; 95% CI: 0.31, 0.96, senior secondary education: aOR 0.10; 95% CI: 0.02, 0.55), living in a house near the main road (aOR 0.34; 95% CI: 0.15, 0.76), in a larger household (two rooms: aOR 0.40; 95% CI: 0.21, 0.79, more than two rooms OR 0.35; 95% CI: 0.20, 0.62). Keeping a dog near or inside the house was positively associated with pfPR (aOR 2.01; 95% CI: 1.26, 3.21). pfPR was not associated with bed-net use or indoor residual spraying. CONCLUSIONS: Nearly 40% of children in northern Tanzania had low-grade malaria antigenaemia. Higher parental education and household metrics but not mosquito bed-net use were inversely associated with pfPR.


OBJECTIFS: La Tanzanie connaît une morbidité et une mortalité importantes liées au paludisme, mais les données précises sont rares. Nous mettons à jour les données sur les profils en matière d'infection par le paludisme à Plasmodium falciparum de faible grade chez les enfants dans le nord de la Tanzanie. MÉTHODES: La prévalence du paludisme à P. falciparum (pfPR) a été évaluée sur un échantillon représentatif de 819 enfants inscrits dans 94 villages dans le nord de la Tanzanie entre octobre 2015 et août 2016, à l'aide d'un plan d'enquête complexe. Des facteurs de risque de pfPR au niveau individuel et au niveau du ménage ont été déterminés à l'aide de questionnaires structurés. La pfPR a été évaluée à l'aide de tests de diagnostic rapides (TDR) et de microscopie à film épais (TFM). Les associations avec la pfPR, sur la base des TDR, ont été évaluées à l'aide des rapports de cotes ajustés (aOR) et des intervalles de confiance (IC) de modèles de régression logistique de surveillances pondérées. RÉSULTATS: La pfPR était de 39,5% (IC95%: 31,5-47,5) avec les TDR et de 33,4% (26,0-40,6) avec la TFM. La pfPR par les TDR était inversement associée aux parents avec un niveau d'éducation plus élevé, en particulier les mères (5-7 ans d'études: aOR: 0,55; IC95%: 0,31-0,96, enseignement secondaire supérieur: aOR: 0,10; IC95%: 0,02-0,55), vivre dans une maison proche de la route principale (aOR: 0,34; IC95%: 0,15-0,76), dans un ménage plus grand (2 chambres: aOR: 0,40; IC95%: 0,21-0,79, plus de 2 pièces aOR: 0,35; IC95%: 0,20-0,62). Garder un chien près ou à l'intérieur de la maison était positivement associé à la pfPR (aOR: 2,01; IC95%: 1,26-3,21). La pfPR n'était pas associée à l'utilisation de moustiquaire ou à la pulvérisation de résidus à l'intérieur. CONCLUSIONS: Près de 40% des enfants dans nord de la Tanzanie présentaient une antigénémie paludéenne de faible grade. Un niveau d'éducation parentale plus élevé et les indicateurs du ménage, mais pas l'utilisation de moustiquaires, étaient inversement associés à la pfPR.


Asunto(s)
Malaria Falciparum/etiología , Plasmodium falciparum , Adolescente , Animales , Antígenos , Niño , Preescolar , Estudios Transversales , Perros , Escolaridad , Composición Familiar , Femenino , Vivienda , Humanos , Lactante , Recién Nacido , Modelos Logísticos , Malaria Falciparum/epidemiología , Malaria Falciparum/parasitología , Masculino , Oportunidad Relativa , Mascotas , Prevalencia , Factores de Riesgo , Índice de Severidad de la Enfermedad , Tanzanía/epidemiología
10.
Eur J Neurol ; 26(9): 1240-1243, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-30897263

RESUMEN

BACKGROUND AND PURPOSE: The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico-radiological phenotypes are a welcome handle to guide the diagnostic work-up. METHODS: Exome sequencing was used to elucidate the genetic cause of a syndrome characterized by generalized dystonia, pyramidal and cerebellar involvement, with bilateral striatal necrosis (BSN) and cerebellar atrophy on magnetic resonance imaging. Homozygosity mapping and linkage analysis were used in a supportive role. Known genetic causes of BSN were excluded by use of exome data or Sanger sequencing. RESULTS: Compound heterozygous mutations were identified in the NUBPL gene in a small UK kindred. The gene lay in a region of positive linkage and segregated with disease in a family of six individuals. CONCLUSION: NUBPL mutations cause early onset, autosomal recessive generalized dystonia with cerebellar ataxia, pyramidal signs, preserved cognition and a distinct magnetic resonance imaging appearance with BSN and cerebellar atrophy.


Asunto(s)
Enfermedades de los Ganglios Basales/genética , Enfermedades Cerebelosas/genética , Trastornos Distónicos/genética , Proteínas Mitocondriales/genética , Adulto , Atrofia/genética , Femenino , Humanos , Imagen por Resonancia Magnética , Mutación , Linaje , Secuenciación del Exoma
11.
Eur J Neurol ; 26(3): 394-e31, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-29953699

RESUMEN

BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype. Rhythmic involuntary oscillations of the hands during action, resembling tremor, can occur in MND, but their pathophysiology has not yet been investigated. METHODS: A total of 120 consecutive patients with MND were screened for tremor. Twelve patients with action tremor and no other movement disorders were found. Ten took part in the study. Tremor was recorded bilaterally using surface electromyography (EMG) and triaxial accelerometer, with and without a variable weight load. Power spectra of rectified EMG and accelerometric signal were calculated. To investigate a possible cerebellar involvement, eyeblink classic conditioning was performed in five patients. RESULTS: Action tremor was present in about 10% of our population. All patients showed distal postural tremor of low amplitude and constant frequency, bilateral with a small degree of asymmetry. Two also showed simple kinetic tremor. A peak at the EMG and accelerometric recordings ranging from 4 to 12 Hz was found in all patients. Loading did not change peak frequency in either the electromyographic or accelerometric power spectra. Compared with healthy volunteers, patients had a smaller number of conditioned responses during eyeblink classic conditioning. CONCLUSIONS: Our data suggest that patients with MND can present with action tremor of a central origin, possibly due to a cerebellar dysfunction. This evidence supports the novel idea of MND as a multisystem neurodegenerative disease and that action tremor can be part of this condition.


Asunto(s)
Enfermedades Cerebelosas/fisiopatología , Enfermedad de la Neurona Motora/fisiopatología , Temblor/fisiopatología , Adulto , Anciano , Enfermedades Cerebelosas/complicaciones , Electromiografía , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/complicaciones , Temblor/etiología
12.
Clin Radiol ; 73(1): 81-93, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28985885

RESUMEN

High-resolution ultrasound (US) provides superb anatomical detail in the superficial anatomy of the neck and has become the first-line imaging investigation for neck lumps and a crucial component of clinical pathways. In this article, a wide range of advances in neck US are described with a focus on the emerging role of ultrasound elastography. Selected examples of clinical utility are presented across a spectrum of scenarios with discussion of newer applications, service delivery, and training issues. The changing role of the neck ultrasound practitioner and the future of the technique in the head and neck are considered.


Asunto(s)
Diagnóstico por Imagen de Elasticidad/métodos , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Cabeza/diagnóstico por imagen , Humanos , Cuello/diagnóstico por imagen
13.
Clin Radiol ; 73(7): 640-646, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29636188

RESUMEN

AIM: To investigate four methods to measure the maximum dimension (MD) of metastatic neck nodes and correlate with clinical outcome in nasopharyngeal carcinoma (NPC). MATERIALS AND METHODS: Magnetic resonance imaging (MRI) examinations of 712 NPC patients were analysed. MD measurements using methods 1, 2, 3, and 4 were obtained from a single node in the axial plane; a single node in the axial/coronal plane; a single and/or confluent nodes in the axial/coronal plane; and a single and/or confluent and/or contiguous nodes in the axial/coronal plane, respectively. MDs obtained from the four methods were correlated with nodal volume (NV) using Pearson's correlation test. MDs obtained from the four methods, T and N stages, age, gender, and treatment were correlated with overall survival (OS), disease-specific survival (DSS), distant metastases free survival (DMFS), and regional relapse-free survival (RRFS) using cox regression. RESULTS: Method 4 (R: 0.84) had the strongest correlation with NV followed by method 3 (R: 0.77), method 2 (R: 0.70) and method 1(R: 0.69). Method 4 was the only independent nodal measurement of OS, DSS, and DMFS (p-values = 0.008, <0.001 and <0.001, respectively). None of the MD methods was an independent measurement of RRFS. CONCLUSIONS: The best method to obtain the MD for staging incorporates not only single and confluent, but also contiguous metastatic nodes measured in the plane with the MD.


Asunto(s)
Metástasis Linfática/diagnóstico por imagen , Metástasis Linfática/patología , Imagen por Resonancia Magnética/métodos , Carcinoma Nasofaríngeo/patología , Neoplasias Nasofaríngeas/patología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Cuello , Estadificación de Neoplasias , Reproducibilidad de los Resultados , Estudios Retrospectivos , Adulto Joven
14.
Eur J Neurol ; 24(10): 1228-e64, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28782903

RESUMEN

Dystonia is characterized by excessive muscle contractions giving rise to abnormal posture and involuntary twisting movements. Although dystonia syndromes are a heterogeneous group of disorders, certain pathophysiological mechanisms have been consistently identified across different forms. These pathophysiological mechanisms have subsequently been exploited for the development of non-invasive brain stimulation (NIBS) techniques able to modulate neural activity in one or more nodes of the putative network that is altered in dystonia, and the therapeutic role of NIBS has hence been suggested. Here all studies that applied such techniques as a therapeutic intervention in any forms of dystonia, including the few works performed in children, are reviewed and emerging concepts and pitfalls of NIBS are discussed.


Asunto(s)
Encéfalo/fisiopatología , Distonía/terapia , Trastornos Distónicos/terapia , Estimulación Transcraneal de Corriente Directa/métodos , Estimulación Magnética Transcraneal/métodos , Distonía/fisiopatología , Trastornos Distónicos/fisiopatología , Humanos , Resultado del Tratamiento
15.
Eur J Neurol ; 24(6): 796-806, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28544409

RESUMEN

BACKGROUND AND PURPOSE: One of the most widely studied perceptual measures of sensory dysfunction in dystonia is the temporal discrimination threshold (TDT) (the shortest interval at which subjects can perceive that there are two stimuli rather than one). However the elevated thresholds described may be due to a number of potential mechanisms as current paradigms test not only temporal discrimination but also extraneous sensory and decision-making parameters. In this study two paradigms designed to better quantify temporal processing are presented and a decision-making model is used to assess the influence of decision strategy. METHODS: 22 patients with cervical dystonia and 22 age-matched controls completed two tasks (i) temporal resolution (a randomized, automated version of existing TDT paradigms) and (ii) interval discrimination (rating the length of two consecutive intervals). RESULTS: In the temporal resolution task patients had delayed (P = 0.021) and more variable (P = 0.013) response times but equivalent discrimination thresholds. Modelling these effects suggested this was due to an increased perceptual decision boundary in dystonia with patients requiring greater evidence before committing to decisions (P = 0.020). Patient performance on the interval discrimination task was normal. CONCLUSIONS: Our work suggests that previously observed abnormalities in TDT may not be due to a selective sensory deficit of temporal processing as decision-making itself is abnormal in cervical dystonia.


Asunto(s)
Discriminación en Psicología/fisiología , Percepción del Tiempo/fisiología , Tortícolis/psicología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tiempo de Reacción/fisiología
17.
Eur Radiol ; 26(8): 2845-52, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26607575

RESUMEN

OBJECTIVES: To investigate the influence of variations in resting pressure (precompression) on thyroid ultrasound supersonic shear wave elastography (SWE). METHODS: Thirty-five normal thyroid glands (Norm), 55 benign hyperplastic nodules (BHN), and 17 papillary thyroid cancers (PTC) in 96 subjects underwent thyroid SWE. Four precompression levels were applied manually by the operator, ranging from A (baseline, 0 % strain) to D (high, 22-30 % strain). SWE results at each precompression level were compared using ANOVA tests with P < 0.05 indicating significance. RESULTS: SWE indices were highest in PTC, followed by BHN and Norm at each precompression level (P < 0.05). All tissue types showed successive increases in SWE results as precompression increased, although the rate was higher for PTC than BHN and Norm (Ps < 0.05). SWE values (kPa) of Norm, BHN, and PTC at baseline precompression (A) were 10.3 ± 3.3, 17.7 ± 7.6, and 22.2 ± 11.9 compared with 21.1 ± 4.2, 42.3 ± 16.0, and 97.6 ± 46.8 at high precompression (D). SWE index differences between precompression levels A and D were 10.8 kPa for Norm, 24.6 kPa for BHN, and 75.4 kPa for PTC. CONCLUSION: PTCs show greater SWE stiffening than BHN as precompression rises. Precompression effects on thyroid nodules are not negligible and may account for wide discrepancies in published SWE discriminatory performance results for thyroid malignancy. KEY POINTS: • Increases in resting pressure (precompression) applied by the operator increases thyroid stiffness. • Papillary cancers show greater increases in stiffness (strain hardening) than benign nodules. • Precompression may affect the diagnostic performance of shearwave elastography for thyroid malignancy.


Asunto(s)
Diagnóstico por Imagen de Elasticidad/métodos , Nódulo Tiroideo/diagnóstico , Ultrasonografía/métodos , Adulto , Carcinoma/diagnóstico , Carcinoma Papilar , Elasticidad , Femenino , Humanos , Masculino , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/diagnóstico
18.
Eur J Neurol ; 23(3): 562-8, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26757449

RESUMEN

BACKGROUND: Gating of sensory evoked potentials (SEPs) around the onset of a voluntary movement is a physiological phenomenon with centripetal and central components, and may reflect sensorimotor integration required for normal movement control. OBJECTIVE: Our objective was the investigation of SEP suppression at the onset of movement and the interaction between SEP suppression and vibration of the limb. METHODS: Fourteen patients with primary focal/segmental dystonia and 17 age-matched healthy volunteers were studied. SEPs were elicited after electrical stimulation of the median nerve at the wrist. Electroencephalograms (EEGs) were recorded over the scalp at three sites according to the International 10-20 System (F3, C3 and P3). SEPs were recorded in four conditions: at rest, at the onset of movement (a self-paced abduction movement of the right thumb), both in the absence and in the presence of vibration of the limb. RESULTS: Repeated measures anova revealed that there was a significant main effect of group [F(1, 11.1) = 0.471, P = 0.002]. Post hoc exploration of this effect revealed it to be due to an absence of SEP suppression at movement onset in patients (mean ratio SEP movement onset/rest 1.15 at F3, 1.13 at C3, 1.01 at P3) compared to controls, who had SEP suppression at movement onset (mean ratio SEP movement onset/rest 0.79 at F3, 0.78 at C3, 0.77 at P3). With vibration, SEP suppression reduced in both patients and controls to a similar extent. CONCLUSION: These results demonstrate abnormal SEP suppression at the onset of movement in patients with primary dystonia, and in addition that vibration of the limb reduces SEP suppression in patients and controls.


Asunto(s)
Trastornos Distónicos/fisiopatología , Potenciales Evocados Somatosensoriales/fisiología , Nervio Mediano/fisiopatología , Muñeca/fisiopatología , Adulto , Anciano , Estimulación Eléctrica , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad
19.
Eur J Neurol ; 23(4): 772-9, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26826067

RESUMEN

BACKGROUND AND PURPOSE: Dystonia is difficult to recognize due to its large phenomenological complexity. Thus, the use of experts in dystonia is essential for better recognition and management of dystonia syndromes (DS). Our aim was to document managing strategies, facilities and expertise available in various European countries in order to identify which measures should be implemented to improve the management of DS. METHODS: A survey was conducted, funded by the Cooperation in Science and Technology, via the management committee of the European network for the study of DS, which is formed from representatives of the 24 countries involved. RESULTS: Lack of specific training in dystonia by general neurologists, general practitioners as well as other allied health professionals was universal in all countries surveyed. Genetic testing for rare dystonia mutations is not readily available in a significant number of countries and neurophysiological studies are difficult to perform due to a lack of experts in this field of movement disorders. Tetrabenazine is only readily available for treatment of dystonia in half of the surveyed countries. Deep brain stimulation is available in three-quarters of the countries, but other surgical procedures are only available in one-quarter of countries. CONCLUSIONS: Internationally, collaboration in training, advanced diagnosis, treatment and research of DS and, locally, in each country the creation of multidisciplinary teams for the management of dystonia patients could provide the basis for improving all aspects of dystonia management across Europe.


Asunto(s)
Trastornos Distónicos/terapia , Unión Europea/estadística & datos numéricos , Médicos Generales/estadística & datos numéricos , Neurología/estadística & datos numéricos , Trastornos Distónicos/tratamiento farmacológico , Médicos Generales/educación , Encuestas de Atención de la Salud/estadística & datos numéricos , Humanos , Neurología/educación
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