RESUMO
AIM: To explore post traumatic headache characteristics and risk factors in compensation claimants by observational retrospective cohort analysis. CASE RESULTS: Medicolegal reports on 116 consecutive compensation claimants aged 41.9 ± 15.0 years were reviewed 21 ± 14 months after injury. Eighty eight had suffered head and neck injuries, 21 reported only neck injury and seven had "other injuries". Ninety four percent of the head injuries were "mild". The incidence of post traumatic headache following neck injury did not differ from that following head and neck injury, and none of the "other injuries" cases developed post traumatic headache. We anticipated that all head and neck injury claimants would seek compensation for post traumatic headache, but 25% denied developing headache. Post traumatic headache was very strongly correlated with a past history of primary headache ( p < 0.0001) but no other risk factors were identified. Post traumatic headache semiology was consistent with "migraine" or "probable migraine" in 90% of cases. Headache resolved in 30% of claimants between 3 and 24 months after injury but 70% continued to suffer headaches at the time of assessment. Forty one percent of claimants had received no treatment for post traumatic headache in primary care. CONCLUSIONS: Our data suggest that post traumatic headache is essentially "migraine" provoked by head or neck concussion. It is not clear why so many post traumatic headache sufferers receive poor or inadequate treatment for this condition.
Assuntos
Concussão Encefálica/complicações , Síndrome Pós-Concussão/etiologia , Cefaleia Pós-Traumática/etiologia , Adulto , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/etiologia , Síndrome Pós-Concussão/epidemiologia , Cefaleia Pós-Traumática/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Reino Unido/epidemiologiaRESUMO
Background Migraine-tic syndrome was first reported in 2004 in a 44-year-old woman who had concomitant symptoms of both typical trigeminal neuralgia and migraine. We report here two further cases of migraine-tic syndrome and speculate on the relevance of this condition to the pathophysiology of headache. Case reports A 43-year-old woman presented with typical trigeminal neuralgia symptoms that preceded the onset of migraine headache; both headache types responded to treatment with sumatriptan. A 35-year-old woman presented with trigeminal neuralgia that consistently followed the onset of migraine headache. The former aspect responded to baclofen, but the migraine headache required treatment with amitriptyline. Discussion These two patients provide further support for the presence of an overlap syndrome of migraine-tic. We suggest that there is a common pathway for trigeminal neuralgia and migraine.
Assuntos
Transtornos de Enxaqueca/complicações , Neuralgia do Trigêmeo/complicações , Adulto , Feminino , Humanos , Transtornos de Enxaqueca/fisiopatologia , Síndrome , Tiques/complicações , Tiques/fisiopatologia , Neuralgia do Trigêmeo/fisiopatologiaRESUMO
Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.
Assuntos
Canais de Cloreto/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Adulto , Idoso , Anoctaminas , Canais de Cloreto/metabolismo , Europa (Continente)/epidemiologia , Feminino , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Distrofia Muscular do Cíngulo dos Membros/metabolismo , Fenótipo , Prevalência , Estudos Retrospectivos , Fatores SexuaisRESUMO
BACKGROUND: The current definition of cough headache includes provocation of the symptom by Valsalva manoeuvre, and it is generally believed that all cough headache results from a sudden increase in intracranial pressure. We sought to question that presumption and to determine whether the Valsalva test might distinguish primary from secondary cough headache. METHODS: We examined 16 consecutive cough headache patients using a modified Valsalva test (exhalation into the connecting tube of a standard anaeroid sphygmomanometer to 60 mm Hg for 10 seconds). A positive response was recorded if the manoeuvre provoked headache. All patients subsequently underwent brain MRI. RESULTS: None of the patients had neurological signs. Eleven had positive modified Valsalva tests. Ten were found subsequently to have posterior fossa pathologies (secondary cough headache: 8 Chiari Type 1 malformations, 2 posterior fossa meningiomas). The cough headache was relieved following surgery in all cases. One patient with a positive Valsalva test had an apparently normal brain MRI but measurements of hindbrain and posterior fossa dimensions were consistent with 'posterior fossa crowdedness'. The remaining 5 patients had negative (4 patients) or equivocal (1 patient) Valsalva tests and normal MRI scans (primary cough headache). CONCLUSIONS: These findings suggest that secondary cough headache results from a transient increase in intracranial CSF pressure during exertion in the presence of obstruction to normal cerebrospinal fluid dynamics. The modified Valsalva test can also determine whether tonsillar herniation found on brain MRI is symptomatic. Primary cough headache appears to be caused by a different mechanism, possibly through congestion of the orbital venous plexus in the presence of jugular venous incompetence and a reduced threshold for trigeminal sensory activation.
Assuntos
Encéfalo/patologia , Transtornos da Cefaleia Primários/diagnóstico , Transtornos da Cefaleia Secundários/diagnóstico , Manobra de Valsalva , Adulto , Idoso , Tosse/complicações , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
We report greater amplitude of horizontal contrapulsion on upward vs. downward vertical saccades in a patient with saccadic contrapulsion as a result of a focal demyelinating lesion of the left dorsolateral medulla. The vertical asymmetry in horizontal saccadic contrapulsion likely relates to an imbalance of fastigial oculomotor inputs on horizontal burst neurons during vertical saccades as reported in nonhuman primates. Our finding suggests that such asymmetry is also present in humans and provides insight into the pathophysiology of saccade generation.
Assuntos
Síndrome Medular Lateral/complicações , Transtornos da Motilidade Ocular/etiologia , Movimentos Sacádicos/fisiologia , Adulto , Humanos , Imageamento por Ressonância Magnética , Masculino , Bandas Oligoclonais/líquido cefalorraquidianoRESUMO
AimTo outline the pathways a cohort of first attendees to our headache clinics had taken over the years in search of explanations and treatment for their headaches. To establish a greater awareness of the shortcomings and failures in their medical journey in the hope that better headache management will emerge in primary care. BACKGROUND: At first attendance in primary care most headache sufferers will not receive a firm diagnosis. Treatments provided are often ineffective and so many patients embark on a somewhat random self-made journey searching for a remedy. If they reach a Headache Clinic the most common diagnoses are 'chronic migraine' and 'medication overuse headache'. They are either no better or worse than when their headaches first started despite their efforts. METHOD: We undertook a prospective questionnaire-based study of over 200 patients on first attendance at each of our headache clinics, three based in District General Hospitals and one in a tertiary referral centre. We documented the patients' headache characteristics, the 'burden' of their headaches, functional handicap and the financial costs incurred seeking help before referral. We also documented what our patients understood about their headache disorder and the treatments previously tried.FindingsMost patients had not been given a formal diagnosis in primary care and many remained unconvinced of the benign nature of their headache problem and wanted further investigations. A few had sought help from headache charities. Many had unrealistic attitudes to their problem and medication overuse was rife. A few patients had been offered triptans in primary care. Key deficiencies in the primary care management of these patients included failure to provide a formal headache diagnosis, inadequate understanding of the nature and mechanism of headaches and failure to follow a resilient management strategy. We provide a more effective management pathway in primary care.
Assuntos
Transtornos da Cefaleia/diagnóstico , Transtornos da Cefaleia/terapia , Atenção Primária à Saúde/métodos , Doença Crônica , Estudos de Coortes , Humanos , Estudos Prospectivos , Encaminhamento e Consulta , Inquéritos e Questionários , Reino UnidoRESUMO
Free radical accumulation and oxidative stress have been proposed as contributing to the progression of amyotrophic lateral sclerosis (motor neuron disease). A range of antioxidant medications is available, and has been studied. We aimed to examine the effects of antioxidant medication in the treatment of people with amyotrophic lateral sclerosis, and searched the Cochrane Neuromuscular Disease Group Trials register (August 2005), MEDLINE (January 1966 to August 2005), EMBASE (January 1980 to August 2005) and other sources. Selection criteria were all randomized or quasi-randomized controlled trials of antioxidant treatment for amyotrophic lateral sclerosis. The authors independently applied the selection criteria, assessed study quality and two authors performed independent data extraction. The search identified 23 studies for consideration but only nine studies met the inclusion criteria. Only two studies used our predetermined primary outcome measure as the primary outcome measure (survival at 12 months treatment). However, sufficient data were available from four studies to allow analysis of this outcome measure, and a meta-analysis was performed. In the individual studies no significant effect was observed for vitamin E 500 mg twice daily; vitamin E 1 g five times daily; acetylcysteine 50 mg/kg daily subcutaneous infusion; or a combination of L-methionine 2 g, vitamin E 400 International Units, and selenium 0.03 mg three times daily (Alsemet). No significant effect on the primary outcome measure was observed in a meta analysis of all antioxidants combined. No significant differences were demonstrated in any of the secondary outcome measures. In the opinion of the reviewers, there is insufficient evidence of efficacy of individual antioxidants, or antioxidants in general, in the treatment of people with amyotrophic lateral sclerosis. One study reported a mild positive effect, but this was not supported by the analysis we used. Generally, the studies were poorly designed, and underpowered, with low numbers of participants and of short duration. Further well-designed trials of medications such as vitamin C and E are unlikely to be performed. If future trials of antioxidant medications are performed, careful attention should be given to sample size, outcome measures, and duration of the trial. The high tolerance and safety, and relatively low cost of vitamins C and E, and other considerations related to the lack of other effective treatments for amyotrophic lateral sclerosis, explain the continuing use of these vitamins by physicians and people with amyotrophic lateral sclerosis. While there is no substantial clinical trial evidence to support their clinical use, there is no clear contraindication.
Assuntos
Esclerose Lateral Amiotrófica/tratamento farmacológico , Antioxidantes/uso terapêutico , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
We report two patients with facioscapulohumeral muscular dystrophy (FSHD) presenting with atypical clinical features. Both were found to have antibodies to acetylcholine receptor (AChR-abs) and improved with immunosuppression. AChR-abs have also been reported in patients with other genetic myopathies and it is unlikely that the association is coincidental. There is increasing evidence that muscle fibre degeneration can cause innate immune responses (autoinflammation) that may lead to the breaking of immune tolerance and the generation of autoantibodies to muscle proteins. We compare and contrast this process with the pathogenesis of archetypical myasthenia gravis.
Assuntos
Autoanticorpos/imunologia , Distrofia Muscular Facioescapuloumeral/diagnóstico , Distrofia Muscular Facioescapuloumeral/imunologia , Receptores Colinérgicos/imunologia , Adulto , Feminino , Humanos , Masculino , Proteínas Musculares/imunologia , Distrofia Muscular Facioescapuloumeral/genéticaRESUMO
The skeletal muscle ryanodine receptor plays a crucial role in excitation-contraction (EC) coupling and is implicated in various congenital myopathies. The periodic paralyses are a heterogeneous, dominantly inherited group of conditions mainly associated with mutations in the SCN4A and the CACNA1S genes. The interaction between RyR1 and DHPR proteins underlies depolarization-induced Ca(2+) release during EC coupling in skeletal muscle. We report a 35-year-old woman presenting with signs and symptoms of a congenital myopathy at birth and repeated episodes of generalized, atypical normokalaemic paralysis in her late teens. Genetic studies of this patient revealed three heterozygous RYR1 substitutions (p.Arg2241X, p.Asp708Asn and p.Arg2939Lys) associated with marked reduction of the RyR1 protein and abnormal DHPR distribution. We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features.
Assuntos
Músculo Esquelético/patologia , Doenças Musculares/genética , Doenças Musculares/patologia , Mutação/genética , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Adulto , Arginina/genética , Cafeína/farmacologia , Cálcio/metabolismo , Canais de Cálcio/genética , Canais de Cálcio Tipo L/genética , Canais de Cálcio Tipo L/metabolismo , Linhagem Celular Transformada , Análise Mutacional de DNA/métodos , Complexo IV da Cadeia de Transporte de Elétrons/efeitos dos fármacos , Saúde da Família , Feminino , Humanos , Lisina/genética , Masculino , Potenciais da Membrana/efeitos dos fármacos , Potenciais da Membrana/genética , Doenças Musculares/classificação , Canal de Sódio Disparado por Voltagem NAV1.4 , Técnicas de Patch-Clamp , Inibidores de Fosfodiesterase/farmacologia , Rianodina/metabolismo , Canal de Liberação de Cálcio do Receptor de Rianodina/metabolismo , Canais de Sódio/genética , Transfecção/métodos , Trítio/metabolismoRESUMO
Myasthenia gravis is caused by antibodies to post-synaptic neuromuscular junction proteins, most commonly nicotinic acetylcholine receptors. Evidence indicates that acetylcholine receptor antibodies must be present in the circulation prior to the development of clinical or neurophysiological manifestations of myasthenia. We describe the onset of seropositive myasthenia within minutes of minor trauma to the chest and neck in a previously asymptomatic 68-year-old man, followed by protracted disease with persistent antibodies. Such rapid evolution of myasthenia following an identifiable stimulus has not been reported previously and suggests a humoral mechanism. We speculate that the remote effects of autoinflammation secondary to tissue microtrauma led to a sudden increase in muscle permeability and greater exposure of receptors to antibody, with resulting acute impairment of neuromuscular transmission. We also suggest that the trauma might have resulted in increased antibody production by remnant thymic tissue, leading to chronic isease.