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1.
Int J Audiol ; 59(9): 647-653, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32100579

RESUMO

Objective: Systematic evaluation of studies using otoacoustic emissions (OAEs) to monitor cochlear damage in patients with bacterial meningitis.Design: Systematic review. This includes articles retrieved from PUBMED and EMBASE. The search-strategy was based on the PICO-model. Data processing involved Cochrane Public Health Data Extraction template in addition to assessment of risk of bias and applicability with the Second Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool.Study samples: Thirty-eight articles were identified with 6 studies comprising 391 children and 17 adult patients eligible for full assessment.Results: Studies were heterogenic and the timing of OAE was incomparable between studies. The frequency of severe loss of hearing was reported to occur between 1.6 and 21% of the patients with culture-proven meningitis. The included studies, albeit heterogenic, found OAE-screening feasible and sensitive in children recovering from bacterial meningitis.Conclusion: No children with hearing loss were reported to pass an OAE screening in any of the included studies. The timing, sensitivity and extent of sensorineural hearing loss determined by OAE could not be assessed from the included studies. Levels of risk of bias were inconsistent and the clinical feasibility for routine inclusion of patients with bacterial meningitis was uncertain. The technological development within this field implies the need for further research.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva , Meningites Bacterianas , Adulto , Criança , Testes Auditivos , Humanos , Meningites Bacterianas/complicações , Meningites Bacterianas/diagnóstico , Emissões Otoacústicas Espontâneas
2.
Ugeskr Laeger ; 186(7)2024 02 12.
Artigo em Dinamarquês | MEDLINE | ID: mdl-38445328

RESUMO

External otitis (EO) is a common and often painful infection in the ear canal. This review provides an overview of the typical presentation, causes, complications, and treatment of EO. The condition is influenced by factors like pH levels, inflammation, and bacterial or fungal invasion. Most common bacteria involved are Pseudomonas aeruginosa and Staphylococcus aureus, and most common fungi are Aspergillus and Candida species. EO can lead to serious complications, such as necrotising EO, which requires prompt medical attention. Treatment involves local care, ear drops, and, in severe cases, systemic antibiotics.


Assuntos
Otite Externa , Infecções Estafilocócicas , Humanos , Inflamação , Antibacterianos/uso terapêutico , Candida
3.
Dan Med J ; 70(6)2023 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-37341351

RESUMO

INTRODUCTION: Tonsillectomy is one of the most common procedures in the ear, nose and throat field, and 7.7% of the Danish population had undergone a tonsillectomy by the age 20 years in 2012. One feared complication is post-tonsillectomy haemorrhage (PTH), which in a Danish register-based study was found to increase from 3% in 1991 to 13% in 2012. PTH represents a significant risk and deaths are reported in the literature. The aim of the trial is to compare hot and cold haemostasis during tonsillectomy and assess, firstly, the risk of PTH and, secondly, the reported pain perception. METHODS: This is a single-centre, two-arm, interventional randomised controlled trial. The study targets patients > 12 years of age referred for tonsillectomy. Participants will have both tonsils removed; on one side cold haemostasis will be performed and on the other hot diathermia will secure haemostasis. The participants will subsequently receive three questionnaires in the course of a month concerning bleeding episodes and pain perception. Owing to the study design, patients and surgeons act as their own controls. CONCLUSIONS: The results of the study may guide future research and practice of tonsillectomy to reduce the risk of PTH. FUNDING: Lizzi and Mogens Staal Fonden and Nordsjællands Hospital. The funding sources had no influence on trial design, data collection, analysis or publication. CLINICALTRIALS: gov Identifier: NCT05161754. Registration date: 20042021; version 2: 20042021.


Assuntos
Tonsilectomia , Humanos , Adulto Jovem , Adulto , Tonsilectomia/efeitos adversos , Tonsila Palatina/cirurgia , Medo , Hemorragia , Hospitais , Ensaios Clínicos Controlados Aleatórios como Assunto
4.
Open Forum Infect Dis ; 10(3): ofad056, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36879624

RESUMO

Background: Hearing loss and deafness are well-known sequelae from bacterial meningitis (ABM) and may result in social dysfunction and learning difficulties. Yet, the timely development of hearing loss and restitution is poorly studied, especially among adults. Hearing loss was revisited using otoacoustic emissions (OAEs) to determine the occurrence, magnitude, and development of hearing loss among adults with ABM. Methods: Distortion product OAEs were measured in patients with ABM the day of admission and days 2, 3, 5-7, and 10-14 and at follow-up 30-60 days after discharge. Frequencies were categorized as low (1, 1.5, 2 kHz), mid (3, 4, 5 kHz), mid-high (6, 7, 8 kHz), and high (9, 10 kHz). Audiometry was performed on discharge and 60 days after. Results were compared with 158 healthy controls. Results: OAE was obtained in 32 patients. ABM was due to S. pneumoniae in 12 patients (38%). All patients were treated with dexamethasone. OAE emission threshold levels (ETLs) were significantly decreased upon admission and at follow-up in all frequencies compared with healthy controls. A substantial and significant decrease in ETLs was found in S. pneumoniae meningitis. Sensorineural hearing loss (SNHL) >20 dB was present in 13 of 23 (57%) at discharge and in 11 of 18 patients (61%) 60 days after discharge. Hearing recovery decreased from day 3. Conclusions: Hearing loss in ABM still affects >60% of patients despite treatment with dexamethasone. In S. pneumoniae meningitis, SNHL is profound and permanent. A window of opportunity for systemic or local treatments aiming to preserve cochlear function is proposed.

5.
J Headache Pain ; 13(1): 21-7, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21964821

RESUMO

A large two-stage GWAS by Antilla et al. reported the minor allele of rs1835740 on 8q22.1 to be associated with common types of migraine. The objective of the present study was to determine the clinical correlate of the variant in migraine without aura (MO). Clinical data on 339 successfully genotyped MO patients (patients with attacks of migraine without aura and no attacks of migraine with aura) were obtained by an extensive validated semi-structured telephone interview performed by a physician or a trained senior medical student. Reliable, systematic and extensive data on symptoms, age of onset, attack frequencies and duration, relevant comorbidity, specific provoking factors including different hormonal factors in females, and effect and use of medication, both abortive and prophylactic, were thereby obtained. A comparison of carriers and non-carriers were performed. Comparison of homozygotes with heterozygotes was not performed as the number of homozygotes was too small for statistical purposes. Data from other MO populations in the GWAS by Antilla et al. were not included as phenotype and clinical data were obtained differently. While thousands of patients are needed to detect a genetic variant like rs1835740, 339 are sufficient to detect meaningful clinical differences. 136 of 339 patients were carriers of the variant, 15 were homozygous. Comparison of carriers with non-carriers showed no significant difference in any of the parameters studied. In conclusion, the rs1835740 variant has no significant influence on the clinical expression of MO.


Assuntos
Cromossomos Humanos Par 8/genética , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Enxaqueca sem Aura/genética , Idade de Início , Feminino , Heterozigoto , Humanos , Masculino , Adulto Jovem
6.
Ugeskr Laeger ; 184(40)2022 10 03.
Artigo em Dinamarquês | MEDLINE | ID: mdl-36205149

RESUMO

Perilymphatic fistula (PLF) is a rare condition with a pathological communication between the inner ear and usually the middle ear, causing both cochlear and vestibular symptoms. PLF is typically treated with either a conservative approach or surgically with grafting. But a new treatment has been proposed: intratympanic injection of autologous blood, blood patch. This is a case report of a 21-year-old woman who presented herself with PLF and was successfully treated with blood patch.


Assuntos
Orelha Interna , Fístula , Doenças do Labirinto , Doenças Vestibulares , Adulto , Orelha Interna/cirurgia , Feminino , Fístula/diagnóstico , Fístula/etiologia , Fístula/terapia , Humanos , Injeção Intratimpânica , Doenças do Labirinto/complicações , Doenças do Labirinto/cirurgia , Adulto Jovem
7.
J Int Adv Otol ; 18(6): 501-506, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36349672

RESUMO

BACKGROUND: Obstructive Eustachian tube dysfunction in adults is common. The purpose of this study was to examine whether balloon dilation of the Eustachian tube can improve ventilation of the middle ear among adult patients with mild chronic Eustachian tube dysfunction. METHODS: This study included patients aged ≥18 years with unilateral chronic Eustachian tube dysfunction confirmed with an abnormal tympanometry and a retracted tympanic membrane. Patients were treated daily with nasal steroid spray and Valsalva maneuver for 2 months. If Eustachian tube dysfunction persisted, they were enrolled in the study and randomized to balloon dilation of the Eustachian tube or control. All patients underwent otomicroscopy, tympanometry, pure-tone audiometry and the Eustachian Tube Dysfunction Questionnaire-7. Follow-up visits were completed at 3 weeks, 3 months, and 6 months. RESULTS: In total, 24 patients completed the study (13 balloon dilation of the Eustachian tube, 11 control). The balloon dilation of the Eustachian tube group showed normalization from retraction or serous otitis media in 9 out of 13 patients (P = .0006) compared to 0 out of 11 patients in the control group. In the balloon dilation of the Eustachian tube group, 9 out of 13 patients showed an improvement in tympanometry from B to C/A or from C to A (P = .04) compared to 3 out of 11 patients in the control group. The audiometric data showed no difference (P = .38). There was no significant difference in mean Eustachian Tube Dysfunction Questionnaire-7 score between the two groups (P = .35). In the balloon dilation of the Eustachian tube group, 69% answered that they had benefitted from the treatment. CONCLUSION: The procedure is feasible and no complications were reported. The study indicates that balloon dilation of the Eustachian tube may be a beneficial treatment in a selected group of adult patients with mild chronic Eustachian tube dysfunction.


Assuntos
Otopatias , Tuba Auditiva , Adulto , Humanos , Adolescente , Tuba Auditiva/cirurgia , Dilatação/métodos , Seguimentos , Resultado do Tratamento , Otopatias/terapia
8.
Cephalalgia ; 31(4): 416-38, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20847084

RESUMO

OBJECTIVE: The aim of the present study was to characterize perceived consistent triggers of migraine with aura (MA). METHOD: Questionnaires specifically designed to characterize various trigger factors were sent to 181 participants identified in an earlier study. All participants had formerly identified at least one factor that often or always triggered an MA attack. They only answered questions regarding this or these factor(s). RESULTS: The response rate to the questionnaire was 70% (126/179). A number of subtype triggers were mentioned by a high proportion of patients: too much work (under the stress category 54/64), reflected sunlight (under the light category 35/44), too little sleep (under the sleep category 19/24), red wine (under the alcohol category 20/22), passive smoking (under the smoke category 11/11), menstruation (under the menstruation or break from the pill category 12/14) and perfume (under the fumes/heavy scents category 12/15). Hormones, light and stress were reported to cause at least 50 % of MA attacks in 62%, 47% and 42% of participants, respectively. No participants reported alcohol to be the trigger of 50% or more of their attacks. In the groups of participants with "light", "fumes/heavy scents", "smoke" or "physical effort" as triggers, nearly all patients reported that an exposure time to the trigger of less than 3 hours (90-100% of patients) was necessary to trigger an attack and a latency to onset of attack of less than 3 hours (90-100% of patients). CONCLUSION: Our study has provided new knowledge about factors that in particular patients consistently trigger MA. In daily routine practice this information should be helpful in identifying factors to avoid. Patients with trigger factors that always or usually trigger attacks of MA will be highly useful for imaging and other experimental studies.


Assuntos
Enxaqueca com Aura/epidemiologia , Enxaqueca com Aura/etiologia , Sistema de Registros , Inquéritos e Questionários , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/psicologia , Exposição Ambiental/efeitos adversos , Feminino , Humanos , Masculino , Menstruação/psicologia , Pessoa de Meia-Idade , Enxaqueca com Aura/psicologia , Estresse Psicológico/complicações , Estresse Psicológico/psicologia , Luz Solar/efeitos adversos , Adulto Jovem
9.
Ugeskr Laeger ; 183(50)2021 12 13.
Artigo em Dinamarquês | MEDLINE | ID: mdl-34895436

RESUMO

Spontaneous pneumomediastinum is a rare condition caused by a bronchial or alveolar rupture. The condition is often benign and self-limiting, but rapid diagnosis is essential, and potentially dangerous differential diagnoses must be eliminated. In this case report, we present a 16-year-old male who developed voice changes, a sore throat and swelling of the neck in relation to football cheering. X-ray and CT findings showed pneumomediastinum and supraclavicular subcutaneous emphysema. No treatment was necessary, and after one week there were no symptoms left.


Assuntos
Enfisema Mediastínico , Futebol , Enfisema Subcutâneo , Adolescente , Humanos , Masculino , Enfisema Mediastínico/diagnóstico por imagem , Enfisema Mediastínico/etiologia , Pescoço , Enfisema Subcutâneo/diagnóstico por imagem , Enfisema Subcutâneo/etiologia , Tomografia Computadorizada por Raios X
10.
Ugeskr Laeger ; 183(4)2021 01 25.
Artigo em Dinamarquês | MEDLINE | ID: mdl-33491630

RESUMO

Middle-ear cholesteatoma is a serious illness of the ear, which untreated can often lead to serious complications. The treatment is always surgical. The operation focuses on removing the cholesteatoma and repairing damaged structures like the ossicular chain. It is of utmost importance, that primary care physicians maintain a high suspicion for the presence of cholesteatoma. The most accessible tool is otoscopy. This review gives an overview of symptoms, signs in otoscopy and treatment modalities of cholesteatoma patients in Denmark.


Assuntos
Colesteatoma da Orelha Média , Colesteatoma da Orelha Média/diagnóstico , Colesteatoma da Orelha Média/cirurgia , Humanos , Otoscopia , Atenção Primária à Saúde , Estudos Retrospectivos
11.
Dan Med J ; 67(7)2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32734886

RESUMO

INTRODUCTION: Eustachian tube dysfunction (ETD) may result in hearing loss, chronic otitis and cholesteatoma. With advances in treatment options, the identification of patients with obstructive ETD is becoming increasingly important. The objective of this study was to validate a Danish translation of the 7-item Eustachian Tube Dysfunction Questionnaire (ETDQ-7). METHODS: All participants underwent tympanometry, otomicroscopy and completed the ETDQ-7. We included 34 ears from patients with obstructive ETD who had abnormal tympanometry curves but no history of cholesteatoma or adhesive otitis. As a control group, 48 otherwise healthy ears with a normal tympanometry curve were included from patients with known sensorineural hearing loss or normal hearing. RESULTS: A Cronbach's alpha of 0.77 indicated a good internal consistency reliability of the questionnaire. The mean ETDQ-7 score in the obstructive ETD group was 31 versus 13.5 in the control group (p = 0.00). A receiver operating characteristics analysis produced an area under the curve of 94%, showing excellent discriminatory abilities between the groups. CONCLUSIONS: The ETDQ-7 has previously been validated in English, German, Dutch and Portuguese, demonstrating good clinical relevance. The Danish translation of the ETDQ-7 has produced similar results and may be valuable in diagnosing obstructive ETD and in monitoring the effect of balloon dilation of the Eustachian tube. FUNDING: none. The study was approved by the Danish Data Protection Agency (VD-2018-33, I-Suite 6229).


Assuntos
Técnicas de Diagnóstico Otológico/normas , Otopatias/diagnóstico , Tuba Auditiva , Inquéritos e Questionários/normas , Testes de Impedância Acústica , Adulto , Área Sob a Curva , Dinamarca , Feminino , Humanos , Masculino , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Traduções
12.
Clin Exp Dent Res ; 6(4): 433-438, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32337861

RESUMO

OBJECTIVES: Neutrophil gelatinase associated lipocalin (NGAL) is secreted from activated neutrophil granulocytes and is considered an acute phase protein. The aim of this pilot study was to determine whether the NGAL concentration in saliva increases in response to a bacterial throat infection and identify pitfalls, which shall be taken into account in a protocol in a larger hypothesis testing study. METHODS: Saliva samples for measurement of NGAL concentration where obtained from cases with an acute throat infection (n = 21) and controls (n = 24). Among cases, plasma NGAL, plasma CRP, and whole blood leukocytes, were measured as well. RESULTS: There was no significant difference in NGAL saliva concentration between cases and controls overall (p = .31). For both cases and controls, the saliva NGAL concentration decreased significantly after cleansing the mouth with tap water (cases p = .01; controls p = .01). Among cases, a significant positive correlation between saliva NGAL concentrations before mouth cleansing and plasma CRP concentrations (p = .001) was observed. Blood neutrophil granulocyte count presented a nonsignificant positive correlation to saliva NGAL (p = .07). CONCLUSION: We could not demonstrate a simple association between the salivary NGAL concentration and pharyngeal bacterial infection. Furthermore, the salivary NGAL concentrations were higher among some controls than cases, suggesting that cofounders for example, periodontitis, uneven salivary dilution level, or other exogenous factors affect salivary NGAL content.


Assuntos
Bactérias/isolamento & purificação , Infecções Bacterianas/complicações , Biomarcadores/metabolismo , Lipocalina-2/metabolismo , Doenças Faríngeas/diagnóstico , Saliva/química , Adolescente , Adulto , Idoso , Bactérias/patogenicidade , Infecções Bacterianas/microbiologia , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Faríngeas/metabolismo , Doenças Faríngeas/microbiologia , Projetos Piloto , Prognóstico , Adulto Jovem
13.
Ugeskr Laeger ; 181(16)2019 Apr 15.
Artigo em Dinamarquês | MEDLINE | ID: mdl-31036153

RESUMO

Ankyloglossia, or tongue-tie, is a congenital malformation, in which a short, lingual frenulum or a tight genioglossus muscle restricts tongue movement. In newborns, the reported prevalence is 2-11%. However, only 18% of newborns, in whom clinical findings suggest ankyloglossia, develop symptoms. Several randomised clinical trials report a significant reduction in maternal nipple pain after frenotomy. Frenotomy is a low-procedure surgery, but the benefits are sparsely documented. Parents should be presented with risk and benefits, before a frenotomy is offered.


Assuntos
Aleitamento Materno , Freio Lingual , Anquiloglossia , Feminino , Humanos , Recém-Nascido , Pais , Língua
14.
Neurosurgery ; 80(1): 49-56, 2017 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-27571523

RESUMO

BACKGROUND: Reports on the natural history of tumor growth and hearing in patients with a vestibular schwannoma (VS) are almost exclusively short-term data. Long-term data are needed for comparison with results of surgery and radiotherapy. OBJECTIVE: To report the long-term occurrence of tumor growth and hearing loss in 156 patients diagnosed with an intracanalicular VS and managed conservatively. METHODS: In this longitudinal cohort study, diagnostic and follow-up magnetic resonance imaging and audiometry were compared. RESULTS: After a follow-up of 9.5 years, tumor growth had occurred in 37% and growth into the cerebellopontine angle had occurred in 23% of patients. Conservative treatment failed in 15%. The pure tone average had increased from 51- to 72-dB hearing level, and the speech discrimination score (SDS) had decreased from 60% to 34%. The number of patients with good hearing (SDS > 70%) was reduced from 52% to 22%, and the number of patients with American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) class A hearing was reduced from 19% to 3%. Hearing was preserved better in patients with 100% SDS at diagnosis than in patients with even a small loss of SDS. Serviceable hearing was preserved in 34% according to AAO-HNS (class A-B) and in 58% according to the word recognition score (class I-II). Rate of hearing loss was higher in patients with growing tumors. CONCLUSION: Tumor growth occurred in only a minority of patients diagnosed with an intracanalicular VS during 10 years of observation. The risk of hearing loss is small in patients with normal discrimination at diagnosis. Serviceable hearing is preserved spontaneously in 34% according to AAO-HNS and in 58% according to the word recognition score.


Assuntos
Perda Auditiva/etiologia , Neuroma Acústico/patologia , Neuroma Acústico/cirurgia , Adulto , Idoso , Ângulo Cerebelopontino/patologia , Estudos de Coortes , Feminino , Perda Auditiva/diagnóstico , Testes Auditivos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
15.
Ugeskr Laeger ; 177(51): V07150576, 2015 Dec 14.
Artigo em Dinamarquês | MEDLINE | ID: mdl-26692036

RESUMO

Dizziness caused by migraine, vestibular migraine (VM), has been highly debated over the last three decades. The co-morbidity of migraine and dizziness is higher than a random concurrence. One third of the patients with migraine and dizziness have VM. Recently, The International Headache Society approved VM as a diagnostic entity and the diagnostic criteria for VM appear in the appendix for The International Classification of Headache Disorders. VM is common but often underdiagnosed. Treatment follows migraine management guidelines although evidence is sparse.


Assuntos
Transtornos de Enxaqueca , Vertigem , Diagnóstico Diferencial , Humanos , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/etiologia , Transtornos de Enxaqueca/terapia , Vertigem/complicações , Vertigem/diagnóstico , Vertigem/etiologia , Vertigem/terapia
16.
Nat Genet ; 42(10): 869-73, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20802479

RESUMO

Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or molecular markers for migraine have been convincingly established. We identified the minor allele of rs1835740 on chromosome 8q22.1 to be associated with migraine (P = 5.38 × 10⁻9, odds ratio = 1.23, 95% CI 1.150-1.324) in a genome-wide association study of 2,731 migraine cases ascertained from three European headache clinics and 10,747 population-matched controls. The association was replicated in 3,202 cases and 40,062 controls for an overall meta-analysis P value of 1.69 × 10⁻¹¹ (odds ratio = 1.18, 95% CI 1.127-1.244). rs1835740 is located between MTDH (astrocyte elevated gene 1, also known as AEG-1) and PGCP (encoding plasma glutamate carboxypeptidase). In an expression quantitative trait study in lymphoblastoid cell lines, transcript levels of the MTDH were found to have a significant correlation to rs1835740 (P = 3.96 × 10⁻5, permuted threshold for genome-wide significance 7.7 × 10⁻5. To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine.


Assuntos
Cromossomos Humanos Par 8/genética , Predisposição Genética para Doença , Genoma Humano , Estudo de Associação Genômica Ampla , Repetições de Microssatélites/genética , Transtornos de Enxaqueca/genética , Antígenos de Superfície/genética , Proteínas de Ligação ao Cálcio/genética , Estudos de Casos e Controles , Moléculas de Adesão Celular/genética , Células Cultivadas , Feminino , Genótipo , Glutamato Carboxipeptidase II/genética , Humanos , Linfócitos/metabolismo , Masculino , Proteínas de Membrana , Locos de Características Quantitativas , Proteínas de Ligação a RNA
17.
Curr Opin Neurol ; 19(3): 286-93, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16702837

RESUMO

PURPOSE OF REVIEW: To discuss the consequences of recent clinical data on migraine with aura for clinical practice and future research in the light of new diagnostic criteria for migraine with aura. RECENT FINDINGS: Migraine with aura is now distinguished from hemiplegic migraine and from basilar migraine. Migraine with typical aura has an aura consisting of visual, sensory, or speech symptoms. The aura symptoms typically develop gradually over 5 or more minutes, last between 5 and 60 minutes and, when more than one symptom is present, they occur in succession. Half-sidedness is typical of visual and sensory symptoms, whereas speech symptoms are typically aphasic, primarily of the Broca type. A visual aura rating scale with a high sensitivity and specificity has been developed to standardize the diagnosis of visual aura. The new classification, the new criteria, and the new knowledge about clinical features of migraine with aura are important both for routine clinical diagnosis and for future research studies. SUMMARY: Recent studies of the clinical features of migraine with aura allow a more precise diagnosis and classification than previously possible. A clear distinction between migraine with typical aura, hemiplegic migraine, and basilar migraine is important for genetic and other research studies.


Assuntos
Enxaqueca com Aura , Pesquisa Biomédica , Estudos Epidemiológicos , Humanos , Enxaqueca com Aura/classificação , Enxaqueca com Aura/diagnóstico , Enxaqueca com Aura/epidemiologia , Enxaqueca com Aura/fisiopatologia
18.
Am J Med Genet B Neuropsychiatr Genet ; 141B(3): 250-6, 2006 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-16508934

RESUMO

Epidemiological studies indicate that migraine with typical aura (MA) has a major genetic component but the genes for MA have not been identified. However, the autosomal dominantly inherited familial hemiplegic migraine (FHM) is often caused by mutations in the CACNA1A or ATP1A2 genes. The aim of the study was to investigate if the CACNA1A or ATP1A2 genes are involved in MA with an apparently autosomal dominant mode of inheritance. From a clinic population diagnosed by a trained physician we recruited 34 extended families (comprising 174 MA patients) with an apparently autosomal dominant mode of inheritance of MA. We performed a linkage analysis of 161 of 174 MA patients and 79 unaffected relatives using a framework marker set of 44 markers for chromosome 1 and 22 markers for chromosome 19. Linkage analysis was made with a non-parametric or autosomal dominant parametric model, either allowing for heterogeneity or not, using an affected only analysis. We identified no linkage to CACNA1A and ATP1A2 loci on chromosome 19 or 1, respectively. Additionally, at least two patients from each family and 92 healthy, unrelated controls were selected for a sequence analysis. We sequenced the 48 exons of CACNA1A and the 23 exons of ATP1A2, including promoter and flanking intron sequences. No polymorphism was identified in the CACNA1A or ATP1A2 genes with a strong correlation to MA. Our study shows that the CACNA1A or ATP1A2 genes are probably not involved in MA. To identify the genes involved in the common forms of migraine, future genetic studies should focus on MA and migraine without aura (MO) and not FHM.


Assuntos
Canais de Cálcio/genética , Genes Dominantes/genética , Enxaqueca com Aura/genética , ATPase Trocadora de Sódio-Potássio/genética , Análise Mutacional de DNA , Dinamarca , Saúde da Família , Feminino , Genótipo , Humanos , Escore Lod , Masculino , Mutação
19.
Neurology ; 66(6): 880-6, 2006 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-16567706

RESUMO

BACKGROUND: It remains uncertain whether basilar-type migraine (BM) is a subtype of migraine with typical aura (MTA) or a distinct phenotype or genotype. OBJECTIVE: To analyze the symptomatology, familial distribution, and genotype of BM. METHODS: The authors recruited 105 families comprising 362 patients with MTA or BM (International Classification of Headache Disorders-1 criteria). Among these patients, 38 patients from 29 families had BM. In 12 of the families with BM with an apparently dominant inheritance the authors sequenced all exons of the CACNA1A (chromosome 19) and ATP1A2 (chromosome 1) genes responsible for most cases of the autosomal dominantly inherited familial hemiplegic migraine and performed a linkage analysis of chromosome 1 and 19 with a nonparametric or autosomal dominant parametric model using an affected only analysis. RESULTS: BM occurred in 10% (38/362) of patients with MTA. The basilar-type aura had a median duration of 60 minutes and comprised vertigo 61%, dysarthria 53%, tinnitus 45%, diplopia 45%, bilateral visual symptoms 40%, bilateral paresthesias 24%, decreased level of consciousness 21%, hypacusia 21%, and ataxia 5%. The relative frequency of the individual basilar-type symptoms was not different from patients with hemiplegic migraine from a previous study. The patients with BM were equally distributed among the 105 families with MTA (p = 0.37). The attacks of MTA were identical in families with or without BM. No causative mutations and no linkage was identified. CONCLUSIONS: Basilar-type aura seemingly may occur at times in any patient with migraine with typical aura. There is no firm clinical, epidemiologic, or genetic evidence that BM is an independent disease entity different from MTA.


Assuntos
Tronco Encefálico , Ligação Genética/genética , Enxaqueca com Aura/epidemiologia , Enxaqueca com Aura/genética , Adulto , Idoso , Tronco Encefálico/fisiologia , Canais de Cálcio/genética , Cromossomos Humanos Par 19/genética , Dinamarca/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Enxaqueca com Aura/fisiopatologia , Linhagem , Sistema de Registros
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