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PURPOSE: Nerve size is a commonly used sonographic parameter when assessing suspected entrapment of the ulnar nerve. We aimed to create a robust set of normal values, based on a critical review of published normal values. METHODS: We performed a systematic evaluation of studies on normal ulnar nerve sizes, identified in PubMed, Embase, and Cochrane databases. Using meta-analyses, we determined pooled mean cross-sectional area (CSA) values for different anatomical locations of the ulnar nerve throughout the arm. Subgroup analyses were performed for gender, probe frequency, in- or exclusion of diabetic patients, position of the elbow and Asian versus other populations. RESULTS: We identified 90 studies of which 77 studies were included for further analyses after quality review, resulting in data from 5772 arms of 3472 participants. Subgroup analyses show lower CSA values at at the wrist crease and proximal to the wrist crease when using low frequency probes (< 15 MHz) and at the wrist crease, proximal to the wrist crease, proximal forearm and the distal upper arm in Asians. CSA values were lower when in flexed position compared to extended position for the cubital tunnel inlet only. No difference was found for gender. CONCLUSIONS: Our systematic review provides a comprehensive set of normal values at sites along the entire length of the ulnar nerve. This provides a foundation for clinical practise and upon which future studies could be more systematically compared.
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Brazo , Nervio Cubital , Humanos , Nervio Cubital/diagnóstico por imagen , Valores de Referencia , Ultrasonografía/métodos , MuñecaRESUMEN
Restless legs syndrome (RLS) is a sleep-related disorder defined by an urgency to move the legs, usually combined with uncomfortable or unpleasant sensations, which occurs or worsens during rest, usually in the evening or at night, and disappears with the movement of the legs. RLS can be classified as idiopathic or primary, and secondary to comorbid conditions (eg, renal disease, polyneuropathy). The pathophysiology of RLS is still unclear. This article provides an updated practical guide for the treatment of primary RLS in adults.
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Síndrome de las Piernas Inquietas , Adulto , Humanos , Síndrome de las Piernas Inquietas/tratamiento farmacológicoRESUMEN
OBJECTIVE: Sometimes during surgery for meralgia paresthetica, it can be difficult to find the lateral femoral cutaneous nerve (LFCN). The aims of this study were to study the prevalence of different anatomical variations in patients, compare preoperative ultrasound (US) data with intraoperative findings, and investigate the effect of type of anatomical variation on duration of surgery and success rate of localizing the LFCN. METHODS: Fifty-four consecutive patients with idiopathic meralgia paresthetica who underwent either a neurolysis or neurectomy procedure were included. All patients preoperatively underwent US of the LFCN. Anatomical variations were categorized into type A, B, C, D, and E using the classification of Aszmann and Dellon. The cross-sectional area of the LFCN at the inguinal ligament and the distance of the LFCN to the anterior superior iliac spine were noted. Correlations with intraoperative findings were investigated, as well as the effect on duration of surgery and success rate of finding the LFCN. Clinical outcome was assessed using the Likert scale. RESULTS: The most frequent anatomical variant was type B (79%), followed by type C (9%), D (5%), and E (7%). No type A was encountered. Correlation between preoperative US and intraoperative findings was 100%. During surgery, the LFCN could be identified in all cases. Duration of surgery did not significantly vary for the different anatomical variants. CONCLUSIONS: Preoperative US is reliable in detecting anatomical variations of LFCN. This information can be very helpful in identifying the LFCN more frequently and easily during surgery, especially in more medial variants.
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Nervio Femoral/anomalías , Nervio Femoral/diagnóstico por imagen , Cuidados Preoperatorios/métodos , Ultrasonografía/métodos , Adulto , Femenino , Neuropatía Femoral/terapia , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: There is still debate in the literature on the existence of the arcade of Struthers and moreover the potential role of this structure to cause compression of the ulnar nerve. CASE DESCRIPTION: In this article we present a patient with ulnar neuropathy caused by a muscular arcade of Struthers, which was detected preoperatively using ultrasound. Symptoms completely recovered following decompression of the nerve by transection of this muscular arcade. CONCLUSIONS: This case demonstrates that a muscular arcade of Struthers can cause symptoms of ulnar neuropathy. Ultrasound in this case proved to be helpful in the preoperative workup, clearly demonstrating this unusual site of compression.
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Músculo Esquelético/diagnóstico por imagen , Síndromes de Compresión Nerviosa/diagnóstico por imagen , Tendones/diagnóstico por imagen , Neuropatías Cubitales/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/anomalías , Síndromes de Compresión Nerviosa/etiología , Síndromes de Compresión Nerviosa/cirugía , Tendones/anomalías , Neuropatías Cubitales/etiología , Neuropatías Cubitales/cirugíaRESUMEN
This article provides an updated practical guide for the treatment of primary restless legs syndrome (RLS). Articles that appeared after the American Academy of Neurology guideline search were reviewed according to the same evidence rating schedule. We found limited evidence for nonpharmacologic treatment options. In moderate to severe primary RLS, pharmacologic options may be considered, including iron suppletion, an α2δ ligand, a dopamine agonist, a combination of an α2δ ligand and a dopamine agonist, or oxycodone/naloxone. This article includes treatment options in case of augmentation.
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Agonistas de Dopamina/uso terapéutico , Síndrome de las Piernas Inquietas/terapia , Humanos , Síndrome de las Piernas Inquietas/tratamiento farmacológicoRESUMEN
This article provides an updated practical guide for the treatment of primary restless legs syndrome (RLS). Articles that appeared after the American Academy of Neurology guideline search were reviewed according to the same evidence rating schedule. We found limited evidence for nonpharmacologic treatment options. In moderate to severe primary RLS, pharmacologic options may be considered, including iron suppletion, an α2δ ligand, a dopamine agonist, a combination of an α2δ ligand and a dopamine agonist, or oxycodone/naloxone. This article includes treatment options in case of augmentation.
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Síndrome de las Piernas Inquietas/tratamiento farmacológico , Síndrome de las Piernas Inquietas/terapia , Analgésicos Opioides/uso terapéutico , Agonistas de Dopamina/uso terapéutico , Antagonistas de Aminoácidos Excitadores/uso terapéutico , HumanosRESUMEN
Inadequate sleep impairs cognitive function and has been associated with worse academic achievement in higher education students; however, studies that control for relevant background factors and include knowledge on sleep hygiene are scarce. This study examined the association of chronic sleep reduction (i.e. symptoms of chronic sleep reduction such as shortness of sleep, sleepiness and irritation), subjective sleep quality and sleep hygiene knowledge with academic achievement (grades and study credits) and study concentration among 1378 higher education students (71% female, mean age 21.73 years, SD = 3.22) in the Netherlands. Demographic, health, lifestyle and study behaviour characteristics were included as covariates in hierarchical regression analyses. After controlling for significant covariates, only chronic sleep reduction remained a significant predictor of lower grades (last exam, average in current academic year). Better sleep quality and sleep hygiene knowledge were associated with better academic achievement, but significance was lost after controlling for covariates, except for a remaining positive association between sleep hygiene beliefs and grades in the current academic year. Moreover, better sleep quality and lower scores on chronic sleep reduction were associated with better study concentration after controlling for significant covariates. To conclude, chronic sleep reduction is associated with academic achievement and study concentration in higher education students. Inadequate sleep hygiene knowledge is moderately associated with worse academic achievement. Future research should investigate whether sleep hygiene interventions improve academic achievement in students of higher education.
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Éxito Académico , Privación de Sueño/epidemiología , Privación de Sueño/psicología , Higiene del Sueño/fisiología , Estudiantes/psicología , Adolescente , Adulto , Femenino , Humanos , Estilo de Vida , Masculino , Persona de Mediana Edad , Países Bajos/epidemiología , Autoinforme , Sueño/fisiología , Privación de Sueño/fisiopatología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/fisiopatología , Trastornos del Inicio y del Mantenimiento del Sueño/psicología , Adulto JovenRESUMEN
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons. We validated almost all genes genetically, assessed damaging effects of the gene variants in cell models and further consolidated a role for several of these genes in the aetiology of spinocerebellar ataxia through network analysis. Our work links spinocerebellar ataxia to alterations in synaptic transmission and transcription regulation, and identifies these as the main shared mechanisms underlying the genetically diverse spinocerebellar ataxia types.
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Redes Reguladoras de Genes/genética , Ataxias Espinocerebelosas/genética , Animales , Células COS , Cadherinas/genética , Chlorocebus aethiops , Proteína p300 Asociada a E1A/genética , Exoma/genética , Femenino , Células HEK293 , Humanos , Cinesinas/genética , Masculino , Linaje , Fosfolipasa D/genética , Plásmidos , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN , TransfecciónRESUMEN
OBJECTIVES: Migraine is a suggested risk factor for aneurysmal subarachnoid hemorrhage (aSAH). An increased risk of aSAH in migraineurs may be explained by an increased prevalence of unruptured intracranial aneurysms (UIA). We performed a case-control study to compare lifetime migraine prevalence in patients with UIA, patients with a history of transient ischemic attact (TIA) or ischemic stroke and controls without a history of aSAH, TIA or ischemic stroke. MATERIALS AND METHODS: Patients with UIA were recruited from two university hospitals. Data on patients with TIA/stroke were retrieved from a previous study. Partners of patients with UIA or TIA/stroke were included as controls. Migraine history was assessed via a telephone interview based on the International Classification of Headache Disorders, second edition criteria. We calculated odds ratios (OR) for migraine with univariable and multivariable logistic regression analyses, adjusted for age, sex, hypertension and smoking. RESULTS: We included 172 patients with UIA, 221 patients with TIA or stroke, and 164 controls. In UIA patients, migraine prevalence was 24.4% compared with 14.6% in controls (UIA vs. controls; OR 1.9; 95% confidence interval [CI] 1.1-3.5) and 22.2% in TIA/stroke patients (UIA vs. TIA/stroke; OR 1.1; 95% CI 0.7-1.8). After adjustments, the OR for migraine in UIA patients versus controls were 1.7 (95% CI 1.0-3.1) and 0.9 (95% CI 0.5-1.0) versus TIA/stroke. Results were comparable for migraine with and without aura. CONCLUSIONS: Migraine prevalence is possibly increased in patients with UIA compared with controls and comparable with the prevalence in patients with TIA or stroke. Further studies are needed to confirm our findings and to investigate the underlying pathophysiology.
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Aneurisma Intracraneal/epidemiología , Trastornos Migrañosos/epidemiología , Anciano , Estudios de Casos y Controles , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Países Bajos/epidemiología , Prevalencia , Estudios Prospectivos , Factores de RiesgoRESUMEN
OBJECT: Patients with familial intracranial aneurysms (IA) have a higher risk of rupture than patients with sporadic IA. We compared geometric and morphological risk factors for aneurysmal rupture between patients with familial and sporadic aneurysmal subarachnoid hemorrhage (aSAH) to analyse if these risk factors contribute to the increased rupture rate of familial IA. METHODS: Geometric and morphological aneurysm characteristics were studied on CT-angiography in a prospectively collected series of patients with familial and sporadic aSAH, admitted between September 2006 and September 2009, and additional patients with familial aSAH retrieved from the prospectively collected database of familial IA patients of our center. Odds ratios (OR) with corresponding 95% confidence intervals (95% CI) were calculated to compare the aneurysm characteristics between patients with familial and sporadic aSAH. RESULTS: We studied 67 patients with familial and 184 with sporadic aSAH. OR's for familial compared with sporadic aSAH were for oval shape 1.16(95%CI:0.65-2.09), oblong shape 0.26(95%CI:0.03-2.13), irregular shape 0.83(95%CI:0.47-1.49), aspect ratio ≥ 1.6 0.94(95%CI:0.54-1.66), contact with the perianeurysmal environment (PAE) 1.15(95%CI:0.56-2.40), deformation by the PAE 1.05(95%CI:0.47-2.35) and for dominance of the posterior communicating artery (PCoA) in case of PCoA aneurysms 1.97(95% CI:0.50-7.83). CONCLUSIONS: The geometric and morphological risk factors for aneurysm rupture do not have a higher prevalence in familial than in sporadic aSAH and thus do not explain the increased risk of IA rupture in patients with familial IA. We recommend further search for other potential risk factors for rupture of familial IA, such as genetic factors.
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Aneurisma Roto/diagnóstico por imagen , Angiografía Cerebral/métodos , Aneurisma Intracraneal/diagnóstico por imagen , Hemorragia Subaracnoidea/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Hipertensión/complicaciones , Aneurisma Intracraneal/etiología , Aneurisma Intracraneal/patología , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Estudios Prospectivos , Factores de Riesgo , Fumar/efectos adversos , Adulto JovenRESUMEN
OBJECTIVE: To determine the sensitivity, specificity and the positive and negative predictive value of taking a detailed sleep history for making the diagnosis of psychophysiological insomnia. DESIGN: Retrospective case file study. METHOD: We examined 767 patients referred to the Amsterdam Centre for Sleep and Wake Disorders, and who underwent polysomnography for the first time between 1 January and 31 December 2010. We compared the probable diagnosis made following history-taking with the final diagnosis made after polysomnography. In this we differentiated between organic and non-organic insomnia. The sensitivity, specificity, positive and negative predictive values of the sleep history were calculated. RESULTS: In 24.8% of the 303 patients whose histories did not indicate organic insomnia, polysomnography showed there to be an organic cause. Primary causes were obstructive sleep apnoea (13.2%), upper airway resistance syndrome (5.4%), and periodic limb movement disorder (4.0%) or a combination of these. In the histories of 464 patients there were indications that the insomnia had an organic cause and in 325 of them this was confirmed by polysomnography. The sensitivity of detailed history taking to psychophysiological insomnia was 62.1%, the specificity 81.3%, the positive predictive value was 75.2% and the negative predictive value was 70.0%. In patients under the age of 40 with a score on the Epworth sleepiness scale < 10 (i.e. no hypersomnolence), a BMI < 25 kg/m2 and indications of psychophysiological insomnia, organic insomnia could not be demonstrated, with the exception of one parasomnia. CONCLUSION: History-taking only meant that the organic cause was missed in a substantial percentage of patients with insomnia, in particular in older patients with hypersomnolence and a high BMI.
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Polisomnografía/estadística & datos numéricos , Trastornos del Inicio y del Mantenimiento del Sueño/etiología , Adulto , Índice de Masa Corporal , Trastornos de Somnolencia Excesiva/diagnóstico , Femenino , Humanos , Masculino , Anamnesis , Persona de Mediana Edad , Polisomnografía/normas , Estudios Retrospectivos , Sensibilidad y Especificidad , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Trastornos del Inicio y del Mantenimiento del Sueño/diagnóstico , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/diagnósticoRESUMEN
BACKGROUND AND PURPOSE: Knowledge about risk factors contributes to understanding the pathophysiological mechanisms that cause intracranial aneurysm rupture and helps to develop possible treatment strategies. We aimed to study lifestyle and personal characteristics as risk factors for the rupture of intracranial aneurysms. METHODS: We performed a case-control study with 250 patients with an aneurysmal subarachnoid hemorrhage and 206 patients with an unruptured intracranial aneurysm. All patients with an aneurysmal subarachnoid hemorrhage and patients with a unruptured intracranial aneurysm were asked to fill in a structured questionnaire about their lifestyle and medical history. For patients with an unruptured intracranial aneurysm, we also collected data on the indication for imaging. With logistic regression analysis, we identified independent risk factors for aneurysmal rupture. RESULTS: Reasons for imaging in patients with an unruptured intracranial aneurysm were atherosclerotic disease (23%), positive family history (18%), headache (8%), preventive screening (3%), and other (46%). Factors that increased risk for aneurysmal rupture were smoking (odds ratio, 1.9; 95% confidence interval, 1.2-3.0) and migraine (2.4; 1.1-5.1); hypercholesterolemia decreased this risk (0.4; 0.2-1.0), whereas a history of hypertension did not independently influence the risk. CONCLUSIONS: Smoking, migraine and, inversely, hypercholesterolemia are independent risk factors for aneurysmal rupture. Data from the questionnaire are insufficient to conclude whether hypercholesterolemia or its treatment with statins exerts a risk-reducing effect. The pathophysiological mechanisms through which smoking and migraine increase the risk of aneurysmal rupture should be investigated in further studies. Although a history of hypertension does not increase risk of rupture, a sudden rise in blood pressure might still trigger aneurysmal rupture.
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Aneurisma Roto/etiología , Aterosclerosis/complicaciones , Aneurisma Intracraneal/complicaciones , Trastornos Migrañosos/complicaciones , Fumar/efectos adversos , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
BACKGROUND AND PURPOSE: Three percent of the population has an unruptured intracranial aneurysm (UIA). We aimed to identify independent risk factors from lifestyle and medical history for the presence of UIAs and to investigate the combined effect of well-established risk factors. METHODS: We studied 206 patients with an UIA who never had a subarachnoid hemorrhage and 574 controls who were randomly retrieved from general practitioner files. All participants filled in a questionnaire on potential risk factors for UIAs. With logistic regression analysis, we identified independent risk factors for UIA and assessed their combined effect. RESULTS: Independent risk factors were current smoking (odds ratio [OR], 3.0; 95% confidence interval [CI], 2.0-4.5), hypertension (OR, 2.9; 95% CI, 1.9-4.6), family history of stroke other than subarachnoid hemorrhage (OR, 1.6; 95% CI, 1.0-2.5), hypercholesterolemia (OR, 0.5; 95% CI, 0.3-0.9), and regular physical exercise (OR, 0.6; 95% CI, 0.3-0.9). The joint risk of smoking and hypertension was higher (OR, 8.3; 95% CI, 4.5-15.2) than the sum of the risks independently. CONCLUSIONS: Current smoking, hypertension, and family history of stroke increase the risk of UIA, with smoking and hypertension having an additive effect, whereas hypercholesterolemia and regular physical exercise decrease this risk. A healthy lifestyle probably reduces the risk of UIA and thereby possibly also that of aneurysmal subarachnoid hemorrhage. Whether smoking and hypertension increase the risk of aneurysmal subarachnoid hemorrhage only through an increased risk of aneurysm formation or also through an increased risk of rupture remains to be established.
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Hipertensión/diagnóstico , Aneurisma Intracraneal/diagnóstico , Aneurisma Intracraneal/etiología , Fumar , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Hipertensión/patología , Estilo de Vida , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Análisis de Regresión , Riesgo , Factores de Riesgo , Accidente Cerebrovascular , Encuestas y CuestionariosRESUMEN
OBJECTIVE: The overall incidence of aneurysmal subarachnoid haemorrhage (aSAH) in western populations is around 9 per 100 000 person-years, which confers to a lifetime risk of around half per cent. Risk factors for aSAH are usually expressed as relative risks and suggest that absolute risks vary considerably according to risk factor profiles, but such estimates are lacking. We aimed to estimate incidence and lifetime risks of aSAH according to risk factor profiles. METHODS: We used data from 250 patients admitted with aSAH and 574 sex-matched and age-matched controls, who were randomly retrieved from general practitioners files. We determined independent prognostic factors with multivariable logistic regression analyses and assessed discriminatory performance using the area under the receiver operating characteristic curve. Based on the prognostic model we predicted incidences and lifetime risks of aSAH for different risk factor profiles. RESULTS: The four strongest independent predictors for aSAH, namely current smoking (OR 6.0; 95% CI 4.1 to 8.6), a positive family history for aSAH (4.0; 95% CI 2.3 to 7.0), hypertension (2.4; 95% CI 1.5 to 3.8) and hypercholesterolaemia (0.2; 95% CI 0.1 to 0.4), were used in the final prediction model. This model had an area under the receiver operating characteristic curve of 0.73 (95% CI 0.69 to 0.76). Depending on sex, age and the four predictors, the incidence of aSAH ranged from 0.4/100 000 to 298/100 000 person-years and lifetime risk between 0.02% and 7.2%. CONCLUSIONS: The incidence and lifetime risk of aSAH in the general population varies widely according to risk factor profiles. Whether persons with high risks benefit from screening should be assessed in cost-effectiveness studies.
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Hemorragia Subaracnoidea/etiología , Estudios de Casos y Controles , Femenino , Humanos , Hipercolesterolemia/complicaciones , Hipertensión/complicaciones , Incidencia , Modelos Logísticos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Fumar/efectos adversos , Hemorragia Subaracnoidea/epidemiología , Hemorragia Subaracnoidea/genéticaRESUMEN
Female gender, age above 60 years, and an aneurysm larger than 5 mm or location on the posterior circulation are associated with a higher rupture risk of intracranial aneurysms. We hypothesized that this association is explained by a higher susceptibility to (one of) the eight trigger factors that were recently identified. We included 250 patients with aneurysmal subarachnoid hemorrhage. We calculated relative risks (RR) with 95% confidence intervals (95% CI) of aneurysmal rupture for trigger factors according to sex, age, site, and size of the aneurysms by means of the case-crossover design. None of the triggers except for physical exercise differed according to patient and aneurysm characteristics. In the hour after exposure to physical exercise: (1) patients over the age of 60 have a six-times-higher risk of rupture (RR 13; 95% CI 6.3-26) than those of 60 years of age and under (RR 2.3; 1.3-4.1); (2) aneurysms at the internal carotid artery have a higher risk than those at other locations (RR 17; 7.8-37), but this was only statistically significant when compared to anterior communicating artery aneurysms (RR 3.2; 1.6-6.1); (3) aneurysms 5 mm or smaller had a higher risk of rupture (RR 9.5; 4.6-19) than larger aneurysms (RR 2.4; 1.3-4.3); and (4) women and men had similar risks. A higher susceptibility to exercise might explain part of the higher risk of rupture in older patients. Why women and patients with aneurysms larger than 5 mm or posterior circulation aneurysms have a higher risk of rupture remains to be settled.
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Aneurisma Roto/epidemiología , Aneurisma Intracraneal/epidemiología , Hemorragia Subaracnoidea/epidemiología , Factores de Edad , Aneurisma Roto/complicaciones , Aneurisma Roto/patología , Intervalos de Confianza , Estudios Cruzados , Femenino , Humanos , Aneurisma Intracraneal/complicaciones , Persona de Mediana Edad , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Hemorragia Subaracnoidea/etiologíaRESUMEN
BACKGROUND: Unruptured intracranial aneurysms (UIAs) are increasingly detected and are an important health-care burden. We aimed to assess the prevalence of UIAs according to family history, comorbidity, sex, age, country, and time period. METHODS: Through searches of PubMed, Embase, and Web of Science we updated our 1998 systematic review up to March, 2011. We calculated prevalences and prevalence ratios (PRs) with random-effects binomial meta-analysis. We assessed time trends with year of study as a continuous variable. FINDINGS: We included 68 studies, which reported on 83 study populations and 1450 UIAs in 94â912 patients from 21 countries. The overall prevalence was estimated as 3·2% (95% CI 1·9-5·2) in a population without comorbidity, with a mean age of 50 years, and consisting of 50% men. Compared with populations without the comorbidity, PRs were 6·9 (95% CI 3·5-14) for autosomal dominant polycystic kidney disease (ADPKD), 3·4 (1·9-5·9) for a positive family history of intracranial aneurysm of subarachnoid haemorrhage, 3·6 (0·4-30) for brain tumour, 2·0 (0·9-4·6) for pituitary adenoma, and 1·7 (0·9-3·0) for atherosclerosis. The PR for women compared with men was 1·61 (1·02-2·54), with a ratio of 2·2 (1·3-3·6) in study populations with a mean age of more than 50 years. Compared with patients older than 80 years, we found no differences by age, except for patients younger than 30 years (0·01, 0·00-0·12). Compared with the USA, PRs were similar for other countries, including Japan (0·8, 0·4-1·7) and Finland (1·0, 0·4-2·4). There was no statistically significant time trend. INTERPRETATION: The prevalence of UIAs is higher in patients with ADPKD or a positive family history of intracranial aneurysm of subarachnoid haemorrhage than in people without comorbidity. In Finland and Japan, the higher incidence of subarachnoid haemorrhage is not explained by a higher prevalence of UIAs, implicating higher risks of rupture. FUNDING: Julius Centre for Health Sciences and Primary Care and Department of Neurology and Neurosurgery, University Medical Centre, Utrecht.
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Aneurisma Intracraneal/epidemiología , Adulto , Factores de Edad , Comorbilidad , Femenino , Humanos , Masculino , Prevalencia , Factores de Riesgo , Factores SexualesRESUMEN
BACKGROUND AND PURPOSE: Little is known about activities that trigger rupture of an intracranial aneurysm. Knowledge on what triggers aneurysmal rupture increases insight into the pathophysiology and facilitates development of prevention strategies. We therefore aimed to identify and quantify trigger factors for aneurysmal rupture and to gain insight into the pathophysiology. METHODS: During a 3-year period, 250 patients with aneurysmal subarachnoid hemorrhage completed a structured questionnaire regarding exposure to 30 potential trigger factors in the period soon before subarachnoid hemorrhage (hazard period) and for usual frequency and intensity of exposure. We assessed relative risks (RR) of rupture after exposure to triggers with the case-crossover design comparing exposure in the hazard period with the usual frequency of exposure. Additionally, we calculated population-attributable risks. RESULTS: Eight triggers increased the risk for subarachnoid hemorrhage: coffee consumption (RR, 1.7; 95% CI, 1.2-2.4), cola consumption (RR, 3.4; 95% CI,1.5-7.9), anger (RR, 6.3; 95% CI, 4.6-25), startling (RR, 23.3; 95% CI, 4.2-128), straining for defecation (RR, 7.3; 95% CI, 2.9-19), sexual intercourse (RR, 11.2; 95% CI, 5.3-24), nose blowing (RR, 2.4; 95% CI, 1.3-4.5), and vigorous physical exercise (RR, 2.4; 95% CI, 1.2-4.2). The highest population-attributable risks were found for coffee consumption (10.6%) and vigorous physical exercise (7.9%). CONCLUSIONS: We identified and quantified 8 trigger factors for aneurysmal rupture. All triggers induce a sudden and short increase in blood pressure, which seems a possible common cause for aneurysmal rupture. Some triggers are modifiable, and further studies should assess whether reduction of exposure to these factors or measures preventing sudden increase in blood pressure decrease the risk of rupture in patients known to have an intracranial aneurysm.
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Aneurisma Roto/etiología , Aneurisma Roto/prevención & control , Aneurisma Intracraneal/fisiopatología , Hemorragia Subaracnoidea/prevención & control , Anciano , Presión Sanguínea , Café/efectos adversos , Estudios Cruzados , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Riesgo , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus.