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PURPOSE: Aim of this study was to analyse feasibility, safety and effectiveness of laparoscopic transperitoneal hernia repair (TAPP) approach to inguinal hernias in the emergency setting, with a longer follow-up than the studies present in literature. METHODS: We retrospectively analysed all patients who underwent emergency TAPP hernia repair in San Marco Hospital (Zingonia, Italy), from September 2010 to June 2020. A prospectively collected database of 685 consecutive TAPP hernia repair was reviewed. Feasibility and safety were evaluated through operative time, conversion rate, perioperative mortality, morbidity and prosthesis infection rate. Effectiveness was assessed by recurrence and complication rate, acute (during admission) and chronic (during follow-up) pain by Visual Analogic Scale (VAS), and recovery to normal activity in a long-term follow-up (mean period 1718 days). RESULTS: The final study group included 47 patients. The mean age was 59.6 years (range 22-89), 29 patients were male and 18 were female. The mean operation time was 64 min. Two cases were converted to open approach (4%). In four cases bowel resection became necessary (8.5%). Appendicectomy and omentectomy occurred once and twice, respectively (2% and 4%), and orchiectomy was required in two patients (4%). Seroma was the only postoperative complication that we registered in four patients. During a mean follow-up period of 1718 days, there was no recurrence of the hernia or other complications. Five patients referred mild occasional groin pain (VAS < 3), with quick relief without taking any pain killers. CONCLUSION: TAPP approach is a safe, feasible and effective therapeutic option for groin hernias in emergency setting. No recurrence or severe complications were reported in over 4 years of follow-up.
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Hernia Inguinal , Laparoscopía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Hernia Inguinal/etiología , Hernia Inguinal/cirugía , Herniorrafia/efectos adversos , Humanos , Laparoscopía/efectos adversos , Masculino , Persona de Mediana Edad , Dolor/etiología , Estudios Retrospectivos , Mallas Quirúrgicas , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Robotic technology for colorectal surgery was introduced by Weber in 2002 to improve the benefits of the minimally invasive surgery already offered by the laparoscopic approach. AIMS: To evaluate the feasibility and the efficacy of the application of robotic surgery in elderly patients affected by colorectal diseases. METHODS: We reported the outcomes obtained during our first 50 colorectal robotic surgical performances with DaVinci Xi® System, and we compared the results assessed for patients younger or older than 70 years. RESULTS: We examined 28 patients younger and 22 older than 70 years who underwent colorectal robotic surgery in our institution from September 2014 to June 2016. We performed 15 right colectomies, 20 left colectomies, 15 rectal resections. Mean ASA score was significantly higher in the Elderly Group. No statistically significant differences have been revealed in terms of post-operative morbidity, hospital stay, first diet intake, first flatus canalization and oncological outcome. DISCUSSION: According to the prolonged operative time, robotic technology was initially reserved to young patients with good performance status in order to avoid systemic failures in elderly patients suffering from pre-existent comorbidities. Otherwise, once robotic approach safety and benefits in terms of better systemic outcomes were demonstrated, it started to be performed in elderly patients with satisfactory outcomes. CONCLUSION: Our experience revealed that robotic surgical approach is safe, feasible and offers many systemic benefits in elderly patients also with high ASA score. Age alone has not to be considered as exclusion criteria for robotic approach.
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Colectomía , Neoplasias Colorrectales/cirugía , Laparoscopía , Procedimientos Quirúrgicos Robotizados , Anciano , Colectomía/efectos adversos , Colectomía/métodos , Estudios de Factibilidad , Femenino , Humanos , Laparoscopía/efectos adversos , Laparoscopía/métodos , Tiempo de Internación , Masculino , Tempo Operativo , Evaluación de Procesos y Resultados en Atención de Salud , Ajuste de Riesgo , Procedimientos Quirúrgicos Robotizados/efectos adversos , Procedimientos Quirúrgicos Robotizados/instrumentación , Procedimientos Quirúrgicos Robotizados/métodosRESUMEN
AIM: Surgical resection usually represents the treatment of choice for solitary hepatocellular carcinoma (HCC) in cirrhotic patients, with well preserved liver function; local ablative strategies are the best treatment option for patients with small tumors who are not candidates for surgical resection or liver transplantation. Several studies showed that percutaneous radiofrequency ablation (RFA) has similar efficacy to surgical nodulectomy in the treatment of early-stage HCC, and is associated with lower complication rates and costs than resection. The aim of this study was to compare the effectiveness of these treatments, in terms of morbidity, overall survival, tumor recurrence and causes of death. METHODS: Between January 2006 and January 2012 we observed 176 patients affected by HCC, 84 underwent curative treatment. The 40 patients presenting single HCC nodes smaller than 3 cm in diameter have been treated with radiofrequency-assisted surgical nodulectomy (N.=20) or with percutaneous radiofrequency (N.=20). RESULTS: No perioperative mortality occurred in the two groups. Perioperative morbidity was 5% in group A (1 case of peritoneal bleeding) and 5% in group B (1 case of hepatic abscess). Disease-free survival was slightly higher in surgically treated patients, but not statistically significative differences have been demonstrated (P<0.06); no local recurrences were observed in surgically treated patients. CONCLUSION: RF and surgical nodulectomy can be either used in treatment of early stage hepatocellular carcinoma; no differences in terms of morbidity, overall and disease free survival were observed; nodulectomy seems to prevent from tumor local recurrence.
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Carcinoma Hepatocelular/cirugía , Ablación por Catéter/métodos , Neoplasias Hepáticas/cirugía , Anciano , Anciano de 80 o más Años , Carcinoma Hepatocelular/patología , Supervivencia sin Enfermedad , Femenino , Humanos , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana EdadRESUMEN
Sleep bruxism (SB) is a sleep-related movement disorder, characterized by tooth grinding and/or clenching. The causes of SB range from psychosocial factors to an excessive sleep arousal response. Some studies showed that SB episodes during sleep are under the influences of transient activity of the brainstem arousal. Nocturnal groaning (NG) is a parasomnia characterized by an expiratory monotonous vocalization occurring during sleep, especially in REM sleep and during the second half of the night. The pathogenesis of NG remains still unclear and many hypotheses arose, ranging from the persistence of a vestigial ventilatory pattern rather than an expiratory upper airways' obstruction. Sleep microstructure fluctuation might modulate the NG, since the end of the NG episode usually is synchronized with a cortical arousal and an autonomic activation. Further studies should clarify the pathophysiology of SB and NG, especially when the two phenomena are associated.
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Fonación , Bruxismo del Sueño/fisiopatología , Sueño REM/fisiología , Catatonia/complicaciones , Humanos , Bruxismo del Sueño/diagnóstico , Bruxismo del Sueño/epidemiología , Conducta EstereotipadaRESUMEN
The photodissociation dynamics of pyrrole-ammonia clusters (PyH·(NH(3))(n), n = 2-6) has been studied using a combination of velocity map imaging and non-resonant detection of the NH(4)(NH(3))(n-1) products. The excited state hydrogen-atom transfer mechanism (ESHT) is evidenced through delayed ionization and presents a threshold around 236.6 nm, in agreement with previous reports. A high resolution determination of the kinetic energy distributions (KEDs) of the products reveals slow (â¼0.15 eV) and structured distributions for all the ammonia cluster masses studied. The low values of the measured kinetic energy rule out the existence of a long-lived intermediate state, as it has been proposed previously. Instead, a direct N-H bond rupture, in the fashion of the photodissociation of bare pyrrole, is proposed. This assumption is supported by a careful analysis of the structure of the measured KEDs in terms of a discrete vibrational activity of the pyrrolyl co-fragment.
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Amoníaco/química , Hidrógeno/química , Pirroles/química , Cinética , Fotólisis , TermodinámicaRESUMEN
Lifetimes of the first electronic excited state (S(1)) of fluorine and methyl (o-, m-, and p-) substituted phenols and their complexes with one ammonia molecule have been measured for the 0(0) transition and for the intermolecular stretching σ(1) levels in complexes using picosecond pump-probe spectroscopy. Excitation energies to the S(1) (ππ*) and S(2) (πσ*) states are obtained by quantum chemical calculations at the MP2 and CC2 level using the aug-cc-pVDZ basis set for the ground-state and the S(1) optimized geometries. The observed lifetimes and the energy gaps between the ππ* and πσ* states show a good correlation, the lifetime being shorter for a smaller energy gap. This propensity suggests that the major dynamics in the excited state concerns an excited state hydrogen detachment or transfer (ESHD/T) promoted directly by a S(1)/S(2) conical intersection, rather than via internal conversion to the ground-state. A specific shortening of lifetime is found in the o-fluorophenol-ammonia complex and explained in terms of the vibronic coupling between the ππ* and πσ* states occurring through the out-of-plane distortion of the C-F bond.
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This study evaluates the effectiveness of maxillo-mandibular advancement (MMA) in patients with obstructive sleep apnea syndrome (OSAS), even those without skeletal anomalies, indicating the possibility of extending this procedure to more patients. Two groups with different skeletal patterns were studied pre- and post-surgery. Group 1 (11 patients) had severe or moderate OSAS and maxillo-mandibular hypoplasia and/or mandibular deformities (SNA angle 78 degrees or less or SNA angle>78 degrees but with SNB<65 degrees and severe skeletal class II malocclusion). Group 2 (11 patients) had severe or moderate OSAS without maxillo-mandibular hypoplasia or deformity (SNA angle>80 degrees , dental class I occlusion). Analysis comprised: apnea hypopnea index (AHI), posterior airway space (PAS), SNA and SNB angles, Epworth sleepiness scale (ESS), body mass index (BMI), and a subjective standardized questionnaire about aesthetic appearance. All patients had increased PAS width and complete remission of objective and subjective OSAS symptoms evaluated by AHI and ESS. Results in both groups are comparable. Data were analysed using t-test; p<0.005 was statistically significant. All patients were satisfied with the functional and aesthetic results. MMA is effective in patients with severe or moderate OSAS, even in those without skeletal and/or occlusal anomalies and can be considered in more patients.
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Avance Mandibular , Maxilar/cirugía , Faringe/anatomía & histología , Apnea Obstructiva del Sueño/cirugía , Adulto , Cefalometría , Mentón/cirugía , Femenino , Humanos , Técnicas de Fijación de Maxilares/instrumentación , Masculino , Maloclusión Clase II de Angle/complicaciones , Maloclusión Clase II de Angle/cirugía , Micrognatismo/complicaciones , Micrognatismo/cirugía , Persona de Mediana Edad , Nariz/cirugía , Satisfacción del Paciente , Faringe/diagnóstico por imagen , Radiografía , Estudios Retrospectivos , Apnea Obstructiva del Sueño/complicaciones , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
VacA toxin is one of the most important virulence factors produced by H. pylori even though neither its role nor its action mechanisms are completely understood. First considered as a toxin inducing only cell vacuolation, VacA causes apoptosis of gastric epithelial cells by targeting mitochondria. A hotly debated question about VacA action is its relationship with ammonia, which is produced in vivo by H. pylori urease. While ammonia is strictly required for VacA-dependent vacuolation, its role in VacA-induced apoptosis is much less defined. This study was thus aimed to investigate the relationship between VacA toxin and ammonia in H. pylori-induced mitochondrial damage and apoptosis of human gastric epithelial cells in culture by means of flow cytometry. Our results show that, unlike cell vacuolation, in MKN 28 cells neither apoptosis nor dissipation of mitochondrial transmembrane potential induced by VacA require ammonia. Nevertheless, ammonia significantly potentiates both these VacA-induced effects, but independently of the swelling of VacA-containing endosomes (i.e., vacuolation). Our findings make unlikely the hypothesis that ammonia-dependent swelling and rupture of endosomal vesicles in which VacA is sequestered after cell internalization may allow the toxin to reach mitochondria and trigger apoptosis.
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Amoníaco/metabolismo , Apoptosis , Proteínas Bacterianas/metabolismo , Células Epiteliales/microbiología , Helicobacter pylori/patogenicidad , Estómago/microbiología , Técnicas de Cultivo de Célula , Línea Celular Tumoral , Células Epiteliales/metabolismo , Células Epiteliales/patología , Citometría de Flujo , Mucosa Gástrica/metabolismo , Helicobacter pylori/metabolismo , Humanos , Potencial de la Membrana Mitocondrial , Microscopía de Contraste de Fase , Mitocondrias/metabolismo , Mitocondrias/microbiología , Mitocondrias/patología , Estómago/patología , Vacuolas/metabolismo , Vacuolas/microbiología , Vacuolas/patologíaRESUMEN
REM sleep behaviour disorder (RBD) is a parasomnia characterised by nocturnal complex motor activity associated with dream mentation. RBD, which affects mainly older men, may be idiopathic or associated with other neurological disorders. A strong association between RBD and alpha-synucleinopathies has been recently observed, with the parasomnia often heralding the clinical onset of the neurodegenerative disease. The idiopathic form accounts for up to 60% of the cases reported in the three largest series of RBD patients. Follow-up studies in small samples revealed that a proportion of RBD patients will eventually develop Parkinson's disease and/or a dementia of Lewy bodies type in the years following the RBD diagnosis. Recently, neurophysiological and neuropsychological studies in idiopathic RBD have found evidence of central nervous system dysfunction. An impairment of cortical activity, specific neuropsychological deficits, signs of autonomic dysfunction and olfactory impairment have been observed in these patients, challenging the concept of idiopathic RBD. The detection of early markers of neurodegenerative disorders in idiopathic RBD, and the evaluation of their value by the combined application in prospective studies may be crucial for developing early intervention strategies.
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Sueños , Enfermedades Neurodegenerativas/fisiopatología , Parasomnias del Sueño REM/fisiopatología , Sueño , Vigilia , Agresión , Encéfalo/fisiopatología , Estudios de Casos y Controles , Sueños/psicología , Electroencefalografía , Femenino , Humanos , Masculino , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/psicología , Pruebas Neuropsicológicas , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/etiología , Parasomnias del Sueño REM/psicología , TemperamentoRESUMEN
We describe the clinical and polysomnographic characteristics of 12 patients complaining of expiratory groaning during sleep. Groaning occurred almost exclusively during rapid eye movement sleep. We reviewed all the literature cases, obtaining a total sample of 27 patients. There is no evident association with any predisposing factors or underlying disease. The results obtained from empirical treatment, including drugs and CPAP, are unsatisfactory. The origins of nocturnal groaning, as well as the long-term prognosis, remained unexplained.
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Ritmo Circadiano , Parasomnias/diagnóstico , Voz/fisiología , Adolescente , Adulto , Electrocardiografía , Electroencefalografía , Electromiografía , Femenino , Humanos , Masculino , Parasomnias/genética , Linaje , Polisomnografía , Sueño REM/fisiologíaRESUMEN
OBJECTIVE: To evaluate the cognitive performance of patients with idiopathic REM sleep behavior disorder (RBD). METHODS: The authors studied 17 consecutive patients with idiopathic RBD vs 17 age- and education-matched control subjects. Tests given to each patient and control included Mini-Mental State Examination, verbal and spatial short-term memory, visual selective attention, verbal fluency, prose memory, visuoconstructional abilities, spatial learning, and executive function tests. A self-administered depression rating scale was also used. RESULTS: RBD patients had significantly lower scores than control subjects in two tests: copy of Rey-Osterrieth Figure and Corsi Supraspan Learning. No correlation was found between the results of neuropsychological tests and RBD duration or with polysomnographic findings. CONCLUSIONS: Visuospatial constructional dysfunction and altered visuospatial learning may be present in idiopathic RBD. A neuropsychological assessment may be indicated in RBD patients.
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Trastornos del Conocimiento/diagnóstico , Pruebas Neuropsicológicas/estadística & datos numéricos , Trastorno de la Conducta del Sueño REM/diagnóstico , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/complicaciones , Electroencefalografía , Electromiografía , Femenino , Humanos , Aprendizaje , Masculino , Persona de Mediana Edad , Polisomnografía , Trastorno de la Conducta del Sueño REM/complicaciones , Valores de Referencia , Percepción Espacial , Terminología como AsuntoAsunto(s)
Arterias Carótidas/diagnóstico por imagen , Ecocardiografía Transesofágica , Embolia/complicaciones , Embolia/diagnóstico por imagen , Cardiopatías/complicaciones , Cardiopatías/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Embolia/epidemiología , Femenino , Cardiopatías/epidemiología , Humanos , Masculino , Persona de Mediana Edad , PrevalenciaRESUMEN
PURPOSE: To evaluate with color Doppler imaging (CDI), in patients with primary open-angle glaucoma (PDAG), the possible influence on ocular hemodynamics of a beta-blocking agent with intrinsic sympathomimetic acitivity (carteolol 2%) compared to a beta-blocker agent without this activity. METHODS: A study was carried out on 20 patients, with bilateral POaG, intraocular pressure (IOP) < or = 20 mmHg, all treated twice a day with timolol maleate 0.5% ophthalmic solution. The visual field was evaluated (Octopus 2000 perimeter, G1 program) examining the mean sensitivity (MS) and the mean defect (MD). CDI was carried out to evaluate the resistance index of the internal carotid artery (ICA), the ophthalmic artery (OA), the central retinal artery (CRA), and the short posterior ciliary arteries (SPCA). After these examinations, the therapy was changed to carteolol 2% twice a day. After six months of treatment the examinations were repeated. The data were analysed statistically using Student's t test. RESULTS: The mean intraocular pressure during treatment with timolol 0.5% was 16.7 +/- 1.67 mmHg and 16.33 +/- 1.72 mmHg after treatment with carteolol 2%, the difference not being significant (p=0.494). After six months of treatment with carteolol 2% the MS increased significantly from 22.4 +/- 2.5 dB to 24.1 +/- 1.8 dB (p=0.018), and the mean defect (MD) fell from 5.3 +/- 0.8 dB to 4.7 +/- 0.6 dB (p=0.011). There was no significant difference in the resistance index of the CA, the OA and the CRA with the two treatments, whereas the resistance index of the SPCA dropped significantly, from 0.80 +/- 0.05 to 0.77 +/- 0.02 (p = 0.017). CONCLUSIONS: CDI did not show significant differences in the resistance indexes of the internal CA, the OA, and the CRA after treatment with carteolol 2% but the resistance index of the SPCA was significantly reduced. Carteolol 2% induced significant changes in the perimetric indexes examined, with an increase in MS and a decrease in MD. These findings suggest that the intrinsic sympathomimetic activity of carteolol may reduce peripheral vascular resistance of the SCA, thus improving perfusion of the optic nerve head, with a protective effect on visual function.
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Antagonistas Adrenérgicos beta/uso terapéutico , Carteolol/uso terapéutico , Ojo/irrigación sanguínea , Glaucoma de Ángulo Abierto/tratamiento farmacológico , Glaucoma de Ángulo Abierto/fisiopatología , Timolol/uso terapéutico , Antagonistas Adrenérgicos beta/administración & dosificación , Velocidad del Flujo Sanguíneo , Arteria Carótida Interna/fisiopatología , Carteolol/administración & dosificación , Arterias Ciliares/fisiopatología , Femenino , Hemodinámica/efectos de los fármacos , Humanos , Presión Intraocular , Flujometría por Láser-Doppler , Masculino , Persona de Mediana Edad , Arteria Oftálmica/fisiopatología , Soluciones Oftálmicas , Arteria Retiniana/fisiopatología , Timolol/administración & dosificación , Ultrasonografía Doppler en ColorRESUMEN
BACKGROUND: The role of atrial septal aneurysm (ASA) as a risk factor for cerebral ischemia of unknown etiology is controversial. Recent studies have found an association between ASA and focal ischemic events, while results from other studies suggest a low incidence of embolism in patients with ASA. HYPOTHESIS: The present study was designed to evaluate the frequency of ASA, a minor cardioembolic source, in patients with a recent stroke presenting with normal carotid arteries. METHODS: In all, 394 patients with cerebral ischemic stroke were referred to our institutions. Patients underwent transthracic and transesophageal echocardiography and carotid artery ultrasound examination. The study population included 215 patients without significant arterial disease. Frequency and morphologic characteristics of ASA were evaluated. RESULTS: Transthoracic examination showed ASA in 39 patients (18%), while transesophageal echocardiography showed ASA in 61 patients (28%). A patent foramen ovale was found in 47 patients (21.8%) and was associated with ASA in 40 patients (65.5%). We observed an increased thickness of the aneurysmatic wall (3.80 +/- 1.7 mm) in all patients with ASA. CONCLUSIONS: The present study confirms the relationship between ASA and stroke in patients with normal carotid arteries. The most common abnormality associated with ASA was patent foramen ovale. We suggest that patients who have a stroke in the absence of significant carotid disease undergo transesophageal echocardiography to identify possible underlying septal abnormalities.
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Aneurisma Coronario/diagnóstico por imagen , Defectos del Tabique Interatrial/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Arterias Carótidas/diagnóstico por imagen , Aneurisma Coronario/fisiopatología , Femenino , Defectos del Tabique Interatrial/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Accidente Cerebrovascular/fisiopatología , Factores de Tiempo , UltrasonografíaRESUMEN
BACKGROUND: Atrial septal aneurysm has been considered a potential source of cardiogenic embolism for many years. The present study evaluated the prevalence and characteristics of atrial septal aneurysm in a patient population with stroke and normal carotid arteries compared to a control population without stroke. METHODS: A total of 606 patients were enrolled between November 1990 and December 1996. The study group included 245 patients who had experienced cerebral ischaemic attack but had normal carotid arteries. The control group included 316 age- and sex-matched patients undergoing transoesophageal echocardiography for indications other than a search for a cardiac source of embolism. The prevalence and morphological characteristics of atrial septal aneurysm were evaluated and compared. Results We reported a higher prevalence of atrial septal aneurysm in the group with cerebral ischaemia; 68 patients (27.7%) vs 36 patients (9.9%) from the control group; P<0.001. A patent foramen ovale was detected with contrast injection in 69.2% of the patients with atrial septal aneurysm. Atrial septal aneurysm predicted the presence of a patent foramen ovale (odds ratio of patent foramen ovale 4.2; 95% CI 1.03-9.8). Multivariate analysis showed that atrial septal aneurysm was an independent predictor of an embolic event. In the 95% of patients with atrial septal aneurysm and cerebral ischaemia aged less than 45 years, transoesophageal echocardiography did not detect a source of embolism other than an associated patent foramen ovale. CONCLUSIONS: The prevalence of atrial septal aneurysm in patients with cerebral ischaemia and normal carotid arteries was 27.7%, higher than the control group. Atrial septal aneurysm was frequently associated with patent foramen ovale. In patients less than 45 years old, atrial septal aneurysm was the only potential cardiac source of embolism detected with transoesophageal echocardiography.
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Isquemia Encefálica/etiología , Aneurisma Coronario/complicaciones , Defectos del Tabique Interatrial/complicaciones , Accidente Cerebrovascular/etiología , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/diagnóstico por imagen , Arterias Carótidas , Aneurisma Coronario/diagnóstico por imagen , Ecocardiografía Transesofágica , Femenino , Defectos del Tabique Interatrial/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana EdadRESUMEN
A new polymorphism in intron 1 of the neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) was identified. It consists of a G to T substitution located in the downstream flanking region of a previously reported CA repeat marker. This polymorphism whose frequency is about six percent in a control population occurs near the 3' end of the reverse primer generally used to type the CA repeat marker. Data are presented showing that the newly identified polymorphism causes erroneous genotyping of the CA repeat marker which can alter the results of linkage analysis for CHRNA4. The use of a different reverse primer located 34 nt downstream of the published sequence overcame errors in genotyping and identified two novel alleles of the CA repeat marker. Re-typing of the marker with the new proposed primer pair in a Caucasian control population of 107 unrelated individuals was also performed
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Intrones/genética , Polimorfismo Genético/genética , Receptores Nicotínicos/genética , Secuencias Repetidas en Tándem/genética , Alelos , Secuencia de Bases , Mapeo Cromosómico , Cartilla de ADN/química , Familia , Femenino , Marcadores Genéticos , Genotipo , Haplotipos , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Reacción en Cadena de la PolimerasaRESUMEN
The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the alpha3, alpha5 and beta4 subunits of neuronal nicotinic acetylcholine receptors, has been reported to be linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in one family. However, nor the gene nor the mutation involved have been identified. We report the refined mapping of CHRNA3/A5/B4 cluster. Segregation analyses of CHRNA3/A5/B4 polymorphisms in families showing recombinations for 15q24 G¿en¿ethon STR markers allowed to position the cluster in a 0.6 cM interval, between STRs D15S1027 and D15S1005. This location is external to the 15q24-ADNFLE-linked region, therefore excluding the involvement of this cluster in the pathogenesis of ADNFLE in the 15q24-linked family. Moreover, these data provide more precise information for further linkage studies.
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Cromosomas Humanos Par 15 , Epilepsia del Lóbulo Frontal/genética , Familia de Multigenes , Polimorfismo Genético , Receptores Nicotínicos/genética , Mapeo Cromosómico , Ritmo Circadiano , Consanguinidad , Epilepsia del Lóbulo Frontal/fisiopatología , Femenino , Marcadores Genéticos , Humanos , Masculino , Repeticiones de Microsatélite , Linaje , Subunidades de ProteínaRESUMEN
The authors assessed the presence of brain abnormalities in 21 patients with nocturnal frontal lobe epilepsy (NFLE), using magnetization transfer ratio (MTR) and mean diffusivity (;D) histograms. Compared with healthy volunteers and patients with idiopathic generalized epilepsy, patients with NFLE had lower MTR (p = 0.002 and 0.01) and;D (p = 0.03 and 0.04) histogram peak heights. Subtle and widespread abnormalities related to intra- and extracellular distribution and motion of water are detectable in the brains of patients with NFLE.
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Ritmo Circadiano , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatología , Adolescente , Adulto , Encéfalo/patología , Encéfalo/fisiopatología , Epilepsia del Lóbulo Frontal/patología , Epilepsia Generalizada/patología , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del ObservadorRESUMEN
The electroclinical features of autosomal dominant nocturnal frontal lobe epilepsy have been recently described. Although some patients reported a poor quality of sleep, daytime tiredness, and sleepiness, their sleep macrostructure appeared to be indistinguishable from those of the control group. The aim of this study was to evaluate the macro- and microstructure of sleep in a sample of autosomal dominant nocturnal frontal lobe epilepsy patients, diagnosed by videopolysomnography. The authors selected 16 patients, 8 with daytime complaints (morning tiredness and/or excessive sleepiness) (group 1) and 8 without those complaints (group 2). The classical macrostructure of sleep and the microstructure, according to the cyclic alternating pattern (CAP) scoring rules, were compared with another group of 8 healthy controls. In group 1 the motor attacks during sleep took place more frequently during CAP and were significantly related to phase A of the CAP cycle in comparison to group 2 (P = 0.04). Group 2 had a sleep microstructure similar to the controls, whereas group 1 showed higher CAP/nonrapid eye movement sleep (CAP rate) and a higher number of CAP cycles with respect to controls (P = 0.012 and P = 0.001) and to group 2 (P = 0.05 and P = 0.04). The analysis of sleep microstructure showed an increase in sleep instability in patients with autosomal dominant nocturnal frontal lobe epilepsy and daytime sleep complaints and indicated the relationship between sleep fragmentation, nocturnal motor seizures, and daytime symptoms.