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BACKGROUND AND PURPOSE: The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non-epileptic DV. METHODS: In all, 1000 individuals, 543 healthy controls (C) (313 women; age 40 ± 15 years) and 457 patients with epilepsy (E) (260 women; age 39 ± 14 years), were prospectively recruited from 10 outpatient neurological clinics throughout Italy. All populations were screened using the Italian Inventory for Déjà Vu Experiences Assessment (I-IDEA) test and E and pairwise C underwent a comprehensive epilepsy interview. RESULTS: Of E, 69% stated that they experienced 'recognition' and 13.2% reported that this feeling occurred from a few times a month to at least weekly (versus 7.7% of the control group). Furthermore, a greater percentage of E (6.8% vs. 2.2%) reported that from a few times a month to at least weekly they felt that it seemed as though everything around was not real. In E, the feeling of recognition raised fright (22.3% vs. 13.2%) and a sense of oppression (19.4% vs. 9.4%). A fifth of E felt recognition during epileptic seizures. CONCLUSION: Only E regardless of aetiology firmly answered that they had the feeling of recognition during an epileptic seizure; thus question 14 of the I-IDEA test part 2 discriminated E from C. Paranormal activity, remembering dreams and travel frequency were mostly correlated to DV in E suggesting that the visual-memory network might be involved in epileptic DV.
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Déjà Vu , Epilepsia/fisiopatología , Trastornos Neurocognitivos/fisiopatología , Reconocimiento en Psicología/fisiología , Adulto , Estudios de Cohortes , Epilepsia/complicaciones , Epilepsia/epidemiología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/epidemiología , Trastornos Neurocognitivos/etiologíaRESUMEN
The International League against Epilepsy (ILAE) proposed a diagnostic scheme for psychogenic non-epileptic seizure (PNES). The debate on ethical aspects of the diagnostic procedures is ongoing, the treatment is not standardized and management might differ according to age group. The objective was to reach an expert and stakeholder consensus on PNES management. A board comprising adult and child neurologists, neuropsychologists, psychiatrists, pharmacologists, experts in forensic medicine and bioethics as well as patients' representatives was formed. The board chose five main topics regarding PNES: diagnosis; ethical issues; psychiatric comorbidities; psychological treatment; and pharmacological treatment. After a systematic review of the literature, the board met in a consensus conference in Catanzaro (Italy). Further consultations using a model of Delphi panel were held. The global level of evidence for all topics was low. Even though most questions were formulated separately for children/adolescents and adults, no major age-related differences emerged. The board established that the approach to PNES diagnosis should comply with ILAE recommendations. Seizure induction was considered ethical, preferring the least invasive techniques. The board recommended looking carefully for mood disturbances, personality disorders and psychic trauma in persons with PNES and considering cognitive-behavioural therapy as a first-line psychological approach and pharmacological treatment to manage comorbid conditions, namely anxiety and depression. Psychogenic non-epileptic seizure management should be multidisciplinary. High-quality long-term studies are needed to standardize PNES management.
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Trastornos Psicofisiológicos/terapia , Convulsiones/terapia , Adulto , Niño , Electroencefalografía/métodos , Femenino , Humanos , Masculino , Trastornos Psicofisiológicos/diagnóstico , Convulsiones/diagnósticoRESUMEN
Summary: The number of patients with uncontrolled asthma is growing especially in young people. Although current therapies improve the disease management, the heterogeneity of clinical outcomes results in patients whose asthma is refractory to standard therapies. To understand not responsive phenotypes, we instituted a web-registry aimed to collect real life data of adolescent and adult patients. One-hundred and five Italian medical Centers are part of the network. Participants above 14 years and affected by severe asthma will be included in the study. Demographic and clinical data will be collected for 5 years on a dedicated electronic database. For the first time in Italy, our study will provide information on epidemiological, clinical and therapeutic aspects related to the natural course of the disease, filling the gap between adolescents and adults.
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Asma/epidemiología , Sistema de Registros , Adolescente , Adulto , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Calidad de Vida , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
INTRODUCTION: This report describes a two-month-old Ouessant ram lamb with hind limb ataxia, knuckling and falling attributable to an abscess in the thoracic vertebral region. A swelling palpated adjacent to the spinous processes of the 9th to 12th thoracic vertebrae was identified via ultrasonography as an abscess located on the transverse processes of these vertebrae. Magnetic resonance imaging of the lamb postmortem revealed that the abscess had invaded the vertebral canal through a channel at the level of the 9th thoracic vertebra causing extradural spinal cord compression. Postmortem examination confirmed these findings, and histological examination showed acute spinal cord degeneration.
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Absceso/veterinaria , Ataxia/veterinaria , Imagen por Resonancia Magnética/veterinaria , Enfermedades de las Ovejas/etiología , Compresión de la Médula Espinal/veterinaria , Absceso/complicaciones , Absceso/diagnóstico por imagen , Animales , Ataxia/etiología , Masculino , Ovinos , Enfermedades de las Ovejas/patología , Compresión de la Médula Espinal/complicaciones , Compresión de la Médula Espinal/diagnóstico por imagen , Compresión de la Médula Espinal/patología , Ultrasonografía/veterinariaRESUMEN
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominantly inherited cerebral small vessel disease caused by Neurogenic locus notch homolog protein 3 (NOTCH3) gene mutations. The main clinical features include migraine with aura, recurrent ischemic strokes and dementia. Brain MRI typically shows multiple small lacunar infarcts and severe, diffuse, symmetrical white matter hyperintensities (WMHs), with characteristic involvement of the anterior temporal pole, external capsule, and superior frontal gyrus. Reports of twins with CADASIL are scarce. Herein we describe a pair of monozygotic twins with peculiar CADASIL phenotype, carrying a new NOTCH3 variant. CASE PRESENTATION: Twin A was a 45-year-old male suffering from migraine, obesity, arterial hypertension, and polycythemia (with negative genetic analysis), who complained of a transient, short-lasting (~ 5 minutes) episode of speech difficulties. Brain MRI showed diffuse, symmetrical, confluent periventricular WMHs involving frontal, parietal, and temporal lobes and external capsules, with sparing of anterior temporal poles. Genetic analysis of NOTCH3 gene demonstrated the presence of missense c.3329G>A, p.(Cys1110Tyr) variant, confirming CADASIL diagnosis. Twin B, affected by migraine and polycythemia, as well as his monozygotic twin, presented with a 2-month history of trigeminal neuralgia. Brain MRI demonstrated diffuse WMHs with a pattern of distribution like his twin. Genetic analysis revealed the same NOTCH3 pathogenic variant. CONCLUSIONS: Our monozygotic twins have a strikingly similar neuroimaging picture with sparing of anterior temporal poles. They also have a peculiar phenotype, both presenting polycythemia without genetically confirmed cause. Twin B had trigeminal neuralgia, that is unusual in CADASIL. The possible association of the peculiar findings with the newly reported NOTCH3 variant needs to be confirmed with further observations.
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CADASIL , Trastornos Migrañosos , Policitemia , Neuralgia del Trigémino , Masculino , Humanos , Persona de Mediana Edad , Gemelos Monocigóticos/genética , CADASIL/diagnóstico por imagen , CADASIL/genética , Receptor Notch3/genéticaAsunto(s)
Neoplasias Encefálicas/patología , Quiste Dermoide/patología , Ventrículos Laterales/fisiopatología , Anciano , Neoplasias Encefálicas/diagnóstico por imagen , Quiste Dermoide/diagnóstico por imagen , Humanos , Ventrículos Laterales/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Topical therapies represent the first-line treatment for mild-to-moderate psoriasis. Among various topical options, the fixed-dose combination of calcipotriene (Cal) and betamethasone dipropionate (BD) foam (Enstilar®, LEO Pharma, Ballerup, Denmark) showed superior efficacy to Cal and BD monotherapy and ointment and gel formulations. In addition, the Cal/BD foam is the only topical treatment allowed for either reactive treatment of relapse or twice-weekly maintenance use. Since treatment acceptability is crucial to optimize adherence, this paper presents a case series from a multicenter experience using the Cal/BD foam, to further characterize the use of this therapeutic approach. In addition, a narrative review of studies evaluating the acceptability of the Cal/BD foam, even compared with other formulations, is provided. CASE SERIES: The case series involved adult patients with mild-to-moderate psoriasis treated with the Cal/BD foam from October 2021 to June 2022. A clinical and dermoscopic evaluation of plaques was provided for all patients. Data from the clinical practice report complete clinical resolution of plaques in most patients after 4 weeks of active treatment with the Cal/BD foam, and the dermoscopic clearance after a maximum of 8 weeks. Full adherence to treatment was also reported. Literature evidence suggests that the Cal/BD foam is easy to apply and presents high cosmetic acceptance, rapid onset of action, high efficacy, optimal safety, and a high patient preference. The high satisfaction obtained with Cal/BD foam suggests that this formulation is better accepted than others. CONCLUSIONS: The Cal/BD foam represents a valuable approach for managing mild-to-moderate psoriasis, both in short and long-term treatment.
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Fármacos Dermatológicos , Psoriasis , Adulto , Humanos , Fármacos Dermatológicos/uso terapéutico , Resultado del Tratamiento , Aerosoles/uso terapéutico , Psoriasis/tratamiento farmacológico , Betametasona/uso terapéutico , Administración Tópica , Combinación de Medicamentos , Estudios Multicéntricos como AsuntoRESUMEN
One limitation of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is the size of the available needles, frequently yielding only cells for cytological examination. The aim of this pilot study was to evaluate the efficacy and safety of newly developed needle forceps to obtain tissue for the histological diagnosis of enlarged mediastinal lymph nodes. Patients with enlarged, positron emission tomography (PET)-positive lymph nodes were included. The transbronchial needle forceps (TBNF), a sampling instrument combining the characteristics of a needle (bevelled tip for penetrating through the bronchial wall) with forceps (two serrated jaws for grasping tissue) was used through the working channel of the EBUS-TBNA scope. Efficacy and safety was assessed. 50 patients (36 males and 14 females; mean age 51 yrs) with enlarged or PET-positive lymph nodes were included in this pilot study. In 48 (96%) patients penetration of the bronchial wall was possible and in 45 patients tissue for histological diagnosis was obtained. In three patients TBNF provided inadequate material. For patients in whom the material was adequate for a histological examination, a specific diagnosis was established in 43 (86%) out of 50 patients (nonsmall cell lung cancer: n=24; small cell lung cancer: n=7; sarcoidosis: n=4; Hodgkin's lymphoma: n=4; tuberculosis: n=2; and non-Hodgkin's lymphoma: n=2).No clinically significant procedure-related complications were encountered. This study demonstrated that EBUS-TBNF is a safe procedure and provides diagnostic histological specimens of mediastinal lymph nodes.
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Biopsia con Aguja/métodos , Broncoscopía/métodos , Carcinoma de Pulmón de Células no Pequeñas/patología , Neoplasias Pulmonares/patología , Ganglios Linfáticos/patología , Ultrasonografía Intervencional/métodos , Adulto , Anciano , Biopsia con Aguja/instrumentación , Broncoscopios , Femenino , Enfermedad de Hodgkin/patología , Humanos , Ganglios Linfáticos/diagnóstico por imagen , Linfoma no Hodgkin/patología , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Proyectos Piloto , Estudios Prospectivos , Sarcoidosis Pulmonar/patología , Carcinoma Pulmonar de Células Pequeñas/patología , Instrumentos Quirúrgicos , Tuberculosis Pulmonar/patologíaRESUMEN
BACKGROUND AND PURPOSE: Rectal biopsy is usually performed for in vivo diagnosis of Kufs disease (KD). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD with those of control subjects. Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD. METHODS: Sixty-five subjects were enrolled and underwent rectal biopsy. Of these, 13 had a clinical picture in keeping with KD, whereas 52, affected by Irritable Bowel Syndrome, constituted the control group. RESULTS: Ultrastructural analysis evidenced fingerprint (FP) inclusions in 12 subjects, 4/13 with suspicion of KD and 8/52 controls. In patients, FPs were mainly located in vascular smooth muscle cells (VSMC) while in controls they were mostly found in pericytes and VSMC. No FPs were found in one patient with genetically confirmed KD. In literature, we identified 14 KD patients who underwent rectal biopsy. In most reports, ultrastructural features were not systematically analyzed or described. CONCLUSIONS: Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD. However, their presence in pericytes and VSMC is not specific for KD because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re-evaluated.
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Lipofuscinosis Ceroideas Neuronales/diagnóstico , Recto/ultraestructura , Adulto , Biopsia , Femenino , Humanos , Masculino , Microscopía Electrónica de Transmisión , Persona de Mediana Edad , Músculo Liso Vascular/ultraestructura , Lipofuscinosis Ceroideas Neuronales/cirugía , Recto/cirugía , Estudios RetrospectivosRESUMEN
BACKGROUND: Little is known about the dermoscopic features of scalp tumours. Objective To determine the dermoscopic features of scalp tumours. METHODS: Retrospective analysis of dermoscopic images of histopathologically diagnosed scalp tumours from International Dermoscopy Society members. RESULTS: A total of 323 tumours of the scalp from 315 patients (mean age: 52 years; range 3-88 years) were analysed. Scalp nevi were significantly associated with young age (<30 years) and exhibited a globular or network pattern with central or perifollicular hypopigmentation. Melanoma and non-melanoma skin cancer were associated with male gender, androgenetic alopecia, age >65 years and sun damage. Atypical network and regression were predictive for thin (≤1 mm) melanomas, whereas advanced melanomas (tumour thickness > 1 mm) revealed blue white veil, unspecific patterns and irregular black blotches or dots. CONCLUSIONS: The data collected provide a new knowledge regarding the clinical and dermoscopy features of pigmented scalp tumours.
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Dermoscopía/métodos , Cuero Cabelludo , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
Blooms of the toxic benthic dinoflagellate Ostreopsis cf. ovata can induce ecological and human health issues in certain temperate areas. In order to prevent these negative effects, long-term monitoring studies of O. cf. ovata blooms have been conducted in several impacted areas to have a comprehensive understanding of bloom dynamics and efficient tools for risk management. O. cf. ovata blooms were monitored every summer (from mid-June to the end of August) on five identified sites in Larvotto beach (Monaco, NW Mediterranean Sea), between 2007 and 2019. This time-series represents one of the largest time-series in the world describing blooms of this species. Bloom phenological features (timing, duration, maximum cell abundance and growth rate), were found to be highly variable throughout the studied period, and were analyzed as a function of different hydroclimatic parameters, including sea surface temperature (SST). The highest net growth rates were related to temperatures ranging between 21°C and 25°C, and did not coincide with maximal temperature records (27.5°C). Such results suggest that, although global warming possibly influences the expansion of O. cf. ovata from tropical to temperate waters, the definite impact of temperature on bloom dynamics might be more complex than a simple facilitation factor for algal growth, at least in NW Mediterranean waters. Furthermore, monthly SST anomalies calculated over this 13-year survey showed a strong positive correlation between spring SST positive anomalies and the bloom starting date, indicating that blooms occurred earlier in the season when spring SSTs were warmer than usual. Overall results provide tools to modelers and managers who are facing crucial challenges to predict the distribution and phenology of O. cf. ovata blooms in European coastal waters, moreover in a context of global warming.
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Dinoflagelados , Mar Mediterráneo , Estaciones del Año , TemperaturaRESUMEN
OBJECTIVE: Sporadic cerebral amyloid angiopathy (CAA) is a degenerative brain small vessel disease of ageing resulting from progressive amyloid deposition in small arteries and arterioles of the cortex and leptomeninges. CAA may be diagnosed by the mean of Boston criteria, particularly with the use of the blood-sensitive T2* MRI sequences (GRE and SWI). Epileptic seizures have rarely been reported in CAA. PATIENTS AND METHODS: We describe two patients with late-onset unprovoked seizures due to CAA. A short literature review on this topic is presented. RESULTS: In our two patients with late-onset unprovoked seizures as the first manifestation of CAA, only GRE and SWI sequences lead to a correct diagnosis. In literature, only 15 patients with CAA presenting with seizures have been reported. In these subjects, data on seizures semiology and prognosis are scarce. CONCLUSIONS: Our report highlights the importance to perform blood-sensitive sequences in all subjects with LOE of otherwise unknown etiology, not to miss a diagnosis of CAA.
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Angiopatía Amiloide Cerebral , Epilepsia , Angiopatía Amiloide Cerebral/complicaciones , Corteza Cerebral , Epilepsia/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Convulsiones/diagnóstico por imagen , Convulsiones/etiologíaRESUMEN
BACKGROUND AND OBJECTIVES: Diagnosis of tuberculous pleurisy (TP) may be challenging and it often requires pleural biopsy. A tool able to increase pre-test probability of TP may be helpful to guide diagnostic work-up and enlargement of internal mammary lymph node (IMLN) has been suggested to play a potential role. The aim of the present investigation was to assess role of IMLN involvement in TP in a multi-centric case-control study, by comparing its prevalence and test performance to those observed in patients with infectious, non-tuberculous pleurisy (NTIP), and in controls free from respiratory diseases (CP). METHODS: A total of 419 patients, from 14 Pulmonology Units across Italy were enrolled (127 patients affected by TP, 163 affected by NTIP and 129 CP). Prevalence, accuracy and predictive values of ipsilateral IMLN involvement between cases and control groups were assessed, as well as concordance between chest computed tomography (CT scan) and thoracic ultrasound (TUS) measurements. RESULTS: The prevalence of ipsilateral IMLN involvement in TP was significantly higher than that observed in NTIP and CP groups (respectively 77.2%, 39.3% and 14.7%). Results on test performance, stratified by age, revealed a high positive predictive value in patients aged ≤50 years, while a high negative predictive value in patients aged >50 years. The comparison between CT scan and ultrasound showed moderate agreement (Kappa=0.502). CONCLUSIONS: Evaluation of IMLN involvement plays a relevant role in assessing the pre-test probability of TP. Considering the increasing global prevalence of mycobacterial infections, a tool able to guide diagnostic work-up of suspected TP is crucial, especially where local sources are limited.
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OBJECTIVES: The purposes of this study were to analyse and compare aspects of validity (concurrent and discriminant) of the two widely used indirect utility instruments, the EuroQol-5D (EQ-5D) and the Short Form-6D (SF-6D) in a representative cohort of patients with rheumatoid arthritis (RA). METHODS: Five hundred and eighty-three consecutive adult patients (435 women, 148 men) with RA and referred to the outpatient Clinic were evaluated. Patients were asked to complete EQ-5D and SF-36. SF-6D utility scores were calculated using the eight mean SF-36 scores, according to published algorithms. Disease-related characteristics included disease duration, co-morbidities, a measure for disease activity [Disease Activity Score-28 joint (DAS28)] and for radiographical damage (Sharp van der Heijde scoring method, SHS). The agreement between the utility instruments was evaluated by Bland-Altman analysis. Construct validity was assessed using the Kruskal-Wallis test, Mann-Whitney U-test, Spearman's correlations, and receiver operating characteristic (ROC) curves. Multivariate analyses were used to assess the relationship among HRQoL and disease-related characteristics and socio-demographic data. RESULTS: A comparison of means showed that SF-6D values exceeded EQ-5D values (p<0.0001). Agreement between both measures was only moderate. Utility scores and domains and summary scores of the SF-36 were highly correlated. The EQ-5D and SF-6D both detected change in different health status (<0.0001). The discriminatory power of both indexes was good, without significant difference, with an AUC of 0.869 and 0.820, respectively for EQ-5D and SF-6D. The EQ-5D and SF-6D both detected change over different health status among RA patients (both al level of p<0.0001) although EQ-5D was more efficient in detecting differences between groups in almost all cases. Comparison of EQ-5D and SF-6D scores within VAS groups showed that, for less healthy individuals (VAS scores 0-50), the median EQ-5D score was significantly lower than the median SF-6D score. The multivariate regression models for EQ-5D and SF-6D included both SHS and DAS28 (p=0.0001). The relative contribution of these domains differed substantially between patients with short and long standing disease duration. The presence of multiple chronic conditions also appeared to contribute to reduce the levels of utility of both instruments. CONCLUSIONS: Although EQ-5D and SF-6D appeared to measure similar constructs, these instruments are quite different from each other in the assessment of RA. For worse health status the median EQ-5D scores were significantly lower than the median SF-6D scores. Moreover, EQ-5D and SF-6D appeared both significantly influenced by disease activity, radiological damage and co-morbidity. For that reason, we advise caution in the employment of these preference-based instruments, especially in RA patients with severe disease.
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Artritis Reumatoide/diagnóstico , Indicadores de Salud , Estado de Salud , Encuestas y Cuestionarios , Adulto , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/economía , Artritis Reumatoide/fisiopatología , Artritis Reumatoide/psicología , Análisis Costo-Beneficio , Estudios Transversales , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Modelos Económicos , Análisis Multivariante , Valor Predictivo de las Pruebas , Pronóstico , Psicometría , Reproducibilidad de los Resultados , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
OBJECTIVE: Convergence spasm is a clinical condition characterized by transient episodes of convergence, miosis and accommodation with strabismus and diplopia and it is usually a manifestation of a functional neurological disorder. We describe a patient with a challenging diagnosis of convergence spasm in the setting of occipital lobe epilepsy. CASE REPORT: A 52-year-old woman came for the assessment of focal epilepsy due to left occipital cortical dysplasia. During ocular motility tests, she presented with episodes of short duration (~10-30 seconds) of convergent strabismus. Neuropsychological evaluation showed a severe mixed anxiety-depressive disorder with a tendency toward somatization. RESULTS: Convergence spasm was recorded during video-EEG examination and no ictal activity was present. CONCLUSIONS: To our knowledge, no other report of functional convergence spasm in the context of focal epilepsy associated with cortical dysplasia has been described in literature.
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Epilepsias Parciales/diagnóstico , Esotropía/diagnóstico , Espasmo/diagnóstico , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana EdadRESUMEN
OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region. RESULTS: We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu). CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.
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Colágeno Tipo IV/genética , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Malformaciones del Desarrollo Cortical/genética , Adulto , Anciano , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , MutaciónRESUMEN
A major research area in Computer Assisted Intervention (CAI) is to aid laparoscopic surgery teams with Augmented Reality (AR) guidance. This involves registering data from other modalities such as MR and fusing it with the laparoscopic video in real-time, to reveal the location of hidden critical structures. We present the first system for AR guided laparoscopic surgery of the uterus. This works with pre-operative MR or CT data and monocular laparoscopes, without requiring any additional interventional hardware such as optical trackers. We present novel and robust solutions to two main sub-problems: the initial registration, which is solved using a short exploratory video, and update registration, which is solved with real-time tracking-by-detection. These problems are challenging for the uterus because it is a weakly-textured, highly mobile organ that moves independently of surrounding structures. In the broader context, our system is the first that has successfully performed markerless real-time registration and AR of a mobile human organ with monocular laparoscopes in the OR.
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Realidad Aumentada , Laparoscopía , Cirugía Asistida por Computador , Femenino , Humanos , Útero/diagnóstico por imagen , Útero/cirugíaRESUMEN
A long-term time series of plankton records collected by the continuous plankton recorder (CPR) Survey in the northeast Atlantic indicates an increased occurrence of Cnidaria since 2002. In the years 2007 and 2008, outbreaks of the warm-temperate scyphomedusa, Pelagia noctiluca, appeared in CPR samples between 45° N to 58° N and 1° W to 26° W. Knowing the biology of this species and its occurrence in the adjacent Mediterranean Sea, we suggest that P. noctiluca may be exploiting recent hydroclimatic changes in the northeast Atlantic to increase its extent and intensity of outbreaks. In pelagic ecosystems, Cnidaria can affect fish recruitment negatively. Since P. noctiluca is a highly venomous species, outbreaks can also be detrimental to aquaculture and make bathing waters unusable, thus having profound ecological and socio-economic consequences.
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Escifozoos/crecimiento & desarrollo , Animales , Océano Atlántico , ADN Mitocondrial/genética , ADN Ribosómico/genética , Mar Mediterráneo , Reacción en Cadena de la Polimerasa , ARN Ribosómico 16S/genética , Escifozoos/genéticaRESUMEN
OBJECTIVES: The ability to predict the development of rheumatoid arthritis (RA) in patients with an early-onset undifferentiated arthritis (UA) is highly required if the remission or an adequate response to the treatment are the main goal. The aim of the study was to develop a predictive rule combining clinical variables, serological biomarkers and power Doppler ultrasonography (PDUS) for the progression from an early-onset UA to RA in daily rheumatological practice. METHODS: A prediction rule was developed after a 12 months study of 149 adult patients with a recent-onset UA. The combination of routine assessment variables and PDUS findings was investigated. Logistic regression analysis was performed to identify the independent factors for the development of RA and global predictive score was calculated. The score of the predictive rule ranged from 0 to 10. The area under the receiver operating characteristic curve was used to evaluate the diagnostic performance of the rule. The post-test probability (post-TP) was evaluated using the Bayes theorem. RESULTS: Sixty-two patients (41.6%) developed a RA. The rule demonstrated excellent discriminative ability, with an AUC of 0.919 (p=0.0001). With the optimal cut-off point of 5, sensitivity was 89.9%, specificity was 88.6% and positive likelihood ratio was 7.89. If a threshold of 6.5 was applied a higher value of specificity (97.7%) was obtained, but sensitivity (47.6%) decreased. The post-TP value of the two different cut-off points mentioned above were 62% and 80%, respectively. CONCLUSIONS: Our predictive rule, which includes PDUS assessment, revealed an excellent discriminative ability for assessing the likelihood of development of RA in patients with an early-onset UA. Further studies are required to confirm the results and to tailor a therapeutic approach in patients with an early-onset UA.
Asunto(s)
Artritis Reumatoide/diagnóstico , Progresión de la Enfermedad , Articulaciones de la Mano/patología , Ultrasonografía Doppler/métodos , Adolescente , Adulto , Anciano , Artritis Reumatoide/sangre , Artritis Reumatoide/fisiopatología , Biomarcadores/sangre , Evaluación de la Discapacidad , Femenino , Estudios de Seguimiento , Articulaciones de la Mano/diagnóstico por imagen , Articulaciones de la Mano/fisiopatología , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Dolor/fisiopatología , Valor Predictivo de las Pruebas , Curva ROC , Encuestas y Cuestionarios , Adulto JovenRESUMEN
BACKGROUND: Physical disability in patients with rheumatoid arthritis (RA) is often assessed by questionnaires. We compared the Recent-Onset Arthritis Disability (ROAD) questionnaire with the Health Assessment Questionnaire (HAQ) disability index (DI) in a cohort of RA patients. The aim of this study was to obtain information on several aspects of construct validity of these measures. METHODS: A cross-sectional multicentre study was carried out among patients with RA who were attending hospital outpatient clinics. The patient group included 196 patients partially or not responding to disease modifying anti-rheumatic drugs. For the evaluation of the psychometric properties of the ROAD in comparison with HAQ-DI this population has been compared to another cohort of 247 outpatients with RA who were participating in a long-term observational study. All patients completed the ROAD and HAQ-DI. Additional comparator composite indices of disease activity were analysed. The ROAD structural validity was first assessed using exploratory factor analysis. Concurrent validity was analysed by Spearman's correlations and cross-tabulations. Discriminant validity to distinguish patients with active and non-active disease was assessed with receiver operating characteristic (ROC) curve analysis. For agreement analysis Bland and Altman plots were calculated. RESULTS: Factor analysis yielded a two-factor ROAD score that accounted for 68.74% of the explained variance in the questionnaire. The first factor, namely upper extremity function/activity daily living and work (ROAD-upper) accounted for 55.6% of the explained variance. The second factor, namely lower extremity function (ROAD-lower) accounted for 13.1% of the explained variance. Significant correlations were found between the scores of the ROAD and the other clinical variables with a high ability to measure pain and disease activity, supporting the concept of convergent construct validity. The discriminatory power of both questionnaires to assess inactive and active RA patients was good, without significant difference. CONCLUSIONS: ROAD is a good alternative to the HAQ-DI for the assessment of physical disability in RA. Use of the ROAD makes it easier and less costly to collect data and reduces the burden on RA patients and should be applied in both clinical trials and routine clinical care settings.