RESUMEN
AIM: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy. METHOD: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome. RESULTS: All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years. INTERPRETATION: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome. WHAT THIS PAPER ADDS: Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.
Asunto(s)
Anomalías Múltiples , Enfermedades del Desarrollo Óseo , Epilepsia Generalizada , Discapacidad Intelectual , Anomalías Dentarias , Masculino , Femenino , Humanos , Anomalías Múltiples/diagnóstico , Discapacidad Intelectual/diagnóstico , Enfermedades del Desarrollo Óseo/diagnóstico , Enfermedades del Desarrollo Óseo/genética , Anomalías Dentarias/diagnóstico , Anomalías Dentarias/genética , Facies , Estudios Retrospectivos , Proteínas Represoras/genética , Deleción Cromosómica , FenotipoRESUMEN
We need to effectively combine the knowledge from surging literature with complex datasets to propose mechanistic models of SARS-CoV-2 infection, improving data interpretation and predicting key targets of intervention. Here, we describe a large-scale community effort to build an open access, interoperable and computable repository of COVID-19 molecular mechanisms. The COVID-19 Disease Map (C19DMap) is a graphical, interactive representation of disease-relevant molecular mechanisms linking many knowledge sources. Notably, it is a computational resource for graph-based analyses and disease modelling. To this end, we established a framework of tools, platforms and guidelines necessary for a multifaceted community of biocurators, domain experts, bioinformaticians and computational biologists. The diagrams of the C19DMap, curated from the literature, are integrated with relevant interaction and text mining databases. We demonstrate the application of network analysis and modelling approaches by concrete examples to highlight new testable hypotheses. This framework helps to find signatures of SARS-CoV-2 predisposition, treatment response or prioritisation of drug candidates. Such an approach may help deal with new waves of COVID-19 or similar pandemics in the long-term perspective.
Asunto(s)
COVID-19/inmunología , Biología Computacional/métodos , Bases de Datos Factuales , SARS-CoV-2/inmunología , Programas Informáticos , Antivirales/uso terapéutico , COVID-19/genética , COVID-19/virología , Gráficos por Computador , Citocinas/genética , Citocinas/inmunología , Minería de Datos/estadística & datos numéricos , Regulación de la Expresión Génica , Interacciones Microbiota-Huesped/genética , Interacciones Microbiota-Huesped/inmunología , Humanos , Inmunidad Celular/efectos de los fármacos , Inmunidad Humoral/efectos de los fármacos , Inmunidad Innata/efectos de los fármacos , Linfocitos/efectos de los fármacos , Linfocitos/inmunología , Linfocitos/virología , Redes y Vías Metabólicas/genética , Redes y Vías Metabólicas/inmunología , Células Mieloides/efectos de los fármacos , Células Mieloides/inmunología , Células Mieloides/virología , Mapeo de Interacción de Proteínas , SARS-CoV-2/efectos de los fármacos , SARS-CoV-2/genética , SARS-CoV-2/patogenicidad , Transducción de Señal , Factores de Transcripción/genética , Factores de Transcripción/inmunología , Proteínas Virales/genética , Proteínas Virales/inmunología , Tratamiento Farmacológico de COVID-19RESUMEN
BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and disabling immunomediated radiculoneuropathy. Its worldwide epidemiology is heterogeneous and, in adults, CIDP prevalence varies from 0.6 to 9 cases per 100,000 population. Juvenile CIDP (jCIDP) is even rarer, with age-specific prevalence rates varying from 0.23 to 1.26 owing to different diagnostic criteria (American Academy of Neurology [AAN] and European Federation of Neurological Societies/Peripheral Nerve Society [EFNS/PNS]), different age grouping or, genuine differences. OBJECTIVES: We assessed jCIDP incidence and prevalence in Sardinia, an area at very-high risk for autoimmune diseases, using comparable methods. DESIGN: The study area was the northern Sardinia, insular Italy, with 491,571 inhabitants and a pediatric population (0-18 years) of 79,086 individuals. RESULTS: On prevalence day (December 31, 2019) the total crude, age-specific prevalence rate were 6.32 per 100,000 according with AAN criteria, 7.58 per 100,000 population with European Neuromuscular Center (ENMC) criteria, and 8.85 per 100,000 population with both 2006 and 2010 EFNS/PNS criteria. Crude mean incidence rate were 0.42 per 100,000 per year with AAN criteria, 0.50 per 100,000 per year with ENMC criteria, and 0.59 per 100,000 per year using 2006 and 2010 EFNS/PNS criteria. Of the eight patients, six had typical CIDP, one had multifocal-acquired demyelinating sensory and motor neuropathy (MADSAM), and one chronic immune sensory polyradiculopathy (CISP). Patient's disability was generally mild. Clinical course was progressive, monophasic, or relapsing. CONCLUSION: jCIDP prevalence and incidence rates in Sardinia were criteria-dependent, the lowest obtained when using AAN criteria, the highest using the EFNS/PNS. Nonetheless, even with the exclusion of the "possible" category, by using comparable methodology, prevalence rates in Sardinia are considerably higher than the range reported in all previous jCIDP studies.
Asunto(s)
Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/diagnóstico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/epidemiología , Guías de Práctica Clínica como Asunto , Adolescente , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Italia , Islas del Mediterráneo/epidemiología , PrevalenciaRESUMEN
BACKGROUND: The mechanisms underlying the therapeutic activity of interferon-ß in multiple sclerosis are still not completely understood. In the present study, we evaluated the short and long-term effects of interferon-ß treatment on different subsets of regulatory T cells in relapsing-remitting multiple sclerosis patients biologically responsive to treatment because of mixovirus resistance protein A inducibility. METHODS: In this prospective longitudinal study, subsets of natural regulatory T cells (naïve, central memory and effector memory) and inducible regulatory T cells (Tr1), as well as in vitro-induced regulatory T cells (Tr1-like cells), were simultaneously quantified by flow cytometry in samples prepared from 148 therapy-naïve multiple sclerosis patients obtained before and after 6, 12, 18, and 24 months of interferon-ß-1a treatment. mRNA for interleukin-10 and Tr1-related genes (CD18, CD49b, and CD46, together with Cyt-1 and Cyt-2 CD46-associated isoforms) were quantified in Tr1-like cells. RESULTS: Despite profound inter-individual variations in the modulation of all regulatory T-cell subsets, the percentage of natural regulatory T cells increased after 6, 12, and 24 months of interferon-ß treatment. This increase was characterized by the expansion of central and effector memory regulatory T-cell subsets. The percentage of Tr1 significantly enhanced at 12 months of therapy and continued to be high at the subsequent evaluation points. Patients experiencing relapses displayed a higher percentage of naïve regulatory T cells and a lower percentage of central memory regulatory T cells and of Tr1 before starting interferon-ß therapy. In addition, an increase over time of central memory and of Tr1 was observed only in patients with stable disease. However, in vitro-induced Tr1-like cells, prepared from patients treated for 24 months, produced less amount of interleukin-10 mRNA compared with pre-treatment Tr1-like cells. CONCLUSION: Interferon-ß induces the expansion of T regulatory subsets endowed with a high suppressive activity, especially in clinically stable patients. The overall concurrent modulation of natural and inducible regulatory T-cell subsets might explain the therapeutic effects of interferon-ß in multiple sclerosis patients.
Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Interferón beta/uso terapéutico , Estudios Longitudinales , Esclerosis Múltiple/tratamiento farmacológico , Estudios Prospectivos , Subgrupos de Linfocitos T , Linfocitos T ReguladoresRESUMEN
BACKGROUND: Prior studies documented that several sleep disorders may coexist in patients affected by Mild Cognitive Impairment (MCI) and Alzheimer disease (AD), and have a strong bidirectional relationship with cognitive decline. AIM: To assess the self-reported sleep quality and daytime sleepiness among subjects affected by MCI and AD at early-stage and healthy controls, and to verify if sleep disturbances might be an indicator of specific cognitive deficits. METHODS: 139 patients (102 MCI, 37 AD) underwent comprehensive neuropsychological, functional, and behavioral assessment, which also included Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI). 80 healthy elderly subjects were used as controls. MCI patients have been divided into Good Sleepers and Bad Sleepers, depending on their reported sleep quality (PSQI global score ≤5/>5). RESULTS: MCI patients experienced more subjective daytime sleepiness than AD matches. As for the subjective sleep quality among MCI patients, 54% of Bad Sleepers met diagnostic criteria for non-amnestic MCI; vice-versa, 73% of Good Sleepers were diagnosed with amnestic-MCI (p = 0.005), independently of depression and anxiety. CONCLUSIONS: MCI patients complain of daytime sleepiness and dysfunction more than AD patients; among MCI patients, Bad Sleepers appear mainly characterized by a non-amnestic cognitive profile.
Asunto(s)
Enfermedad de Alzheimer/complicaciones , Disfunción Cognitiva/fisiopatología , Trastornos del Sueño-Vigilia/epidemiología , Sueño/fisiología , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Trastornos del Conocimiento/fisiopatología , Depresión/diagnóstico , Depresión/epidemiología , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Autoinforme , Trastornos del Sueño-Vigilia/psicologíaRESUMEN
INTRODUCTION: Although dental emergencies are primarily aimed at pain relief, in practice, dental emergency services have been overwhelmed by the massive inflow of patients with less complex cases, which could be resolved at basic levels of health care. They frequently become the main gateway to the system. We investigated the determinant factors of demand at the Central Dental Emergency Unit in Bauru, São Paulo, Brazil. MATERIALS AND METHODS: The questionnaire was applied to 521 users to evaluate sociodemographic profile; factors that led users to seek the service at the central dental emergency; perception of service offered. RESULTS: About 80.4% of users went directly to the central dental emergency, even before seeking basic health units. The reasons were difficulty to be attended (34.6%) and incompatible time (9.8%). To the perception of the necessity of the service, responses were problem as urgent (78.3%) and pain was the main complaint (69.1%). The profile we found was unmarried (41.5%), male (52.2%), white (62.8%), aged 30 to 59 (52.2%), incomplete basic education (41.6%), family income up to 2 minimum wages (47.4%), and no medical/dental plan (88.9%). CONCLUSION: It was concluded that the users of central dental emergency come from all sectors of the city, due to difficult access to basic health units; they consider their complaint urgent; and they are satisfied with the service offered. CLINICAL SIGNIFICANCE: To meet the profile of the user urgency's service so that it is not overloaded with demand that can be fulfilled in basic health units.
Asunto(s)
Atención Odontológica/estadística & datos numéricos , Servicios Médicos de Urgencia/estadística & datos numéricos , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Adolescente , Adulto , Brasil , Humanos , Renta , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto JovenRESUMEN
INTRODUCTION: Cannabinoids are approved for spasticity and pain in multiple sclerosis (MS). In 2017 the prevalence of current users in the Italian general population was 10.2%, while data on Italian MS patients are limited. METHODS: From March 2022 to February 2023, we conducted a multicenter, cross-sectional study. Adult MS patients completed an anonymous online survey. The primary outcome was the estimated prevalence of unprescribed cannabis current use. Cannabis use patterns and associations with clinical and socio-demographical variables were investigated. The binomial method was used to estimate 95% confidence interval (95% CI) for primary outcome. RESULTS: 5620 patients were invited and 2024 (36.0%) were included (mean age 45.2 years, females 64.5%). Relapsing remitting form was the most frequent (77.3%). Median expanded disability status scale (EDSS) was 2.0. The proportion of current users was 15.5% (95% CI 13.9-17.1) and 36.4% of them disclosed to their physician their unprescribed cannabis use. 15.0% patients were former users while 69.5% never used cannabis. Current users more frequently reported a medical use (i.e., current medical users) compared to former users (p < 0.001). 41.1% of never users would use cannabis if it was legal. Young age, being male, and a free marital status were associated with current use. Current medical users had higher disability, spasticity and pain, reduced quality of life, concomitant neurological/psychiatric drugs and analgesics use. Unprescribed cannabis appeared relatively safe, with limited addiction risk, and reported clinical benefits, including concomitant medications reduction. CONCLUSION: Unprescribed cannabis use is common in patients with MS in Italy, with observed prevalence seemingly superior to the general population, often intended for medical use and without the disclosure to the treating physician, although with potential clinical benefits.
RESUMEN
[This corrects the article DOI: 10.3389/fped.2023.1094246.].
RESUMEN
Background: Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presentation and clinical course, the neurodevelopmental outcome, and the genetic findings of neonates with AVSs. Methods: In this retrospective observational study, medical records of neonates with cerebral AVSs admitted to our hospital from January 2020 to July 2022 were revised. In particular, we evaluated neuroimaging characteristics, endovascular treatment, neurophysiological features, neurodevelopmental outcomes, and genetic findings. Results: We described the characteristics of 11 patients with AVSs. Ten infants (90.9%) required embolization during the first three months of life. In 5/9 infants, pathological electroencephalography findings were observed; of them, two patients presented seizures. Eight patients performed Median Nerve Somatosensory Evoked Potentials (MN-SEPs): of them, six had an impaired response. We found normal responses at Visual Evoked Potentials and Brainstem Auditory Evoked Potentials. Eight patients survived (72.7%) and were enrolled in our multidisciplinary follow-up program. Of them, 7/8 completed the Bayley-III Scales at 6 months of corrected age: none of them had cognitive and language delays; conversely, a patient had a moderate delay on the Motor scale. The remaining survivor patient developed cerebral palsy and could not undergo Bayley-III evaluation because of the severe psychomotor delay. From the genetic point of view, we found a novel pathogenic variant in the NOTCH3 gene and three additional genomic defects of uncertain pathogenicity. Conclusion: We propose SEPs as an ancillary test to discern the most vulnerable infants at the bedside, particularly to identify possible future motor impairment in follow-up. The early identification of a cognitive or motor delay is critical to intervene with personalized rehabilitation treatment and minimize future impairment promptly. Furthermore, the correct interpretation of identified genetic variants could provide useful information, but further studies are needed to investigate the role of these variants in the pathogenesis of AVSs.
RESUMEN
BACKGROUND: Clinicians are increasingly recognizing the importance of shared decision-making in complex treatment choices, highlighting the importance of the patient's rationale and motivation for switching therapies. This study aimed to evaluate the association between different modalities of changing multiple sclerosis (MS) treatments, cognitive profile and attitude and preferences of patients concerning treatment choice. METHODS: This multicenter cross-sectional study was conducted at 28 Italian MS centers in the period between June 2016 and June 2017. We screened all MS patients treated with any DMT, with a treatment compliance of at least 80% of therapy administered during the 3 last months who needed to modify MS therapy because of efficacy, safety or other reasons during a follow-up visit. At the time of switching the symbol digit modalities test (SDMT) and the Control Preference Scale (CPS) were evaluated. According to the CPS, patients were classified as "active" (i.e. who prefer making the medical decision themselves), "collaborative" (i.e. who prefer decisions be made jointly with the physician), or "passive" (i.e. who prefer the physician make the decision). RESULTS: Out of 13,657 patients recorded in the log, 409 (3%) changed therapy. Of these, 336 (2.5%) patients, 69.6% were female and with mean age 40.6 ± 10.5 years, were enrolled. According to the CPS score evaluation, a significant high percentage of patients (51.1%) were considered collaborative, 74 patients (22.5%) were passive, and 60 (18.2%) patients were active. Stratifying according to CPS results, we found a higher SDMT score among collaborative patients compared to active and passive ones (45.8 ± 12.3 versus 41.0 ± 13.2 versus 41.7 ± 12.8, p < 0.05). CONCLUSION: In this study, the CPS evaluation showed that more than 50% of patients who needed to change therapy chose a "collaborative" role in making treatment decision. Cognitive profile with SDMT seems to correlate with patients' preference on treatment decision, showing better scores in collaborative patients.
Asunto(s)
Esclerosis Múltiple , Humanos , Femenino , Adulto , Persona de Mediana Edad , Masculino , Esclerosis Múltiple/psicología , Estudios Transversales , Toma de Decisiones , Prioridad del Paciente , ItaliaRESUMEN
Thymic and bone marrow outputs were evaluated in 13 sequential samples of 68 multiple sclerosis patients who initiated alemtuzumab and were clinically followed for 48 months. Three months after alemtuzumab infusions, the levels of new T lymphocytes were significantly reduced, but progressively increased reaching the highest values at 36 months, indicating the remarkable capacity of thymic function recovery. Newly produced B cells exceeded baseline levels as early as 3 months after alemtuzumab initiation. Heterogeneous patterns of new T- and B-cell recovery were identified, but without associations with age, sex, previous therapies, development of secondary autoimmunity or infections, and disease re-emergence. Trial registration version 2.0-27/01/2016.
Asunto(s)
Esclerosis Múltiple , Humanos , Alemtuzumab/uso terapéutico , Esclerosis Múltiple/tratamiento farmacológico , Médula Ósea , Relevancia Clínica , Linfocitos TRESUMEN
Introduction: Thrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management. Methods: We present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management. Results: The RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0-18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled. Discussion: The RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.
RESUMEN
INTRODUCTION: Diastasis recti abdominis (DRA) and pelvic floor dysfunction (PFD) occurs commonly with aging; however, little is known about what leads to these changes. OBJECTIVE: We aimed to investigate and compare the presence or absence of DRA and PFD in peri- and postmenopausal women. METHODS: This cross-sectional study involved 150 participants who answered questions on their sociodemographic and clinical profiles related to urinary and fecal incontinence and pelvic organ prolapse. Diastasis recti abdominis was diagnosed with a digital caliper. RESULTS: Supra-umbilical diastasis occurred in 37.3% of cases, and 78.6% of participants with DRA had PFD. No significant differences existed between participants with and without DRA in terms of background and clinical variables. However, participants with DRA were 2.6 times more likely to have PFD than participants without DRA. Furthermore, the presence of DRA was significantly shown to be a risk factor for PFD on binary logistic regression analyses (p = .01, OR = 3.2). CONCLUSIONS: This cross-sectional study suggests that DRA is a predictive factor of PFD in women aged over 50 years.
Asunto(s)
Enfermedades Musculares , Prolapso de Órgano Pélvico , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Diafragma Pélvico , Posmenopausia , Recto del AbdomenRESUMEN
Tuberous sclerosis complex (TSC) is a rare multisystem, autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric manifestations. Around two thirds of patients develop drug-resistant epilepsy for whom surgical resection of epileptogenic foci is indicated when seizures remain inadequately controlled following trial of two antiseizure medications. The challenge with presurgical and surgical approaches with patients with TSC is overcoming the complexity from the number of tubers and the multiplex epileptogenic network forming the epileptogenic zone. Data suggest that seizure freedom is achieved by 55%-60% of patients, but predictive factors for success have remained elusive, which makes for unconfident selection of surgical candidates. This article presents three different cases as illustrations of the potential challenges faced when assessing the suitability of TSC patients for epilepsy surgery.
RESUMEN
ASD is a neurodevelopmental disorder of unknown aetiology but with a known contribution of pathogenic immune-mediated mechanisms. HERVs are associated with several neuropsychiatric diseases, including ASD. We studied anti-HERV-W, -K and -H-env immune profiles in ASD children to analyse differences between their respective mothers and child/mother control pairs and possible correlations to ASD severity and loss of adaptive abilities. Of the 84 studied individuals, 42 children (23 ASD and 19 neurotypical) and their paired mothers underwent clinical and neuropsychological evaluations. ASD severity was analysed with standardised tests. Adaptive functioning was studied with ABAS-II and GAC index. Plasma anti-env responses of HERV-K, -H and -W were tested with indirect ELISA. ASD and neurotypical children did not differ in age, gender, comorbidities and anti-HERV responses. In children with ASD, anti-HERV levels were not correlated to ASD severity, while a significant inverse correlation was found between anti-HERV-W-248-262 levels and adaptive/social abilities. Upregulation of anti-HERV-W response correlates to dysfunctional social and adaptive competences in ASD but not in controls, suggesting anti-HERV response plays a role in the appearance of peculiar ASD symptoms.
RESUMEN
Background: Glucose-transporter-1 deficiency syndrome (GLUT1-DS), due to SLC2A1 gene mutation, is characterized by early-onset seizures, which are often drug-resistant, developmental delay, and hypotonia. Hemiplegic migraine (HM) is a rare form of migraine, defined by headache associated with transient hemiplegia, and can be caused by mutations in either CACNA1A, ATP1A2, or SCN1A. Paroxysmal movements, other transient neurological disorders, or hemiplegic events can occur in GLUT1-DS patients with a mild phenotype. Case: We report on a girl with GLUT1-DS, due to SLC2A1 mutation, with a mild phenotype. In early childhood, she developed epilepsy and mild cognitive impairment, balance disorders, and clumsiness. At the age of 9, the patient reported a first hemiplegic episode, which regressed spontaneously. Over the next 3 years, two similar episodes occurred, accompanied by headache. Therefore, in the hypothesis of HM, genetic testing was performed and CACNA1A mutation was identified. The treatment with Lamotrigine avoided the recurrence of HM episodes. Discussion: To our knowledge, among the several cases of GLUT1-DS with HM symptoms described in the literature, genetic testing was only performed in two of them, which eventually proved to be negative. In all other cases, no other genes except for SLC2A1 were examined. Consequently, our patient would be the first description of GLUT1-DS with HM due to CACNA1A mutation. We would emphasize the importance of performing specific genetic testing in patients with GLUT1-DS with symptoms evocative of HM, which may allow clinicians to use specific pharmacotherapy.
RESUMEN
BACKGROUND: Childhood neurodevelopmental disorders (NDDs), including specific learning disorders (SLD), attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are pathogenically linked to familial autoimmunity and maternal immune-mediated diseases during pregnancy. OBJECTIVE: We studied maternal MS as a potential risk factor for NDDs occurrence in offspring. METHODS: MS and control mothers were subjected to questionnaires to ascertain NDD diagnosis in their progeny and the occurrence of both autoimmune and neurodevelopment disorders in their families. Suspected NDD cases were evaluated to confirm or rule out the diagnosis. RESULTS: Of the 322 MS women, 206 (64%) have 361 children; of these, 27 (7.5%) were diagnosed with NDD (11% ADHD; 22% ASD; 67% SLD). NDD-risk in offspring was associated to family history of autoimmunity and to NDDs both in MS and non-MS mother families (r = 0.75; p = 0.005) whereas it was not associated to maternal MS. CONCLUSIONS: For the first time, we demonstrate that maternal MS does not predispose children to higher risk for NDD. On a mechanistic view, we suggest that the intrinsic organ-specific nature of MS does not impair the mother-child cross-talk in decidua nor does it influence fetal neurodevelopment.
RESUMEN
BACKGROUND: Low back pain (LBP) is a common complaint among children and adolescents and can negatively impact their physical and mental health. Although previous studies investigating the incidence of low back pain (LBP) in children and adolescents have been performed in high income countries, it is unclear whether countries such as Brazil would show similar incidence rates. OBJECTIVE: To determine the incidence and to identify predictors of new episodes of LBP in high school students. METHODS: This is a 1-year longitudinal study of high school students from public schools in the city of Bauru, Sao Paulo. Collected clinical data were: demographic and socioeconomic factors, information on the use of electronic devices, mental health status (the Strengths and Difficulties Questionnaires), level of habitual physical activity (Baecke Physical Activity Questionnaire), and incidence of LBP (measured with question about LBP in the past 12 months and the Nordic Musculoskeletal Questionnaire). Descriptive analysis and bivariate and multivariate logistic regressions were performed. RESULTS: The cumulative incidence of new LBP episodes for the total cohort of 757 high school students was 18.9% (95% CI: 16.2, 21.8). The cumulative incidence was 14.8% (95% CI: 11.7, 18.5) for male students and 24.1% (95% CI: 19.8, 29.9) for female students. Being a female student (OR = 1.78; 95% CI: 1.23, 2.59), sitting posture while using tablet (OR = 4.34; 95% CI: 1.19, 16.60), daily time spent on tablet (OR = 3.21; 95% CI: 1.41, 7.30), daily time spent on mobile phone (OR =1.49; 95% CI: 1.11, 2.00), lying posture while using mobile phone (OR = 1.49; 95% CI: 1.05, 2.12), and mental health status (OR = 2.81; 95% CI: 1.76, 4.48) were identified as predictor variables. CONCLUSION: Our findings showed that one in five high school students reported having a LBP episode over the last year. The predictors found to be associated with low back pain include those related to sex, time and posture while using electronic devices, and mental health status.
Asunto(s)
Dolor de la Región Lumbar , Adolescente , Brasil/epidemiología , Niño , Femenino , Humanos , Incidencia , Estudios Longitudinales , Dolor de la Región Lumbar/epidemiología , Masculino , Prevalencia , Estudios Prospectivos , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
OBJECTIVES: Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS: Retrospective, observational analysis on all COVID-19 patients admitted from February 23rd to April 30th, 2020 to ASST Papa Giovanni XXIII, Bergamo, Italy for whom a neurological consultation/neurophysiological assessment/neuroradiologic investigation was requested. Each identified neurologic complication was then classified into main neurologic categories. RESULTS: Of 1760 COVID-19 patients, 137 presented neurologic manifestations that manifested after COVID-19 symptoms in 98 pts and was the presenting symptom in 39. Neurological manifestations were classified as: (a) cerebrovascular disease [53 pts (38.7%)] including 37 ischemic and 11 haemorrhagic strokes, 4 transient ischemic attacks, 1 cerebral venous thrombosis; (b) peripheral nervous system diseases [31 (22.6%)] including 17 Guillain-Barrè syndromes; (c) altered mental status [49 (35.8%)] including one necrotizing encephalitis and 2 cases with RT-PCR detection of SARS-Cov-2 RNA in CSF; (d) miscellaneous disorders, among whom 2 patients with myelopathy associated with Ab anti-SARS-CoV-2 in CSF. Patients with peripheral nervous system involvement had more frequently severe ARDS compared to patients with cerebrovascular disease (87.1% vs 42%; difference = 45.1% 95% CI 42.0-48.2; χ2= 14.306; p < 0.0002) and with altered mental status (87.1% vs 55.6%; difference = 31.5% 95% CI 27.5-37.5%; χ2= 7.055; p < 0.01). CONCLUSION: This study confirms that involvement of nervous system is common in SARS-CoV-2 infection and offers clinicians useful information for prevention and prompt identification in order to set the adequate therapeutic strategies.