L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.

GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate the tolerability and efficacy of L-serine in children with GRIN genetic variants leading to loss-of-function. In this phase 2A trial, patients aged 2-18 years with GRIN loss-of-function pathogenic variants received L-serine for 52 weeks. Primary end points included safety and efficacy by measuring changes in the Vineland Adaptive Behavior Scales, Bayley Scales, age-appropriate Wechsler Scales, Gross Motor Function-88, Sleep Disturbance Scale for Children, Pediatric Quality of Life Inventory, Child Behavior Checklist and the Caregiver-Teacher Report Form following 12 months of treatment. Secondary outcomes included seizure frequency and intensity reduction and EEG improvement. Assessments were performed 3 months and 1 day before starting treatment and 1, 3, 6 and 12 months after beginning the supplement. Twenty-four participants were enrolled (13 males/11 females, mean age 9.8 years, SD 4.8), 23 of whom completed the study. Patients had GRIN2B, GRIN1 and GRIN2A variants (12, 6 and 5 cases, respectively). Their clinical phenotypes showed 91% had intellectual disability (61% severe), 83% had behavioural problems, 78% had movement disorders and 58% had epilepsy. Based on the Vineland Adaptive Behavior Composite standard scores, nine children were classified as mildly impaired (cut-off score > 55), whereas 14 were assigned to the clinically severe group. An improvement was detected in the Daily Living Skills domain (P = 0035) from the Vineland Scales within the mild group. Expressive (P = 0.005), Personal (P = 0.003), Community (P = 0.009), Interpersonal (P = 0.005) and Fine Motor (P = 0.031) subdomains improved for the whole cohort, although improvement was mostly found in the mild group. The Growth Scale Values in the Cognitive subdomain of the Bayley-III Scale showed a significant improvement in the severe group (P = 0.016), with a mean increase of 21.6 points. L-serine treatment was associated with significant improvement in the median Gross Motor Function-88 total score (P = 0.002) and the mean Pediatric Quality of Life total score (P = 0.00068), regardless of severity. L-serine normalized the EEG pattern in five children and the frequency of seizures in one clinically affected child. One patient discontinued treatment due to irritability and insomnia. The trial provides evidence that L-serine is a safe treatment for children with GRIN loss-of-function variants, having the potential to improve adaptive behaviour, motor function and quality of life, with a better response to the treatment in mild phenotypes.

Recovery course of persistent posterior subretinal fluid after successful repair of rhegmatogenous retinal detachment.

PURPOSE: To investigate best corrected visual acuity (BCVA), subretinal fluid (SRF) absorption time or ellipsoid zone (EZ) restoration time and various variables in patients with persistent SRF after successful primary repair of rhegmatogenous retinal detachment (RRD). METHODS: This retrospective multicenter study allowed independent analysis of the healing pattern by two observers based on composite of serial cross-sectional macular optical coherence tomography (OCT) scans. Univariate and multivariate analyses were implemented. RESULTS: One hundred and three cases had persistent SRF after pars plana vitrectomy, scleral buckling, or pneumatic retinopexy. By univariate analysis, SRF resolution time correlated positively with the number of retinal breaks (p < 0.001) and with increased myopia (p = 0.011). Using multivariate analysis, final BCVA (log MAR) correlated positively with age, duration of RRD, initial BCVA (OR = 3.28; [95%CI = 1.44-7.47]; p = 0.015), and SRF resolution time (OR = 0.46 [95%CI 0.21-1.05]; p = 0.049). EZ restoration time was longer with increasing number of retinal tears (OR = 0.67; [95%CI 0.29-1.52]; p = 0.030), worse final BCVA, and presence of macula-off RRD (OR = 0.26; [95%CI 0.08-0.88]; p = 0.056). SRF resolution time correlated marginally with prone position. CONCLUSIONS: Residual posterior SRF is more common in eyes with multiple breaks or in myopic eyes. Final BCVA is better in younger subjects and in eyes with shorter duration of RRD. Persistent SRF is a self-limited disorder with a mean resolution of 11.2 months with good visual prognosis improving from a mean baseline logMAR of 1.08 to 0.25 at one year.

Serum 25-hydroxy vitamin D levels in age-related macular degeneration.

BACKGROUND: The aim of this study was to determine the 25-hydroxy vitamin D (25(OH)D) levels in age-related macular degeneration (AMD) patients. METHODS: Age-related macular degeneration (AMD) patients were classified into four groups: early AMD (N = 10), intermediate AMD (N = 12), advanced atrophic AMD (N = 19) and advanced neovascular AMD (N = 52) after undergoing fundus photography. Serum 25(OH)D levels of all subjects were evaluated. From a random control group of 326 patients whose 25(OH)D levels had been measured, a group of 93 were selected to match the age range of the AMD group. We measured 25(OH)D levels during the same period to rule out seasonal variation. RESULTS: A total of 93 AMD patients (36 males and 57 females) and 93 healthy individuals (39 males and 54 females) were enrolled in this study with the mean age of 78.96 ± 8.46 vs. 78.80 ± 8.35, respectively. The patients affected by AMD had statistically significant lower 25(OH)D levels (15 ± 10 ng/mL) than the healthy subjects control group (21 ± 14 ng/mL) (p = 0.004). However, the median 25(OH)D levels in early AMD, intermediate AMD, advanced atrophic AMD and advanced neovascular AMD (12.5 ± 7.3; 15 ± 11; 15 ± 8 and 17 ± 11.5, respectively) were not statistically significant (p = 0.442). CONCLUSION: This study shows that patients affected by AMD had lower vitamin D levels compared to healthy subjects. Further research is necessary to investigate the possible association between 25(OH)D levels and AMD.

Impact of Airline Secondhand Tobacco Smoke Exposure on Respiratory Health and Lung Function Decades After Exposure Cessation.

BACKGROUND: Twenty-five percent to 45% of COPD is caused by exposures other than active smoking. Secondhand tobacco smoke (SHS) has been suggested as an independent cause of COPD, based on its association with increased respiratory symptoms and a small decrease in lung function, but its impact on respiratory health and lung function after exposure cessation has not been explored. RESEARCH QUESTION: What are the consequences of airline SHS exposure on respiratory health and lung function decades after cessation? STUDY DESIGN AND METHODS: We performed a cohort study involving flight attendants because of their exposure to SHS that stopped > 20 years ago. We included subjects ≥ 50 years of age with > 1 year vs ≤ 1 year of airline SHS exposure (ie, exposed vs unexposed). Respiratory quality of life, as determined by the St. George's Respiratory Questionnaire (SGRQ), was the primary outcome for respiratory health. Key secondary outcomes included general quality of life (the Rand Corporation modification of the 36-item Short Form Health Survey Questionnaire; RAND-36), respiratory symptoms (COPD Assessment Test; CAT), and spirometry. RESULTS: The study enrolled 183 SHS-exposed and 59 unexposed subjects. Exposed subjects were 66.7 years of age, and 90.7% were female. They were hired at 23.8 years of age, were exposed to airline SHS for 16.1 years, and stopped exposure 27.5 years before enrollment. Prior SHS exposure was associated with worsened SGRQ (6.7 units; 95% CI, 2.7-10.7; P = .001), RAND-36 physical and social function, and CAT vs unexposed subjects. SHS exposure did not affect prebronchodilator spirometry or obstruction, but was associated with lower postbronchodilator FEV1 and FEV1/FVC, total lung capacity, and diffusing capacity of the lungs for carbon monoxide in a subset of subjects. Former smoking and SHS exposure synergistically worsened SGRQ (ß = 8.4; 95% CI, 0.4-16.4; P = .04). SHS exposure in people who never smoked replicated primary results and was associated with worsened SGRQ vs unexposed people (4.7 units; 95% CI, 0.7-7.0; P = .006). INTERPRETATION: Almost three decades after exposure ended, airline SHS exposure is strongly and dose-dependently associated with worsened respiratory health, but less robustly associated with airflow abnormalities used to diagnose COPD.

Neurodevelopmental Outcomes of Infants Younger Than 90 Days Old Following Enterovirus and Parechovirus Infections of the Central Nervous System.

Enteroviruses (EVs) and human parechoviruses (HPeVs) are a major cause of central nervous system (CNS) infection in young infants. They have been implicated in neurodevelopmental delay, however limited data are available. The aim of this study is to describe the clinical outcome of young infants and to assess and compare the medium-term neurodevelopment following CNS infections caused by EV and HPeV. A multicentre observational ambispective study was conducted between May 2013 and March 2018. Children under 3 months of age with EV or HPeV CNS infection excluding encephalitis were included. Infants were contacted 1 year after the acute infection and their neurological development was evaluated using the Ages and Stages Questionnaire-3 (ASQ-3). If any area assessed was abnormal during the first round of tests, a second round was completed 6 to 12 months later. Forty-eight young infants with EV and HPeV CNS infection were identified: 33 (68.8%) were positive for EV and 15 (31.3%) for HPeV. At first assessment 14 out of 29 EV (48.3%) and 3 out of 15 HPeV (20%) positive cases presented some developmental concern in the ASQ-3 test. EV-positive infants showed mild and moderate alteration in all domains analyzed and HPeV-positive infants showed mild alterations only in gross and fine motor domains. Significant alterations in communication were observed in EV-positive but not in HPeV-positive infants (31 vs. 0%, p = 0.016). At second assessment 4 out of 13 EV-positive patients (30.8%) showed mild to moderate concerns in communication and gross motor function domains and 3 out of 13 (23.1%) showed significant concern in fine motor function. Although CNS infections without associated encephalitis are generally assumed to be benign our study shows that at a median age of 18 months almost half of the EV-infected infants (48.3%) and 20% of HPeV-positive infants presented some developmental concern in the ASQ-3 test. We recommend monitor the neurological development of infants during the first years of life after HPeV CNS infection and especially after EV CNS infection, even in mild cases, for an early intervention and stimulation of psychomotor development if necessary.

Challenges Faced by Rural Primary Care Providers When Caring for COPD Patients in the Western United States.

RATIONALE: Rural chronic obstructive pulmonary disease (COPD) patients have worse outcomes and higher mortality compared with urban patients. Reasons for these disparities likely include challenges to delivery of care that have not been explored. OBJECTIVE: To determine challenges faced by rural primary care providers when caring for COPD patients. METHODS: Rural primary care providers in 7 primarily western states were asked about barriers they experienced when caring for COPD patients. RESULTS: A total of 71 rural primary care medical providers completed the survey, of which 51% were physicians and 49% were advanced practice providers (APPs). A total of 61% used Global Initiative for Chronic Obstructive Lung Disease or American Thoracic Society/European Respiratory Society guidelines as an assessment and treatment resource. The presence of multiple chronic conditions and patient failure to recognize and report symptoms were the greatest barriers to diagnose COPD. A total of 89% of providers used spirometry to diagnose COPD, but only 62% were satisfied with access to spirometry. Despite recommendations, 41% of providers never test for alpha-1 antitrypsin deficiency. A total of 87% were comfortable with their ability to assess symptoms, but only 11% used a guideline-recommended assessment tool. Although most providers were satisfied with their ability to treat symptoms and exacerbations, only 66% were content with their ability to prevent exacerbations. Fewer providers were happy with their access to pulmonologists (55%) or pulmonary rehabilitation (37%). Subgroup analyses revealed differences based on provider type (APP versus physician) and location (Colorado and Kansas versus other states), but not on population or practice size. CONCLUSIONS: Rural providers face significant challenges when caring for COPD patients that should be targeted in future interventions to improve COPD outcomes.

Impact of Proactive Integrated Care on Chronic Obstructive Pulmonary Disease.

BACKGROUND: Up to 50% of chronic obstructive pulmonary disease (COPD) patients do not receive recommended care for COPD. To address this issue, we developed Proactive Integrated Care (Proactive iCare), a health care delivery model that couples integrated care with remote monitoring. METHODS: We conducted a prospective, quasi-randomized clinical trial in 511 patients with advanced COPD or a recent COPD exacerbation, to test whether Proactive iCare impacts patient-centered outcomes and health care utilization. Patients were allocated to Proactive iCare (n=352) or Usual Care ( =159) and were examined for changes in quality of life using the St George's Respiratory Questionnaire (SGRQ), symptoms, guideline-based care, and health care utilization. FINDINGS: Proactive iCare improved total SGRQ by 7-9 units (p < 0.0001), symptom SGRQ by 9 units (p<0.0001), activity SGRQ by 6-7 units (p<0.001) and impact SGRQ by 7-11 units (p<0.0001) at 3, 6 and 9 months compared with Usual Care. Proactive iCare increased the 6-minute walk distance by 40 m (p<0.001), reduced annual COPD-related urgent office visits by 76 visits per 100 participants (p<0.0001), identified unreported exacerbations, and decreased smoking (p=0.01). Proactive iCare also improved symptoms, the body mass index-airway obstruction-dyspnea-exercise tolerance (BODE) index and oxygen titration (p<0.05). Mortality in the Proactive iCare group (1.1%) was not significantly different than mortality in the Usual Care group (3.8%; p=0.08). INTERPRETATION: Linking integrated care with remote monitoring improves the lives of people with advanced COPD, findings that may have been made more relevant by the coronavirus 2019 (COVID-19) pandemic.

Sample collection for laboratory-based study of the nasal airway and sinuses: a research compendium.

BACKGROUND: Collection of biologic samples from the nasal cavity and paranasal sinuses is of critical importance to the study of infectious or inflammatory conditions that affect both upper and lower airways. Numerous techniques for the study of ex-vivo samples exist, with specific applications, strengths, and weaknesses associated with each of them. In this compendium we summarize the available methods for collection of primary human samples and incorporate expert discussion of the pros, cons, and applications associated with each technique. METHODS: An expert panel containing members of the American Rhinologic Society's Research and Grants Committee compiled this educational reference. Rationale for use and the potential advantages and disadvantages are discussed. Research protocols and key references are enumerated. RESULTS: Sampling of the nasal cavity and paranasal sinuses can be achieved through a number of methods. Nonspecific sinonasal secretions may be collected via forced exhalation, nasal lavage, and nasal spray aspiration. Targeted collection of sinonasal secretions may be achieved via endoscopic placement of absorbent matrices. Nasal cytology or collection of superficial epithelium may be completed via brushing or scraping of endonasal structures. Collection of mucosal biopsies may be completed via sinonasal explant or full-thickness biopsy. CONCLUSION: Multiple sampling techniques are available to collect biologic samples from the sinonasal cavity. These techniques differ in their ease of application, reproducibility, sample yield, and utility for different sinonasal pathologies or research goals. An appreciation of the benefits and drawbacks of each approach will allow investigators to select the techniques most appropriate for achieving research objectives.

Desarrollo psicomotor en prematuros tardíos a los dos años de edad: comparación con recién nacidos a término mediante dos herramientas diferentes / Psychomotor development in late preterms at two years of age: a comparison with full-term newborn infants using two different instruments

Introducción. Los prematuros tardíos constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarización. Objetivo. Identificar dificultades en el desarrollo neurológico a los dos años de edad. Sujetos y métodos. Se valoró el desarrollo psicomotor a los dos años de los prematuros tardíos y del grupo control a término nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lézine revisada y el cuestionario de edades y etapas para la detección de trastornos del neurodesarrollo Ages & Stages Questionnaires (ASQ-3). Resultados. Se incluyó a 88 niños. Los prematuros tardíos presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinación oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detectó las diferencias en comunicación y socioindividuales. Se identificaron como factores de riesgo para presentar alteración del desarrollo la prematuridad, para alteración del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteración del lenguaje. La correlación entre la valoración del lenguaje con la escala de Brunet-Lézine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlación de Pearson de 0,7 (p < 0,001), lo que nuestra la utilidad del cuestionario. Conclusiones. Los prematuros tardíos presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteración. La valoración del lenguaje con el cuestionario ASQ-3 puede ser útil para detectar alteraciones

Introduction. Late preterm infants currently constitute 70% of preterm infant births. They present greater comorbidity, including neurodevelopment disorders, which may not manifest until the school age. Aim. To identify the existence of difficulties in the neurodevelopment at the age of two years. Subjects and methods. The psychomotor development was performed at two years of age in late preterm infants and term control group born at our center between January and September 2014, with Brunet-Lezine Revised test and Ages & Stages Questionnaires (ASQ-3) questionnaire. Results. 88 children were included. Late preterm infants had lower scores in the language area and postural developmental. Girls achieved better results than males at global developmental age, oculo-motor coordination, language area and sociability. The ASQ-3 questionnaire detected differences in communication and socio-individual. Prematurity and male sex were identified as an independent risk factor to present a developmental disorder, prematurity for language impairment and male sex for younger developmental age and language impairment. The correlation between language assessment with the Brunet-Lezine Revised test and the ASQ-3 questionnaire was good, with a Pearson correlation coefficient of 0.7 (p < 0.001), showing the usefulness of the questionnaire. Conclusions. Late preterm infants have a lower developmental age in the language area at two years. Prematurity and male sex are risk factors for developmental disorder. Language assessment with the ASQ-3 questionnaire may be a useful tool to detect disorders and intervene early

Mutación puntual de novo en el gen KCND3 en un paciente con ataxia crónica de inicio precoz / De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia

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Neurodevelopment medium-term outcome after parechovirus infection.

AIM: Human parechoviruses (HPeV) are responsible for fever without a source (FWS), sepsis-like illness and encephalitis in neonates and children under 3 months of age. Short-term outcome is generally good, but there is great concern about medium and long- term outcome of infants after HPeV infection. The aim of this study is to assess the medium-term outcome in infants following HPeV infection without encephalitis. METHODS: Patients who suffered HPeV infection involving cerebrospinal fluid were evaluated twice using Ages and Stages Questionnaire-3 (ASQ-3). The first evaluation was conducted at least one year after the infection and the second one year later. RESULTS: Sixteen patients were evaluated in the first assessment, and three of them presented mild alterations in motor function domains. Moreover, hypotonia was observed in the neurologic exam in one case, and hemiparesis in another case. In the second assessment fifteen patients were included, and only the patient with hemiparesis continued presenting gross motor disfunction, with complete recovery of the remaining patients. INTERPRETATION: We have observed a good medium-term prognosis in infants after HPeV infections, with improvement of mild motor alterations after at-home intervention. Infants who suffer HPeV infection without encephalitis seem to have a better prognosis than those with encephalitis.

Características epidemiológicas y clínicas de los lactantes hospitalizados por infecciones por parechovirus humanos. Estudio prospectivo en España / Epidemiological and clinical characteristics of infants admitted to hospital due to human parechovirus infections: A prospective study in Spain

Introducción: Los parechovirus humanos (HPeV) son virus de la familia Picornaviridae, recientemente descritos, a los que se atribuyen cuadros de fiebre sin foco (FSF), sepsis clínica, gastroenteritis, meningitis o encefalitis fundamentalmente en lactantes pequeños. Nuestro objetivo fue describir la epidemiología y las características clínicas de las infecciones por HPeV en nuestro medio. Pacientes y métodos: Estudio multicéntrico prospectivo, llevado a cabo en 12 hospitales a nivel nacional, entre 2013-2015, en niños < 3 años con FSF, sepsis clínica o patología neurológica. Se realizó determinación de HPeV mediante RT-PCR en el Centro Nacional de Microbiología en suero, heces o líquido cefalorraquídeo. Resultados: Se analizan 47 infecciones por HPeV de un total de 850 muestras (5,52%), siendo HPeV-3 el más frecuente (29 casos), con predominio en mayo y julio, con una distribución bienal. El 57% eran neonatos y solo 2 > 3 meses. Todos los pacientes presentaron fiebre, el 45% irritabilidad, el 18,6% exantema y el 14% diarrea. No se observa ninguna alteración específica en las pruebas bioquímicas. El diagnóstico final más frecuente fue FSF (61%) seguido de sepsis clínica (29%). Aunque un 29% de los niños precisaron ingreso en cuidados intensivos, solo un paciente presentó secuelas. Conclusiones: Los HPeV circulan en nuestro país, afectando fundamentalmente a lactantes < 2 meses y se asocian a FSF y sepsis clínica, con un predominio en primavera y verano. Sería de interés implementar las técnicas moleculares de diagnóstico en todos los hospitales para reconocer y manejar adecuadamente estas infecciones (AU)

Introduction: Human parechovirus (HPeV) is one of the recently described picornaviridae viruses that have been associated with fever of unknown origin (FUO), clinical sepsis, gastroenteritis, meningitis, or encephalitis in very young infants. The aim of this study is to describe the epidemiology and clinical features of these viruses. Patients and methods: A prospective multicentre 3-year study was conducted in 12 hospitals in Spain. Out of 850 specimens examined, 47 were positive (5.52%), with HPeV-3 being the most frequent (29 cases). Infections occurred throughout the year, but mainly in May and July, and a biennial distribution was observed. More than half (57%) were neonates, and only 2 children were older than 3 months. Fever was present in all children, with irritability in 45%, rash in 18.6%, and diarrhoea in 14%. The results of biochemical tests were all in normal range. The most common final diagnosis was FUO (61%), followed by clinical sepsis (29%). Up to 29% of infants were admitted to the intensive care unit, but only one patient had sequelae. Results: Out of 850 specimens examined, 47 were positive (5.52%) for HPeV, with HPeV-3 being the most frequent (29 cases). Infections occurred throughout the year, but mainly in May and July, and a biennial distribution was observed. More than half (57%) were neonates, and only 2 children were older than 3 months. Fever was present in all children, with irritability in 45%, rash in 18.6%, and diarrhoea in 14%. The results of biochemical tests were all in normal range. The most common final diagnosis was FUO (61%), followed by clinical sepsis (29%). Up to 29% of infants were admitted to the intensive care unit, but only one patient had sequelae. Conclusions: HPeV circulates in our country, mainly during spring and summer, and affects young infants with a FUO and clinical sepsis. Molecular diagnostic techniques in all hospitals could help in improving the management of patients with these infections (AU)

[Epidemiological and clinical characteristics of infants admitted to hospital due to human parechovirus infections: A prospective study in Spain]. / Características epidemiológicas y clínicas de los lactantes hospitalizados por infecciones por parechovirus humanos. Estudio prospectivo en España.

INTRODUCTION: Human parechovirus (HPeV) is one of the recently described picornaviridae viruses that have been associated with fever of unknown origin (FUO), clinical sepsis, gastroenteritis, meningitis, or encephalitis in very young infants. The aim of this study is to describe the epidemiology and clinical features of these viruses. PATIENTS AND METHODS: A prospective multicentre 3-year study was conducted in 12 hospitals in Spain. Out of 850 specimens examined, 47 were positive (5.52%), with HPeV-3 being the most frequent (29 cases). Infections occurred throughout the year, but mainly in May and July, and a biennial distribution was observed. More than half (57%) were neonates, and only 2 children were older than 3 months. Fever was present in all children, with irritability in 45%, rash in 18.6%, and diarrhoea in 14%. The results of biochemical tests were all in normal range. The most common final diagnosis was FUO (61%), followed by clinical sepsis (29%). Up to 29% of infants were admitted to the intensive care unit, but only one patient had sequelae. RESULTS: Out of 850 specimens examined, 47 were positive (5.52%) for HPeV, with HPeV-3 being the most frequent (29 cases). Infections occurred throughout the year, but mainly in May and July, and a biennial distribution was observed. More than half (57%) were neonates, and only 2 children were older than 3 months. Fever was present in all children, with irritability in 45%, rash in 18.6%, and diarrhoea in 14%. The results of biochemical tests were all in normal range. The most common final diagnosis was FUO (61%), followed by clinical sepsis (29%). Up to 29% of infants were admitted to the intensive care unit, but only one patient had sequelae CONCLUSIONS: HPeV circulates in our country, mainly during spring and summer, and affects young infants with a FUO and clinical sepsis. Molecular diagnostic techniques in all hospitals could help in improving the management of patients with these infections.

Síndrome de piernas inquietas en pacientes diagnosticados de trastorno por déficit de atención/hiperactividad / Restless legs syndrome in patients diagnosed with attention deficit hyperactivity disorder

Introducción. El síndrome de piernas inquietas (SPI) es una patología neurológica común. Se ha relacionado con diferentes trastornos psiquiátricos, especialmente con el trastorno por déficit de atención/hiperactividad (TDAH). Objetivos. El objetivo principal fue describir la frecuencia del SPI en pacientes pediátricos diagnosticados de TDAH. Los objetivos secundarios del estudio fueron describir otros trastornos del sueño en pacientes con TDAH. Pacientes y métodos. Se realizó un estudio descriptivo prospectivo multicéntrico en nueve centros españoles de niños de 6-18 años con diagnóstico de TDAH entre enero y junio de 2015. Los datos fueron recogidos por 13 médicos investigadores mediante entrevista con el padre/cuidador y con el menor. Para valorar el grado de funcionamiento de los pacientes con TDAH se utilizó la Children’s Global Assessment Scale. Se aplicó la Sleep Disturbance Scale for Children de Bruni para el cribado del trastorno de sueño de la infancia. Resultados. Se recogió una muestra de 73 pacientes. Cinco pacientes (6,8%) cumplen criterios diagnósticos de SPI: cuatro de ellos definitivos y uno probable. Conclusiones. El SPI es una entidad frecuente en la edad adulta, pero también en la adolescencia y en la infancia. Los pacientes con TDAH tienen un riesgo aumentado de presentar de manera concomitante un SPI (AU)

Introduction. Restless legs syndrome (RLS) is a common neurological disease. RLS has been linked to various psychiatric disorders, especially with attention deficit hyperactivity disorder (ADHD). Aims. The main objective was to describe the frequency of RLS in pediatric patients diagnosed with ADHD. Secondary objectives of the study were describe other sleep disorders in ADHD patients. Patients and methods. A multicentre prospective study was conducted in nine Spanish centers. We included children aged 6-18 years diagnosed with ADHD between January and June 2015. Data were collected by 13 researchers doctors through an interview with the parent/caregiver and with the child. To assess the degree of functioning of patients with ADHD we used the Children’s Global Assessment Scale. The Sleep Disturbance Scale for Children was applied to screening sleep disorders in childhood. Results. A sample of 73 patients was collected. Five patients (6.8%) met diagnostic criteria for RLS: four of them definitive and one probable. Conclusions. RLS is a frequent condition in adulthood but also in adolescence and childhood. ADHD patients have an increased risk of an RLS (AU)

[The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services]. / Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatria.

INTRODUCTION: Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain. PATIENTS AND METHODS: Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers). BEARS survey was collected in three groups: A (2-5 years), (6-12 years), and C (> 12 years). The opinion of neuropediatricians was also collected. RESULTS: 939 questionnaires were filled. The main results in groups B and C were ADHD (32.4% and 30.1% respectively) and headache (25.1% and 27.6% respectively), whereas in group A neurodevelopmental disorders (32.4%) and epilepsy (21.4%) were the main diagnoses. Disturbances in at least one area of sleep were found in 92% of children in group A (n = 209, mean 3 years), 64.2% in group B (n = 534, mean 9.4 years) and 58.2% in group C (n = 196, mean 13.7 years). Sixty-one surveys were answered by neuropediatricians (16.75% of the total sent), estimating that less than a quarter of the patients (24.5%) suffered. Even, up to 23% of doctors claimed that the prevalence of sleep disorders was < 10%. CONCLUSIONS: 58-92% of parents-patients under follow up at a neuropediatrician office in Spain have some degree of disturbed sleep. Although most neurologists emphasize the importance of an early diagnosis and treatment of sleep disorders in children with neurological disorders, its frequency is often underestimated (risk of underdiagnosis).

TITLE: Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatria.Introduccion. Los trastornos de sueño son frecuentes en niños con trastornos neurologicos. El objetivo del estudio es conocer la opinion de los neuropediatras y su prevalencia real en España. Pacientes y metodos. Estudio transversal multicentrico (12 hospitales españoles, 15 investigadores). Se administro la encuesta Bedtime, Excesive Daytime Sleepiness, Awakenings, Regularity, Sleep-Disordered Breathing (BEARS) y se definieron tres grupos: A (2-5 años), B (6-12 años) y C (> 12 años). Asimismo, se recogio la opinion de neuropediatras de la Sociedad Española de Neuropediatria mediante una encuesta anonima. Resultados. Se recogieron 939 encuestas. Los principales motivos de consulta en los grupos B y C fueron trastorno por deficit de atencion/hiperactividad (32,4% y 30,1%, respectivamente) y cefalea (25,1% y 27,6%, respectivamente), y en el grupo A, los trastornos del neurodesarrollo (32,4%) y la epilepsia (21,4%). Al menos un area del sueño alterada se encontro en el 92,9% de niños del grupo A (n = 209; media: 3 años), en el 64,2% del grupo B (n = 534; media: 9,4 años) y en el 58,2% del grupo C (n = 196; media: 13,7 años). Se recibieron 61 encuestas respondidas por los neuropediatras (16,75% de las enviadas), quienes estimaban que los trastornos del sueño afectaban a menos de una cuarta parte de sus pacientes (24,5%), y hasta un 23% afirmo que la prevalencia era inferior al 10%. Conclusion. El 58-92% de los padres-pacientes que acuden a consultas de neuropediatria refiere tener algun aspecto del sueño alterado. Aunque la mayoria de los neuropediatras subraya la importancia de un diagnostico y tratamiento de los trastornos de sueño de los niños con trastornos neurologicos, se suele infraestimar su frecuencia e importancia.

Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatría / The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services

Introducción. Los trastornos de sueño son frecuentes en niños con trastornos neurológicos. El objetivo del estudio es conocer la opinión de los neuropediatras y su prevalencia real en España. Pacientes y métodos. Estudio transversal multicéntrico (12 hospitales españoles, 15 investigadores). Se administró la encuesta Bedtime, Excesive Daytime Sleepiness, Awakenings, Regularity, Sleep-Disordered Breathing (BEARS) y se definieron tres grupos: A (2-5 años), B (6-12 años) y C (> 12 años). Asimismo, se recogió la opinión de neuropediatras de la Sociedad Española de Neuropediatría mediante una encuesta anónima. Resultados. Se recogieron 939 encuestas. Los principales motivos de consulta en los grupos B y C fueron trastorno por déficit de atención/hiperactividad (32,4% y 30,1%, respectivamente) y cefalea (25,1% y 27,6%, respectivamente), y en el grupo A, los trastornos del neurodesarrollo (32,4%) y la epilepsia (21,4%). Al menos un área del sueño alterada se encontró en el 92,9% de niños del grupo A (n = 209; media: 3 años), en el 64,2% del grupo B (n = 534; media: 9,4 años) y en el 58,2% del grupo C (n = 196; media: 13,7 años). Se recibieron 61 encuestas respondidas por los neuropediatras (16,75% de las enviadas), quienes estimaban que los trastornos del sueño afectaban a menos de una cuarta parte de sus pacientes (24,5%), y hasta un 23% afirmó que la prevalencia era inferior al 10%. Conclusión. El 58-92% de los padres-pacientes que acuden a consultas de neuropediatría refiere tener algún aspecto del sueño alterado. Aunque la mayoría de los neuropediatras subraya la importancia de un diagnóstico y tratamiento de los trastornos de sueño de los niños con trastornos neurológicos, se suele infraestimar su frecuencia e importancia (AU)

Introduction. Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain. Patients and methods. Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers). BEARS survey was collected in three groups: A (2-5 years), (6-12 years), and C (> 12 years). The opinion of neuropediatricians was also collected. Results. 939 questionnaires were filled. The main results in groups B and C were ADHD (32.4% and 30.1% respectively) and headache (25.1% and 27.6% respectively), whereas in group A neurodevelopmental disorders (32.4%) and epilepsy (21.4%) were the main diagnoses. Disturbances in at least one area of sleep were found in 92% of children in group A (n = 209, mean 3 years), 64.2% in group B (n = 534, mean 9.4 years) and 58.2% in group C (n = 196, mean 13.7 years). Sixty-one surveys were answered by neuropediatricians (16.75% of the total sent), estimating that less than a quarter of the patients (24.5%) suffered. Even, up to 23% of doctors claimed that the prevalence of sleep disorders was < 10%. Conclusions. 58-92% of parents-patients under follow up at a neuropediatrician office in Spain have some degree of disturbed sleep. Although most neurologists emphasize the importance of an early diagnosis and treatment of sleep disorders in children with neurological disorders, its frequency is often undesestimated (risk of underdiagnosis) (AU)

A case-control study of post-traumatic endophthalmitis at a Spanish hospital.

Our aim was to identify the potential risk factors for developing post-traumatic endophthalmitis (PTE) and the possible measures of prevention. Retrospective case-control study, with 15 cases of PTE and 2 matched controls. We reviewed the medical records of the cases and their respective controls during the period 1996-2008 at a Spanish Hospital. We collected demographic data and information about the type of trauma, the potential risk factors, comorbidities, microbial isolations, antimicrobial susceptibility, administered treatments, and the visual outcome. The independent predictor factors identified for PTE were intraocular foreign body (IOFB) (OR 5.48; CI 95 % 1.05-28.7), dirty wound (OR 4.91; CI 95 % 0.96-25.3), and wound closure delays of 24 h or more (OR 5.48; CI 95 % 1.05-28.7). The probability of endophthalmitis in patients without these risk factors was 5.9 %, but ascended to 65.3 % and 90.3 %, in those patients with two and three risk factors, respectively. Infected patients presented a complication rate of 80 %, with an evisceration rate of 53 %; both were significantly associated with infection. The visual outcome was poor and related to the presence of IOFB and virulent microorganisms (Bacillus sp., filamentous fungus), visual acuity at presentation, and retinal detachment. Patients who presented an IOFB, dirty wound, and delayed wound closure were 15 times more likely to develop infection, and when infected, patients fared much worse than those non-infected. We thus recommend aggressive prophylactic measures in patients with these risk factors, adding antifungal prophylaxis when the injury is contaminated with vegetable matter.

LONG-TERM OUTCOMES OF 23-GAUGE PARS PLANA VITRECTOMY WITH INTERNAL LIMITING MEMBRANE PEELING AND GAS TAMPONADE FOR MYOPIC TRACTION MACULOPATHY: A Prospective Study.

PURPOSE: To investigate the long-term safety and efficacy of microincisional 23-gauge pars plana vitrectomy with internal limiting membrane (ILM) peeling and gas tamponade in the treatment of myopic traction maculopathy. METHODS: A prospective nonrandomized multicenter study was designed. Patients with myopic traction maculopathy without macular hole and retinal detachment were included in the study between January 2009 and May 2012. All patients underwent microincisional 23-gauge pars plana vitrectomy with ILM peeling and 12% C3F8 gas tamponade. In all cases, brilliant blue G staining of the ILM was performed. All patients were prospectively evaluated. The evolution of best-corrected visual acuity (BCVA) and macular thickness were recorded. RESULTS: Myopic traction maculopathy resolved in 28 of the 30 patients (93%) included. Mean follow-up was 33.8 ± 13 months (range, 24-60 months). Mean time of myopic traction maculopathy resolution after surgery was 2.65 ± 1.4 months. At 1 month after surgery, one patient developed a macular hole and another one a rhegmatogenous retinal detachment. After 2 years, another patient developed a retinal detachment. Statistically significant improvements in macular thickness compared with baseline were found at all follow-up visits (P < 0.001, Student's t-test). At final visit, BCVA improved significantly compared with baseline (P = 0.044, Wilcoxon's test). However, a statistically significant improvement in visual acuity was achieved only in eyes with a preoperative Snellen visual acuity ≥ 20/63 (P = 0.027). In contrast, the final BCVA of eyes with worse preoperative visual acuity (<20/63) did not improve significantly (P = 0.41, Wilcoxon's test). CONCLUSION: Microincisional 23-gauge pars plana vitrectomy with ILM peeling and gas tamponade is effective in the treatment of myopic traction maculopathy, with low postoperative complications. Globally, both BCVA and macular thickness improved significantly during the follow-up period. However, greater visual acuity improvements were only seen in eyes with preoperative BCVA equal to or better than 20/63 Snellen equivalent. Some concerns remain about the risk of macular hole formation after ILM peeling. Further studies are necessary to investigate this issue.

Estudio microbiológico de los casos de endoftalmitis infecciosa con cultivo positivo en un periodo de 13 años / Microbiological study of infectious endophthalmitis with positive culture within a 13 year-period

Introducción. Nuestros objetivos son describir el espectro microbiano y la susceptibilidad a los antimicrobianos de los casos de endoftalmitis con cultivo positivo. Materiales y métodos. Estudio retrospectivo de los pacientes con diagnóstico microbiológico de endoftalmitis atendidos en el Servicio de Oftalmología del Hospital General La Mancha Centro en el periodo 1996-2008. La identificación de los aislamientos se realizó mediante el sistema automatizado VITEK-2® y las galerías Api (BioMérieux, España S.A.). La susceptibilidad a los antimicrobianos se realizó por el sistema VITEK-2® (BioMérieux, España S.A.), tiras de E-test (MIC Test Strip, Liofilchem, Italy) y el sistema comercial Sensititre® YeastOne (Trek, Diagnostic Systems, Ohio, USA) para las especies de Candida. Resultados. De los 63 casos de endoftalmitis, 44 (70%) presentaron cultivo positivo. Tanto en las endoftalmitis postquirúrgicas (EPQ) como postraumáticas (EPT) las bacterias gram-positivas fueron mucho más frecuentes que las bacterias gram-negativas, predominando Staphylococcus epidermidis en las EPQ; en las EPT predominó Bacillus sp., aislándose además el 75% del total de hongos aislados. Las cepas aisladas presentaron una sensibilidad del 100% frente a vancomicina, ceftazidima y amikacina, mientras que la resistencia a ciprofloxacino fue mayor del 15%. El tratamiento antifúngico empírico falló en el 50% de los casos. El pronóstico visual fue significativamente menos favorable en las EPT. Conclusiones. En base a la sensibilidad de nuestros aislamientos, vancomicina, ceftazidima y amikacina constituyen buenas opciones para el tratamiento empírico de las endoftalmitis, al contrario que ciprofloxacino. Recomendamos la realización de profilaxis antifúngica después de un traumatismo del globo ocular en medio rural (AU)

Introduction. Our objectives are to describe the microbial spectrum and antimicrobial susceptibility of isolates from patients with culture-proven endophthalmitis. Material and methods. Retrospective study of patients with microbiological diagnosis of endophthalmitis treated at the Ophthalmology Department of the General Hospital La Mancha Centro in the period 1996-2008. The identification of isolates was performed using the automated VITEK-2® and Api galleries (bioMérieux, Spain SA). The antimicrobial susceptibility was performed by the VITEK-2® system (bioMérieux, Spain SA), E-test strips (MIC Test Strip, Liofilchem, Italy) and Sensititre® YeastOne trading system (Trek Diagnostic Systems, Ohio, USA) for Candida species. Results. Forty four (70%) of 63 cases of endophthalmitis were culture positive. Gram-positive bacteria were much more common than gram-negative bacteria in both postoperative endophthalmitis (POE) and post-traumatic endophthalmitis (PTE). Staphylococcus epidermidis was predominant in POE, while Bacillus sp. predominated in the PTE; furthermore, the 75% of total fungal isolates corresponded to postraumatic cases. The isolated strains showed 100% susceptibility to vancomycin, ceftazidime and amikacin, while resistance to ciprofloxacin was greater than 15%. The empirical antifungal therapy failed in 50% of cases. The visual prognosis was significantly less favorable in the PTE. Conclusions. Based on the susceptibility of our isolates, vancomycin, ceftazidime and amikacin are good choices for empirical treatment of endophthalmitis, unlike ciprofloxacin. We recommend conducting antifungal prophylaxis after penetrating ocular trauma in a rural environment (AU)