Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre. / Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional.

OBJECTIVE: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. CONCLUSIONS: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.

European Fissure Sealant Guidelines: assessment using AGREE II.

BACKGROUND: Pit and fissure sealants are effective in reducing the incidence of occlusal caries, and multiple clinical practice guidelines (CPGs) have been developed for recommending their proper use. The usefulness of CPGs depends on their quality and on the rigour of the guideline development process. OBJECTIVE: A study was made to assess the quality of current European CPGs based on the Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument, which uses 23 key items rated on a 7-point scale to assess practice guideline development and the quality of reporting. METHODS: A search was conducted for fissure sealant guidelines for preventing caries in children and adults at high and low risk published in the last 10 years. Calibration was carried out before scoring to assess agreement between the appraisers using the AGREE II instrument. RESULTS: The searches identified 19 relevant guidelines, and following application of the inclusion/exclusion criteria, three guidelines were retained for evaluation. The proportion of observed agreement was calculated, expressed by the agreement separately for positive and negative ratings (PA = 0.89, NA = 0-91). The results of the guideline assessments revealed the highest score for the Irish guideline, a moderate score for the French guideline and the lowest score for the European guideline. CONCLUSIONS: Based on the AGREE II instrument, the results obtained show significant variation in the quality assessment of the three European Fissure Sealant Guidelines. Future studies should be carried out both to develop quality dental CPGs and to investigate effective ways of adopting them.

Efficacy and safety of D. pteronyssinus immunotherapy in local allergic rhinitis: a double-blind placebo-controlled clinical trial.

The effects of allergen immunotherapy (AIT) on local allergic rhinitis (LAR) are largely unknown. We conducted the first randomized, double-blind, placebo-controlled (DBPC), phase II trial of D. pteronyssinus (DP) subcutaneous AIT (DP-AIT) on LAR (clinicaltrials.gov identifier: NCT02123316). Thirty-six LAR patients received Pangramin PLUS DP or placebo for 24 months. The primary endpoints were symptoms, medication scores, and medication-free days. The secondary included skin test, serum specific IgE and IgG4, nasal allergen provocation test (NAPT), and adverse events. AIT-DP produced significant improvements in both primary and secondary endpoints vs placebo. After 12 months of AIT-DP, we detected a significant and marked increase in allergen tolerance with negative NAPT in 50% of patients, and significant increases of serum sIgG4. Immunotherapy was well tolerated; no systemic reactions were reported. This study demonstrated that AIT-DP is a safe and clinically effective treatment for LAR, confirming that LAR is a new indication for AIT.

Validation of an Argentine version of Lupus Quality of Life questionnaire.

OBJECTIVE: To determine reproducibility and validity of an Argentine version of the Lupus Quality of Life questionnaire (LupusQoL) and to determine cut-off values in the questionnaire. MATERIALS AND METHODS: One hundred and forty-seven systemic lupus erythematosus patients (American College of Rheumatology 1982/1997) were assessed from April 2014 to July 2014. Demographic and socioeconomic variables were collected, as well as SELENA/SLEDAI, Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index Score, comorbidities and treatment data. Patients completed LupusQoL-Argentine version and European Quality of Life Questionnaire (EuroQoL-5D). Internal consistency and reliability were examined. Convergent validity with EuroQoL-5D was assessed through analysis of latent classes, which established homogeneous categories from the responses of each domain of LupusQoL and for the total. RESULTS: Out of 147 patients, 93.2% were female, mean age 36.4 ± 11.1 years, mean disease duration 2.7 ± 9 years, mean SELENA/SLEDAI 2.7 ± 3 points. The cut-off point that defined good or bad quality of life was 0.739 for EuroQoL 5D and 63 for LupusQoL. Cut-off values for each LupusQoL domain were also defined, creating two classes in each of them. There was moderate to high concordance to classify quality of life (Kappa = 0.74, 95% confidence interval = 0.54, 0.95). CONCLUSION: The Argentine version of LupusQoL is a valid, reliable and reproducible instrument to assess quality of life. In this study, cut-off points that allow the classification of patients regarding whether they have good or bad quality of life are established for the first time.

TIMP4 Modulates ER-α Signalling in MCF7 Breast Cancer Cells.

Tissue inhibitor of metalloprotease 4 (TIMP4) contributes to poor prognosis in breast and other tumours. However, the mechanisms of how TIMP4 influences breast cancer cell behaviour are unknown. Our aim was to explore the signalling pathways modulated by TIMP4 in breast cancer cells. Human recombinant TIMP4 was added to MCF7 breast cancer cells and RNASeq was performed. TIMP4 RNASeq results were validated by RT-PCR. Network analyses of TIMP4-exposed cells showed that ER-α, HIF1A and TGF-ß signalling were activated, whereas FOXO3 signalling was downregulated. ER-α protein levels were increased and concordantly, promoters of TIMP4-upregulated genes were significantly enriched in oestrogen-binding sites. We concluded that TIMP4 modulates multiple signalling pathways relevant in cancer in MCF7 cells, including the ER-α cascade.

Immunologic responses to the major allergen of Olea europaea in local and systemic allergic rhinitis subjects.

OBJECTIVE: To evaluate the in vivo and in vitro responses to nOle e 1 in allergic rhinitis (AR) and local allergic rhinitis (LAR) patients sensitized to olive tree pollen (OL) confirmed by nasal allergen provocation test (NAPT). METHODS: Twelve subjects with AR, 12 with LAR and 12 subjects as control group (CG) were selected. Skin testing and NAPT with nOle e 1 were performed. Eosinophilic cationic protein (ECP) and tryptase were measured in nasal lavages before and after NAPT. Serum IgE to OL allergens was measured by ELISA. Basophil activation tests (BAT) with OL and nOle e 1 and dendritic cell maturation/proliferation studies were carried out. RESULTS: All AR (12/12) and 10/12 (83%) of LAR had a +NAPT to nOle e 1. ECP levels in nasal lavages were significantly increased after NAPT in both AR and LAR compared with CG at 15 min (P < 0.05). Serum IgE was positive only in AR. All AR had +BAT responses to OL and 10/12 to nOle e 1 (83%); 8/12 LAR (66.6%) had a +BAT to OL and 4/12 (33%) to nOle e 1, with only one subject of the CG with a +BAT to both OL and nOle e 1 (8%). Dendritic cell proliferation to nOle e 1 was increased in AR compared to LAR and CG (P = 0.019 and P = 0.001, respectively). CONCLUSION: Both AR and LAR had a similar in vivo response to nOle e 1 with release of inflammatory mediators. Specific basophil activation with OL and nOle e 1 was observed in LAR confirming previous data obtained with dust mites.

[Changes in the demand for paediatric neurology care in a spanish tertiary care hospital over a 20-year period]. / Evolución de la demanda asistencial neuropediátrica en un hospital español de tercer nivel a lo largo de 20 años.

OBJECTIVE: The purpose of this study is to determine the profile of the demand for paediatric neurology care in a Spanish tertiary hospital over the past 20 years. METHOD: We studied epidemiological data, reasons for consultation, diagnoses and complementary tests from all patients examined by our Paediatric Neurology Unit in its 20 years of service (from May 1990 to March 2010). We also reviewed data from patients whose first visit took place within the last five years (2005-2010) and compared them to data obtained from a prior study carried out in this Unit from 1990 to 1995. To compare the first 5 years (group 1) with the last 5 years (group 2), we calculated confidence intervals, P<.05, for the frequency distribution (%) in each category. RESULTS: Main reasons for consultation and principal diagnoses for the 12726 patients evaluated in the 20-year period, as well as results from group 1 (2046 patients) and group 2 (4488 patients) corresponding to first and the last 5 years of activity respectively, are presented with their confidence intervals in a series of tables. CONCLUSIONS: Variations in the reasons for consultation, diagnoses and complementary tests over time reflect changes determined by medical, scientific and social progress, and organisational changes specific to each hospital. This explains the difficulty of comparing different patient series studied consecutively, which are even more pronounced between different hospitals.

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. RESULTS: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. DISCUSSION: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.

[Association of morphological variables of acromion type with rotator cuff lesions by nuclear magnetic resonance]. / Asociación de variables morfológicas de tipo de acromion con lesiones del manguito rotador por resonancia magnética nuclear.

INTRODUCTION: the acromion is a small portion of the scapula that extends towards the anterior region from the spine of the scapula. Traditionally, the acromion is classified by the shape of its inferior surface in a sagittal plane. Acromial morphology has been found to be related to rotator cuff injury. OBJECTIVE: to determine the association between the type of acromion with a higher incidence of rotator cuff rupture. Study population: patients who come to the Traumatology and Orthopedics Service of a third level hospital at Monterrey, Mexico, due to a painful shoulder and who have undergone a simple magnetic resonance of the shoulder. MATERIAL AND METHODS: a cross-sectional, retrospective and descriptive study was carried out, in which 273 magnetic resonance studies were reviewed in patients who met the inclusion criteria. The type of acromion was reported according to the morphological classification in type I to IV and the state of the rotator cuff: without rupture, partial rupture or complete rupture, making a comparison between right and left shoulder. RESULTS: in this study we found a value of p = 0.473 which concludes that there is no relation between the type of acromion and the injury of the rotator cuff. CONCLUSION: in the present study, unlike what has been published in the literature, it was found that type II acromion was the one that was associated in most cases with a rotator cuff tear.

INTRODUCCIÓN: el acromion es una pequeña porción de la escápula que se extiende hacia la región anterior desde la espina de la escápula. Tradicionalmente se clasifica al acromion por la forma de su superficie inferior en un plano sagital. Se ha encontrado que la morfología acromial está rela­cionada con la lesión del manguito rotador. OBJETIVO: determinar la asociación entre el tipo de acromion con una mayor incidencia de ruptura de manguito rotador. Población de estudio: pacientes que acudan al Servicio de Traumatología y Ortopedia de un hospital privado de tercer nivel en la ciudad de Monterrey por hombro doloroso y a los cuales se les haya realizado una resonancia magnética simple de hombro. MATERIAL Y MÉTODOS: se realizó un estudio de tipo transversal, retrospectivo y descriptivo, en el cual se revisaron 273 estudios de resonancia magnética en pacientes que cumplieran los criterios de inclusión. Se reportó el tipo de acromion según la clasificación morfológica en tipo I a IV y el estado del manguito rotador: sin ruptura, ruptura parcial o ruptura completa, haciendo una comparación entre hombro derecho e izquierdo. RESULTADOS: se obtuvo un valor de p = 0.473 por lo que se concluye que no existe una asociación entre el tipo de acromion y el estado del manguito rotador. CONCLUSIÓN: en el presente estudio, a diferencia de lo publicado en la literatura, se obtuvo que el acromion tipo II fue al que se asoció la mayoría de los casos con ruptura del manguito rotador.

Environmental and health implications of Pb-bearing particles in settled urban dust from an arid city affected by Pb-Zn factory emissions.

Metal-rich particles originating from non-ferrous metallurgical activities are the primary source of atmospheric metals in urban environments. These particles vary in size, morphology, and elemental compositions and they undergo weathering processes that alter their composition and affect their toxicity. This study focuses on lead (Pb)-rich particles in settled urban dust within an arid and dusty city, Torreón in North Mexico, affected by Met-Mex Peñoles complex, one of the world's largest Ag-Cd-Pb-Zn smelting and refining facilities in operating since 1901. Torreón is characterized by arid conditions, temperature fluctuations, and low humidity. Dry atmospheric particles were collected in 2015 and 2017 from Torreón's urban area within a 3 km radius of the Met-Mex Peñoles complex. We used various analytical techniques, including scanning electron microscopy (SEM), Energy Dispersive X-ray Spectroscopy (EDS), and X-ray powder diffraction (XRD) to determine the size, morphology, elemental composition and mineralogy of Pb-bearing particles. Our analysis revealed a range of Pb-bearing particle sizes and morphologies with varying Pb (0.3 to 51-87.2%) and other element contents, such as As (0.04 to 1-3.4%), Cd (0.4 to 3.3-5.1%), Cu (0.51-14.1%), Hg (ND-0.6%), and Zn (1.7 to 79-90.3%). XRD analysis confirmed the presence of Pb and Zn sulfides, Pb carbonates, Pb sulfate, and Pb oxides in urban dust, both as individual particles and agglomerates. Primary Pb minerals were linked to fugitive feed concentrates and smelter flue gas at Met-Mex Peñoles, while secondary Pb minerals, like Pb carbonates, Pb sulfate, and Pb oxides, resulted from direct emissions and weathering processes. Compared to galena, secondary Pb minerals exhibit higher chemical availability in the environment, posing greater risks to the environment and human health. As the particles analyzed are presumed to be resuspended rather than freshly emitted by Met-Mex, the presence of secondary Pb minerals in settled urban dust is predominantly linked to weathering processes. The physical and chemical transformations in Pb-rich particles contribute to increased Pb bioavailability and toxicity in urban dust, with substantial implications for environmental and human health. These findings highlight the potential consequences of weathered Pb-rich particle in urban areas, particularly in the arid and dusty city of Torreón.

Prevalence and clinical relevance of local allergic rhinitis.

BACKGROUND: Evidence demonstrates the existence of local allergic rhinitis (LAR) in nonatopic patients, although its prevalence in the rhinitis population remains unknown. The aim, therefore, of this study was to evaluate the prevalence, clinical characteristics, and severity of LAR in a Spanish rhinitis population, compared with patients having classical allergic rhinitis (AR) with systemic atopy or nonallergic rhinitis (NAR). METHODS: A group of 452 adult rhinitis patients were randomly selected from a total of 3860 who attended our allergy service over 1 year. A clinical questionnaire, skin prick test (SPT), spirometry, and serum total and specific IgE (sIgE) were evaluated. A nasal allergen provocation test with multiple aeroallergens (NAPT-M), including Dermatophagoides pteronyssinus, pollens, alternaria, and dog epithelia, was performed in patients with negative SPT and serum sIgE. RESULTS: A total of 428 patients completed the study; 24 were excluded because of nasal hyper-reactivity. LAR was diagnosed in 25.7%, AR in 63.1%, and NAR in 11.2%. The LAR and AR patients had a similar clinical profile: a nonsmoking woman with severe, persistent perennial rhinitis frequently associated with conjunctivitis and asthma. More than 36% of LAR patients reported rhinitis onset in childhood. NAPT-M detected aeroallergen polysensitization in 37.3% of the LAR patients. Dermatophagoides pteronyssinus was the main sensitizing aeroallergen in LAR and AR (60% vs 54%, P > 0.05). CONCLUSIONS: Local allergic rhinitis is a prevalent entity in patients evaluated with rhinitis. Persistent and severe symptoms associated with conjunctivitis and/or asthma and polysensitization were likely to be detected in LAR and AR.

[Pain control with local infiltration transsurgical in postoperative total knee replacement]. / Control del dolor con infiltración local transquirúrgica en postoperados de reemplazo total de rodilla.

INTRODUCTION: 15-20% of patients undergoing total knee arthroplasty were not satisfied and the most common causes were residual pain and limited function. Epidural analgesia or peripheral nerve blocks have traditionally been used as analgesia. OBJECTIVE: To evaluate the efficacy of infiltration with epinephrine, ketorolac, morphine and ropivacaine solution in postoperative total knee replacement patients. MATERIAL AND METHODS: Observational, cross-sectional, retrospective and analytical cohort study. We included patients with gonarthrosis aged 18 to 100 years scheduled for total knee replacement surgery from May 2018 to August 2021; with documentation of their clinical, demographic, baseline, pre-surgical and postoperative pain data at 24 hours. Infiltrated patients were compared with those receiving intravenous analgesia. RESULTS: A total of 66 patients with a mean age of 69.1 were included;65.2% were women. Forty-three point nine percent had left-sided involvement, 50% had a classification of Kellgren-Lawrence III and 31.8% had a grade IV. Thirty-six patients (54.5%) formed the control group, while 30 (45.5%)received the intervention with the analgesic cocktail. With regard to pain,a lower median pain was found by visual analog scale in patients with the intervention (2 vs 8 points, p < 0.001); most with the cocktail they found no pain (66.7%) or mild pain (23.3%) and no patient in the control group reached it (p < 0.001). All patients of the control group required rescue analgesia, while only 30% of the intervention group used it (p < 0.001). CONCLUSION: The use of trans-surgical local infiltration decreases postoperative pain and the requirement of analgesics and rescue analgesia during the first 24 hours.

INTRODUCCIÓN: De 15-20% de los pacientes sometidos a una artroplastía total de rodilla no quedaron satisfechos y las causas más comunes fueron dolor residual y función limitada. De manera tradicional se ha utilizado analgesia epidural o bloqueos nerviosos periféricos como analgesia. OBJETIVO: Evaluar la eficacia de la infiltración con solución de epinefrina, ketorolaco, morfina y ropivacaína en pacientes postoperados de reemplazo total de rodilla. MATERIAL Y MÉTODOS: Estudio de cohorte observacional, transversal, retrospectivo y analítico. Se incluyeron pacientes con gonartrosis de 18 a 100 años de edad programados para cirugía de reemplazo total de rodilla de Mayo de 2018 a Agosto de 2021, con documentación de sus datos clínicos, demográficos, basales, prequirúrgicos y dolor postoperatorio a las 24 horas. Se compararon pacientes infiltrados con los que recibieron analgesia intravenosa. RESULTADOS: Se incluyeron un total de 66 pacientes con una media de edad de 69.1; 65.2% fueron mujeres. Cuarenta y tres punto nueve por ciento tuvieron afectación del lado izquierdo, 50% tuvieron una clasificación de Kellgren-Lawrence III y 31.8% tuvieron un grado IV. Treinta y seis pacientes (54.5%) formaron el grupo control, mientras que 30 (45.5%) recibieron la intervención con el cóctel analgésico. Con respecto al dolor, se encontró una menor mediana del dolor por escala visual análoga en pacientes con la intervención (2 vs 8 puntos, p < 0.001); la mayoría con el cóctel se encontraron sin dolor (66.7%) o dolor leve (23.3%) y ningún paciente del grupo control lo alcanzó (p < 0.001). Todos los pacientes del grupo control requirieron analgesia de rescate, mientras que sólo en 30% del grupo de intervención se utilizó (p < 0.001). CONCLUSIÓN: El uso de infiltración local transquirúrgica disminuye el dolor postoperatorio y el requerimiento de analgésicos y analgesia de rescate durante las primeras 24 horas.

[Interposition hemiarthroplasty using extensor hallucis brevis for the treatment of hallux rigidus with lateral unicompartmental involvement: a case report]. / Hemiartroplastía por interposición utilizando el extensor hallucis brevis para el tratamiento de hallux rigidus con involucro unicompartimental lateral: reporte de un caso.

Hallux rigidus is the degenerative pathology of the metatarsophalangeal joint of the hallux. This pathology causes pain and decreased movement. There are multiple surgical treatments for this pathology, all with their respective indications. We present the case of a 54-year-old patient diagnosed with hallux rigidus who had only the lateral aspect of the metatarsal head affected. This patient was treated with a novel surgical procedure, performing an interposition hemiarthroplasty using the hallucis brevis extender associated with a cheilectomy and exostectomy. The patient had a favorable clinical evolution with improvement evidenced by clinical scales, with resolution of the symptoms and without complications. Interposition hemiarthroplasty using the extensor hallucis brevis is a successful joint and movement preservation treatment for hallux rigidus in young patients with lateral unicompartmental involvement of the metatarsal head, in whom it is important to preserve movement.

Hallux rigidus es la patología degenerativa de la articulación metatarsofalángica del hallux. Esta patología provoca dolor y disminución en el movimiento. Existen múltiples tratamientos quirúrgicos para esta patología, todas con sus respectivas indicaciones. Presentamos el caso de un paciente de 54 años de edad con el diagnóstico de hallux rigidus quien tenía afectación únicamente del aspecto lateral de la cabeza del metatarsiano. Este paciente fue tratado con un procedimiento quirúrgico novedoso, se realizó una hemiartroplastía de interposición utilizando el extensor hallucis brevis asociado a una queilectomía y exostectomía. El paciente tuvo una favorable evolución clínica con mejoría evidenciado por escalas clínicas, con resolución de la sintomatología y sin complicaciones. La hemiartroplastía de interposición utilizando el extensor hallucis brevis es un tratamiento exitoso de preservación articular y del movimiento para el hallux rigidus en pacientes jóvenes en los que hay afectación unicompartimental lateral de la cabeza metatarsiana, en quienes es importante preservar el movimiento.

Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?

INTRODUCTION: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. MATERIAL AND METHODS: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. RESULTS: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. DISCUSSION: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol. / Neuritis óptica en pediatría: experiencia en 27 años y protocolo de actuación.

INTRODUCTION AND OBJECTIVE: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents. MATERIAL AND METHODS: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet. RESULTS: Our neuropaediatrics department has assessed 20,744 patients in the last 27 years, of whom 14 were diagnosed with ON: 8 had isolated ON, 1 had multiple sclerosis (MS), 1 had clinically isolated syndrome (CIS), 3 had acute disseminated encephalomyelitis, and 1 had isolated ON and a history of acute disseminated encephalomyelitis one year previously. Patients' age range was 4-13 years; 50% were boys. Eight patients were aged over 10: 7 had isolated ON and 1 had MS. Nine patients had bilateral ON, and 3 had retrobulbar ON. MRI results were normal in 7 patients and showed involvement of the optic nerve only in 2 patients and optic nerve involvement + central nervous system demyelination in 5. Thirteen patients received corticosteroids. One patient had been vaccinated against meningococcus-C the previous month. Progression was favourable, except in the patient with MS. A management protocol and fact sheet are provided. CONCLUSIONS: ON usually has a favourable clinical course. In children aged older than 10 years with risk factors for MS or optic neuromyelitis (hyperintensity on brain MRI, oligoclonal bands, anti-NMO antibody positivity, ON recurrence), the initiation of immunomodulatory treatment should be agreed with the neurology department. The protocol is useful for diagnostic decision-making, follow-up, and treatment of this rare disease with potentially major repercussions. The use of protocols and fact sheets is important.

[Correction of the pre- and post-surgical rotational component of the first metatarsal secondary to modified Chevron osteotomy]. / Corrección del componente rotacional prequirúrgico y postquirúrgico del primer metatarsiano secundario a osteotomía de Chevron modificado.

INTRODUCTION.: Hallux valgus (HV) is a complex forefoot pathology, in which interest has recently been shown in the distal rotational component (CR) of the first metatarsal due to its relationship with postsurgical relapses of the deformity. The selection of surgical technique is controversial with little current literature on the correction of rotation with common osteotomies. The aim of this study is to evaluate preoperative and postoperative radiological characteristics regarding CR of the first metatarsal using long Chevron osteotomy for moderate to severe HV. MATERIAL AND METHODS: An observational, prospective and comparative study was carried out in which the CR of the first metatarsal was evaluated in nine feet belonging to six patients with a mean age of 45 years. The RC was evaluated based on the proximal metaphysis of the first metatarsal in axial fluoroscopies of unloaded metatarsals and standing AP. Measurements were performed by an Orthopedic and Traumatology resident and a Foot and Ankle Surgery subspecialist. RESULTS: Significant differences (p = 0.05) were documented in the preoperative and postoperative pronation angle when using long Chevron osteotomy. The functional result of the evaluated patients was excellent at 11 months of follow-up. CONCLUSIONS: Radiologically, the rotational correction is variable and has not previously been reported in the literature with this osteotomy. We establishes the morphological bases for the performance of subsequent studies in the evaluation of head rotation of the 1st metatarsal with different osteotomies.

INTRODUCCIÓN: Hallux valgus (HV) es una patología compleja del antepié, recientemente se ha mostrado interés en el componente rotacional (CR) distal del primer metatarsiano por su relación con recidivas postquirúrgicas de la deformidad. La selección de la técnica quirúrgica es controversial con escasa literatura acerca de la corrección de rotación con osteotomías comunes. Nuestro objetivo es evaluar características radiológicas prequirúrgicas y postquirúrgicas respecto a CR del primer metatarsiano en la cirugía de corrección de HV moderado a severo usando osteotomía de Chevron largo. MATERIAL Y MÉTODOS: Estudio observacional, prospectivo y comparativo en el que se evaluó el CR del primer metatarsiano en nueve pies pertenecientes a seis pacientes con una edad media de 45 años. El CR fue evaluado con base en la metáfisis proximal del primer metatarsiano en fluoroscopías axiales sin carga y AP de pie. Las mediciones se realizaron por un residente de ortopedia y traumatología y un subespecialista en cirugía de pie y Tobillo. RESULTADOS: Se documentaron diferencias significativas (p = 0.05) en el ángulo de pronación prequirúrgico y postquirúrgico al utilizar osteotomía de Chevron largo. El resultado funcional de los pacientes evaluados fue excelente a 11 meses de seguimiento. CONCLUSIONES: Radiológicamente, la corrección rotacional es variable y previamente no se ha reportado en la literatura con esta osteotomía. Se establecen bases morfológicas para la realización de estudios posteriores en la evaluación de rotación de cabeza del primer metatarsiano con diferentes osteotomías.

[Benign intracranial hypertension: experience over 18 years]. / Hipertensión intracraneal benigna. Experiencia en 18 años.

INTRODUCTION: There are transient intracranial hypertension cases, recognizable by bulging fontanelle in infants and by papilloedema in children. We present our experience in benign intracranial hypertension (BIH) cases, excluding traumatic brain injuries, encephalitis and meningitis. RESULTS: Among the entire neuropaediatric database, with 10,720 children in 18 years, 31 cases had the diagnosis of BIH. Sixteen aged between 2.3 and 8.9 months (75% males), all of them with transient bulging fontanelle, and 15 aged between 4.4 and 13.7 years (73.3% females), all of them with papilloedema which was subsequently resolved. A total of 75% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was 1 case associated with excessive vitamin A intake and 1 mastoiditis. Transfontanelle ultrasonography or CT was performed on all infants and CT or MRI in every child. Lumbar puncture was also performed on 7 infants and on 13 children. Infants developed favourably in a few days, and children did so between 1 week and 5 months, some with treatment. DISCUSSION: BIH usually has a favourable outcome, although it may take longer in children than in infants, but it can have serious visual repercussions, even blindness, so ophthalmological control is necessary. It is normally diagnosed by exclusion of other intracranial hypertension causes. MRI and lumbar puncture must be done on all children or infants who do not progress favourably. Acetazolamide and furosemide, corticosteroids, repeated lumbar punctures and optic nerve sheath fenestration should be considered in those who do not progress well.

Acute cerebellitis in paediatric patients: Our experience. / Cerebelitis aguda en Pediatría: nuestra experiencia.

INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression. RESULTS: Nine children met the diagnostic criteria for cerebellitis. Headache, vomiting, and drowsiness were the most frequent initial symptoms; ataxia, dysarthria, and dysmetria were the most common cerebellar signs. Cerebellitis was diagnosed with magnetic resonance imaging, which revealed cerebellar involvement (unilateral or bilateral); computerised tomography images either were normal or showed indirect signs such as triventricular hydrocephalus due to extrinsic compression of the aqueduct of Sylvius. Corticosteroids were the most commonly used treatment (6 patients). One patient required surgery due to triventricular hydrocephalus. Eight patients recovered completely, whereas the ninth displayed neurological sequelae. CONCLUSIONS: Cerebellitis is a medical and surgical emergency; diagnosis requires a high level of suspicion and an emergency brain magnetic resonance imaging study. It is a clinical-radiological syndrome characterised by acute or subacute encephalopathy with intracranial hypertension and cerebellar syndrome associated with T2-weighted and FLAIR hyperintensities in the cerebellar cortex (unilaterally or bilaterally) and possible triventricular dilatation. Treatment is based on high-dose corticosteroids and may require external ventricular drain placement and decompressive surgery.

Methodology for the non-destructive characterization of jadeite-jade for archaeological studies.

The present paper proposes a methodology that complies with the requirements of identifying and characterizing jadeite (and its associated minerals) for archaeological studies, avoiding the acquisition of samples and ensuring the integrity of the object. The methodology exploits a carefully selected array of techniques (optical microscopy, UV fluorescence photography, X-Ray digital radiography, infrared and Raman spectroscopies, X-Ray fluorescence and particle induced X-ray emission spectroscopies) that, despite not definitively replacing laboratory procedures, provides a first mineral and elemental evaluation of jadeite archaeological objects. The proposed methodology was applied in the characterization of twelve different jade tones, allowing the identification of major - jadeite, albite and omphacite - and minor - pumpellyite, actinolite, analcime, rutile, grossular and titanite - mineral phases. To display its advantages and limitations, this methodology was also compared with a characterization employing specific gravity measurements and with an invasive methodology based on petrography and scanning electron microscopy with energy dispersive spectroscopy.

[Neurofibromatosis type 1 and attention-deficit disorder. Our current experience]. / Neurofibromatosis tipo 1 y trastorno por deficit de atencion. Nuestra experiencia actual.

INTRODUCTION: Patients with neurofibromatosis type 1 (NF1) have a high predisposition to develop attention-deficit disorder. The aim of this study is to determine the prevalence of NF1 patients with attention-deficit/hyperactivity disorder (ADHD) diagnosis attending our Child Neurology Department. We assess patient adherence and medical treatment outcomes. PATIENTS AND METHODS: Identification of patients with NF1 being followed up from December 31 2015 to June 31 2017 with ADHD diagnosis. Clinical and treatment data were collected. RESULTS: 56 patients with NF1 were enrolled in the study with a mean age of 9.83 ± 4.17 years. 23 patients (41%) were diagnosed with ADHD, mean age at ADHD diagnosis of 7.53 ± 2.46 years. School-age children with ADHD represented 48.8% of cases. All but one of the children received treatment, mean duration of treatment was 3.85 ± 3.04 years. 19 out of 22 patients (86%) continue medical treatment. Positive effects were reported by eleven patients with a moderate response in eight patients. CONCLUSIONS: Prevalence of ADHD in patients with NF1 is high. Early diagnosis and treatment of ADHD in patients with NF1 is highlighted by this study. Our study reveals good patient adherence and medical treatment outcomes in most patients.

TITLE: Neurofibromatosis tipo 1 y trastorno por deficit de atencion. Nuestra experiencia actual.Introduccion. Los pacientes con neurofibromatosis de tipo 1 (NF1) tienen una gran predisposicion a desarrollar deficit de atencion. El objetivo del estudio es determinar los pacientes controlados en nuestra seccion de neuropediatria con NF1 y diagnostico de trastorno por deficit de atencion/hiperactividad (TDAH), valorando la adhesion y respuesta al tratamiento. Pacientes y metodos. Se identifica a los pacientes afectos de NF1 que siguen controlados entre el 31 de diciembre de 2015 y el 31 de junio de 2017, y de ellos, los que presentan diagnostico de TDAH, revisando datos clinicos y de tratamiento. Resultados. Se ha controlado a 56 pacientes afectos de NF1, con una edad media de 9,83 ± 4,17 años. De ellos, 23 (41%) presentan diagnostico clinico de TDAH, con una edad media de 7,53 ± 2,46 años en el momento del diagnostico. El 48,8% de los niños en edad escolar esta afecto de TDAH. Todos los pacientes menos uno recibieron tratamiento con estimulantes, con un tiempo medio de tratamiento de 3,85 ± 3,04 años. Continuan con el tratamiento 19 pacientes de los 22 tratados (86%). Once casos refieren una clara mejoria, y ocho, una mejoria moderada. Conclusiones. El TDAH es muy prevalente en niños con NF1. Se destaca la importancia de la identificacion y el tratamiento del TDAH en niños afectos de NF1. Nuestra revision muestra una buena adhesion al tratamiento con estimulantes, con mantenida buena respuesta en la mayor parte de los casos.