Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case. / Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico.

INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. CLINICAL CASE: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). CONCLUSIONS: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico / Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case

Resumen: Introducción: Las hidrocefalias son condiciones complejas influenciadas por factores genéticos y ambientales. Excluyendo las hidrocefalias adquiridas por infección o tumores encefálicos, las hidrocefalias congénitas de causa genética pueden ocurrir de forma aislada (hidrocefalia aislada, pura o no sindromática) o como componente de un síndrome genético definido (hidrocefalia sindromática). Objetivo: Presentar una hidrocefalia congénita sindromática con un diagnóstico co nocido, y realizar una revisión de la literatura. Caso clínico: Preescolar con diagnóstico prenatal de hidrocefalia y romboencefalosinapsis, cariotipo y estudio de TORCH normales. Al nacer se confirmaron los diagnósticos prenatales y se excluyó malformación del desarrollo cortical cerebral. En la primera semana de vida se realizó derivación ventrículo peritoneal. En una reevaluación a la edad de 4 años, la ausencia de reflejos corneales y alopecia parietal bilateral asociado a romboencefalosinapsis reunieron los criterios diagnósticos definitivos de una displasia cerebelo-trigémino dermal (Síndrome de Gómez, López-Hernández (SGLH)). Conclusiones: El SGLH es un síndro me neurocutáneo infrecuente, posiblemente una condición esporádica que está subdiagnostica da. Con las nuevas tecnologías imageneológicas y genéticas pre y post natales podemos acceder a un diagnóstico de precisión de las hidrocefalias de origen genético, en el cual la alta sospecha de equipos de especialistas clínicos es esencial. Sin el diagnóstico preciso no podemos acceder a un pronóstico a largo plazo, prevención de morbilidad agregada y un consejo genético adecuado, que son requeridos en la pediatría actual.

Abstract: Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

Ophthalmic features of spinocerebellar ataxia type 7.

PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. Sixteen SCA7 patients underwent a comprehensive ophthalmic examination, including ocular extrinsic motility testing, color vision test, and optical coherence tomography of the optic nerve and macula. Changes in the corneal endothelium, electroretinographic patterns, and a complete neurologic evaluation using the Scale for the Assessment and Rating of Ataxia (SARA) were evaluated. Correlations of endothelial cell density (ECD) with number of CAG repetitions and the SARA scores were estimated.ResultsAll patients showed various degrees of visual impairment mainly due to macular deterioration. Notably, they also presented decreased ECD. Pairwise correlations of ECD with number of CAG repeats and severity of motor symptoms quantified with the SARA scores were inverse (r=-0.46, P=0.083 and r=-0.64, P=0.009, respectively). Further analyses indicated an average ECD decrease of 48 cells/mm2 (P=0.006) per unit of change on the number of CAG repeats, and of 75 cells/mm2 (P=0.001) per unit of change on the SARA scores.ConclusionsThe results agree with previous ophthalmological findings regarding the widespread effect of SCA7 mutation on the patient's visual system. However, the results also show a significant negative correlation of decreased ECD with both CAG repetitions and SARA scores. This suggests that motor systems could degenerate in parallel with visual systems, although more research is needed to determine whether the degeneration is caused by the same mechanisms.

Brain volumetric and metabolic correlates of electroconvulsive therapy for treatment-resistant depression: a longitudinal neuroimaging study.

Recent research suggests that neuroplastic and neuroinflammatory changes may account for the mode of action of electroconvulsive therapy (ECT), although extant data do not allow for a clear disambiguation between these two hypotheses. Multimodal neuroimaging approaches (for example, combining structural and metabolic information) may help in clarifying this issue. Here we aimed to assess longitudinal changes in (i) regional gray matter (GM) volumes and (ii) hippocampal metabolite concentrations throughout an acute course of bitemporal ECT, as well as (iii) to determine the association between imaging changes and clinical improvement. We assessed 12 patients with treatment-resistant depression (TRD) at four time points (pre-treatment, after the first ECT session, after the ninth ECT session and 15 days after ECT course completion) and 10 healthy participants at two time points, 5 weeks apart. Patients with TRD showed bilateral medial temporal lobe (MTL) and perigenual anterior cingulate cortex volume increases. Left MTL volume increase was associated with (i) a hippocampal N-acetylaspartate concentration decrease, (ii) a hippocampal Glutamate+Glutamine concentration increase and (iii) significant clinical improvement. The observed findings are, in part, compatible with both neuroplastic and neuroinflammatory changes induced by ECT. We postulate that such phenomena may be interrelated, therefore reconciling the neuroplasticity and neuroinflammatory hypotheses of ECT action.

Computational models of Bitemporal, Bifrontal and Right Unilateral ECT predict differential stimulation of brain regions associated with efficacy and cognitive side effects.

BACKGROUND: Extensive clinical research has shown that the efficacy and cognitive outcomes of electroconvulsive therapy (ECT) are determined, in part, by the type of electrode placement used. Bitemporal ECT (BT, stimulating electrodes placed bilaterally in the frontotemporal region) is the form of ECT with relatively potent clinical and cognitive side effects. However, the reasons for this are poorly understood. OBJECTIVE: This study used computational modelling to examine regional differences in brain excitation between BT, Bifrontal (BF) and Right Unilateral (RUL) ECT, currently the most clinically-used ECT placements. Specifically, by comparing similarities and differences in current distribution patterns between BT ECT and the other two placements, the study aimed to create an explanatory model of critical brain sites that mediate antidepressant efficacy and sites associated with cognitive, particularly memory, adverse effects. METHODS: High resolution finite element human head models were generated from MRI scans of three subjects. The models were used to compare differences in activation between the three ECT placements, using subtraction maps. RESULTS AND CONCLUSION: In this exploratory study on three realistic head models, Bitemporal ECT resulted in greater direct stimulation of deep midline structures and also left temporal and inferior frontal regions. Interpreted in light of existing knowledge on depressive pathophysiology and cognitive neuroanatomy, it is suggested that the former sites are related to efficacy and the latter to cognitive deficits. We hereby propose an approach using binarised subtraction models that can be used to optimise, and even individualise, ECT therapies.

Measurement of fracture properties of concrete at high strain rates.

An analysis of the spalling technique of concrete bars using the modified Hopkinson bar was carried out. A new experimental configuration is proposed adding some variations to previous works. An increased length for concrete specimens was chosen and finite-element analysis was used for designing a conic projectile to obtain a suitable triangular impulse wave. The aim of this initial work is to establish an experimental framework which allows a simple and direct analysis of concrete subjected to high strain rates. The efforts and configuration of these primary tests, as well as the selected geometry and dimensions for the different elements, have been focused to achieve a simple way of identifying the fracture position and so the tensile strength of tested specimens. This dynamic tensile strength can be easily compared with previous values published in literature giving an idea of the accuracy of the method and technique proposed and the possibility to extend it in a near future to obtain other mechanical properties such as the fracture energy. The tests were instrumented with strain gauges, accelerometers and high-speed camera in order to validate the results by different ways. Results of the dynamic tensile strength of the tested concrete are presented.This article is part of the themed issue 'Experimental testing and modelling of brittle materials at high strain rates'.

The effect of adjuvant remifentanil with propofol or thiopentone on seizure quality during electroconvulsive therapy.

In order to optimise outcome to Electro Convulsive therapy (ECT), there has been a trend to utilise remifentanil as an adjunct to standard intravenous induction agents. This has allowed a reduction in the dose of anaesthetic agent, and usually an improved response to stimulation. However there have been no previous studies to ascertain whether this improvement is simply as a result of the reduced dose of anaesthetic agent or whether remifentanil itself might possess epileptogenic properties. This retrospective case-controlled study examined ECT outcomes, determined by EEG quality analysis, in patients who received ECT with or without remifentanil, where there was no dose reduction in the anaesthetic agent. There were no improvements seen in the measurements of any EEG parameter, including seizure duration. These observations suggest that remifentanil does not possess any intrinsic pro-convulsant activity and that any improvement in outcome seen with its use is as a result of dose reduction in the IV anaesthetic agent.

Placebo-controlled pilot trial testing dose titration and intravenous, intramuscular and subcutaneous routes for ketamine in depression.

OBJECTIVE: This pilot study assessed the feasibility, efficacy and safety of an individual dose-titration approach, and of the intravenous (IV), intramuscular (IM) and subcutaneous (SC) routes for treating depression with ketamine. METHOD: Fifteen treatment-refractory depressed participants received ketamine or midazolam (control treatment) in a multiple crossover, double-blind study. Ketamine was administered by IV (n = 4), IM (n = 5) or SC (n = 6) injection. Dose titration commenced at 0.1 mg/kg, increasing by 0.1 mg/kg up to 0.5 mg/kg, given in separate treatment sessions separated by ≥1 week, with one placebo control treatment randomly inserted. Mood, psychotomimetic and hemodynamic effects were assessed and plasma ketamine concentrations assayed. RESULTS: Twelve participants achieved response and remission criteria, achieved at doses as low as 0.1 mg/kg. All three routes of administration resulted in comparable antidepressant effects. Fewest adverse effects were noted with the SC route. Antidepressant response, adverse effects and ketamine concentrations were dose-related. CONCLUSION: Antidepressant response occurred at a range of doses and at <0.5 mg/kg. The dose-titration approach is a practical method for optimizing the efficacy - side-effects trade-off on an individual patient basis. This pilot study provides preliminary evidence for SC injection as a practical, feasible and efficacious treatment approach.

Ejercicio terapéutico para epicondilalgia lateral: revisión sistemática / Exercise therapy for lateral epicondylalgia: systematic review

La epicondilalgia lateral es una de las lesiones más comunes del brazo, siendo el músculo extensor radial corto del carpo (ERCB) la estructura más afectada, por movimientos repetitivos, rápidos y monótonos, principalmente afecta entre 1-3% de la población general, siendo más común en mujeres. El ejercicio terapéutico, es uno de los elementos claves en los programas diseñados para el manejo de esta condición. Se realizará una búsqueda de la evidencia a través de una revisión sistemática de ensayos clínicos aleatorizados que hayan determinado la efectividad del ejercicio terapéutico para el manejo de estos pacientes. El objetivo de esta Revisión es determinar si existe evidencia científica que avale la efectividad clínica del ejercicio terapéutico sólo o dentro de un programa de tratamiento en pacientes adultos con epicondilalgia lateral. La estrategia de búsqueda incluyó ensayos clínicos aleatorizados (ECA) y ensayos clínicos controlados (ECC); las bases de datos usadas fueron: Medline, Cinahl, PEDro, Central, Lilacs. Los resultados obtenidos fueron de treinta y seis artículos que cumplían con nuestros criterios de elegibilidad. Se concluye que existe evidencia moderada que el ejercicio terapéutico comparado con una intervención única, disminuye el dolor, mejora la funcionalidad y aumenta la fuerza libre de dolor en corto, medio y largo plazo. Existe evidencia de que el ejercicio terapéutico disminuye el dolor, y aumenta la fuerza sin dolor a corto plazo. Existe evidencia fuerte de que el ejercicio terapéutico disminuye el dolor, aumenta la fuerza y mejora la funcionalidad a corto, medio y largo plazo (AU)

The lateral epicondylalgia is one of the most common injuries of the arm; with the muscle extensor carpi radialis brevis (ERCB) affected the structure, repetitive motion, rapids and monotonous, mainly affects between 1-3% of the general population, being more common in women. Therapeutic exercise is one of the key elements in programs designed for the management of this condition. There will be a synthesis of evidence through a systematic review of randomized clinical trials that established the effectiveness of exercise therapy in the management of these patients. The aim of this review is to determine whether there is scientific evidence to support the clinical effectiveness of exercise therapy alone or in a treatment program for adult patients with LE. The search strategy included randomized clinical trials (RCTs) and controlled clinical trials (CCTs) databases were used: Medline, CINAHL, PEDro, Central, Lilacs. The results obtained were thirty-six articles that met our eligibility criteria. We conclude that there is moderate evidence shows that therapeutic exercise alone compared with a single intervention, decreases pain, improves function and increases strength pain free in short, medium and long term. There is strong evidence that exercise therapy reduces pain, increases strength and free from short-term pain. There is strong evidence that exercise therapy reduces pain, increases strength and improves functionality in the short, medium and long term (AU)

Calidad de vida en madres de lactantes portadores de sibilancias recurrentes / Quality of life in mothers of infants with recurrent wheezing

Existe escasa información sobre la calidad de vida en madres de lactantes con sibilancias recurrentes. En este estudio aplicamos una encuesta de medición de calidad de vida a dos grupos de madres de lactantes con episodios recurrentes de obstrucción bronquial controlados uno por especialistas (MRI) y otro en Atención Primaria (AP). Doscientas madres respondieron la encuesta PACQLQ de Juniper. También 42 madres de lactantes sanos respondieron el cuestionario. Los puntajes, promedios ± DS, para MRI y AP respectivamente, fueron: 4,7 ± 1,7 y 3,9 ± 1,7 en área actividad; 4,7 ± 1,4 y 3,8 ± 1,2 en área emocional y 4,6 ± 1,4 y 3,9 ± 1,2 en puntaje total. Las diferencias fueron significativas (p < 0,05) en favor de MRI. Se concluye que las madres de pacientes portadores de sibilancias recurrentes atendidos por especialistas presentan menor compromiso de índices de calidad de vida que aquellas madres atendidas por médicos generales...