Automated assays for trace elements and ferritin measurement in saliva of pigs: Analytical validation and a pilot application to evaluate different iron status.

The aim of this study was to validate automated methods to measure iron (Fe), zinc (Zn), copper (Cu) and ferritin in pig saliva samples. A complete analytical validation was performed of all assays. In addition, these methods were applied to saliva of Fe supplemented (n = 22) and non-supplemented (n = 20) piglets. All assays were able to measure these biomarkers in pig saliva with adequate precision, accuracy and high sensitivity and, in case of trace elements without needing a deproteinization pre-process. The group of piglets supplemented with Fe presented significantly higher levels of ferritin and Zn in saliva. In conclusion, the automated assays evaluated were able to measure Fe, Zn, Cu and ferritin in saliva of pigs, and in case of trace elements, they have the advantage of not needing a deproteinization pre-treatment and thus these analytes can be measured in a simple and fast manner.

Short telomeres drive pessimistic judgement bias in zebrafish.

The role of telomerase reverse transcriptase has been widely investigated in the contexts of ageing and age-related diseases. Interestingly, decreased telomerase activities (and accelerated telomere shortening) have also been reported in patients with emotion-related disorders, opening the possibility for subjective appraisal of stressful stimuli playing a key role in stress-driven telomere shortening. In fact, patients showing a pessimistic judgement bias have shorter telomeres. However, in humans the evidence for this is correlational and the causal directionality between pessimism and telomere shortening has not been established experimentally yet. We have developed and validated a judgement bias experimental paradigm to measure subjective evaluations of ambiguous stimuli in zebrafish. This behavioural assay allows classification of individuals in an optimistic-pessimistic dimension (i.e. from individuals that consistently evaluate ambiguous stimuli as negative to others that perceive them as positive). Using this behavioural paradigm we found that telomerase-deficient zebrafish (tert-/-) were more pessimistic in response to ambiguous stimuli than wild-type zebrafish. The fact that individuals with constitutive shorter telomeres have pessimistic behaviours demonstrates for the first time in a vertebrate model a genetic basis of judgement bias.

Estudio LAM: conducta y calidad de vida en pacientes diagnosticados de epilepsia tratados con lacosamida / LAM study: Effects of lacosamide on behaviour and quality of life in patients with epilepsy

Introducción: La comorbilidad psiquiátrica es común en epilepsia, de ahí la importancia de considerar en qué medida los fármacos antiepilépticos pueden influir en el estado de ánimo. El objetivo de este trabajo es analizar el efecto de lacosamida en la calidad de vida y en la conducta del paciente epiléptico en la práctica clínica. Métodos: Estudio multicéntrico, observacional y prospectivo en pacientes diagnosticados de epilepsia, mal controlados que recibieron tratamiento adyuvante con lacosamida. Mediante 4 visitas durante 12 meses se valoró el impacto del fármaco en la calidad de vida y el estado de ánimo utilizando el cuestionario de calidad de vida QOLIE-10, la escala hospitalaria de ansiedad y depresión (HADS) y la escala de impulsividad de Barratt (BIS-11), además se determinó su eficacia y seguridad. Resultados: Se incluyeron 55 pacientes, edad media 47,1 ± 18,4 años; porcentaje inicial de comorbilidad psiquiátrica 34,5% y número medio de crisis/mes previo 3,6 ± 4,3. Las escalas QOLIE-10 y HADS reflejaron mejoras estadísticamente significativas en pacientes que partían de una situación basal desfavorable (ansiedad, depresión y/o baja calidad de vida). La escala BIS-11 no detectó la aparición de conductas impulsivas durante el seguimiento. Tras 12 meses de tratamiento el 51,9% de los pacientes estuvo sin crisis, y un 77,8% presentó una educción ≥ 50%. La mayoría de efectos adversos fueron leves, obligando a retirar el fármaco en 10 casos (18,2%). Conclusiones: Lacosamida ofrece un perfil de eficacia y seguridad favorable, y podría constituir una opción terapéutica útil en pacientes con epilepsia y comorbilidad psiquiátrica

Introduction: Psychiatric comorbidities are common in epileptic patients, and evaluating the impact of antiepileptic drugs on patients’ moods is therefore essential. The aim of this study is to assess the effects of lacosamide on behaviour and quality of life in people with epilepsy. Methods: We conducted a multicentre prospective observational study of poorly-controlled epileptic patients who received lacosamide as an adjuvant treatment. Patients were evaluated on 4 occasions during a 12-month period. The impact of lacosamide on patients’ mood and quality of life was assessed with the Quality of Life in Epilepsy Inventory-10 (QOLIE-10), the Hospital Anxiety and Depression Scale (HADS), and the Barratt Impulsiveness Scale (BIS-11). As a secondary objective, we evaluated the effectiveness and safety of lacosamide. Results: We included 55 patients with a mean age of 47.1 ± 18.4 years. At baseline, 34.5% of the patients had psychiatric comorbidities; the mean number of crises in the previous month was 3.6 ± 4.3. The QOLIE-10 and HADS scales revealed statistically significant improvements in patients with a poor baseline condition (anxiety, depression, and/or poor quality of life). The BIS-11 scale detected no impulsive behaviour during follow-up. After 12 months of treatment, 51.9% of the patients were seizure-free and 77.8% experienced a reduction of at least 50% in seizure frequency. Adverse effects were mild in most cases; lacosamide was discontinued in 10 patients (18.2%)

LAM study: Effects of lacosamide on behaviour and quality of life in patients with epilepsy. / Estudio LAM: conducta y calidad de vida en pacientes diagnosticados de epilepsia tratados con lacosamida.

INTRODUCTION: Psychiatric comorbidities are common in epileptic patients, and evaluating the impact of antiepileptic drugs on patients' moods is therefore essential. The aim of this study is to assess the effects of lacosamide on behaviour and quality of life in people with epilepsy. METHODS: We conducted a multicentre prospective observational study of poorly-controlled epileptic patients who received lacosamide as an adjuvant treatment. Patients were evaluated on 4 occasions during a 12-month period. The impact of lacosamide on patients' mood and quality of life was assessed with the Quality of Life in Epilepsy Inventory-10 (QOLIE-10), the Hospital Anxiety and Depression Scale (HADS), and the Barratt Impulsiveness Scale (BIS-11). As a secondary objective, we evaluated the effectiveness and safety of lacosamide. RESULTS: We included 55 patients with a mean age of 47.1±18.4 years. At baseline, 34.5% of the patients had psychiatric comorbidities; the mean number of crises in the previous month was 3.6±4.3. The QOLIE-10 and HADS scales revealed statistically significant improvements in patients with a poor baseline condition (anxiety, depression, and/or poor quality of life). The BIS-11 scale detected no impulsive behaviour during follow-up. After 12 months of treatment, 51.9% of the patients were seizure-free and 77.8% experienced a reduction of at least 50% in seizure frequency. Adverse effects were mild in most cases; lacosamide was discontinued in 10 patients (18.2%). CONCLUSIONS: Lacosamide is a safe and effective treatment option for patients with epilepsy and psychiatric comorbidities.

Treatment of fibrous dysplasia of the proximal femur by means of pedicled iliac crest bone graft: a case report.

In this report, we present a case of treatment of fibrous dysplasia (FD) of the proximal femur with the pedicled iliac crest bone graft. An 18-year-old patient presented with hip pain and polyostotic dysplasia with involvement of the proximal femur and a history of pathological fracture. The patient was operated on using vascularized bone graft from the iliac crest and osteosynthesis with Dynamic Hip Screw (DHS®). With vascularized bone graft, we found an improvement on X-ray with no reabsorption, and with osteosynthesis, we controlled the pain and prevented pathological fracture and progression of the deformity. Several other studies where the pedicled iliac crest bone graft has been successfully used for the management of defects in the proximal femur (osteonecrosis of the femoral head and pseudarthrosis of the femoral head) can be found in the medical literature. However, the pedicled iliac crest bone graft in a patient with FD of the proximal femur is unique.

Tumor miofibroblástico inflamatorio del plexo braquial / Inflammatory myofibroblastic tumor of the brachial plexus

Se presenta un caso de tumor miofibroblástico inflamatorio del plexo braquial en un varón de 8 años de edad. La resonancia magnética nuclear (RMN) revela la imagen de una masa con un comportamiento agresivo y que englobaba todo el plexo braquial y la arteria y vena subclavia. Se realizó una extirpación completa por el abordaje transclavicular y transesternal. Este abordaje eleva un colgajo osteomuscular que compromete la porción medial de la clavícula, parte del manubrio esternal, la articulación esternoclavicular y el músculo esternocleidomastoideo. Se describe y discute este abordaje que da acceso a todo el plexo braquial y a los grandes vasos permitiendo un excelente control de los mismos. El estudio histológico reveló una proliferación neoplásica consistente en células fusiformes miofibroblásticas asociada a un infiltrado inflamatorio que incluye células plasmáticas, linfocitos y algunas células gigantes tipo osteoclasto. Por inmunohistoquímica existía positividad a la actina, vimentina y a ALK-1 (AU)

The author report the presence of an unpublished inflammatory myofibroblastic tumor of the brachial plexus in a 8 years old boy. Magnetic resonance (MR) images revealed a fusiform mass surronding both subclavian vessels and nerve trunks, divisions and fascicles of the whole left brachial plexus. To obtain a definitive treatment we performed a resection using an trans-clavicular and trans-sternal approach and removed the tumor completely. This approach is based on the elevation of the osseomuscular flap, which comprises the medial portion of clavicle with the sternoclavicular joint, vertex of manubrium and the sternocleidomastoid muscle. This allows a total exposure of the brachial plexus and excelent vascular control. Histological study revealed neoplasic proliferation consisted in spindled myofibroblastic cells, mostly inmunohistochemically positive for actin, vimentin and ALK-1, associated with inflammatory infiltrate including plasma cells, lymphocytes and some giant cells osteoclastic type (AU)

[Stiff-man syndrome. Presentation of a new case]. / Síndrome de la persona rígida. Presentación de un nuevo caso.

INTRODUCTION: The stiff-man syndrome (SPR) is a rare neurological condition characterized by the presence of marked, involuntary rigidity of the axial muscles and limbs, together with intense painful muscle spasms which characteristically occur following external stimuli such as sudden noises, brusque movements or emotional stimuli. Symptoms are markedly improved by sleep and by diazepam. The aetiology is unknown, although it is associated with certain auto-immune disorders, particularly diabetes mellitus (DM) and others such as thyroid disease, vitiligo, pernicious anaemia, adrenal insufficiency, etc. The presence of high titres of glutamate-decarboxylase (GAD) antibodies seems to indicate an auto-immune aetiology. CLINICAL CASE: We describe a 59 year old woman who complained of an illness starting seven years previously with progressive pain and contractions of the dorso-lumbar muscles, which later spread to the cervical and abdominal muscles and to the upper limbs. From the time of onset, there were exacerbations of the condition following external stimuli. Also there was generalized vitiligo and whilst this progressed, DM developed (which finally required insulin to control it). On EMG there was continuous muscular activity and absence of muscle relaxation. The presence of high titres of anti-nuclear antibodies, gastric parietal cell antibodies and anti-GAD was very marked. There was a spectacular response to treatment with diazepam, with progressive improvement although ever increasing dosage was required. CONCLUSIONS: A new case of the 'stiff-man' syndrome is presented and aspects of aetiopathology and treatment are reviewed.

[Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent]. / Diagnóstico tardío de fenilcetonuria como causa de retraso mental en un adolescente.

INTRODUCTION: The hyperphenylalaninemias (HFA) form a diverse group of recessive autosomic disorders. They are caused by defects in the hepatic system for hydroxylation of the amino acid phenylalamine to tyrosine. The estimated incidence is approximately 10 cases per 100,000 live births. Children with this metabolic disorder may present with varied neurological symptoms. Control of plasma levels, so that they are more normal as soon as possible after birth, significantly prevents mental retardation and other neuropsychological dysfunction. For this reason HFA has been included in neonatal screening. However, some patients are not detected on screening. When they are adults, these patients pose problems of diagnosis for neurologists who attend adults. CLINICAL CASE: We describe an adolescent with mental and linguistic retardation, in whom neonatal screening to rule out metabolic defects was normal. At the age of 15, the phenylalanine in blood and urine were found to be raised. On cerebral magnetic resonance changes typical of pheynylketonuria (PKU) were seen. CONCLUSIONS: The HFA should be considered as causes of cerebral dysfunction in adults, since in spite of neonatal screening, false negatives may occur. We describe a clinical case and consider different forms of hyperphenylaleninemias. Their diagnosis and treatment.