Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Background and Objectives: Hexokinase 1 (encoded by HK1) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic HK1 variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals. Methods: We investigated clinical phenotypes, brain MRIs, and the CSF of 15 previously unpublished individuals with monoallelic HK1 variants and an NDD phenotype. Results: All individuals had recurrent variants likely causing gain-of-function, representing mutational hot spots. Eight individuals (c.1370C>T) had a developmental and epileptic encephalopathy with infantile onset and virtually no development. Of the other 7 individuals (n = 6: c.1334C>T; n = 1: c.1240G>A), 3 adults showed a biphasic course of disease with a mild static encephalopathy since early childhood and an unanticipated progressive deterioration with, e.g., movement disorder, psychiatric disease, and stroke-like episodes, epilepsy, starting in adulthood. Individuals who clinically presented in the first months of life had (near)-normal initial neuroimaging and severe cerebral atrophy during follow-up. In older children and adults, we noted progressive involvement of basal ganglia including Leigh-like MRI patterns and cerebellar atrophy, with remarkable intraindividual variability. The CSF glucose and the CSF/blood glucose ratio were below the 5th percentile of normal in almost all CSF samples, while blood glucose was unremarkable. This biomarker profile resembles glucose transporter type 1 deficiency syndrome; however, in HK1-related NDD, CSF lactate was significantly increased in all patients resulting in a substantially different biomarker profile. Discussion: Genotype-phenotype correlations appear to exist for HK1 variants and can aid in counseling. A CSF biomarker profile with low glucose, low CSF/blood glucose, and high CSF lactate may point toward monoallelic HK1 variants causing an NDD. This can help in variant interpretation and may aid in understanding the pathomechanism. We hypothesize that progressive intoxication and/or ongoing energy deficiency lead to the clinical phenotypes and progressive neuroimaging findings.

Orchid seeds are not always short lived in a conventional seed bank!

BACKGROUND AND AIMS: Orchid seeds are reputed to be short lived in dry, cold storage conditions, potentially limiting the use of conventional seed banks for long-term ex situ conservation. This work explores whether Cattleya seeds are long lived or not during conventional storage (predried to ~12 % relative humidity, then stored at -18 °C). METHODS: We explored the possible interaction of factors influencing seed lifespan in eight species of the genus Cattleya using physiological (germination and vigour), biochemical (gas chromatography), biophysical (differential scanning calorimetry) and morphometric methods. Seeds were desiccated to ~3 % moisture content and stored at -18 °C for more than a decade, and seed quality was measured via three in vitro germination techniques. Tetrazolium staining was also used to monitor seed viability during storage. The morphometric and germination data were subjected to ANOVA and cluster analysis, and seed lifespan was subjected to probit analysis. KEY RESULTS: Seeds of all Cattleya species were found to be desiccation tolerant, with predicted storage lifespans (P50y) of ~30 years for six species and much longer for two species. Cluster analysis showed that the three species with the longest-lived seeds had smaller (9-11 %) airspaces around the embryo. The post-storage germination method impacted the quality assessment; seeds equilibrated at room temperature for 24 h or in 10 % sucrose solution had improved germination, particularly for the seeds with the smallest embryos. Chromatography revealed that the seeds of all eight species were rich in linoleic acid, and differential scanning calorimetry identified a peak that might be auxiliary to selecting long-lived seeds. CONCLUSIONS: These findings show that not all orchids produce seeds that are short lived, and our trait analyses might help to strengthen prediction of seed longevity in diverse orchid species.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.

Homologous chromosome associations in domains before meiosis could facilitate chromosome recognition and pairing in wheat.

The increasing human population demands an increase in crop yields that must be implemented through breeding programmes to ensure a more efficient and sustainable production of agro-food products. In the framework of breeding, genetic crosses are developed between cultivated species such as wheat and their relative species that are used as genetic donors to transfer desirable agronomic traits into the crop. Unfortunately, interspecific associations between chromosomes from the donor species and the cultivar are rare during meiosis, the process to produce gametes in organisms with sexual reproduction, hampering the transfer of genetic variability into wheat. In addition, little is known about how homologous (equivalent) chromosomes initiate interaction and recognition within the cell nucleus to enter meiosis. In this context, we aim to get insight into wheat chromatin structure, particularly the distribution of homologous chromosomes within the cell nucleus and their putative interactions in premeiotic stages to facilitate chromosome associations and recombination at the beginning of meiosis. Cytogenetics allows the study of both the structure and the behaviour of chromosomes during meiosis and is key in plant breeding. In this study we visualized an extra pair of barley homologous chromosomes in a wheat genetic background to study the spatial distribution, arrangements and interactions occurring exclusively between this pair of homologous chromosomes during premeiosis using fluorescence in situ hybridization (FISH). Our results suggest that homologous chromosomes can initiate interactions in premeiotic stages that could facilitate the processes of specific chromosome recognition and association occurring at the onset of meiosis.

Patterned Vascularization of Embryonic Mouse Forebrain, and Neuromeric Topology of Major Human Subarachnoidal Arterial Branches: A Prosomeric Mapping.

The prosomeric brain model contemplates progressive regionalization of the central nervous system (CNS) from a molecular and morphological ontogenetic perspective. It defines the forebrain axis relative to the notochord, and contemplates intersecting longitudinal (zonal, columnar) and transversal (neuromeric) patterning mechanisms. A checkboard pattern of histogenetic units of the neural wall results, where each unit is differentially fated by an unique profile of active genes. These natural neural units later expand their radial dimension during neurogenesis, histogenesis, and correlative differential morphogenesis. This fundamental topologic framework is shared by all vertebrates, as a Bauplan, each lineage varying in some subtle aspects. So far the prosomeric model has been applied only to neural structures, but we attempt here a prosomeric analysis of the hypothesis that major vessels invade the brain wall in patterns that are congruent with its intrinsic natural developmental units, as postulated in the prosomeric model. Anatomic and embryologic studies of brain blood vessels have classically recorded a conserved pattern of branches (thus the conventional terminology), and clinical experience has discovered a standard topography of many brain arterial terminal fields. Such results were described under assumptions of the columnar model of the forebrain, prevalent during the last century, but this is found insufficient in depth and explanatory power in the modern molecular scenario. We have thus explored the possibility that brain vascularization in rodents and humans may relate systematically to genoarchitectonic forebrain subdivisions contemplated in the prosomeric model. Specifically, we examined first whether early vascular invasion of some molecularly characterized prosomeric domains shows heterochrony. We indeed found a heterochronic pattern of vascular invasion that distinguishes between adjacent brain areas with differential molecular profiles. We next mapped topologically on the prosomeric model the major arterial branches serving the human brain. The results of this approach bear on the possibility of a developmentally-based modern arterial terminology.

El suicidio en Castellón entre 2009 y 2015: ¿ayudan los factores sociodemográficos y psiquiátricos a entender las diferencias entre los ámbitos urbano y rural? / Suicide in Castellon, 2009-2015: do sociodemographic and psychiatric factors help understand urban-rural differences?

Introducción. El nivel de la ruralidad ha demostrado ser un factor importante en el suicidio. Las diferencias en suicidio según ruralidad parecen explicarse por factores sociodemográficos y psiquiátricos y su importancia depende del sexo y la edad. Hasta ahora, se han explorado pocos factores sociodemográficos y psiquiátricos a la vez, siendo aún más infrecuentes los análisis separando por sexo y edad. Además, en España, las diferencias en suicidio según ruralidad han sido poco investigadas. Este trabajo explora las diferencias en suicidio entre áreas rurales y urbanas en la provincia de Castellón (España). Para ello, se evaluó un amplio conjunto de factores sociodemográficos (sexo, edad y método de suicidio) y psiquiátricos (historia de uso de servicios de salud mental, diagnóstico psiquiátrico, intentos de suicidio y hospitalización psiquiátrica). Los análisis se dividieron por sexo y edad. Material y método. La muestra incluyó todos los suicidios registrados en la provincia de Castellón entre enero de 2009 y diciembre de 2015 (n = 343). Resultados. En línea con trabajos anteriores, encontramos tasas de suicidio más altas en las zonas rurales, especialmente en hombres y personas mayores. El efecto de las variables sociodemográficas y psiquiátricas sobre las diferencias en suicidio dependieron de sexo y edad. Así, el uso de salud mental y la accesibilidad a métodos de suicidio explicarían las diferencias de ruralidad en suicidio sobre todo en hombres, mientras que la frecuencia de visitas psiquiátricas con el médico de familia haría lo mismo en personas mayores. Conclusiones. En el texto se discuten las implicaciones de estos resultados para la prevención del suicidio en España (AU)

Introduction. Studies have pointed to rurality as an important factor influencing suicide. Research so far suggests that several sociodemograpic and psychiatric factors might influence urban-rural differences in suicide. Also, their contribution appears to depend on sex and age. Unfortunately, studies including a comprehensive set of explanatory variables altogether are still scare and most studies have failed to present their analyses split by sex and age groups. Also, urban-rural differences in suicide in Spain have been rarely investigated. The present study aimed at explaining rural-urban differences in suicidality in the province of Castellon (Spain). A comprehensive set of sociodemographic and psychiatric factors was investigated and analyses were split by sex and age. Material and method. The sample comprised all suicides recorded in the province of Castellon from January 2009 to December 2015 (n=343). Sociodemographic data included sex, age, and suicide method. Psychiatric data included the history of mental health service utilization, psychiatric diagnosis, suicide attempts, and psychiatric hospitalization. Results. Consistent with past research, suicide rates were highest in rural areas, especially in men and older people. We also found that urban-rural differences in sociodemographic and psychiatric variables were sensitive to sex and age. Our results indicated that specialized mental health service use and accessibility to suicide means might help understand urban-rural differences in suicide, especially in men. When exploring urban-rural differences as a function of age, general practitioner visits for psychiatric reasons were more frequent in the older age group in rural areas. Conclusions. Study implications for suicide prevention strategies in Spain are discussed (AU)

Suicide in Castellon, 2009-2015: Do sociodemographic and psychiatric factors help understand urban-rural differences? / El suicidio en Castellón entre 2009 y 2015: ¿ayudan los factores sociodemográficos y psiquiátricos a entender las diferencias entre los ámbitos urbano y rural?

INTRODUCTION: Studies have pointed to rurality as an important factor influencing suicide. Research so far suggests that several sociodemograpic and psychiatric factors might influence urban-rural differences in suicide. Also, their contribution appears to depend on sex and age. Unfortunately, studies including a comprehensive set of explanatory variables altogether are still scare and most studies have failed to present their analyses split by sex and age groups. Also, urban-rural differences in suicide in Spain have been rarely investigated. The present study aimed at explaining rural-urban differences in suicidality in the province of Castellon (Spain). A comprehensive set of sociodemographic and psychiatric factors was investigated and analyses were split by sex and age. MATERIAL AND METHOD: The sample comprised all suicides recorded in the province of Castellon from January 2009 to December 2015 (n=343). Sociodemographic data included sex, age, and suicide method. Psychiatric data included the history of mental health service utilization, psychiatric diagnosis, suicide attempts, and psychiatric hospitalization. RESULTS: Consistent with past research, suicide rates were highest in rural areas, especially in men and older people. We also found that urban-rural differences in sociodemographic and psychiatric variables were sensitive to sex and age. Our results indicated that specialized mental health service use and accessibility to suicide means might help understand urban-rural differences in suicide, especially in men. When exploring urban-rural differences as a function of age, general practitioner visits for psychiatric reasons were more frequent in the older age group in rural areas. CONCLUSIONS: Study implications for suicide prevention strategies in Spain are discussed.

Evaluación de la precisión diagnóstica de la punción aspiración con aguja fina en pacientes con nódulo tiroideo / Evaluation of the diagnostic precision of fine needle puncture aspiration in patients with thyroid nodule

Introducción: La punción aspiración con aguja fina ha desempeñado un papel esencial en la evaluación del paciente con nódulo tiroideo, siendo un método rápido, mínimamente invasivo y de bajo costo. El objetivo de este estudio fue evaluar la precisión diagnóstica de la punción aspiración con aguja fina en lesiones tiroideas, contrastando sus resultados con los hallazgos histopatológicos obtenidos en la pieza quirúrgica. Materiales y métodos: Se realizó un análisis retrospectivo utilizando los sistemas de registro informático del Instituto Caldense de Patología en Manizales - Colombia. Se analizaron los casos estudiados por punción aspiración con aguja fina de tiroides entre enero del 2012 a febrero del 2014. El estudio incluyó 1220 casos, de los cuales a 111 se les realizó tiroidectomía, los resultados se correlacionaron y se determinó sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo y precisión diagnóstica. Resultados: De los 111 casos, 5 se excluyeron por ser muestras insatisfactorias o atipias de significado indeterminado y quedaron 106 casos adecuados para la evaluación. La correlación citológica e histopatológica mostró una sensibilidad de 86,1%, especificidad de 88,2%, valor predictivo positivo de 93,9%, valor predictivo negativo de 75% y una precisión diagnóstica de 86,7%. Discusión: La punción aspiración con aguja fina de tiroides es una prueba sensible, específica y con una buena precisión diagnóstica. Los datos obtenidos son comparables con los hallados en estudios previos similares.

Introduction: The fine needle aspiration has played an essential role evaluating the patient with a thyroid nodule, is a rapid method, minimally invasive, with high diagnostic accuracy and low cost. The objective of this study evaluated the diagnostic accuracy of fine needle aspiration in thyroid lesions contrasting their results with histopathological findings obtained in the surgical specimen. Materials and methods: Como A retrospective analysis was performed using the informatics registry of Instituto Caldense de Patología in Manizales-Colombia. Were analyzed the cases of thyroid aspiration with fine needle studied from January 2012 to February 2014. The study included 1220 cases, of which 111 had a thyroidectomy, the results were correlated and sensibility, specificity, positive predictive value, negative predictive value and diagnostic accuracy were determined. Results: Of the 111 cases, 5 were excluded because the sample was unsatisfactory or because showed atypia of undetermined meaning, remaining 106 cases were evaluated. The cytological and histopathological correlation showed a sensibility of 86.1%, specificity of 88.2%, positive predictive value of 93.9%, negative predictive value of 75%, and a diagnostic accuracy of 86.7%. Discussion: Thyroid fine needle aspiration is a sensitive, specific test with good diagnostic accuracy. Data obtained are comparable to those found in similar previous studies. When an inadequate or unsatisfactory sample is found, the biopsy must be repeated.

Crisis epilépticas y pseudocrisis: la importancia del diagnóstico diferencial / Epileptic and non-epileptic psychogenic seizures: the importance of differential diagnosis

Las crisis no epilépticas psicógenas (CNEP) son episodios paroxísticos de alteración conductual sin los cambios esperables en el electroencefalograma ni la asociación a una disfunción del sistema nervioso central. Constituyen un desafío diagnóstico para neurólogos, psiquiatras y/o psicólogos, así como también puede suponer un reto terapéutico dada la complejidad contextual de muchos de los casos. La exploración psicopatológica y clínica y el estudio con video EEG son las pruebas complementarias que aportan la información más relevante para el diagnóstico. El objetivo de presentar este Caso Clínico es plantear las dificultades que suele tener el diagnóstico diferencial entre epilepsia y CNEP, destacando la importancia del abordaje multidisciplinar y la detección precoz, para diseñar un plan de tratamiento específico que posibilite una mejoría clínica y pronóstica

Psychogenic Non-Epileptic Seizures (PNES) are paroxysmal episodes of altered behavior without the expected changes in the electroencephalogram neither the association with a dysfunction of the central nervous system. PNES constitute a diagnostic challenge for neurologists, psychiatrists and/or psychologists, as well as also therapeutic challenge can suppose given the contextual complexity of many cases. Psychopathologic and clinical examination and the study with EEG video are the complementary tests that provide the most relevant information for the diagnosis. The aim of presenting this Case Report is to highlight the difficulty of differential diagnosis between epilepsy and PNES, emphasizing the importance of the multidisciplinary approach and the early detection, to design a specific treatment that allow a clinical and prognostic improvement

Características psicológicas en el síndrome de Noonan: a propósito de un caso / Psychological characteristics of Noonan syndrome: a case report

Se presenta un caso de Síndrome de Noonan (SN). El motivo de consulta es la sospecha de Trastorno por Déficit de Atención e Hiperactividad (TDAH). En el proceso de evaluación, y ante resultados en las pruebas aplicadas que no confirman este diagnóstico, los padres informaron que la paciente padece dicho síndrome. Se discute la importancia de futuras investigaciones que puedan ayudar a identificar un posible fenotipo conductual del síndrome

A case of Noonan Syndrome (NS) is presented. Consulting reason is an Attention deficit hyperactivity disorder (ADHD) suspicion. In the evaluation process and in the face of results in the applied tests, that does not confirm this diagnosis, the parents report that the patient has this syndrome. It is discussed the importance of future research that can help to identify a possible behavioral phenotype of the syndrome

Prevalence and clinical characteristics of renal transplant patients with true resistant hypertension.

OBJECTIVE: Arterial hypertension is a prevalent complication that occurs in 75-90% of kidney-transplant recipients. Data about resistant arterial hypertension are scarce. The aim of this multicenter, cross-sectional, and observational study was to assess the prevalence and the clinical features of true resistant hypertension among renal-transplant patients. METHODS: Eligible patients included hypertensive cadaveric kidney-transplant recipients aged below 70 years, with functioning kidney for at least 1 year, and with an estimated glomerular filtration rate at least 30 ml/min per 1.73 m and serum creatinine below 2.5 mg/dl. Recorded data included demographic characteristics, office blood pressure, and ambulatory blood pressure monitoring and laboratory investigations. A total of 868 patients (mean age 53.2 ±â€Š11.6 years) were included. RESULTS: Mean systolic and diastolic office blood pressure was 140.2 ±â€Š18 and 80.4 ±â€Š10 mmHg, respectively. Mean 24-h ambulatory SBP and DBP was 131.5 ±â€Š14 and 77.4 ±â€Š8.7 mmHg and the prevalence of true resistant hypertension was 18.9%. Those with resistant hypertension were older and men, with a worse cardiovascular risk profile and history of cardiovascular disease. Apart from this, these patients had worse graft function and treatment with steroids. CONCLUSIONS: The present study provides evidence about the prevalence of true resistant hypertension in renal-transplant patients. It also shows the very high cardiovascular risk of true resistant hypertension and the elevated association of this condition with renal failure, organ damage, and history of cardiovascular events.

Spanish Society of Nephrology document on KDIGO guidelines for the assessment and treatment of chronic kidney disease.

The new Kidney Disease: Improving Global Outcomes (KDIGO) international guidelines on chronic kidney disease (CKD) and the management of blood pressure (BP) in CKD patients are an update of the corresponding 2002 and 2004 KDOQI (Kidney Disease Outcomes Quality Initiative) guidelines. The documents aim to provide updated guidelines on the assessment, management and treatment of patients with CKD. The first guidelines retain the 2002 definition of CKD but present an improved prognosis classification. Furthermore, concepts about prognosis of CKD, recommendations for management of patients, and criteria for referral to the nephrologist have been updated. The second guideline retains the <130/80 mm Hg-goal for management of BP in patients with CKD presenting increased albuminuria or proteinuria (albumin-to-creatinine ratio 30-300 mg/g, and >300 mg/g, respectively) but recommends a less-strict goal of <140/90 mm Hg in patients with normoalbuminuria. The development of the guidelines followed a predetermined process in which the evidence available was reviewed and assessed. Recommendations on management and treatment are based on the systematic review of relevant studies. The GRADE system (Grading of Recommendations Assessment, Development and Evaluation) was used to assess the quality of evidence and issue the grade of recommendation. Areas of uncertainty are also discussed for the different aspects addressed.

Detection of human impacts by an adaptive energy-based anisotropic algorithm.

Boosted by health consequences and the cost of falls in the elderly, this work develops and tests a novel algorithm and methodology to detect human impacts that will act as triggers of a two-layer fall monitor. The two main requirements demanded by socio-healthcare providers--unobtrusiveness and reliability--defined the objectives of the research. We have demonstrated that a very agile, adaptive, and energy-based anisotropic algorithm can provide 100% sensitivity and 78% specificity, in the task of detecting impacts under demanding laboratory conditions. The algorithm works together with an unsupervised real-time learning technique that addresses the adaptive capability, and this is also presented. The work demonstrates the robustness and reliability of our new algorithm, which will be the basis of a smart falling monitor. This is shown in this work to underline the relevance of the results.

A Common APOE Polymorphism Is an Independent Risk Factor for Reduced Glomerular Filtration Rate in the Spanish RENASTUR Cohort.

OBJECTIVE: APOE gene variants may contribute to the risk of chronic kidney disease. Our aim was to determine whether the common APOE-ε2/ε3/ε4 polymorphism is associated with a reduced estimated glomerular filtration rate (eGFR) in the RENASTUR population, a cohort of elderly individuals from the region Asturias (northern Spain). METHODS: A total of 743 Spanish Caucasians aged 55-85 years were genotyped for the APOE-ε2/ε3/ε4 polymorphism. Individuals with a previous diagnosis of renal disease were not eligible for the study. Participants with a documented history of type 2 diabetes mellitus (T2DM) or hypertension or who were receiving antidiabetic or antihypertensive drugs were classified as diabetics and hypertensives. The eGFR was calculated using the Modification of Diet in Renal Disease formula, and those with an eGFR <60 ml/min/1.73 m2 (n = 91) were considered as having impaired renal function. The effect of alleles and genotypes on clinical (hypertension, T2DM) and analytical findings was statistically determined. RESULTS: In addition to age and T2DM, APOE-ε2 was significantly associated with an eGFR <60 ml/min/1.73 m2 (p = 0.002; OR = 2.30). This association remained statistically significant after correction for multiple variables. Although the effect of the APOE-ε2 allele on the eGFR was observed both among diabetics and nondiabetics, the significance was stronger in the T2DM group. CONCLUSION: The APOE-ε2 allele is a genetic risk factor for impaired renal function among healthy elderly Spanish individuals.

Association between a MYH9 polymorphism (rs3752462) and renal function in the Spanish RENASTUR cohort.

The MYH9 gene encodes a protein that is expressed in the kidney glomerular podocytes. MYH9 single nucleotide polymorphisms (SNPs) have been linked to the risk for chronic kidney disease (CKD) and end stage renal disease. Our aim was to determine whether MYH9 SNPs were associated with renal disease in Spanish Caucasians. The RENASTUR cohort consisted of 592 Spanish Caucasians, aged 55-85 years. They were genotyped for SNPs rs3752462 and rs4821480, which tagged haplotype E. The main values between individuals with a glomerular filtration rate (eGFR) <60 and ≥ 60 ml/min/1.73 m(2) were statistically compared. The next variables were significantly associated with the eGFR in the univariate analysis: age, gender, type 2 diabetes, total cholesterol, total LDL-cholesterol, and the MYH9 rs3752462 (TC+TT genotypes; p=0.003). This SNP remained significantly associated with the eGFR in the multivariate analysis. In conclusion, SNP rs3752462 was an independent predictor of reduced eGFR in the Spanish RENASTUR population. The genotyping of this MYH9 SNP could help to identify individuals at risk of developing CKD.

Dificultades del diagnóstico del Trastorno Bipolar en la infancia: a propósito de un caso / The difficulties of diagnosing Bipolar Disorder in infancy: a case study

El Trastorno bipolar en la infancia es objeto de debate desde hace ya bastantes años. Su forma de presentación distinta a la forma clásica de presentación en el adulto y la ausencia de criterios diagnósticos específicos para estas edades dificulta de manera notable su diagnóstico. Presentamos el caso de un paciente de nueve años al que diagnosticamos de "Trastorno bipolar tipo I, episodio maníaco único". Presentaba una marcada irritabilidad, labilidad afectiva, euforia, clara inquietud psicomotriz, aumento de la tasa y tono de habla, disminución de las horas de sueño y aumento del apetito en el marco de una alta fluctuabilidad anímica con cambios súbitos de humor. Generalmente se acepta que la irritabilidad es el síntoma más característico del Trastorno bipolar en la infancia. Sin embargo, no resulta suficiente para su diagnóstico ya que se trata de un síntoma común en otros trastornos propios de la infancia y adolescencia

Bipolar Disorder in infancy has been the subject of debate for a considerable number of years. The fact that its presentation differs from the classic presentation in adulthood, together with the absence of specific diagnostic criteria for this age group, make its diagnosis significantly more difficult. The subject of the present study is a nine year-old patient diagnosed with "Type I bipolar disorder, single manic episode". He presented with marked irritability, labile affect, euphoria, pronounced psychomotor restlessness, rapid speech and raised tone of voice, diminished hours of sleep and an increase in appetite, within the framework of high emotional volatility characterized by sudden changes of mood. It is generally accepted that irritability is the most characteristic symptom of Bipolar Disorder in infancy. This however is not sufficient for its diagnosis because the same symptom frequently occurs in other disorders observed in infancy and adolescence

Valor predictivo del índice de riesgo multivariable en la predicción clínica de intubación orotraqueal difícil. Hospital Nacional Arzobispo Loayza / Predictive value of the index of multivariate risk in the clinical prediction of difficult orotracheal intubation. National Hospital Arzobispo Loayza

Objetivos: Determinar el valor predictivo del índice de Riesgo Multivariable para Intubación Orotraqueal Difícil en pacientes adultos sometidos a anestesia general intubada en el Hospital Nacional Arzobispo Loayza en el periodo Julio a Agosto del 2012. Material y métodos: Se realizó un estudio observacional, descriptivo, retrospectivo y transversal. Se revisaron 460 historias clínicas de pacientes que programados para anestesia general intubada balanceada en el periodo que corresponde al estudio. Resultados: los pacientes del sexo masculino tuvieron una media de 39.6+/-12.5 años y los pacientes del sexo femenino tuvieron una media de 44+/-14.7 años, siendo la mínima edad de 19 años y la máxima de 78 años. El 60.7 por ciento tuvo apertura oral > de 4 cm. EI 63.3 por ciento tuvo una distancia tiromentoniana >6 cm. EI 78 por ciento tuvo Mallampati clase mayor II. El 53.5 por ciento de los pacientes tuvieron flexo extensión del cuello >90.0. El 53.3 por ciento de los pacientes hubo capacidad de llevar los incisivos inferiores por delante de los superiores. El 91.7 por ciento de los pacientes tuvieron IMC<=35. EI 46.1 por ciento de los pacientes tuvieron al antecedente de intubación difícil. Conclusiones: Los indicadores del índice de Riesgo Multivariable para Intubación Orotraqueal Difícil con mayor valor predictivo positivo fueron: la distancia tiromentoniana menor de 6 cm (68 por ciento), flexo extensión del cuello mayor menor o igual de 90 (98 por ciento), incapacidad para subluxar la mandíbula (98 por ciento), e IMC mayor de 35 (100 por ciento).

Pseudocrisis en niños y adolescentes: una revisión / Pseudozeisures in children and adolescents: a reviews

Las pseudocrisis epilépticas (fenómenos convulsivos de origen psicógeno y no epiléptico) son un motivo relativamente frecuente de interconsulta en psiquiatría. Cuando están ausentes los indicios que pudieran orientar a una etiología psicógena (desencadenantes vitales, personalidad de base, teatralidad de la presentación clínica…), suponen con frecuencia un autentico reto diagnóstico. El diagnóstico debe basarse no sólo en la ausencia de hallazgos en las diferentes exploraciones físicas efectuadas, sino también en la presencia de alteraciones psicopatológicas que confirmen el diagnóstico psiquiátrico. El abordaje inicial y la relación que se establezca con el niño y su familia son de extraordinaria importancia en la evolución posterior

Pseudoseizures (psychogenic nonepileptic convulsive phenomena) are a relatively common cause in psychiatry consultation. Diagnosis often involves a real challenge when there is no evidence that could guide a psychogenic etiology (life-event triggers, basis personality, theatrically clinical presentation, etc) and should be based not only on the absence of clinical findings in physical examination but also on the presence of psychiatric disorders that confirm the diagnosis. The initial approach and the relationship established with the child and his family is extremely important in further evolution

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy.

An intronic single nucleotide polymorphism (SNP) in the CYP3A5 gene (CYP3A5*3; SNP rs776746) affects RNA splicing and enzymatic activity. The CYP3A5*3 frequency increased with distance from the equator and natural selection has been proposed to explain the worldwide distribution of this allele. CYP3A activity has been related with the risk for hypertension in pregnancy, a major cause of morbidity and mortality among women, and CYP3A5*3 could reduce the risk for this disease in populations from regions with high sodium and water availability. The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the risk for hypertension in pregnancy has not been evaluated.We compared the allele and genotype frequencies of three functional SNPs in the CYP3A5 (rs776746), CYP3A4 (rs2740574), and CYP21A2 (rs6471) genes between pregnant women who developed hypertension (n = 250) or who remained normotensive (control group, n = 250). In addition, we sequenced the full CYP3A5 coding sequence in 40 women from the two groups to determine whether some gene variants could explain the risk for hypertensive pregnancies in our population.Allele and genotype frequencies did not differ between hypertensive and normotensive women for the three CYP variants. We did not find CYP3A5 nucleotide changes that could explain a higher risk for hypertension in pregnancy. Our data suggests that the variation in CYP3A5, CYP3A4, and CYP21A2 did not contribute to the risk for hypertension in pregnancy in our population.

Un test no-verbal de atribución social para niños y adolescentes con trastornos del espectro autista / A non-verbal test of social attribution for children and adolescents with Autism Spectrum Disorders

Aunque es un hecho ampliamente aceptado que las personas con un trastorno del espectro autista (TEA) exhiben un déficit generalizado en sus capacidades mentalistas, algunos individuos con autismo e inteligencia al menos promedio pasan con éxito los tests de la teoría de la mente (TM). Se cree que estas personas utilizan sus avanzadas habilidades cognitivas de razonamiento verbal para compensar por su capacidad disminuida de mentalizar y así aportar las respuestas correctas a las pruebas de la teoría de la mente en el laboratorio. Este estudio presenta un procedimiento para evaluar la capacidad de mentalización de niños y adolescentes con trastornos del espectro autista e inteligencia promedio a través de un test no-verbal de Atribución Social: el video de figuras geométricas animadas. En el estudio participaron 80 sujetos: 20 individuos varones con autismo y puntuaciones de CI y lenguaje al menos dentro de la banda promedio, 20 niños varones con un desarrollo normal con edades comprendidas entre los 8-9 años, 20 niños varones con desarrollo normal y edades entre 12- 13 años, y 20 adultos varones con ausencia de trastornos psiquiátricos y con una historia de desarrollo normal. Los resultados de la prueba indican una actuación significativamente inferior en el grupo clínico de sujetos con autismo y una correlación significativa entre su actuación en el test y el tiempo invertido en atribuir un significado a los movimientos de las figuras geométricas animadas. En los grupos de niños con un desarrollo normal, se observó una trayectoria de evolución en los resultados del test con una mejoría a partir del periodo de la infancia tardía, siguiendo la adolescencia y por último la etapa adulta. Este trabajo aporta datos que apoyan la existencia de un déficit en la capacidad de mentalización y aporta una base para futuras investigaciones de la naturaleza entre la relación entre la percepción del movimiento y las habilidades sociales

Although it is well established that people with Autism Spectrum Disorders experience a generalized difficulty in mentalising, some very able individuals do pass high level theory of mind (TOM) tasks. It is believed that the use of their well developed cognitive-verbal reasoning skills compensates for the lack of mentalising and facilitates the success on TOM tasks. This paper presents a procedure to test mentalising ability through a totally non-verbal Test of Social Attribution. Eighty subjects with high-functioning autism or Asperger Syndrome (ASD) (N=20) and with age appropriate IQ and language scores, normally developing children aged 8-9 (N=20) and 12-13 (N=20) and adults (N=20) participated in this study. The results indicate significantly lower performance in the clinical group and a significant correlation between their performance and the time invested in attributing meaning to the animations. In the normally developing groups, there was evidence of a developmental trend with performance improving from late childhood into adolescence and then adulthood. This study provides support for a deficit in mentalising, and provides a basis for further investigation of the nature of the relationship between movement perception and social abilities