Adecuación de la prescripción de vitamina D en Atención Primaria / Adequacy of the prescription of vitamin D in Primary Care

Objetivos: Evaluar la adecuación del tratamiento con vitamina D, basada en la evidencia clínica, en un centro de Atención Primaria, así como analizar diversas características de las prescripciones realizadas. Materiales y métodos: Estudio descriptivo transversal. Atención Primaria. Pacientes mayores de 14 años con prescripción de vitamina D. Variable principal fue la adecuación terapéutica con compuestos de vitamina D (se consideró adecuación cuando había indicación clínica de tratamiento y niveles séricos de vitamina D<20 ng/ml). Se recogieron otras variables clínicas. Para el análisis estadístico se utilizaron medidas de frecuencia y asociación. Se consideró un nivel de significación<0,05. Resultados: Cuatrocientos treinta pacientes, 346 mujeres (80,5%, IC-95%=77-84). Registro de valores de vitamina D en 216 (50,2%, IC-95%=45-55). Indicaciones para realizar cribado/tratamiento en 219 pacientes (50,9%, IC-95%=46-56), de los que en 150 (68,5%, IC-95%=62-75) constaban valores de vitamina D, media (±DE) de 21,22±12 ng/ml, criterios de deficiencia en 86 (57,3%, IC-95%=51-64), insuficiencia en 37 (24,7%, IC- 95%=19-30) y suficiencia en 27 (18%, IC-95%=13-23). En 86 pacientes (20%, IC-95%=16-24) había adecuación de tratamiento (indicación de tratamiento sumado a un déficit de vitamina D), sin diferencias entre sexos. Conclusiones: Solo el 20% de los pacientes tratados con vitamina D tenían una buena adecuación terapéutica (indicación para tratamiento junto con un déficit de vitamina D). Había más mujeres con tratamiento. Poco más de la mitad presentaron indicación para cribado analítico de valores serológicos de vitamina D y/o para iniciar tratamiento con fármacos con compuestos de vitamina D. La mitad de los pacientes tenían registro de vitamina D (AU)

Objectives: To evaluate the adequacy of vitamin D treatment based on clinic evidence in a Primary Care Center as well as to analyze some characteristics of the prescriptions made. Materials and methods: Descriptive cross-sectional study. Primary Care. Patients above 14 years old with vitamin D prescription. Main variable was the therapeutic adequacy with vitamin D compounds (adequacy was considered when there was a clinical indication for treatment and blood vitamin D levels below 20ng/ml). Other clinical variables were collected. Frequency and association measures were used for statistical analysis. Level of statistical significance was considered <0.05. Results: 430 patients, 346 women (80.5%, 95% CI=77–84). Record of vitamin D values in 216 (50.2%, 95% CI=45–55). Screening/treatment indications in 219 patients (50.9%, 95% CI=46–56), of those in 150 patients vitamin D values were recorded (68.5%, 95% CI=62–75), average (±SD) was 21.22±12ng/ml, deficiency criteria in 86 (57.3%, 95% CI=51–64), insufficiency in 37 (24.7%, 95% CI=19–30) and sufficiency in 27 (18%, 95% CI=13–23). 86 patients (20%, 95% CI=16–24) had treatment indications plus vitamin D deficiency with no differences between genders. Conclusions: Only 20% of the patients had treatment indications plus vitamin D deficiency. Female predominance. Just over half had indications for screening of serological vitamin D values and/or indications for treatment with vitamin D compounds (AU)

[Adequacy of the prescription of vitamin D in Primary Care]. / Adecuación de la prescripción de vitamina D en Atención Primaria.

OBJECTIVES: To evaluate the adequacy of vitamin D treatment based on clinic evidence in a Primary Care Center as well as to analyze some characteristics of the prescriptions made. MATERIALS AND METHODS: Descriptive cross-sectional study. Primary Care. Patients above 14 years old with vitamin D prescription. Main variable was the therapeutic adequacy with vitamin D compounds (adequacy was considered when there was a clinical indication for treatment and blood vitamin D levels below 20ng/ml). Other clinical variables were collected. Frequency and association measures were used for statistical analysis. Level of statistical significance was considered <0.05. RESULTS: 430 patients, 346 women (80.5%, 95% CI=77-84). Record of vitamin D values in 216 (50.2%, 95% CI=45-55). Screening/treatment indications in 219 patients (50.9%, 95% CI=46-56), of those in 150 patients vitamin D values were recorded (68.5%, 95% CI=62-75), average (±SD) was 21.22±12ng/ml, deficiency criteria in 86 (57.3%, 95% CI=51-64), insufficiency in 37 (24.7%, 95% CI=19-30) and sufficiency in 27 (18%, 95% CI=13-23). 86 patients (20%, 95% CI=16-24) had treatment indications plus vitamin D deficiency with no differences between genders. CONCLUSIONS: Only 20% of the patients had treatment indications plus vitamin D deficiency. Female predominance. Just over half had indications for screening of serological vitamin D values and/or indications for treatment with vitamin D compounds.

cAMP-PKA signal transduction specificity in Saccharomyces cerevisiae.

Living cells have developed a set of complex signaling responses, which allow them to withstand different environmental challenges. Signaling pathways enable the cell to monitor external and internal states and to articulate the appropriate physiological responses. Cellular signal transmission requires the dynamic formation of spatiotemporal controlled molecular interactions. One of the most important signaling circuits in Saccharomyces cerevisiae is the one controlled by cAMP-Protein Kinase A (PKA). In budding yeast, extracellular glucose and a plethora of signals related with growth and stress conditions regulate the intracellular cAMP levels that modulate PKA activity which in turn regulates a broad range of cellular processes. The cAMP-PKA signaling output requires a controlled specificity of the PKA responses. In this review we discuss the molecular mechanisms that are involved in the establishment of the specificity in the cAMP-PKA signaling pathway in S.cerevisiae.

Last Interglacial Iberian Neandertals as fisher-hunter-gatherers.

Marine food-reliant subsistence systems such as those in the African Middle Stone Age (MSA) were not thought to exist in Europe until the much later Mesolithic. Whether this apparent lag reflects taphonomic biases or behavioral distinctions between archaic and modern humans remains much debated. Figueira Brava cave, in the Arrábida range (Portugal), provides an exceptionally well preserved record of Neandertal coastal resource exploitation on a comparable scale to the MSA and dated to ~86 to 106 thousand years ago. The breadth of the subsistence base-pine nuts, marine invertebrates, fish, marine birds and mammals, tortoises, waterfowl, and hoofed game-exceeds that of regional early Holocene sites. Fisher-hunter-gatherer economies are not the preserve of anatomically modern people; by the Last Interglacial, they were in place across the Old World in the appropriate settings.

Enfermedad cerebrovascular de pequeño vaso / Small vessel cerebrovascular disease

La enfermedad vascular de pequeño vaso representa un espectro de diferentes entidades que incluyen el infarto lacunar, la alteración de sustancia blanca y los microsangrados. La hipertensión es el principal factor de riesgo asociado, aunque la lesión aterotrombótica puede estar presente sobre todo en los infartos lacunares de gran tamaño y con otros factores de riesgo vascular. Los hallazgos en RM son característicos y las lesiones auténticos biomarcadores que permiten diferenciar el valor de los factores de riesgo y definir su valor pronóstico

Small vessel vascular disease is a spectrum of different conditions that includes lacunar infarction, alteration of deep white matter, or microbleeds. Hypertension is the main risk factor, although the atherothrombotic lesion may be present, particularly in large-sized lacunar infarctions along with other vascular risk factors. MRI findings are characteristic and the lesions authentic biomarkers that allow differentiating the value of risk factors and defining their prognostic value

[Small vessel cerebrovascular disease]. / Enfermedad cerebrovascular de pequeño vaso.

Small vessel vascular disease is a spectrum of different conditions that includes lacunar infarction, alteration of deep white matter, or microbleeds. Hypertension is the main risk factor, although the atherothrombotic lesion may be present, particularly in large-sized lacunar infarctions along with other vascular risk factors. MRI findings are characteristic and the lesions authentic biomarkers that allow differentiating the value of risk factors and defining their prognostic value.

Frequency and outcome of total anterior circulation strokes without intracranial large-vessel occlusion.

BACKGROUND AND PURPOSE: The percentage of patients with clinical total anterior circulation infarct (TACI) syndrome treated with reperfusion therapies in the absence of intracranial large-vessel occlusion (ILVO) was determined and their characteristics and outcome are described. METHODS: Data from a population-based, prospective, externally audited registry of all stroke patients treated with intravenous thrombolysis (IVT) and endovascular therapies in Catalonia from January 2011 to December 2013 were used. Patients with a baseline TACI and initial stroke severity measured by the National Institute of Health Stroke Scale (NIHSS) ≥ 8, evaluated less than 4.5 h post-onset, for whom a vascular study prior to treatment was available (n = 1070) were selected. Clinical characteristics, outcome and radiological data for patients treated with IVT alone (n = 605) were compared between those with detected ILVO (n = 474) and non-ILVO patients (n = 131). RESULTS: A total of 1070 patients met study criteria; non-ILVO was found in 131 (12.2%). Analysing the 605 patients treated only with IVT, no significant differences were found between non-ILVO and ILVO patients in age, sex, risk factors, time-to-treatment and type of radiological studies performed. Although non-ILVO patients had lower initial stroke severity (P < 0.001) and a better prognosis (P = 0.001), 51.3% had a poor outcome and 16% were deceased at 90 days. In 66.4% of patients without ILVO, a recent anterior territorial infarct was detected. CONCLUSIONS: Intracranial artery patency was observed in 12.2% of TACI patients evaluated within 4.5 h. Although absence of ILVO was associated with slightly better prognosis, more than half had a poor outcome at 3 months.

DEFB1 gene 5' untranslated region (UTR) polymorphisms are marginally involved in inflammatory bowel disease in south Brazilians.

The possible association of three DEFB1 gene polymorphisms with susceptibility to develop ulcerative colitis (UC) and Crohn's disease (CD) was investigated in Brazilian patients and controls. Although a clear and strong association between functional 5'-UTR DEFB1 SNPs and susceptibility/protection to IBDs cannot be drawn, our results suggest a possible involvement of DEFB1 gene in inflammatory bowel diseases, especially with the colonic localization of Crohn's disease.

Analysis of KIR gene frequencies and HLA class I genotypes in prostate cancer and control group.

Prostate cancer is the second most common cancer in men, with a significant increase in incidence and mortality in men over 50 years of age. Natural killer cells (NK) are part of the innate immune system recognizing class I HLA molecules on target cells through their membrane receptors, called killer cell immunoglobulin-like receptors (KIR). The aim of our study is to evaluate the association between the KIR genes and HLA alleles in patients with prostate cancer and healthy controls. Two hundred patients with prostate cancer and 185 healthy controls were typed for HLA class I and KIR genes by PCR-SSP. When both groups were compared, no significant differences were found for HLA-C group 1 and group 2, HLA-Bw4, HLA-A3 and A11. No difference was seen either in KIR frequency between patients with prostate cancer and controls. In conclusion, our data suggest no potential role for the KIR gene system in prostate cancer.

Killer cell immunoglobulin-like receptor gene diversity in a Caucasian population of southern Brazil.

Killer immunoglobulin-like receptors (KIR) regulate the activity of natural killer and T cells through an interaction with specific human leucocyte antigen (HLA) class I molecules on target cells. Diversity in KIR gene content, KIR allelic and haplotype polymorphism has been observed between different ethnic groups. However, most population studies on KIR variability have focused on Europe and Asia, while Americas, Oceania and Africa remain poorly studied. The aim of this study was to analyse the variability of KIR genes in 200 healthy nonrelated individuals from the Southern Brazilian population. KIR genes and HLA-A, -B and -Cw were genotyped using polymerase chain reaction-sequence-specific primers. Southern Brazilian population demonstrated several similarities to states that are closer geographically and distinct differences with Northern Brazil in the frequency of genes KIR2DS1, 2DS2, 2DS3, 2DS5, 3DL1, 3DS1, 2DL1 and 2DL2. The activating gene KIR2DS5 was the least frequent locus found in our group. Interaction of KIR/HLA was more common in the 2DS1-/2DL1+/C2+ association. This study demonstrated the diversity of KIR genes and of KIR/HLA association in a Caucasian group of Southern Brazil, establishing differences and similarities to other different populations.

Differential localization to cytoplasm, nucleus or P-bodies of yeast PKA subunits under different growth conditions.

Our aim in this work was to further characterize the complexity and specificity of the three different isoforms (Tpk1, Tpk2 and Tpk3) of the catalytic and regulatory (Bcy1) subunits of PKA in Saccharomyces cerevisiae. We thus analyzed the subcellular localization of the PKA subunits in living cells by using strains carrying GFP (green fluorescent protein) fused to each PKA subunit. During exponential growth on glucose, both Bcy1 and Tpk2 localized in the nucleus, whereas Tpk1 and Tpk3 showed a mixed pattern of nucleo-cytoplasmic localization. During exponential growth on glycerol and during stationary phase, the PKA subunits showed mostly cytoplasmic localization, with the peculiarity that Tpk2 and Tpk3 but not Bcy1, were found associated to P-bodies and EGP bodies. Tpk3 was accumulated into P-bodies during glucose deprivation and hyper osmotic stress. Deletion of Tpk3 altered the kinetics of P-body formation. Analysis of protein expression showed that the relative expression pattern of each Tpk changes from low levels under fermentative metabolism to higher levels during stationary phase. The increase in Tpk levels produced an imbalance with Bcy1 levels. Our data suggest that the signaling specificity through PKA in yeast could be mediated by a particular subcellular localization of each isoform of Tpk.

Recomendaciones del Doppler transcraneal en el diagnóstico de la muerte encefálica / No disponible

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Seno prepúbico congénito. A propósito de un caso / Congenital prepubic sinus: case report

El seno prepúbico congénito es un tipo de duplicación uretral poco frecuente, de etiología desconocida. Se han propuesto distintas teorías embriológicas, como así también diversas clasificaciones. La mayoría de los casos se diagnostican en la infancia, la cistouretrografía retrógrada y miccional es el estudio fundamental, tanto para confirmar el diagnóstico como para establecer el tipo de anomalía y la mejor opción terapéutica. Presentamos un caso de seno prepúbico congénito en un varón de 39 años de edad, diagnosticado por secreción purulenta a nivel de un meato accesorio en base del pene (AU)

The prepubic congenital sinus is a rare type of urethral duplication of unknown origin. Different embryological theories and classifications has been proposed. Most cases are diagnosed during childhood. The Retrograde Urethrocystography is very important as it determines the diagnosis and helps choosing the best treatment option. We present a case of a prepubic congenital sinus in a 39 years old male who presented with purulent discharge from an accessory meatus in the base of the penis (AU)

Heterogeneidad topográfica del síndrome de Foix-Chavany-Marie / Heterogeneous topography of Foix-Chavany-Marie syndrome

Introducción. El síndrome de Foix-Chavany-Marie (FCM) fue descrito como una diplejía labio-facio-faringo-laringogloso- masticatoria con disociación automático-voluntaria del movimiento. Se correlaciona habitualmente con lesiones corticales bilaterales con afectación de ambos opérculos (síndrome biopercular). Describimos tres pacientes con síndrome de FCM asociado a lesiones isquémicas en dos topografías atípicas: a) subcortical bilateral, y b) opercular unilateral. Casos clínicos. Paciente 1: varón de 66 años que consultó por paresia facial, lingual y faríngea bilaterales junto con anartria de inicio ictal. En la exploración destacaba la presencia de disociación automático-voluntaria de la motilidad facial. La resonancia magnética (RM) craneal mostró un infarto reciente subcortical izquierdo, así como múltiples lesiones isquémicas antiguas subcorticales contralaterales. Paciente 2: varón de 61 años, diabético, que consultó también por anartria y parálisis facial y lingual bilaterales con disociación automático-voluntaria junto con alteración de la deglución de inicio brusco. La RM craneal mostró la presencia de una única lesión isquémica opercular izquierda. Paciente 3: varón de 36 años que consultó por aparición brusca de disartria grave, disfagia, diplejía facial con disociación automático-voluntaria y pérdida de fuerza de la extremidad superior izquierda. La RM craneal mostró un infarto opercular derecho sin lesiones contralaterales. Conclusiones. El síndrome de FCM no se asocia únicamente a lesiones operculares bilaterales, sino que además puede deberse a lesiones subcorticales bilaterales e incluso a lesiones corticales unilaterales

Introduction. Bilateral facio-pharyngo-laryngo-glosso- masticatory palsy with automatic-voluntary dissociation is known as Foix-Chavany-Marie (FCM) syndrome. It is usually due to bilateral cortical lesions involving both anterior opercula (biopercular syndrome). We describe three patients with FCM syndrome associated with ischemic lesions in two atypical localizations: a) bilateral subcortical infarcts, and b) unilateral opercular infarct. Cases report. Patient 1, a 66 year old male, was admitted for a sudden onset of anarthria and facial, lingual and masticatory paralysis. Neurological examination revealed automatic-voluntary dissociation of facial motility. MRI showed an acute left subcortical infarct and multiple bilateral subcortical ischemic lesions. Patient 2, a 61 year old male, also suffered a sudden onset of anarthria, with bilateral facial and lingual paralysis and automatic-voluntary dissociation together with sudden onset swallowing alteration. MRI showed a single ischemic lesion involving the left operculum. Patient 3, a 36 year old male, presented sudden onset of dysarthria, dysphagia and bilateral facial palsy with automatic-voluntary dissociation and loss of force in left upper limb. MRI showed an acute right opercular infarct and no contralateral lesions. Conclusions. FCM syndrome is not only due to bilateral opercular lesions but can also be seen in bilateral subcortical and even unilateral opercular lesions

[Heterogeneous topography of Foix-Chavany-Marie syndrome]. / Heterogeneidad topográfica del síndrome de Foix-Chavany-Marie.

INTRODUCTION: Bilateral facio-pharyngo-laryngo-glosso-masticatory palsy with automatic-voluntary dissociation is known as Foix-Chavany-Marie (FCM) syndrome. It is usually due to bilateral cortical lesions involving both anterior opercula (biopercular syndrome). We describe three patients with FCM syndrome associated with ischemic lesions in two atypical localizations: a) bilateral subcortical infarcts, and b) unilateral opercular infarct. CASES REPORT: Patient 1, a 66 year old male, was admitted for a sudden onset of anarthria and facial, lingual and masticatory paralysis. Neurological examination revealed automatic-voluntary dissociation of facial motility. MRI showed an acute left subcortical infarct and multiple bilateral subcortical ischemic lesions. Patient 2, a 61 year old male, also suffered a sudden onset of anarthria, with bilateral facial and lingual paralysis and automatic-voluntary dissociation together with sudden onset swallowing alteration. MRI showed a single ischemic lesion involving the left operculum. Patient 3, a 36 year old male, presented sudden onset of dysarthria, dysphagia and bilateral facial palsy with automatic-voluntary dissociation and loss of force in left upper limb. MRI showed an acute right opercular infarct and no contralateral lesions. CONCLUSIONS: FCM syndrome is not only due to bilateral opercular lesions but can also be seen in bilateral subcortical and even unilateral opercular lesions.

[Wallenberg's syndrome as the presenting symptom of a cavernous angioma]. / Síndrome de Wallenberg como forma de presentación de un angioma cavernoso.

INTRODUCTION: Cavernous angiomas account for 5-13% of all vascular malformations. In 75% of cases they are situated in the posterior fossa and up to 30% are associated with abnormal venous drainage. The main complication is haemorrhage; the presence of a neurological focus without radiological evidence of bleeding is very rare. CASE REPORT: We report the case of a 54-year-old male with cardiovascular risk factors who presented symptoms that progressively deteriorated over a 72-hour period involving the left lower cranial nerves, sensory impairment and coordination disorder, compatible with Wallenberg's syndrome. Two computerised axial tomography scans of the brain were normal and so a tentative diagnosis of ischemic stroke in progression was proposed. Five days later, magnetic resonance imaging (MR) revealed the presence of a venous angioma and associated abnormal venous drainage. CONCLUSIONS: Cavernous angiomas present a dynamic balance between intracavernous bleeding and thrombosis, with very slow venous blood flow. Upsetting this balance leads to an increase in the intracavernous pressure and involvement of the surrounding tissue, with no radiological expression of bleeding. In these cases MR scanning helps to distinguish between a vascular malformation with reduced blood flow and a clinical picture of ischemic stroke of an arterial origin.

Síndrome de Wallenberg como forma de presentación de un angioma cavernoso / Wallenberg's syndrome as the presenting symptom of a cavernous angioma

Introducción. Los angiomas cavernosos representan el 5-13 por ciento del total de malformaciones vasculares. En el 75 por ciento de los casos se encuentran en la fosa posterior, y hasta en el 30 por ciento, asociado a un drenaje venoso anómalo. La principal complicación son las hemorragias; es excepcional la presencia de focalidad neurológica sin evidencia radiológica de sangrado. Caso clínico. Presentamos un caso de un varón de 54 años con factores de riesgo cardiovascular, que muestra un cuadro progresivo en 72 horas de duración de afectación de los pares craneales bajos izquierdos, déficit sensitivo y alteración de la coordinación compatible con un síndrome de Wallenberg. Con la tomografía axial computarizada craneal en dos ocasiones normal, se realizó la orientación diagnóstica de ictus vertebrobasilar en progresión. Cinco días después, la resonancia magnética (RM) demostró la presencia de un angioma venoso y un drenaje venoso anómalo asociado. Conclusión. Los angiomas cavernosos presentan un equilibrio dinámico de sangrado y trombosis de intracavernoma, con un flujo venoso muy lento. Una rotura en este equilibrio supone un aumento de la presión de intracavernoma y la afectación del tejido circundante, sin expresión radiológica de sangrado. La RM ayuda en estos casos a diferenciar una malformación vascular de flujo lento de un cuadro ictal isquémico de origen arterial (AU)

Introduction. Cavernous angiomas account for 5-13% of all vascular malformations. In 75% of cases they are situated in the posterior fossa and up to 30% are associated with abnormal venous drainage. The main complication is haemorrhage; the presence of a neurological focus without radiological evidence of bleeding is very rare. Case report. We report the case of a 54-year-old male with cardiovascular risk factors who presented symptoms that progressively deteriorated over a 72-hour period involving the left lower cranial nerves, sensory impairment and coordination disorder, compatible with Wallenberg’s syndrome. Two computerised axial tomography scans of the brain were normal and so a tentative diagnosis of ischemic stroke in progression was proposed. Five days later, magnetic resonance imaging (MR) revealed the presence of a venous angioma and associated abnormal venous drainage. Conclusions. Cavernous angiomas present a dynamic balance between intracavernous bleeding and thrombosis, with very slow venous blood flow. Upsetting this balance leads to an increase in the intracavernous pressure and involvement of the surrounding tissue, with no radiological expression of bleeding. In these cases MR scanning helps to distinguish between a vascular malformation with reduced blood flow and a clinical picture of ischemic stroke of an arterial origin (AU)