Evidence that Xylella fastidiosa is the Causal Agent of Almond Leaf Scorch Disease in Alicante, Mainland Spain (Iberian Peninsula).

In 2017, Xylella fastidiosa, a quarantine plant-pathogenic bacterium in Europe, was detected in almond trees associated with leaf scorch symptoms in Alicante, a Mediterranean area in southeastern mainland Spain. The bacterium was detected by serological and molecular techniques, isolated in axenic culture from diseased almond trees, and identified as X. fastidiosa subsp. multiplex sequence type (ST) 6. Inoculation experiments on almond plants in greenhouse trials with a characterized strain of X. fastidiosa subsp. multiplex ST6 isolated in the outbreak area have proved that it was able to multiply and systemically colonize inoculated plants. Disease symptoms characteristic of leaf scorch like those observed in the field were observed in the inoculated almond trees after 1 year. Furthermore, the pathogen was reisolated and identified by molecular tests. With the fulfillment of Koch's postulates, we have demonstrated that X. fastidiosa is the causal agent of the almond leaf scorch disease in the Alicante outbreak.

Morphological characterization of ckd in cats: Insights of fibrogenesis to be recognized.

Renal fibrosis is characterized by glomerulosclerosis and tubulointerstitial fibrosis and its pathogenesis is associated with the activity of mesenchymal cells (fibroblasts), being essentially characterized by a process of excessive accumulation resulting from the deposition of extracellular matrix components. The aim of this study was to characterize the morphological presentation of chronic and fibrotic lesions in the glomerular, tubular, interstitial, and vascular compartments in feline CKD, as well as the possible participation of myofibroblasts in renal fibrotic processes in this species. Cat kidneys were collected and processed according to the conventional techniques for light microscopy, circular polarization, immunohistochemistry, and electron microscopy. Fibrotic alterations were present in all compartments analyzed. The main findings in the glomerular compartment were different degrees of glomerular sclerosis, synechia formation, Bowman's capsule calcification, in addition to glomerular basement membrane thickening and pericapsular fibrosis. The tubulointerstitial compartment had intense tubular degeneration and the immunostaining in tubular cells for mesenchymal cell markers demonstrated the possibility of mesenchymal epithelial transition and consequent involvement of myofibroblasts in the development of interstitial tubule damage. Infiltration of inflammatory cells, added to vessel thickening and fibrosis, demonstrated the severity and role of inflammation in the development and perpetuation of damage. Thus, we may conclude that fibrotic lesions play a relevant role in feline CKD and the mechanism of perpetuation of these lesions need further elucidation regarding the origin and participation of myofibroblasts and consequent mesenchymal epithelial transition in this species.

Activation by ACA induces pluripotency in human blood progenitor cells.

Reprogramming of human somatic cells by transcription factors to pluripotent state holds great promise for regenerative medicine. However, low efficiencies of current reprogramming methods, immunogenicity and lack of understanding regarding the molecular mechanisms responsible for their generation, limits their utilization and raises questions regarding safety for therapeutic application. Here we report that ACA signaling via PI3K/Akt/mTor induces sustained de-differentiation of human blood progenitor cells leading to generation of ACA pluripotent stem cells. Blood-derived pluripotent stem cells differentiate in vitro into cell types of all three germ layers, exhibiting neuronal, liver, or endothelial characteristics. Our results reveal insight into the molecular events regulating cellular reprogramming and also indicate that pluripotency might be controlled in vivo through binding of a natural ligand(s) to ACA receptor enabling reprogramming through defined pathway(s) and providing a safe and efficient method for generation of pluripotent stem cells which could be a breakthrough in human therapeutics.

A five-day progesterone plus eCG-based fixed-time AI protocol improves fertility over spontaneous estrus in high-producing dairy cows under heat stress.

This study compared the efficiency of a five-day or standard (nine-day) progesterone-based regimen combined with equine chorionic gonadotrophin (eCG) in a fixed-time AI (FTAI) protocol for dairy cows. The data examined were derived from 3577 inseminations conducted in three dairy herds. Animals with no estrus signs detected over 21 days were randomly assigned to a PRID-9 or PRID-5 group. Cows in each group received a progesterone intravaginal device (PRID) for 9 or 5 days, respectively, PGF(2α) and eCG on PRID removal, and GnRH 48 h later. Fixed-time AI was performed 12 h after the GnRH dose. Cows artificially inseminated following spontaneous estrus during the study period were considered as controls. Based on the odds ratio, the likelihoods of animals in PRID-9 in the warm (conception rate [CR] of 22.3%) and cool (32% CR) periods, and control animals in the warm period (26.6% CR) becoming pregnant were reduced (by factors of 0.6, 0.3 and 0.4, respectively) compared with the control animals in the cool period (CR of 43.7%). The risk of a twin pregnancy was higher (51.4%) for cystic PRID-9 cows (by a factor of 3.6) and lower (9.9%) for cyclic PRID-5 animals (by a factor of 0.4) compared with the PRID-9 cyclic cows. These findings indicate that the proposed protocol achieves similar results during the cool or warm season to those obtained when AI is conducted at spontaneous estrus during the cool season. In addition, PRID-5 reduced twin pregnancy compared with PRID-9.

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

Mutations in the spindle checkpoint genes can cause improper chromosome segregations and aneuploidies, which in turn may lead to reproductive problems. Two of the proteins involved in this checkpoint are Aurora kinase B (AURKB), preventing the anaphase whenever microtubule-kinetochore attachments are not the proper ones during metaphase; and synaptonemal complex protein 3 (SYCP3), which is essential for the formation of the complex and for the recombination of the homologous chromosomes. This study has attempted to clarify the possible involvement of both proteins in the reproductive problems of patients with chromosomal instability. In order to do this, we have performed a screening for genetic variants in AURKB and SYCP3 among these patients using Sanger sequencing. Only one apparently non-pathogenic deletion was found in SYCP3. On the other hand, we found six sequence variations in AURKB. The consequences of these changes on the protein were studied in silico using different bioinformatic tools. In addition, the frequency of three of the variations was studied using a high-resolution melting approach. The absence of these three variants in control samples and their position in the AURKB gene suggests their possible involvement in the patients' chromosomal instability. Interestingly, two of the identified changes in AURKB were found in each member of a couple with antecedents of spontaneous pregnancy loss, a fetal anencephaly and a deaf daughter. One of these changes is described here for the first time. Although further studies are necessary, our results are encouraging enough to propose the analysis of AURKB in couples with reproductive problems.

Novedades en el Consenso Español. Visión desde la Pediatría en Atención Primaria / No disponible

Durante las últimas décadas, el Síndrome de Apneas/Hipopneas durante el Sueño (SAHS) en los niños, ha sido ampliamente reconocido como un trastorno frecuente, con importantes implicaciones clínicas y se ha convertido en un problema de Salud de primera magnitud. El SAHS en los niños, es el máximo exponente de los Trastornos Respiratorios del Sueño (TRS) y se asocia con importante morbilidad cardiovascular, endocrinometabólica y neurocognitiva, existiendo actualmente evidencias de lesión de órganos diana y daño celular. En el Documento de Consenso se realiza una revisión de la literatura en relación con la comorbilidad asociada al SAHS (AU)

No disponible

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms. In this paper, we describe a girl with a complex de novo copy number gain at Xq28 and non-skewed X-inactivation pattern that causes mental retardation and motor and language delay. This rearrangement implies triplication of the MECP2 and IRAK1 genes, but it does not span other proximal genes located in the common minimal region of patients affected by the MECP2 duplication syndrome. We conclude that the triplication leads to a severe phenotype due to random X-inactivation, while the preferential X chromosome inactivation in healthy carriers may be caused by a negative selection effect of the duplication on some proximal genes like ARD1A or HCFC1.

Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.

Sry-negative XX sex reversal in a French Bulldog.

Here, we describe a 3-month-old XX male French Bulldog. The diagnosis was based on the clinical signs, gonadal histology and cytogenetic analysis. Additionally, the dog was confirmed to be Sry negative by semi-quantitative reverse transcription polymerase chain reaction (sqRT-PCR). Canine Sry-negative XX sex reversal is a disorder of gonadal development where individuals who have a female karyotype develop testes or ovotestes. To our knowledge, this case is the first XX male sex reversion described in a French Bulldog.

First Report on Almond in Europe of Bacterial Spot Disease of Stone Fruits Caused by Xanthomonas arboricola pv. pruni.

Symptoms characteristic of bacterial spot disease of Prunus spp. (4) were observed on almond trees (Prunus dulcis (Mill.) Webb) in 14 localities of Comunidad Valenciana (eastern Spain) and Aragón (northeastern Spain) between 2006 and 2009. Symptoms were first noted in the spring and were observed until leaf fall. Initial infections began on leaves as small, angular, water-soaked spots, which mainly developed toward the tip and along the leaf margins. These water-soaking lesions were surrounded by chlorotic tissue, although chlorosis did not extend more than a few millimeters. Subsequently, the lesions turned light brown, necrotic, and sometimes the necrotic spots fell out. When the lesions coalesced, they produced large necrotic areas. Sometimes premature leaf drop of infected leaves was observed in severely affected trees. Infected fruits initially displayed sunken, corky lesions that oozed gum, which later became raised when the mesocarp dehydrated. Infected fruits either dropped prematurely or remained on trees after harvest. Cankers typical of bacterial spot disease of stone fruit trees were observed on branches and shoots. Isolations from diseased leaves and fruits yielded Xanthomonas-like colonies on YPGA medium (yeast extract, peptone, and glucose agar), which were subsequently purified and characterized. All strains were gram-negative rods, oxidase negative, and strictly aerobic and showed typical biochemical characteristics of the Xanthomonas genus (3). A collection of 70 strains were further identified by PCR with primers Y17CoF/Y17CoR (1) as Xanthomonas arboricola pv. pruni by comparison with reference strains ISPaVe B4 and ISPaVe B6 isolated from Prunus salicina in Italy. A selection of 46 strains were also analyzed by immunofluorescence (IF) and ELISA using commercial polyclonal antibodies from NEOGEN Europe Ltd. (Ayrshire, Scotland, UK) and SEDIAG S.A.S. (Longvic, France), respectively), although ELISA antibodies proved to be not specific for X. arboricola pv. pruni. Pathogenicity was confirmed by inoculation of 70 almond strains and the reference strains on leaves of potted almond trees and/or on detached leaves (2) with bacterial suspensions (107 CFU per ml). One leaf was inoculated at 8 to 10 sites per strain. Characteristic bacterial spot disease symptoms (4) appeared on all inoculated leaves after 1 week of incubation at 25°C and high humidity, but not on the negative controls infiltrated with sterile distilled water. The original pathogen was reisolated from lesions of inoculated leaves and confirmed by biochemical tests, IF and PCR. As observed in Spain, the disease produces serious damage on the most susceptible almond cultivars like Antoñeta, Guara, Marta, Mas Bovera, and Vayro and can be very harmful, with severity of infection depending upon the relative cultivar susceptibility and environmental conditions. Appropriate eradication measures were taken after the causal agent was confirmed as X. arboricola pv. pruni. This pathogen was previously reported on almond in Japan and New Zealand (4). To our knowledge, this is not only the first report on almond in Spain but also in Europe. References: (1) M. C. Pagani. Ph. D. thesis, North Carolina State University, Raleigh, 2004. (2) P. S. Randhawa and E. L. Civerolo. Phytopathology 75:1060, 1985. (3) L. Vauterin et al. Int. J. Syst. Bacteriol. 45:472, 1995. (4) J. M. Young. N. Z. J. Agric. Res. 20:105, 1977.

Laparoscopic surgery into mixed hiatal hernia. Results pre-operative and post-operative.

INTRODUCTION: The complications of the mixed hernia need, often, surgical treatment. In the asymtomatic patients this one treatment is controversial, due to her complex repair and the high percentage of relapse informed in the long term. The surgical classic routes, they present raised morbi-mortality related to the extent of the incisions, to long hospitable stays and slow recovery. MATERIAL AND METHODS: Between October, 2001 to November, 2007 we check 39 patients with hernia hiatal mixed with a middle ages of 65 years (35-78 years). In Lloyd-Davies s position, the content diminishes hernia and the redundant sack is resected. The diaphragmatic props are sutured by material not reabsorbable. Mesh of reinforcement intervened in 7/39 repairs. It concludes with a partial or complete antirreflux depending on the report. RESULTS: The operative average time was of 126 min; the hospital stay of 2.46 days. The complications perioperatives are principally cardiorespiratory. A patient died for an intestinal inadvertent perforation during the intervention and of late diagnosis. We realize traffic gastroduodenal to 12 months in 28 patients (71.7%). We find relapse in 8 patients (20.5%). Four asymtomatic patients, with chance find in the radiological control. Three patients with pirosis that needs treatment and one of the relapses needed reintervention for strangulation of a gastric volvulus. CONCLUSIONS: The laparoscopic surgery offers safety and efficiency with rapid postoperatory recovery, minor morbidity and hospitable stay. After the surgery, the long-term relapse presents similar results to the opened surgery, though the interposition of mesh can propitiate her decrease.

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ring chromosome 21. The present work analyses the different mechanisms that could have led to mosaicism.

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region. GTG-banding analyses, multiplex ligation-dependent probe amplification analyses, and studies by array-based comparative genomic hybridization were performed. The results of the analyses revealed a de novo 1.3 Mb deletion of the terminal 4p and a 1.1 Mb duplication in our patient, encompassing the WHS critical region. Interestingly, this unusual duplication/deletion rearrangement results in an intermediate phenotype that shares characteristics of the WHS and the 4p trisomy syndrome. The use of novel technologies in the genetic diagnosis leads to the description of new clinical syndromes; there is a growing list of microduplication syndromes. Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.

Tratamiento quirúrgico laparoscópico en la hernia de hiato mixta. Resultados peroperatorios y del seguimiento a medio plazo / Laparoscopic surgery into mixed hiatal hernia. Results pre-operative and post-operative

Introducción: las complicaciones de la hernia mixta requieren,con frecuencia, tratamiento quirúrgico. En los pacientes asintomáticoseste tratamiento es controvertido, debido a su complejareparación y al elevado porcentaje de recidivas informado a largoplazo. Las vías quirúrgicas clásicas presentan elevada morbimortalidadrelacionada con la amplitud de las incisiones, con largas estanciashospitalarias y lenta recuperación.Material y métodos: entre octubre de 2001 a noviembre de2007 revisamos 39 pacientes con hernia hiatal mixta con unaedad media de 65 años (35-78 años). En posición de Lloyd-Davies,se reduce el contenido herniario y se reseca el saco redundante.Se suturan los pilares diafragmáticos con material no reabsorbible.Se interpuso malla de refuerzo en 7/39 reparaciones. Sefinaliza con un antirreflujo parcial o completo dependiendo del informemanométrico.Resultados: el tiempo operatorio medio fue de 126 min. Laestancia hospitalaria de 2,46 días. Las complicaciones perioperatoriasson principalmente cardiorrespiratorias. Un paciente falleciópor una perforación intestinal inadvertida durante la intervencióny de diagnóstico tardío. Realizamos tránsito gastroduodenal alos 12 meses en 28 pacientes (71,7%). Encontramos recidiva en8 pacientes (20,5%). Cuatro pacientes asintomáticos, con hallaz-go casual en el control radiológico. Tres pacientes con pirosis querequiere tratamiento y una de las recidivas precisó reintervenciónpor estrangulación de un vólvulo gástrico.Conclusiones: la laparoscopia ofrece seguridad y eficacia conrápida recuperación postoperatoria, menor morbilidad y estanciahospitalaria. Tras la cirugía, la recidiva a largo plazo presenta similaresresultados a la cirugía abierta, aunque la interposición demalla puede propiciar su disminución(AU)

Introduction: the complications of the mixed hernia need, often,surgical treatment. In the asymtomatic patients this one treatmentis controversial, due to her complex repair and the high percentageof relapse informed in the long term. The surgical classicroutes, they present raised morbi-mortality related to the extent ofthe incisions, to long hospitable stays and slow recovery.Material and methods: between October, 2001 to November,2007 we check 39 patients with hernia hiatal mixed with amiddle ages of 65 years (35-78 years). In Lloyd-Davies's position,the content diminishes hernia and the redundant sack is resected.The diaphragmatic props are sutured by material not reabsorbable.Mesh of reinforcement intervened in 7/39 repairs. Itconcludes with a partial or complete antirreflux depending on thereport.Results: the operative average time was of 126 min; the hospitalstay of 2.46 days. The complications perioperatives are principallycardiorespiratory. A patient died for an intestinal inadvertentperforation during the intervention and of late diagnosis. Werealize traffic gastroduodenal to 12 months in 28 patients(71.7%). We find relapse in 8 patients (20.5%). Four asymtomaticpatients, with chance find in the radiological control. Three patientswith pirosis that needs treatment and one of the relapsesneeded reintervention for strangulation of a gastric volvulus.Conclusions: the laparoscopic surgery offers safety and efficiencywith rapid postoperatory recovery, minor morbidity andhospitable stay. After the surgery, the long-term relapse presentssimilar results to the opened surgery, though the interposition ofmesh can propitiate her decrease(AU)

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.

Vulnerability of human environment to risk: case of groundwater contamination risk.

Based on a theoretical revision of the social vulnerability concept, this article proposes a scheme of vulnerability indicators within the human environment focused on different aetiology risks. An adaptation of this generic scheme of vulnerability factors is set for the specific field of aquifer contamination risk, as well as a methodology for its analysis. Finally, model application examples are given for the Sierra de Líbar and Sierra de Mijas carbonate aquifers and the Vélez River detrital aquifer, all of which are located in the south of Spain. Obtained cartography results show a range of utilities for risk mitigation and permit appropriate spatial discrimination for its performance over different scales. The exposure and vulnerability of the groundwater contamination risk concept is evaluated in specific maps, taking into account the resident population as well as their assets.

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide variability displayed by this duplication in the phenotype. The WBCR microduplication may be associated with autistic spectrum disorder, but most reported cases do not show this behavioural disorder, or may even show a hypersociable personality, as with our patient. From the present case and a review of the 12 previously described, we conclude that the phenotype associated with duplication of WBCR can affect the same domains as WBCR deletion, but that they cluster near the polar ends of social relationship (autism-like v hypersociability), language (expressive language impairment v "cocktail party" speech), visuospatial (severe v normal), mental retardation (severe v mild) and dysmorphic (severe v mild) features.

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain]. / Mutaciones en el gen ARX y retraso mental no filiado: tres nuevos casos en España.

INTRODUCTION: Mental retardation has an approximated prevalence of 2% in the general population and its most frequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristaless-related homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. CASE REPORTS: We report three cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. CONCLUSION: The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation in males of nondrafted cause.

Criterios y niveles de complejidad en Cuidados Paliativos / No disponible

Introducción: los Cuidados Paliativos (CP) tienen como objetivo prevenir y aliviar el sufrimiento y mejorar la calidad de vida de los pacientes en situación terminal. Este periodo se caracteriza por la frecuente aparición de crisis de necesidades que generan una alta demanda de actuación por parte de los profesionales sanitarios. Esta demanda se incrementa especialmente en las situaciones de mayor complejidad. La atención de los casos más complejos por parte de los recursos específicos de CP, permite ofrecer a cada paciente el tratamiento más adecuado a su situación, y podría considerarse como un indicador de adecuación global de los CP. Objetivo: el objetivo de este trabajo es definir niveles de complejidad de los pacientes en situación terminal, para establecer los criterios de intervención de los recursos asistenciales, convencionales y específicos, en el Proceso Asistencial Integrado de CP de la Consejería de Salud de Andalucía en su edición de 2007. Material y método: se creó un grupo nominal. Sus miembros establecieron una serie de situaciones reconocidas como complejas en la literatura reciente, denominándolas elementos de complejidad. Los organizaron por categorías, los clasificaron según niveles de complejidad, y establecieron la recomendación de intervención de los diferentes tipos de recursos según la complejidad, siguiendo la metodología de grupo nominal.Resultados: se identificaron 37 elementos de complejidad procedentes de todas las áreas de evaluación y tratamiento en cuidados paliativos: síntomas, situación funcional y cognitiva, situación socioeconómica, nivel de información y comunicación, aspectos éticos, necesidades de tratamiento, conflictos de equipo. Posteriormente se clasificaron en 5 categorías: paciente, familia, profesionales, intervenciones terapéuticas y otras. Se generaron 4 niveles de complejidad a partir de elementos de cada una de las categorías: no complejo, baja complejidad, complejidad media y alta complejidad. Conclusiones: consideramos que esta clasificación es adecuada tanto para la atención ambulatoria y hospitalaria, como para la domiciliaria. Para comprobar esto último se propone su pilotaje mediante un estudio prospectivo en una Unidad de Hospitalización Domiciliaria (AU)

Background: the aim of Palliative Care (PC) is to alleviate and prevent suffering, as well as to improve quality of life for terminal patients. During this period, crises take place often and result in a high demand for health professionals. This type of demand is proportional to the level of complexity. The intervention of specialized palliative care teams in high complexity situations ensures most appropriate treatment according to the situation for each patient. This could be considered a palliative care indicator of global adequacy. Objective: the aim of this study was to define terminal patient complexity in order to establish criteria for interventions by conventional and specialized health resources within the «Palliative Care Integrated Caring Process» of the Andalusian Public Health Department. Material and method: a nominal group was created to establish the different situations considered as complex among the recent literature. This nominal group classified complexity elements in categories, and defined four different levels of complexity. After that the group suggested recommendations for different health interventions according to complexity level. Results: 37 complexity elements were identified from every area of assessment and PC management (function, symptoms and cognitive situation; socioeconomic situation; level of truth knowing and communication; ethics, treatment needs, team relationship; etc.). They were classified in 5 categories: patient, family, professionals, therapeutic interventions and other. Four levels of complexity were established by elements from every category: no complexity, and low, medium and high complexity. Conclusion: we think this classification is suitable to outpatient, hospital, and home care. We suggest a prospective study by a home care support team to verify the latter hypothesis (AU)

Mutaciones en el gen ARX y retraso mental no filiado: tres nuevos casos en España / Arx mutations and mental retardation of unknow etiology: Three new cases in Spain

Introducción. El retraso mental tiene una prevalencia aproximada del 2% en la población general, y la causa hereditaria más frecuente es el síndrome X frágil. Esta entidad afecta predominantemente a varones y está fundamentalmente causada por la expansión del triplete CGG en el gen FMR1. Recientemente, se ha demostrado que mutaciones en un nuevo gen llamado ARX (aristaless related homeobox) pueden ocasionar también una forma similar de retraso mental ligado al X, entreun amplio espectro de trastornos neurológicos relacionados (autismo, síndrome de Partington o síndrome de West, entre otros). La mutación más frecuentemente descrita, aproximadamente un 60% del total, es la duplicación de 24 pares de bases en el exón 2 (c.428_451 dup24), que produce una expansión de un tramo de polialanina en la proteína ARX. Casos clínicos.Se comunican tres casos de retraso mental no filiado, pertenecientes a dos familias distintas, en los que se halló la mutación en el gen ARX c.428_451 dup24 al realizar un estudio genético adicional al cribado de síndrome X frágil. Se describen los antecedentes personales y familiares, características fenotípicas y evolución de cada uno de ellos. Conclusión. El análisis molecular de dicha mutación debería considerarse de rutina para el diagnóstico genético de retraso mental en varones de causa no filiada

Introduction. Mental retardation has an approximated prevalence of 2% in the general population and its mostfrequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristalessrelated homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. Case reports. We reportthree cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. Conclusion. The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation inmales of nondrafted cause