Genetic diagnosis of basal ganglia disease in childhood.

AIM: To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition. METHOD: Children with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. Radiological pattern recognition was examined by hierarchical clustering analysis. RESULTS: We identified 22 genetic conditions in 30 out of 62 paediatric patients (37 males, 25 females; mean age at onset 2y, SD 3; range 0-10y; mean age at assessment 11y, range 1-25y) through gene panels (n=11), whole-exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6). Genetic aetiologies included mitochondrial diseases (57%), Aicardi-Goutières syndrome (20%), and monogenic causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. Radiological abnormalities included T2-hyperintense lesions (n=26) and lesions caused by calcium or manganese mineralization (n=9). Three clusters were identified: the pallidal, neostriatal, and striatal, plus the last including mtDNA defects in the oxidative phosphorylation system with prominent brain atrophy. Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi-Goutières syndrome. INTERPRETATION: Combined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. We propose a diagnostic algorithm which prioritizes early use of next-generation sequencing on the basis of three clusters of basal ganglia lesions.

COVID-19 pandemic, as experienced in the surgical service of a district hospital in Spain.

The coronavirus disease 2019, which is caused by severe acute respiratory syndrome coronavirus 2, was first identified in December 2019 in Wuhan, China, and has since spread rapidly, evolving into a full-blown pandemic. We would like to report our experience after 1 year of this pandemic in the surgical service of a district hospital in Spain. There have been many changes (including new protocols) that our service and the hospital have undergone, to adapt to the new situation. We believe that this experience can be useful for other professionals who have lived and are living a similar situation.

Enterovirus-A71 Rhombencephalitis Outbreak in Catalonia: Characteristics, Management and Outcome.

BACKGROUND: Between April and June 2016, an outbreak of rhombencephalitis (RE) caused by enterovirus (EV) A71 was detected in Catalonia, Spain-the first documented in Western Europe. The clinical characteristics and outcome of patients with this condition differed from those reported in outbreaks occurring in Southeast Asia. METHODS: Observational, multicenter study analyzing characteristics, treatment and outcome of patients with EV-A71 rhombencephalitis diagnosed in 6 publicly funded hospitals within the Catalonian Health Institute. A review of clinical characteristics, diagnosis, treatment and outcome of these patients was conducted. RESULTS: Sixty-four patients met the clinical and virologic criteria for rhombencephalitis caused by EV-A71. All patients had symptoms suggesting viral disease, mainly fever, lethargy, ataxia and tremor, with 30% of hand-foot-mouth disease. Intravenous immunoglobulin therapy was given to 44/64 (69%) patients and methylprednisolone to 27/64 (42%). Six patients (9%) required pediatric intensive care unit admission. Three patients had acute flaccid paralysis of 1 limb, and another had autonomic nervous system (ANS) dysfunction with cardiorespiratory arrest. Outcome in all patients (except the patient with hypoxic-ischemic encephalopathy) was good, with complete resolution of the symptoms. CONCLUSIONS: During the 2016 outbreak, rhombencephalitis without ANS symptoms was the predominant form of presentation and most patients showed no hand-foot-mouth disease. These findings contrast with those of other patient series reporting associated ANS dysfunction (10%-15%) and hand-foot-mouth disease (60%-80%). Complete recovery occurred in almost all cases. In light of the favorable outcome in untreated mild cases, therapies for this condition should be reserved for patients with moderate-severe infection. The main relevance of this study is to provide useful information for setting priorities, management approaches and adequate use of resources in future EV-A71 associated rhombencephalitis outbreaks.

Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage.

Preterm newborns with germinal matrix-intraventricular hemorrhage (GM-IVH) are at a higher risk of evidencing neurodevelopmental alterations. Present study aimed to explore the long-term effects that GM-IVH have on hippocampal subfields, and their correlates with memory. The sample consisted of 58 participants, including 36 preterm-born (16 with GM-IVH and 20 without neonatal brain injury), and 22 full-term children aged between 6 and 15 years old. All participants underwent a cognitive assessment and magnetic resonance imaging study. GM-IVH children evidenced lower scores in Full Intelligence Quotient and memory measures compared to their low-risk preterm and full-term peers. High-risk preterm children with GM-IVH evidenced significantly lower total hippocampal volumes bilaterally and hippocampal subfield volumes compared to both low-risk preterm and full-term groups. Finally, significant positive correlations between memory and hippocampal subfield volumes were only found in preterm participants together; memory and the right CA-field correlation remained significant after Bonferroni correction was applied (p = .002). In conclusion, memory alterations and both global and regional volumetric reductions in the hippocampus were found to be specifically related to a preterm sample with GM-IVH. Nevertheless, results also suggest that prematurity per se has a long-lasting impact on the association between the right CA-field volume and memory during childhood.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres. In total, we analysed the neurological features and mutation spectrum in 19 new SCEH/HIBCH patients. For natural history studies and phenotype to genotype associations we also included 70 previously reported patients. The 19 newly identified cases presented with Leigh syndrome (SCEH, n = 11; HIBCH, n = 6) and paroxysmal dystonia (SCEH, n = 2). Basal ganglia lesions (18 patients) were associated with small cysts in the putamen/pallidum in half of the cases, a characteristic hallmark for diagnosis. Eighteen pathogenic variants were identified, 11 were novel. Among all 89 cases, we observed a longer survival in HIBCH compared to SCEH patients, and in HIBCH patients carrying homozygous mutations on the protein surface compared to those with variants inside/near the catalytic region. The SCEH p.(Ala173Val) change was associated with a milder form of paroxysmal dystonia triggered by increased energy demands. In a child harbouring SCEH p.(Ala173Val) and the novel p.(Leu123Phe) change, an 83.6% reduction of the protein was observed in fibroblasts. The SCEH and HIBCH defects in the catabolic valine pathway were a frequent cause of Leigh syndrome in our cohort. We identified phenotype and genotype associations that may help predict outcome and improve clinical management.

Splicing factor SRSF1 controls T cell homeostasis and its decreased levels are linked to lymphopenia in systemic lupus erythematosus.

OBJECTIVE: Lymphopenia is a frequent clinical manifestation and risk factor for infections in SLE, but the underlying mechanisms are not fully understood. We previously identified novel roles for the RNA-binding protein serine arginine-rich splicing factor 1 (SRSF1) in the control of genes involved in signalling and cytokine production in human T cells. SRSF1 is decreased in T cells from patients with SLE and associates with severe disease. Because SRSF1 controls the expression of apoptosis-related genes, we hypothesized that SRSF1 controls T cell homeostasis and, when reduced, leads to lymphopenia. METHODS: We evaluated SRSF1 expression in T cells from SLE patients by immunoblots and analysed its correlation with clinical parameters. T cell conditional Srsf1 knockout mice were used to evaluate lymphoid cells and apoptosis by flow cytometry. Quantitative PCR and immunoblots were used to assess Bcl-xL mRNA and protein expression. SRSF1 overexpression was performed by transient transfections by electroporation. RESULTS: We found that low SRSF1 levels correlated with lymphopenia in SLE patients. Selective deletion of Srsf1 in T cells in mice led to T cell lymphopenia, with increased apoptosis and decreased expression of the anti-apoptotic Bcl-xL. Lower SRSF1 expression correlated with low Bcl-xL levels in T cells and lower Bcl-xL levels associated with lymphopenia in SLE patients. Importantly, overexpression of SRSF1 rescued survival of T cells from patients with SLE. CONCLUSION: Our studies uncovered a previously unrecognized role for SRSF1 in the control of T cell homeostasis and its reduced expression as a molecular defect that contributes to lymphopenia in systemic autoimmunity.

Assessment of targeted selective treatment criteria to control subclinical gastrointestinal nematode infections on sheep farms.

Control of sheep gastrointestinal nematode (GIN) infections mostly relies on the use of anthelmintics. Refugia-based control strategies as targeted selective treatments (TST) can delay anthelmintic resistance development, but the optimal decision criteria for selecting individuals to be treated in subclinical infection scenarios remain unclear. The present study aimed to evaluate the suitability of body condition score (BCS) and faecal egg counts (FEC) as treatment indicators and to determine their optimized threshold values for treatment in TST by determining the relationships of BCS, FEC and anthelmintic treatment with several productive parameters in pre-mating and pre-partum periods at an individual level. Deworming in pre-mating period increased BCS gain, but its magnitude was directly associated with strongyle FEC before treatment. Deworming also increased fertility in ewes with BCS < 2.75 and the proportion of lambing ewes that got pregnant during the first ovulation cycle. Nevertheless, treatment did not yield productive benefits in ewes with higher BCS values. On the other hand, deworming in the pre-partum lowered lamb peri-partum mortality and increased lamb weight at birth and the growth of lambs during lactation, especially in lambs born from ewes with strongyle FEC > 400 epg before treatment. These results showed that FEC and especially BCS can be potential decision criteria for the implementation of TST in these types of scenarios. The TST scheme derived from the present results on the control of GIN infections should include anthelmintic treatment of ewes with BCS lower than ≈ 3 approximately five weeks before mating and lambing. In the pre-lambing period, treatment may be unnecessary if flock mean strongyle FEC is lower than ≈ 200 epg, as the proportion of ewes with individual FEC > 400 epg would be very low. The results suggest that implementation of this TST scheme would provide benefits, such as the improvement of productivity, a rational management of parasites in refugia, and preservation of future efficacy of anthelmintics, in comparison to traditional deworming schemes.

An open-label phase IB study to evaluate GSK3052230 in combination with paclitaxel and carboplatin, or docetaxel, in FGFR1-amplified non-small cell lung cancer.

OBJECTIVES: GSK3052230 (FP-1039) is a soluble fusion protein that acts as ligand trap sequestering fibroblast growth factors (FGFs) involved in tumor growth and angiogenesis, while sparing the hormonal FGFs. Because of this selectivity, the molecule is predicted to avoid toxicities associated with small molecule inhibitors of FGFR, including hyperphosphatemia and retinal, nail, and skin toxicities. Herein we report the results of a phase 1b study where GSK3052330 was administered with standard of care chemotherapy in FGFR1-amplified squamous non-small cell lung cancer (sqNSCLC) patients. METHODS AND METHODS: Eligible patients with stage IV or recurrent metastatic sqNSCLC harboring FGFR1 gene amplification received escalating doses of GSK3052230 in combination with paclitaxel and carboplatin at the starting doses 200 mg/m2 and AUC of 6, respectively, in the first line setting (Arm A) or docetaxel 75 mg/m2 in second line (Arm B). The primary endpoints of the study were safety and tolerability, to identify a maximum tolerated dose (MTD), and to assess overall response rate (ORR) based on investigator assessment. RESULTS: Twenty-nine patients were enrolled into the study, including 20 patients on Arm A and 9 patients on Arm B. There were no dose limiting toxicities in either Arm and the MTD was not reached. The most common adverse events (AEs) were compatible with the chemotherapy backbone used in each Arm, including neutropenia, alopecia, nausea, arthralgia, asthenia, diarrhea and peripheral neuropathy. The overall response rate and median progression-free survival were 47% and 5.5 months, respectively, for Arm A and 0% and 4.6 months, respectively, for Arm B. CONCLUSION: GSK3052230 is a novel FGFR pathway inhibitor, which is well tolerated in combination with chemotherapy. Importantly, AEs associated with small molecule inhibitors of FGFR were not observed, as predicted by the unique mechanism of action of this drug.

Diagnostic and Interventional Nephrology in Spain: A snapshot of current situation.

BACKGROUND:: Diagnostic and Interventional Nephrology has been a rising field in recent years worldwide. Catheter insertion, renal biopsy, renal ultrasound, and peritoneal dialysis catheter or permanent dialysis catheter insertion are vital to our specialty. At present, many of these procedures are delegated to other specialties, generating long waiting lists and limiting diagnosis and treatment. METHODS:: An online survey was emailed to all Nephrology departments in Spain. One survey response was allowed per center. RESULTS:: Of 195 Nephrology departments, 70 responded (35.8%). Of them, 72.3% (52) had ultrasound equipment, 77.1% insert temporary jugular catheters, and 92.8% femoral. Up to 75.7% (53 centers) perform native renal biopsies, of which 35.8% (19) are real-time ultrasound guided by nephrologists. Transplant kidney biopsies are done in 26 centers, of which 46.1% (12) by nephrologists. Tunneled hemodialysis catheters are inserted in 27 centers (38.5%), peritoneal catheter insertion in 18 (31.6%), and only 2 centers (2.8%) perform arteriovenous fistulae angioplasty. In terms of ultrasound imaging, 20 centers (28.5%) do native renal ultrasound and 16 (22.8%) transplanted kidneys. Of all units 71.4% offer carotid ultrasound to evaluate cardiovascular risk, only in 15 centers (21%) by nephrologists. AVF ultrasound scanning is done in 55.7% (39). CONCLUSION:: Diagnostic and Interventional Nephrology is slowly spreading in Spain. It includes basic techniques to our specialty, allowing nephrologists to be more independent, efficient, and reducing waiting times and costs, overall improving patient care. Nowadays, more nephrologists aim to perform them. Therefore, appropriate training on different techniques should be warranted, implementing an official certification and teaching programs.

Measurements of signal intensity of globus pallidus and dentate nucleus suggest different deposition characteristics of macrocyclic GBCAs in children.

INTRODUCTION: The safety of using GBCAs to enhance the visibility of body structures is currently discussed due to possible gadolinium retention in brain structures. The aim of the study was to evaluate the effect of multiple exposures to macrocyclic GBCAs in children. MATERIALS AND METHODS: This retrospective, single-center study included data from 43 patients who had received ≥4 injections of macrocyclic GBCAs during MRI examinations over performed over 8 to 84 months. Signal intensity was measured on unenhanced T1-weighted MRI, and globus pallidus to thalamus (GP/Th) and dentate nucleus to pons (DN/P) ratios were calculated. The differences in ratios were tested with the Student's t-test or the Wilcoxon rank sum test. For categorical data, Pearson's chi-squared test was used. Relationships were analyzed with the Spearman's rank correlation coefficient. RESULTS: Patients with the mean age of 7.5 years (SD = 4.2) received 8.19 (SD = 3.63) injections of GBCAs on average. Differences in GP/Th and DN/P ratios between the first and the last measurement were insignificant. Children before the end of myelination process (≤2 years of age) had the first GP/Th ratio values significantly lower than those >2 years of age (p = 0.0284), which than increased at the final scan and reached the level similar to values obtained in the group of >2 years of age. CONCLUSIONS: Maturation of the brain may affect both signal intensity of brain structures and susceptibility to GBCAs; thus, assessment of signal intensity of the brain structures should be conducted taking into account the age of a child.

Situación de la nefrología diagnóstica e intervencionista en España / Performance of diagnostic and interventional nephrology in Spain

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Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy.

Purpose: To characterise brain lesions in dyskinetic cerebral palsy (DCP) using the semi-quantitative scale for structural MRI (sqMRI) and to investigate their relationship with motor, communication and cognitive function. Materials and methods: Thirty-nine participants (19 females, median age 21y) with DCP were assessed in terms of motor function, communication and a variety of cognitive domains. Whole-head magnetic resonance imaging (MRI) was performed including T1-MPRAGE, T2 turbo spin echo (axial plane), and fluid attenuated inversion recovery images (FLAIR). A child neurologist visually assessed images for brain lesions and scored these using the sqMRI. Ordinal, Poisson and binomial negative regression models identified which brain lesions accounted for clinical outcomes. Results: Brain lesions were most frequently located in the ventral posterior lateral thalamus and the frontal lobe. Gross (B = 0.180, p < .001; B = 0.658, p < .001) and fine (B = 0.136, p = .003; B = 0.540, p < .001) motor function were associated with global sqMRI score and parietal involvement. Communication functioning was associated with putamen involvement (B = 0.747, p < .028). Intellectual functioning was associated with global sqMRI score and posterior thalamus involvement (B = -0.018, p < .001; B = -0.192, p < .001). Selective attention was associated with global sqMRI score (B = -0.035, p < .001), parietal (B = -0.063, p = .023), and corpus callosum involvement (B = -0.448, p < .001). Visuospatial and visuoperceptive abilities were associated with global sqMRI score (B = -0.078, p = .007) and medial dorsal thalamus involvement (B = -0.139, p < .012), respectively. Conclusions: Key clinical outcomes in DCP are associated with specific observable brain lesions as indexed by a simple lesion scoring system that relies only on standard clinical MRI.

Weed suppression greatly increased by plant diversity in intensively managed grasslands: A continental-scale experiment.

Grassland diversity can support sustainable intensification of grassland production through increased yields, reduced inputs and limited weed invasion. We report the effects of diversity on weed suppression from 3 years of a 31-site continental-scale field experiment.At each site, 15 grassland communities comprising four monocultures and 11 four-species mixtures based on a wide range of species' proportions were sown at two densities and managed by cutting. Forage species were selected according to two crossed functional traits, "method of nitrogen acquisition" and "pattern of temporal development".Across sites, years and sown densities, annual weed biomass in mixtures and monocultures was 0.5 and 2.0 t  DM ha-1 (7% and 33% of total biomass respectively). Over 95% of mixtures had weed biomass lower than the average of monocultures, and in two-thirds of cases, lower than in the most suppressive monoculture (transgressive suppression). Suppression was significantly transgressive for 58% of site-years. Transgressive suppression by mixtures was maintained across years, independent of site productivity.Based on models, average weed biomass in mixture over the whole experiment was 52% less (95% confidence interval: 30%-75%) than in the most suppressive monoculture. Transgressive suppression of weed biomass was significant at each year across all mixtures and for each mixture.Weed biomass was consistently low across all mixtures and years and was in some cases significantly but not largely different from that in the equiproportional mixture. The average variability (standard deviation) of annual weed biomass within a site was much lower for mixtures (0.42) than for monocultures (1.77). Synthesis and applications. Weed invasion can be diminished through a combination of forage species selected for complementarity and persistence traits in systems designed to reduce reliance on fertiliser nitrogen. In this study, effects of diversity on weed suppression were consistently strong across mixtures varying widely in species' proportions and over time. The level of weed biomass did not vary greatly across mixtures varying widely in proportions of sown species. These diversity benefits in intensively managed grasslands are relevant for the sustainable intensification of agriculture and, importantly, are achievable through practical farm-scale actions.

White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.

BACKGROUND: Dyskinetic cerebral palsy (CP) is one of the most disabling motor types of CP and has been classically associated with injury to the basal ganglia and thalamus. Although cognitive dysfunction is common in CP, there is a paucity of published quantitative analyses investigating the relationship between white matter (WM) microstructure and cognition in this CP type. AIMS: This study aims (1) to compare brain WM microstructure between people with dyskinetic CP and healthy controls, (2) to identify brain regions where WM microstructure is related to intelligence and (3) to identify brain regions where WM microstructure is related to executive function in people with dyskinetic CP and (4) to identify brain regions where the correlations are different between controls and people with CP in IQ and executive functions. PATIENTS AND METHODS: Thirty-three participants with dyskinetic CP (mean ± SD age: 24.42 ± 12.61, 15 female) were age and sex matched with 33 controls. Participants underwent a comprehensive neuropsychological battery to assess intelligence quotient (IQ) and four executive function domains (attentional control, cognitive flexibility, goal setting and information processing). Diffusion weighted MRI scans were acquired at 3T. Voxel-based whole brain groupwise analyses were used to compare fractional anisotropy (FA) and of the CP group to the matched controls using a general lineal model. Further general linear models were used to identify regions where white matter FA correlated with IQ and each of the executive function domains. RESULTS: White matter FA was significantly reduced in the CP group in all cerebral lobes, predominantly in regions connected with the parietal and to a lesser extent the temporal lobes. There was no significant correlation between IQ or any of the four executive function domains and WM microstructure in the control group. In participants with CP, lower IQ was associated with lower FA in all cerebral lobes, predominantly in locations that also showed reduced FA compared to controls. Attentional control, goal setting and information processing did not correlate with WM microstructure in the CP group. Cognitive flexibility was associated with FA in regions known to contain connections with the frontal lobe (such as the superior longitudinal fasciculus and cingulum) as well as regions not known to contain tracts directly connected with the frontal lobe (such as the posterior corona radiata, posterior thalamic radiation, retrolenticular part of internal capsule, tapetum, body and splenium of corpus callosum). CONCLUSION: The widespread loss in the integrity of WM tissue is mainly located in the parietal lobe and related to IQ in dyskinetic CP. Unexpectedly, executive functions are only related with WM microstructure in regions containing fronto-cortical and posterior cortico-subcortical pathways, and not being specifically related to the state of fronto-striatal pathways which might be due to brain reorganization. Further studies of this nature may improve our understanding of the neurobiological bases of cognitive impairments after early brain insult.

Whole-brain structural connectivity in dyskinetic cerebral palsy and its association with motor and cognitive function.

Dyskinetic cerebral palsy (CP) has long been associated with basal ganglia and thalamus lesions. Recent evidence further points at white matter (WM) damage. This study aims to identify altered WM pathways in dyskinetic CP from a standardized, connectome-based approach, and to assess structure-function relationship in WM pathways for clinical outcomes. Individual connectome maps of 25 subjects with dyskinetic CP and 24 healthy controls were obtained combining a structural parcellation scheme with whole-brain deterministic tractography. Graph theoretical metrics and the network-based statistic were applied to compare groups and to correlate WM state with motor and cognitive performance. Results showed a widespread reduction of WM volume in CP subjects compared to controls and a more localized decrease in degree (number of links per node) and fractional anisotropy (FA), comprising parieto-occipital regions and the hippocampus. However, supramarginal gyrus showed a significantly higher degree. At the network level, CP subjects showed a bilateral pathway with reduced FA, comprising sensorimotor, intraparietal and fronto-parietal connections. Gross and fine motor functions correlated with FA in a pathway comprising the sensorimotor system, but gross motor also correlated with prefrontal, temporal and occipital connections. Intelligence correlated with FA in a network with fronto-striatal and parieto-frontal connections, and visuoperception was related to right occipital connections. These findings demonstrate a disruption in structural brain connectivity in dyskinetic CP, revealing general involvement of posterior brain regions with relative preservation of prefrontal areas. We identified pathways in which WM integrity is related to clinical features, including but not limited to the sensorimotor system. Hum Brain Mapp 38:4594-4612, 2017. © 2017 Wiley Periodicals, Inc.

Evolución de las cajas de polyetheretherketone (PEEK). Estudio clínico y radiológico / Évolution des cages en polyétheréthercétone (PEEK). Étude clinique et radiologique / Evolution of polyetheretherketone (PEEK) boxes. Clinical and radiological study

Introducción: las cajas cervicales son implantes desarrollados como una alternativa a la utilización del injerto óseo estructural para la fusión cervical anterior. El objetivo de este estudio fue analizar la clínica y los resultados radiológicos en una serie de pacientes sometidos a disectomía y descompresión cervical anterior, a los que se les implantó una caja PEEK. Método: estudio retrospectivo, descriptivo, longitudinal de una serie de 78 pacientes incluidos en el estudio desde el año 2007 al 2013. El control radiológico incluyó radiografía anteroposterior y lateral. El seguimiento clínico y radiológico de los pacientes se llevó a cabo desde los 3 meses hasta los 12 meses. Resultados: 65 pacientes tuvieron una evolución clínica favorable (83,3 por ciento) y la evolución radiológica confirmó que 66 pacientes (84,6 por ciento) tenían una buena colocación del injerto, sin lesiones en espacios adyacentes con una fusión correcta. Conclusiones: hasta la fecha hay pocos estudios descriptivos sobre el implante de las cajas PEEK, los resultados mostrados en este trabajo están acordes a los publicados con anterioridad en este mismo campo, lo que da validez al trabajo presentado. Este estudio confirma los buenos resultados clínicos y radiológicos de pacientes a los que se les implantó una caja PEEK; se muestra su eficacia en la discectomía cervical anterior y artrodesis(AU)

Introduction: Cervical cases are implants developed as an alternative to the use of structural bone graft for anterior cervical fusion. The objective of this study was to analyze the clinical and radiological results in a series of patients submitted to anterior cervical dissectomy and decompression, to whom a PEEK box was implanted. Method: A retrospective, descriptive, longitudinal study was conducted in a series of 78 patients included in the study from 2007 to 2013. Radiological control included anteroposterior and lateral radiographies. Clinical and radiological follow-up of these patients was carried out from 3 months to 12 months. Results: 65 patients had a favorable clinical course (83.3 percent) and the radiological evolution confirmed that 66 patients (84.6 percent) had a good placement of the graft without lesions in adjacent spaces with a correct fusion. Conclusions: To date there are few descriptive studies on the implantation of PEEK boxes. This paper results are in line with those published previously in this same field, which legitimate the presented work. This study confirms the good clinical and radiological results in patients who were implanted with a PEEK box; its effectiveness in anterior cervical discectomy and arthrodesis is shown(AU)

Introduction: Les cages cervicales sont des implants développés comme alternative de la greffe osseuse structurelle pour la fusion cervicale antérieure. Le but de cette étude est d'analyser la technique et les résultats radiologiques dans une série de patients traités par discectomie et décompression cervicale antérieure, et implantation d'une cage PEEK. Méthodes: Étude rétrospective, descriptive et longitudinale d'une série de 78 patients inclus dans une étude depuis l'année 2007 jusqu'à l'année 2013. L'étude radiologique a compris des clichés en position antéro-postérieure et latérale. Le suivi clinique et radiologique des patients a pris de 3 à 12 mois. Résultats: L'évolution clinique a été satisfaisante chez 65 patients (83,3 pourcent), tandis que l'étude radiologique a confirmé que le greffon était bien placé, il n'y avait pas de lésions dans les espaces adjacentes, et la fusion était correcte chez 66 patients (84,6 pourcent). Conclusions: Jusqu'à maintenant, il y a peu d'études descriptives abordant l'implantation des cages PEEK. Le présent travail est validé, car ses résultats sont en concordance avec les travaux publiés auparavant dans ce domaine. Cette étude confirme les bons résultats obtenus chez les patients ayant subi l'implantation d'une cage PEEK ; son efficacité est démontrée dans la discectomie cervicale antérieure et l'arthrodèse(AU)

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.

Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions.

As Parcerias para o Desenvolvimento Produtivo em saúde na nova agenda de desenvolvimento nacional / Production Development Partnership in Healthcare: Public procurement within the Brazilian development agenda

RESUMO Ao refletir seu caráter sistêmico, as Parcerias para o Desenvolvimento Produtivo (PDP) representam uma inflexão na política de saúde e constituem o principal instrumento de ação pública da comunidade de política desenvolvimentista de saúde. Considerando a relevância da saúde para uma trajetória de desenvolvimento nacional que alia competitividade econômica e inclusão social, este artigo visa analisar os elementos político-institucionais que condicionam o desenvolvimento nacional na política de saúde, com destaque para as PDP. Para tanto, utiliza o arcabouço teórico da análise cognitiva das políticas públicas visando identificar como as instituições orientam suas estratégias e as preferências dos atores, e como influenciam os resultados da ação pública.

ABSTRACT By reflecting their systemic nature, the Production Development Partnerships (PDP) in Healthcare represent a shift in healthcare policy and constitute the main instrument of public action on the part of the healthcare development policy community. Considering the importance of healthcare to a national development trajectory that combines economic competitiveness and social inclusion, this article aims to analyze the political and institutional factors that affect national development in healthcare policy, by highlighting the PDP. In order to do so, it uses the theoretical framework of cognitive analysis of public policies to identify how institutions manage their strategies and the preferences of the actors involved, and how they influence the results of public action.

El intervalo QT corregido durante la hipotermia terapéutica en la encefalopatía hipóxico-isquémica / Corrected QT interval during therapeutic hypothermia in hypoxic ischaemic encephalopathy

INTRODUCCIÓN: La hipotermia es el tratamiento estándar en la encefalopatía hipóxico isquémica (EHI) a pesar de que todavía no se conocen todos sus efectos y complicaciones. La bradicardia sinusal está ampliamente descrita en la literatura como consecuencia de dicho enfriamiento pero se ha estudiado poco la actividad eléctrica cardiaca en este grupo de pacientes. OBJETIVO: Determinar si existe un alargamiento del intervalo QT corregido (QTc) durante la hipotermia en neonatos con EHI moderada-grave y su evolución durante el tratamiento. MATERIAL Y MÉTODOS: Se reclutó a pacientes con EHI tratados con hipotermia entre noviembre del 2012 y octubre del 2013. Se realizaron electrocardiogramas (ECG) durante la hipotermia (uno cada 24 h durante el tratamiento) y durante el recalentamiento (a 34,5, 35,5 y 36,5°C). Se realizó un séptimo ECG a la semana de vida. RESULTADOS: Se incluyó a un total de 19 pacientes. Se observó un alargamiento del QTc en todos los pacientes durante la hipotermia. En 84% de los pacientes (n=16), el alargamiento se apreció en todos los ECG durante la hipotermia. Tras el recalentamiento, todos los pacientes presentaron una normalización del mismo. No se encontraron diferencias estadísticamente significativas al evaluar la prolongación del QTc según el grado de EHI (p = 0,192) y según el uso de soporte inotrópico o no (p = 0,669). Ningún paciente presentó arritmias potencialmente graves. CONCLUSIONES: La hipotermia moderada aplicada a los recién nacidos con EHI moderada-grave parece inducir una prolongación en el intervalo QTc temporal que se resuelve con el recalentamiento del paciente hasta temperatura fisiológica

INTRODUCTION: Therapeutic hypothermia is the standard treatment for hypoxic ischaemic encephalopathy (HIE), despite not knowing all its effects and complications. Sinus bradycardia is one of the consequences of cooling that has been previously documented in the literature, but little is known about the cardiac electrical activity in these patients. OBJECTIVE: To determine the corrected QT (QTc) interval in newborns treated with therapeutic hypothermia for HIE. MATERIAL AND METHODS: A prospective observational study was conducted in all patients treated with hypothermia for HIE that were admitted to our Unit between November 2012 and October 2013. ECGs were performed during hypothermia (every 24h), during the re-warming period (at 34.5°C, 35.5°C, 36.5°C), and on the 7th day of life. RESULTS: A total of 19 patients were included. A prolonged QTc was observed in all patients during hypothermia, and 84% (n=16) had prolonged QTc in all the ECGs during treatment. In 3 patients, one of the ECGs did not have a prolonged QTc. After re-warming, the QTc interval returned to normal in all patients. No statistically significant differences were seen when the degree of HIE (P=.192) or the use of inotropic support (P=.669) were considered. CONCLUSIONS: Therapeutic hypothermia applied to asphyxiated newborns with HIE seems to induce a QTc prolongation that resolves when the patient regains physiological temperature