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Abstract  Loquat species (Eriobotrya japonica Lindl.) originated in China, later was introduced in Japan. However, introduction in Europe occurred much later, in 18th century, it was introduced as an ornamental tree. Since then, the species was very well adapted to the Mediterranean climate, mainly in South East of Spain, where is located more than 50% of total European crop production. A European Project titled ‘Conservation, evaluation and collection of underutilized fruit species’ supported surveys and collection of plant material from these species in the Mediterranean basin countries. One of these surveys resulted in a germplasm collection of loquat established at IVIA, Valencia, Spain. This collection is being extended with new accessions collected across the world, currently the collection have 123 accessions under study. Germplasm management needs first a characterization of the plant material introduced and second diversity studies into the collection that could point out the variability pattern, to establish groups of accessions with similar traits and the most significant variables. These results allow organizing the information gathered for further uses. In this paper, 62 accessions from the IVIA germplasm collection were studied. Results from 43 variables were gathered and data studied by multivariate analysis. The analysis allowed summarizing the data tables with new variables containing most of the information. These results along with those obtained in the coming years will allow define a nuclear collection (minimum number of accessions that contained all the variability present in the collection). [ABSTRACT FROM AUTHOR]

Low-grade gliomas, especially glioneuronal tumors, are a common cause of epilepsy in children. Seizures associated with low-grade pediatric tumors are medically refractory and present a significant burden to patients. Often, morbidity and patients´ quality of life are determined rather by the control of seizures than the oncological process itself and the resolution of epilepsy represents an important part in the treatment of LGGs. The pathogenesis of tumor-related seizures in focal LGG tumors is multifactorial, and mechanisms differ probably among patients and tumor types. Pediatric low-grade tumors associated with epilepsy include a series of neoplasms that have a pure astrocytic or glioneuronal lineage. They are usually benign tumors with a neocortical localization typically in the temporal lobes, but also in other supratentorial locations. Gangliogliomas and dysembryoplastic neuroepithelial tumors (DNET) are the most common entities together with astrocytic gliomas (pilocytic astrocytomas and pleomorphic xanthoastrocytoma) and angiocentric gliomas, and dual pathology is found in up to 40% of glioneuronal tumors. The treatment of low-grade gliomas and associated epilepsy is based mainly on resection and the extent of surgery is the main predictor of postoperative seizure control in patients with a LGG. Long-term epilepsy-associated tumors (LEATs) tend to be well-circumscribed, and therefore, the chances for a complete resection and epilepsy control with a safe approach are very high. New treatments have emerged as alternatives to open microsurgical approaches, including laser thermal ablation or the use of BRAF inhibitors. Future advances in identifying seizure-related biomarkers and molecular tumor pathways will facilitate targeted treatment strategies that will have a deep impact both in oncologic and epilepsy outcomes., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: Magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) has been proven safe and effective for the treatment of focal epilepsy of different etiologies. It has also been used to disconnect brain tissue in more extensive or diffuse epilepsy, such as corpus callosotomy and hemispherotomy., Methods: In this study, we report a case of temporo-parieto-occipital disconnection surgery performed using MRIgLITT assisted by a robotic arm for refractory epilepsy of the posterior quadrant. A highly realistic cadaver simulation was performed before the actual surgery., Results: The patient was a 14-year-old boy whose seizures began at the age of 8. The epilepsy was a result of a left perinatal ischemic event that caused a porencephalic cyst, and despite receiving multiple antiepileptic drugs, the patient continued to experience daily seizures which led to the recommendation of surgery., Conclusions: A Wada test lateralized language in the right hemisphere. Motor and sensory function was confirmed in the left hemisphere through magnetic resonance imaging functional studies and NexStim. The left MRIgLITT temporo-parieto-occipital disconnection disconnection was achieved using 5 laser fibers. The patient followed an excellent postoperative course and was seizure-free, with no additional neurological deficits 24 months after the surgery., (Copyright © 2024 Elsevier Inc. All rights reserved.)

The p.Arg301Gln variant in the α -galactosidase A gene ( GLA ) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p.Arg301Gln variant in the GLA gene associated with AFD disease. Forty-nine p.Arg301Gln GLA carriers, 41% male, were analyzed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of symptoms onset was 41 years; compared to women, men presented symptoms earlier and with a shorter delay to diagnosis. The typical clinical triad-cornea verticillate, neuropathic pain, and angiokeratomas-affected only 20% of the cohort, with no differences between genders. During follow-up, almost 20% of the patients presented some type of nonfatal cardiovascular and renal event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Residual levels were the most common finding of α-GAL A enzyme activity, only a few women had a normal level; a small proportion of men had undetectable levels. The incidence of combined outcomes including all causes of death was 33%, and the cumulative incidence of all-cause mortality was 9% at the follow-up. Patients carrying the p.Arg301Gln GLA variant have a high penetrance, with predominantly cardiorenal involvement and clinical onset of the disease in middle age. Only a small proportion showed the classic clinical presentation of AFD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype-phenotype correlation could be useful from a practical clinical point of view and for future decision making.

Objective: In this study, we present our experience with 1.5-T high-field intraoperative magnetic resonance imaging (ioMRI) for different neuro-oncological procedures in a pediatric population, and we discuss the safety, utility, and challenges of this intraoperative imaging technology., Methods: A pediatric consecutive-case series of neuro-oncological surgeries performed between February 2020 and May 2022 was analyzed from a prospective ioMRI registry. Patients were divided into four groups according to the surgical procedure: intracranial tumors (group 1), intraspinal tumors (group 2), stereotactic biopsy for unresectable tumors (group 3), and catheter placement for cystic tumors (group 4). The goal of surgery, the volume of residual tumor, preoperative and discharge neurological status, and postoperative complications related to ioMRI were evaluated., Results: A total of 146 procedures with ioMRI were performed during this period. Of these, 62 were oncology surgeries: 45 in group 1, two in group 2, 10 in group 3, and five in group 4. The mean age of our patients was 8.91 years, with the youngest being 12 months. ioMRI identified residual tumors and prompted further resection in 14% of the cases. The mean time for intraoperative image processing was 54 ± 6 min. There were no intra- or postoperative security incidents related to the use of ioMRI. The reoperation rate in the early postoperative period was 0%., Conclusion: ioMRI in pediatric neuro-oncology surgery is a safe and reliable tool. Its routine use maximized the extent of tumor resection and did not result in increased neurological deficits or complications in our series. The main limitations included the need for strict safety protocols in a highly complex surgical environment as well as the inherent limitations on certain patient positions with available MR-compatible headrests., Competing Interests: The authors confirm that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Becerra, Hinojosa, Candela, Culebras, Alamar, Armero, Echaniz, Artés, Munuera and Muchart.)

Objective: Since 2007, the authors have performed 34 hemispherotomies and 17 posterior quadrant disconnections (temporoparietooccipital [TPO] disconnections) for refractory epilepsy at Sant Joan de Déu Barcelona Children's Hospital. Incomplete disconnection is the main cause of surgical failure in disconnective surgery, and reoperation is the treatment of choice. In this study, 6 patients previously treated with hemispherotomy required reoperation through open surgery. After the authors' initial experience with real-time MRI-guided laser interstitial thermal therapy (MRIgLITT) for hypothalamic hamartomas, they decided to use this technique instead of open surgery to complete disconnective surgeries. The objective was to report the feasibility, safety, and efficacy of MRIgLITT to complete hemispherotomies and TPO disconnections for refractory epilepsy in pediatric patients., Methods: Eight procedures were performed on 6 patients with drug-resistant epilepsy. Patient ages ranged between 4 and 18 years (mean 10 ± 4.4 years). The patients had previously undergone hemispherotomy (4 patients) and TPO disconnection (2 patients) at the hospital. The Visualase system assisted by a Neuromate robotic arm was used. The ablation trajectory was planned along the residual connection. The demographic and epilepsy characteristics of the patients, precision of the robot, details of the laser ablation, complications, and results were prospectively collected., Results: Four patients underwent hemispherotomy and 2 underwent TPO disconnection. Two patients, including 1 who underwent hemispherotomy and 1 who underwent TPO disconnection, received a second laser ablation because of persistent seizures and connections after the first treatment. The average precision of the system (target point localization error) was 1.7 ± 1.4 mm. The average power used was 6.58 ± 1.53 J. No complications were noted. Currently, 5 of the 6 patients are seizure free (Engel class I) after a mean follow-up of 20.2 ± 5.6 months., Conclusions: According to this preliminary experience, laser ablation is a safe method for complete disconnective surgeries and allowed epilepsy control in 5 of the 6 patients treated. A larger sample size and longer follow-up periods are necessary to better assess the efficacy of MRIgLITT to complete hemispherotomy and TPO disconnection, but the initial results are encouraging.

Objective: Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medicines Agency in April 2018, the authors began to use it for the treatment of hypothalamic hamartomas (HHs) in pediatric patients with the assistance of a robotic arm. In this study, the authors report their initial experience describing the surgical technique, accuracy of the robotic arm, safety, and efficacy., Methods: The laser fiber was placed with the assistance of the stereotactic robotic arm. The accuracy of the robotic arm for this procedure was calculated by comparing the intraoperative MRI to the preoperative plan. Common demographic and seizure characteristics of the patients, laser ablation details, complications, and short-term seizure outcomes were prospectively collected., Results: Sixteen procedures (11 first ablations and 5 reablations) were performed in 11 patients between 15 months and 17 years of age (mean age 6.4 years) with drug-resistant epilepsy related to HHs. The mean target point localization error was 1.69 mm. No laser fiber needed to be repositioned. The mean laser power used per procedure was 4.29 W. The trajectory of the laser fiber was accidentally ablated in 2 patients, provoking transient hemiparesis in one of these patients. One patient experienced postoperative somnolence and syndrome of inappropriate antidiuretic hormone secretion, and 2 patients had transient oculomotor (cranial nerve III) palsy. Fifty-four percent of the patients were seizure free after the first ablation (mean follow-up 22 months, range 15-33 months). All 5 patients who experienced an epilepsy relapse underwent a second treatment, and 4 remain seizure free at least 5 months after reablation., Conclusions: In the authors' experience, the robotic arm was sufficiently accurate for laser fiber insertion, even in very young patients. MRgLITT appears to be an effective treatment for selected cases of HH. MRgLITT for HH is a minimally invasive procedure with appealing safety features, as it allows delivery of energy precisely under real-time MRI control. Nonetheless, complications may occur, especially in voluminous HHs. The amount of delivered energy and the catheter cooling system must be closely monitored during the procedure. A larger sample size and longer follow-up duration are needed to judge the efficacy and safety of MRgLITT for HH more rigorously. This initial experience was very promising.

Background: Stereo-electroencephalography (SEEG) is a well-known invasive diagnostic method for drug-resistant epilepsy (DRE). Its rate of complications is relatively low, being the intracranial hemorrhage (ICH) the most relevant. Most centers perform immediate imaging studies after SEEG to rule out complications. However, delayed intracranial hemorrhages (DIH) can occur despite normal imaging studies in the immediate postoperative period., Methods: We performed a retrospective review of DRE pediatric patients operated on SEEG between April 2016 and December 2020 in our institution. After implantation, an immediate postoperative CT was performed to check electrode placement and rule out acute complications. An additional MRI was performed 24 h after surgery. We collected all postoperative hemorrhages and considered them as major or minor according to Wellmer´s classification., Results: Overall, 25 DRE patients were operated on SEEG with 316 electrodes implanted. Three ICHs were diagnosed on postoperative imaging. Two of them were asymptomatic requiring no treatment, while the other needed surgical evacuation after clinical worsening. The total risk of hemorrhage per procedure was 12%, but just one third of them were clinically relevant. Two hemorrhages were not visible on immediate postoperative CT, being incidentally diagnosed in the 24 h MRI. We recorded them as DIH and are reported in detail., Conclusion: Few reports of DIH after SEEG exist in the literature. It remains unclear whether these cases are late occurring hemorrhages or immediate postoperative hemorrhages undiagnosed on initial imaging. According to our findings, we recommend to perform additional late postoperative imaging to diagnose these cases and manage them accurately., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus., Methods: We review our institutional series of hydrocephalus associated with MCAP and review the literature, analyzing the causes that could originate the hydrocephalus and the different types of treatments proposed for them., Results: Of our patients treated with ventriculoperitoneal (VP) shunt, one suffered a surgical revision of the shunt and died due to a cranial trauma unrelated to her syndrome or the previous shunt surgery, and the other did not undergo surgical revisions until the end of her follow-up. Our patients treated with endoscopic third ventriculostomy (ETV) have improved their symptomatology and have not suffered of any complications related to the hydrocephalus after the ETV surgery., Conclusions: We update the treatment of MCAP-associated hydrocephalus and propose ETV as a valid treatment, as it seems a safe procedure with a low rate of complications., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Real-time MRI-guided laser interstitial thermal therapy (LITT) is a challenging procedure due to its technical complexity, as well as the need for efficient multidisciplinary teamwork and transfer of an anesthetized patient between operating room (OR) and magnetic resonance (MR). A highly realistic simulation was developed to design the safest process before being applied to real patients. In this report, authors address the description of the methodology used for this simulation and its purposefulness., Methods: The entire image planning, anesthetic, and surgical process were performed on a modified pediatric simulation mannequin with a brain made of medical grade silicone including a hypothalamic hamartoma. Preoperative CT and MR were acquired. Stereotactic insertion of the optical fiber was assisted by the Neuromate® stereotactic robot. Laser ablation was performed with the Medtronic Visualase® MRI-guided system in a 3T Phillips Ingenia® MR scanner. All the stages of the process, participants, and equipment were the same as planned for a real surgery., Results: No critical errors were found in the process design that prevented the procedure from being performed with adequate safety. Specific proposals for team positioning and interaction in patient transfers and in MR room were validated. Some specific elements that could improve safety were identified., Conclusion: Highly realistic simulation has been an extremely useful tool for safely planning LITT, because professionals were able to take actions in the workflow based not on ideas but on lived experiences. It contributed definitively to build a well-coordinated surgical team that worked safely and more efficiently.

Background: COVID-19 pandemic is presenting serious challenges to the world's healthcare systems. The high communicability of the COVID-19 necessitates robust medical preparedness and vigilance., Objective: To report on the simulation-based training and test preparedness activities to prepare healthcare workers (HCWs) for effective and safe handling of patients with COVID-19., Methodology: Two activities were conducted: simulation-based training to all HCWs and a full-scale unannounced simulation-based disaster exercise at King Fahad Medical City (KFMC). The online module was designed to enhance the knowledge on COVID-19. This module was available to all KFMC staff. The five hands-on practical part of the course was available to frontliner HCWs. The unannounced undercover simulated patients' full-scale COVID-19 simulation-based disaster exercise took place in the emergency department over 3 hours. Six scenarios were executed to test the existing plan in providing care of suspected COVID-19 cases., Results: 2620 HCWs took the online module, 17 courses were conducted and 337 frontliner HCWs were trained. 94% of learners were satisfied and recommended the activity to others. The overall compliance rate of the full-scale COVID-19 disaster drill with infection control guidelines was 90%. Post-drill debriefing sessions recommended reinforcing PPE training, ensuring availability of different sizes of PPEs and developing an algorithm to transfer patients to designated quarantine areas., Conclusion: Simulation-based training and preparedness testing activities are vital in identifying gaps to apply corrective actions immediately. In the presence of a highly hazardous contagious disease like COVID-19, such exercises are a necessity to any healthcare institution., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

The aim of the present in vitro study was to assess the modes of failures under static load among titanium (Ti) and 1- and 2-piece zirconia abutments. The 1- and 2-piece zirconia abutment specimens were fabricated from prescanned Ti abutments. Twenty-one implant abutments and 21 implant replicas were equally divided into 3 groups as follows: (a) Group 1 (Titanium group); (b) Group 2 (1-piece zirconia abutment group); and (c) Group 3: 2-piece zirconia abutment group). A 250 000-cycle linear fatigue load ranging between 10 N and 210 N was applied to all specimens using an all-electric dynamic test instrument. The specimens were loaded until they fractured. In all groups, assessment of mode of fracture was done on visual assessment by a trained and calibrated investigator. Prior sample-size estimation was performed; and sample distribution was assessed using the Kolmogorov and Shapiro tests. Screw fracture (n = 7) and abutment bending at the apical part (n = 7) occurred in the Ti group. In the 1-piece zirconia group, screw and abutment fractures occurred in 7 and 7 cases, respectively. In the 2-piece zirconia screw fracture (n = 7) above the Ti zirconia junction (transgingival segment) and abutment fracture (n = 7) were determined as the failure modes. In vitro, the 1-piece zirconia abutments are more fracture resistant than titanium and 2-piece zirconia abutments. From a clinical perspective, further studies are needed to determine the minimum static load value required to induce fracture of the 1- and 2-piece zirconia abutments.

Objectives:  The objective was to assess modes of failures under static load (SL) among titanium (Ti) and one- and two-piece zirconia abutment (ZA) in vitro ., Materials and Methods:  The Ti abutments were digitally scanned for the fabrication of the one- and two-piece zirconia abutment specimens. This was done to standardize the design of the one-piece abutment and make it the blueprint of the Ti abutment. Twenty-one implant abutments and 21 implant replicas were categorized into three groups as follows: group 1 (Titanium group), group 2 (one-piece ZA group), and group 3 (two-piece ZA group). A 250K-cycle, linear fatigue-load, reaching 10 to 210 Newton (N), was put on all specimens using an all-electric dynamic test instrument and the specimens were loaded until fracture., Statistical Analysis:  Assessment of mode of fracture among the groups was done visually. Significance was based below 0.05., Results:  Screw fracture ( n = 7) and abutment bending at the apical part ( n = 7) occurred in the Ti group. In the one-piece zirconia group, screw and abutment fractures occurred in seven and seven cases, respectively. In the two-piece zirconia group, screw fracture ( n = 7) above the Ti zirconia junction (transgingival segment) and abutment fracture ( n = 7) were determined as the failure modes., Conclusion:  In conclusion, all abutments underwent failures under SL in vitro ; and the mode of failure modes varied among the different abutment designs used., Competing Interests: Fawaz Alqahtani designed and supervised the study and wrote the manuscript. Mohammed AlAmar performed the experiments and wrote the results. Mohammed AlAmar and Fawaz Alqahtani read and revised the manuscript prior to submission.None declared.

Background: Stereoelectroencephalography (SEEG) is an effective technique to help to locate and to delimit the epileptogenic area and/or to define relationships with functional cortical areas. We intend to describe the surgical technique and verify the accuracy, safety, and effectiveness of robot-assisted SEEG in a newly created SEEG program in a pediatric center. We focus on the technical difficulties encountered at the early stages of this program., Methods: We prospectively collected SEEG indication, intraoperative events, accuracy calculated by fusion of postoperative CT with preoperative planning, complications, and usefulness of SEEG in terms of answering preimplantation hypothesis., Results: Fourteen patients between the ages of 5 and 18 years old (mean 10 years) with drug-resistant epilepsy were operated on between April 2016 and April 2018. One hundred sixty-four electrodes were implanted in total. The median entry point localization error (EPLE) was 1.57 mm (1-2.25 mm) and the median target point localization error (TPLE) was 1.77 mm (1.2-2.6 mm). We recorded seven intraoperative technical issues. Two patients suffered complications: meningitis without demonstrated germ in one patient and a right frontal hematoma in the other. In all cases, the SEEG was useful for the therapeutic decision-making., Conclusion: SEEG has been useful for decision-making in all our pediatric patients. The robotic arm is an accurate tool for the insertion of the deep electrodes. Nevertheless, it is an invasive technique not risk-free and many problems can appear at the beginning of a robotic arm-assisted SEEG program that must be taken into account beforehand.

Objective: The purpose of this study was to verify the safety and accuracy of the Neuromate stereotactic robot for use in deep brain stimulation (DBS) electrode implantation for the treatment of hyperkinetic movement disorders in childhood and describe the authors' initial clinical results., Methods: A prospective evaluation of pediatric patients with dystonia and other hyperkinetic movement disorders was carried out during the 1st year after the start-up of a pediatric DBS unit in Barcelona. Electrodes were implanted bilaterally in the globus pallidus internus (GPi) using the Neuromate robot without the stereotactic frame. The authors calculated the distances between the electrodes and their respective planned trajectories, merging the postoperative CT with the preoperative plan using VoXim software. Clinical outcome was monitored using validated scales for dystonia and myoclonus preoperatively and at 1 month and 6 months postoperatively and by means of a quality-of-life questionnaire for children, administered before surgery and at 6 months' follow-up. We also recorded complications derived from the implantation technique, "hardware," and stimulation., Results: Six patients aged 7 to 16 years and diagnosed with isolated dystonia ( DYT1 negative) (3 patients), choreo-dystonia related to PDE2A mutation (1 patient), or myoclonus-dystonia syndrome SGCE mutations (2 patients) were evaluated during a period of 6 to 19 months. The average accuracy in the placement of the electrodes was 1.24 mm at the target point. At the 6-month follow-up, patients showed an improvement in the motor (65%) and functional (48%) components of the Burke-Fahn-Marsden Dystonia Rating Scale. Patients with myoclonus and SGCE mutations also showed an improvement in action myoclonus (95%-100%) and in functional tests (50%-75%) according to the Unified Motor-Rating Scale. The Neuro-QOL score revealed inconsistent results, with improvement in motor function and social relationships but worsening in anxiety, cognitive function, and pain. The only surgical complication was medial displacement of the first electrode, which limited intensity of stimulation in the lower contacts, in one case., Conclusions: The Neuromate stereotactic robot is an accurate and safe tool for the placement of GPi electrodes in children with hyperkinetic movement disorders.

The prevalence of arachnoid cysts in children is 1-3%. They are more frequent in boys. They can be located intracranially or in the spine. Intracranial cysts are classified as supratentorial, infratentorial, and supra-infratentorial (tentorial notch). Supratentorial are divided into middle cranial fossa, convexity, inter-hemisferic, sellar region, and intraventricular. Infratentorial are classified into supracerebellar, infracerebellar, hemispheric, clivus, and cerebellopontine angle. Finally spinal arachnoid cysts are classified taking into account whether they are extra- or intradural, and nerve root involvement., (Copyright © 2015 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.)

Background: fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. These syndromes share coronal craniosynostosis and characteristic facial skeletal features, although Apert syndrome (AS) is characterized by a more dysmorphic facial skeleton relative to Crouzon (CS), Muenke (MS), or Pfeiffer syndromes., Methods: Here we perform a detailed three-dimensional evaluation of facial skeletal shape in a retrospective sample of cases clinically and/or genetically diagnosed as AS, CS, MS, and Pfeiffer syndrome to quantify variation in facial dysmorphology, precisely identify specific facial features pertaining to these four syndromes, and further elucidate what knowledge of the causative FGFR mutation brings to our understanding of these syndromes., Results: Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF., Conclusion: Our quantitative analysis of facial phenotypes demonstrate subtle variation within and among craniosynostosis syndromes that might, with further research, provide information about the impact of the mutation on facial skeletal and nonskeletal development. We suggest that precise studies of the phenotypic consequences of genetic mutations at many levels of analysis should accompany next-generation genetic research and that these approaches should proceed cooperatively., (Copyright © 2014 Wiley Periodicals, Inc.)

Introduction: Tumours of the choroid plexus are uncommon, with a peak incidence in the early years of life. Clinically they usually produce intracranial hypertension. Histologically, they can be divided into papillomas and carcinomas. Metastasis rarely occurs in the case of papillomas., Case Report: An 11-year-old female with an intracranial lesion in the 4th ventricle and a sacral intradural lesion. A sub-occipital craniotomy with total resection of the ventricular lesion was performed and this was followed later by partial exeresis of the spinal lesion. The histological study provides the diagnosis of typical choroid plexus papilloma in the intracranial lesion and choroid plexus papilloma metastasis in the spinal lesion. A review of the literature showed that choroid plexus papillomas with metastatic lesions are very rarely found at the paediatric age. There is no general agreement on the treatment of plexus papilloma metastasis at the paediatric age, expectant management being adopted in two cases and surgical treatment involving a laminectomy in the other., Conclusions: Choroid plexus papillomas are rare, benign lesions with a good prognosis. Metastasis seldom exists. Preferred treatment is total resection of the lesion. For the treatment of metastases, there is no evidence as to which is the best approach and different alternatives have been suggested.

Background: The anterior sacral meningocele is a rare form of spinal dysraphism located in the presacral extraperitoneal space. It is generally asymptomatic and appears as a small pelvic mass., Case Description: We present a case of a 10 year-old male that develops a bacteria meningitis because of a pararectal abscess that is connected with an anterior sacral meningocele. We successfully treated it using a posterior approach., Conclusion: The aim of the surgery is to repair the dural defect and to obliterate the communication between the thecal sac and the herniation defect. The posterior approach is the simplest and most effective surgical technique because the lower risk of neurological injury than the anterior approach.

By looking through our cases and literature, an analysis of the surgical complications derived from direct cerebral stimulation under general anesthesia and local anesthesia and sedation was made. A retrospective descriptive study was performed including patients who were intervened in our centre from 2004 to 2008 and had the cortico-subcortical mapping technique. Common pre-operation variables were as follow: Age, sex, tumor localization and tumor's pathology; On patients intervened while awake, we collected the ASA, BMI and duration of the intervention. Afterwards, variable like epileptic attacks and cerebral edema were included in two groups. In addition, on those awake, respiratory and circulatory complications, local anesthesia toxicity, poor level of sedation, nausea and vomiting, pain and feeling uncomfortable with body posture were collected as well. A total of 20 patients had surgery. 10 of them were operated under local anesthesia and sedation with a mean age of 41 years, mean BMI of 26.8 and a pre-operatory ASA score of I or II ( except one patient with ASA III). The mean time duration of the surgical procedure was 5 hours and 20 minutes. On the other side, 10 patients were intervened with general anesthesia with a mean age of 55 years. There were no cases of cerebral edema in either group, although in 4 patients had epileptic attacks which resolved with cold saline irrigation. Five patients with local anesthesia and sedation did not have any complication, 2 patients showed desaturation episodes without further complications, three manifested hypertension episodes and two signs of feeling uncomfortable with body posture. None of the intra-operatory complications registered interfered wit the overall surgical procedure. This is a safe technique if performed following recommended indications and parameters. Regarding complications, respiratory complications are the most common and the most dangerous, as they can influence in the surgical procedure for difficult cases.

Introduction: Sinus pericranii is an unusual vascular anomaly characterised by communication between diploic and epicranial veins and a dural sinus. It is therefore an abnormal communication between the intracranial and extracranial circulatory systems., Case Report: We report a case of sinus pericranii in an 8-month-old boy, with typical clinical and radiological manifestations., Conclusions: Sinus pericranii is a rare condition in paediatric pathology, which is generally asymptomatic and is usually found in the area of the anterior fontanelle. The fundamental diagnostic method is magnetic resonance imaging of the brain with and without contrast; surgery is the preferred treatment, although rare cases of spontaneous thrombosis have been reported.

Unlabelled: There are various surgical approaches to treat Chiari I malformation. In spite of the good clinical results that are reported with most of them, there is still controversy about the optimal treatment of this pathology., Objective: To compare the clinical and radiological results of surgical treatment of the Chiari I malformation with suboccipital craniectomy, posterior arch of C1 resection with or without dural graft, analyzing clinical and radiological findings and describing the complications., Material and Methods: Retrospectively clinical cases series of patients who underwent Chiari I malformation surgery between 1998 and 2006 in the Hospital Germans Trias i Pujol in Badalona. The inclusion criteria consisted in: patients older than 18 years, who have had surgery in our hospital, detailed neurological examination before and after surgery (calculating the EDSS scale punctuation), craniospinal magnetic resonance imaging before and after surgery and minimal follow up period of 6 months. The election of the surgical approach was left to the discretion of the main surgeon. Patients were divided in two groups depending of the surgical technique: Group A (with dural graft) and Group B (without dural graft). To evaluate the morphological results in both groups, measurements of the position of the fastigium above a basal line in the midsagittal T1 weighted magnetic resonance images were obtained. In patients with syringomyelia, siringo-to-cord ratio was measured before and after surgery. To evaluate the clinical results, neurological examination was recorded in both groups before and after surgery., Results: The mean age of Group A patients was 47 (-/+12.89) years, and of Group B was 38.3 (-/+7.77) years. Mean follow up period was 2.48 (-/+2.44) years in Group A and 4.2 (-/+4.46) in Group B. Creation of an artificial cisterna magna was observed en 35.7% of Group A patients and only in 3.5% of Group B patients (p=0.022). In 8 patients front Group A, 8 patients (28.6%) an upward migration of the cerebellum was seen, whereas any of the Group B patients presented it (p=0.022) Siringo-to-cord ratios were decreased in both groups without significant differences. All of the Group A patients improved their clinical exploration. In Group B, 60% of the patients improved and the 40% left maintained clinical stability. Any patient worsened. All patients that maintained clinical stability belonged to Group B, the differences between the two groups were statistically significant (p=0.04). Five patients presented immediate surgical complications (2 pseudomeningoceles, 2 meningitis and 1 hydrocephalus). All this patients where operated with dural graft (p=0.049)., Conclusions: According to our study, suboccipital craniectomy with resection of the posterior arch of C1 and dural graft shows better clinical and radiological results than without dural graft. Nevertheless this technique can increase the incidence of surgical complications.

Objective: To analyze cervical discectomy complications with anterior approach., Material and Methods: Retrospectively clinical cases series of 193 patients, between December 1989 to December 2004, in the Hospital Germans Trias i Pujol in Badalona. We analyzed complications arisen with cervical anterior approach and its relation with differents procedures. Demographic variables (age, sex), clinical variables (onset symptoms, cervical pathology cause, complication type, and duration time) and surgical variables (operated levels number, procedure, graft used) were analyzed. We made a statistical analysis with multivariant analysis, T-Student test and Chi-square test to analyze the relation between the complications and different studied variables., Results: We found complications in 50 patients (25.91%). Most frequent has been dysphagia, present in 15 patients. Most of them appear with transitory form (13 patients) and in very few occasions permanent form (2 patients). T-Student test in statistical analysis showed no statistically significant differences (p=0.431) between the ages and complications, and were not statistically significant differences, used Chi-square test, in sex (p=0.515), in onset symptoms (p=0.923), in pathology origin (p=0.364), in a procedure(p=0.295), and graft used (p=0.382). We found statistically significant differences in operated levels number (p=0.018) with a ratio for the advantages (single /multiple) of 2.221. Multivariant analysis with linear regression model considering age, sex and operated levels number, showed that persistist the risk of complications in operated number levels, independently of the age or sex, being the multiple spaces a 117.3% more frequent than the single space (OR 2.173; IC95% 1.104-4.279)., Conclusions: 1. Cervical anterior approach, is a simple technique, and safe surgically procedure with under number of complications. 2. Dysphagia is most frequent complication, but it is inherent to the procedure and it is solved without treatment in most ocasions. 3. Have been many the procedures used for the cervical spine fixation, with more than 40 years of experience, and still it is to define as he is the best one. It would be necessary more studies of prospective multicentric character to be able to compare clinical, radiological results, and the presence of complications.

The effects of L-canavanine and cadmium on the ribonucleoprotein constituents of HeLa S3 cells have been analyzed. Both chemicals induce a similar pattern of alterations in different RNP structures as well as in both RNA and protein synthesis. Pulse and chase autoradiographic experiments reveal that both canavanine and cadmium induce a preferential inhibition of nucleolar RNA synthesis and a slowdown in the transport or processing of nucleolar and extranucleolar RNA. Nucleoli become round and compact. Accumulation of perichromatin granules and fibrils occurs, there is a depletion of interchromatin fibrils, and nuclear formations appear which seem to be involved in the morphogenesis of perichromatin granules accumulated during the treatments. The appearance of clusters of 29- to 35-nm granules might be related with a deficient assembling of constituents of perichromatin granules. The effects of different inhibitors of the transcriptional processes on the accumulation of perichromatin granules suggest that these granules represent a particular subpopulation of hnRNP.