The Ipsilateral Interhemispheric Transprecuneal Approach to the Atrium: Technical Considerations and Clinical Outcome on a Series of 7 Patients

Surgical removal of tumors of the atrium is challenging due to their deep location, vascularization, and to their complex three-dimensional relationships with the highly functional white matter fibers of the region. To assess the feasibility and the effectiveness of the ipsilateral interhemispheric transprecuneus approach (IITA) for tumors involving the atrium and the posterior third of the temporal horn, a retrospective chart review of all patients who had undergone a surgical treatment for intraventricular tumors between January 2008 and January 2017 was performed, and the step-by-step approach is described. Ten patients affected by lesions of the atrium of the lateral ventricle underwent surgical treatment, seven of which were approached through the IITA. The mean age was 42.8 years (range 6-63 years). The symptoms presented included severe, drug-resistant headache (90%), lateral homonymous hemianopsia (50%), seizures (30%), and speech disturbances (30%). Histological examinations revealed seven patients with meningioma (70%), one with a metastasis (10%), one with a choroid plexus papilloma (10%) and one with a cavernoma (10%). In all cases, a gross total removal was obtained. All patients had a significant improvement in their headache. Two patients experienced a worsening of the pre-operative visual disturbances, while two patients had a significant improvement. No patients without pre-operative visual disturbances described a post-operative worsening of visual symptoms. The IITA represents a feasible approach for tumors of the atrium. The three-quarter prone position facilitates the enlargement of the interhemispheric fissure by increasing the working angle and facilitating the exposure of the lateral wall of the atrium

Mitaí Taí Porá – Niños con Dientes Lindos

La ciudad de Ituzaingó se encuentra al noreste de la provincia de Corrientes. Caracterizan a la región, situaciones climáticas adversas, la falta de desarrollo económico, extensas zonas rurales empobrecidas, proliferación de asentamientos marginales periurbanos. Los índices de personas que subsisten por debajo de la línea de pobreza va en aumento, como así también los de indigencia total. Las patologías prevalentes que afectan a la salud en general, se pueden citar el dengue, fiebre amarilla y leishmaniasis, propias de regiones húmedas tropicales y subtropicales,- microclima derivado de la construcción de la represa Yaciretá – En cuanto a la salud bucal el 67 % de los niños de 8 años no tienen experiencia odontológica. Promedio de 4.5 dientes cariados a los 8 años, 6.4 dientes permanentes cariados a los 14 años.  El 80 % de las embarazadas no asisten al control periódico odontológico. Los indicadores de los servicios de salud demuestran que la atención es estrictamente asistencialista, con enfoque curativo de la enfermedad. La falta de acceso de las familias  a la atención de salud es enorme. En espacios comunitarios, como por ejemplo los comedores; se  puede proveer beneficios a todos los niveles de la sociedad, a las personas, la familia, la escuela, y a la comunidad, asociadas con prácticas saludables, y  crear espacios de autorresponsabilidad y autodeterminación. Para lograr revertir dicha realidad se han realizado talleres: dirigidos al  fortalecimiento de actividades grupales y comunitarias; de Capacitación sobre alimentación, nutrición e higiene de los alimentos; de Motivación a las familias  sobre cuidados de la  salud en general y oral en particular. Realización de tratamientos odontológicos preventivos y  prácticas odontológicas atraumáticas – PRAT- con posteriores Evaluaciones de Procesos a fin de verificar  el cumplimiento de  los objetivos. Las prácticas de elección, sustentadas en la Atención Primaria de la Salud, son la promoción de la salud, la educación y el rápido tratamiento, a fin de mejorar el componente bucal de la salud de la población. A través de estas actividades se pretende, suscitar cambios en el ejercicio de la profesión odontológica, aplicando modelos de atención más eficientes. La docencia en servicio, articulada a la extensión universitaria, permite recuperar en las aulas la realidad social, y a través de propuestas innovadoras,  lograr perfiles profesionales   que puedan dar respuestas a las necesidades emergentes de la sociedad.      

The impact of COVID-19 pandemic on surgical neuro-oncology: A survey from the Italian society of neurosurgery (SINch)

Background: The COVID-19 pandemic and its impact on hospitals' activity and organization has imposed a vast change in standard neurosurgical oncology practice to accommodate for shifting resources. Aims: This investigation aims to analyse the nationwide capability in reorganizing the surgical neuro-oncological activity during the COVID-19 pandemic to evaluate whether COVID-19-pandemic influenced the surgical management in these patients. Method: A web-based dataset model organized by the Italian Neurosurgical Society (SINCh) was sent to all the Italian neurosurgical departments in May 2021, requesting to report the types and numbers of surgical procedures performed in the pre-pandemic period (from March 9th 2019 to March 9th 2020) compared to the pandemic period (from March 10th 2020 to March 10th 2021). Results: This multicentre investigation included the surgical activity of 35 Italian Neurosurgical Departments in a pre-pandemic year versus a pandemic year. During the COVID period, 699 fewer neuro-oncological patients were operated on than in the pre-COVID period. We noted a slight increase in urgency and a more severe decrease in elective and benign pathology. None of these differences was statistically significant. Surgically treated patients who tested positive for SARS-CoV-2 were 36, of which 11 died. Death was found to be COVID-related only in 2 cases. Conclusion: The reorganization of the Italian Neurosurgical Departments was able to guarantee a redistribution of the CNS tumors during the inter-pandemic periods, demonstrating that patients even in the pandemic era could be treated without compromising the efficacy and safety of the surgical procedure

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

Background: Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNALys gene at position m.8344A > G. Defective tRNALys severely impairs mitochondrial protein synthesis and respiratory chain when a high percentage of mutant heteroplasmy crosses the threshold for full-blown clinical phenotype. Therapy is currently lim- ited to symptomatic management of myoclonic epilepsy, and supportive measures to counteract muscle weakness with co-factors/supplements. Methods: We tested two therapeutic strategies to rescue mitochondrial function in cybrids and fibroblasts carry- ing different loads of the m.8344A > G mutation. The first strategy was aimed at inducing mitochondrial biogenesis directly, over-expressing the master regulator PGC-1α, or indirectly, through the treatment with nicotinic acid, a NAD+ precursor. The second was aimed at stimulating the removal of damaged mitochondria through prolonged rapamy- cin treatment. Results: The first approach slightly increased mitochondrial protein expression and respiration in the wild type and intermediate-mutation load cells, but was ineffective in high-mutation load cell lines. This suggests that induction of mitochondrial biogenesis may not be sufficient to rescue mitochondrial dysfunction in MERRF cells with high-muta- tion load. The second approach, when administered chronically (4 weeks), induced a slight increase of mitochondrial respiration in fibroblasts with high-mutation load, and a significant improvement in fibroblasts with intermediate- mutation load, rescuing completely the bioenergetics defect. This effect was mediated by increased mitochondrial biogenesis, possibly related to the rapamycin-induced inhibition of the Mechanistic Target of Rapamycin Complex 1 (mTORC1) and the consequent activation of the Transcription Factor EB (TFEB). Conclusions: Overall, our results point to rapamycin-based therapy as a promising therapeutic option for MERRF

Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014

The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear. We tested the burden and the possible sex-biased effect of CNVs at 16p13.11 in a sample of 10,397 individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH); cases were compared with 11,277 controls. In order to identify candidate phenotype-associated genes, we performed an interval-based analysis and investigated the presence of ohnologs at 16p13.11; finally, we searched the DECIPHER database for previously identified 16p13.11 copy number variants. In the clinical referral series, we identified 46 cases with CNVs of variable size at 16p13.11, including 28 duplications and 18 deletions. Patients were referred for various phenotypes, including developmental delay, autism, speech delay, learning difficulties, behavioural problems, epilepsy, microcephaly and physical dysmorphisms. CNVs at 16p13.11 were also present in 17 controls. Association analysis revealed an excess of CNVs in cases compared with controls (OR = 2.59; p = 0.0005), and a sex-biased effect, with a significant enrichment of CNVs only in the male subgroup of cases (OR = 5.62; p = 0.0002), but not in females (OR = 1.19, p = 0.673). The same pattern of results was also observed in the DECIPHER sample. Interval-based analysis showed a significant enrichment of case CNVs containing interval II (OR = 2.59; p = 0.0005), located in the 0.83 Mb genomic region between 15.49-16.32 Mb, and encompassing the four ohnologs NDE1, MYH11, ABCC1 and ABCC6. Our data confirm that duplications and deletions at 16p13.11 represent incompletely penetrant pathogenic mutations that predispose to a range of neurodevelopmental disorders, and suggest a sex-limited effect on the penetrance of the pathological phenotypes at the 16p13.11 locus.South London and Maudsley Trust NIHR specialist Biomedical Research Centre Guys and St Thomas Trust NIHR comprehensive Biomedical Research Centre European Commission Seventh Framework project PsychCNVs info:eu-repo/grantAgreement/EC/FP7/223423 Wellcome Trust (Wellcome Trust Case control consortium; WTCCC2

PRENOLIN project. Results of the validation phase at sendai site

One of the objectives of the PRENOLIN project is the assessment of uncertainties associated with non-linear simulation of 1D site effects. An international benchmark is underway to test several numerical codes, including various non-linear soil constitutive models, to compute the non-linear seismic site response. The preliminary verification phase (i.e. comparison between numerical codes on simple, idealistic cases) is now followed by the validation phase, which compares predictions of such numerical estimations with actual strong motion data recorded from well-known sites. The benchmark presently involves 21 teams and 21 different non-linear computations. Extensive site characterization was performed at three sites of the Japanese KiK-net and PARI networks. This paper focuses on SENDAI site. The first results indicate that a careful analysis of the data for the lab measurement is required. The linear site response is overestimated while the non-linear effects are underestimated in the first iteration. According to these observations, a first set of recommendations for defining the non-linear soil parameters from lab measurements is proposed. PRENOLIN is part of two larger projects: SINAPS@, funded by the ANR (French National Research Agency) and SIGMA, funded by a consortium of nuclear operators (EDF, CEA, AREVA, ENL)

Earthquake Geotechnical Engineering Aspects of the 2012 Emilia-Romagna Earthquake (Italy)

On May 20, 2012 an earthquake of magnitude ML=5.9 struck the Emilia Romagna Region of Italy and a little portion of Lombardia Region. Successive earthquakes occurred on May 29, 2012 with ML=5.8 and ML=5.3. The earthquakes caused 27 deaths, of which 13 on industrial buildings. The damage was considerable. 12,000 buildings were severely damaged; big damages occurred also to monuments and cultural heritage of Italy, causing the collapse of 147 campaniles. The damage is estimated in about 5-6 billions of euro. To the damage caused to people and buildings, must be summed the indirect damage due to loss of industrial production and to the impossibility to operate for several months. The indirect damage could be bigger than the direct damage caused by the earthquake. The resilience of the damaged cities to the damage to the industrial buildings and the lifelines was good enough, because some industries built a smart campus to start again to operate in less of one month and structural and geotechnical guidelines were edited to start with the recovering the damage industrial buildings. In the paper a damage survey is presented and linked with the ground effects. Among these, soil amplification and liquefaction phenomena are analyzed, basing on the soil properties evaluation by field and laboratory tests. Particular emphasis is devoted to the damaged suffered by the industrial buildings and to the aspects of the remedial work linked with the shallow foundation inadequacy and to the liquefaction mitigation effects

Anastomosis configuration and technique following ileocaecal resection for Crohn's disease: a multicentre study

A limited ileocaecal resection is the most frequently performed procedure for ileocaecal CD and different anastomotic configurations and techniques have been described. This manuscript audited the different anastomotic techniques used in a national study and evaluated their influence on postoperative outcomes following ileocaecal resection for primary CD. This is a retrospective, multicentre, observational study promoted by the Italian Society of Colorectal Surgery (SICCR), including all adults undergoing elective ileocaecal resection for primary CD from June 2018 May 2019. Postoperative morbidity within 30 days of surgery was the primary endpoint. Postoperative length of hospital stay (LOS) and anastomotic leak rate were the secondary outcomes. 427 patients were included. The side to side anastomosis was the chosen configuration in 380 patients (89%). The stapled anastomotic (n = 286; 67%), techniques were preferred to hand-sewn (n = 141; 33%). Postoperative morbidity was 20.3% and anastomotic leak 3.7%. Anastomotic leak was independent of the type of anastomosis performed, while was associated with an ASA grade ≥ 3, presence of perianal disease and ileocolonic localization of disease. Four predictors of LOS were identified after multivariate analysis. The laparoscopic approach was the only associated with a reduced LOS (p = 0.017), while age, ASA grade ≥ 3 or administration of preoperative TPN were associated with increased LOS. The side to side was the most commonly used anastomotic configuration for ileocolic reconstruction following primary CD resection. There was no difference in postoperative morbidity according to anastomotic technique and configuration. Anastomotic leak was associated with ASA grade ≥ 3, a penetrating phenotype of disease and ileo-colonic distribution of CD