Primary Coenzyme Q10 Deficiency

open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. DIAGNOSIS/TESTING: The diagnosis of primary CoQ10 deficiency in a proband is established by identification of biallelic pathogenic variants in one of the nine genes encoding proteins directly involved in the synthesis of coenzyme Q10 or by detection of reduced levels of CoQ10 (ubiquinone) in skeletal muscle or reduced activities of complex I+III and II+III of the mitochondrial respiratory chain on frozen muscle homogenates. MANAGEMENT: Treatment of manifestations: In individuals with primary CoQ10 deficiency early treatment with high-dose oral CoQ10 supplementation (ranging from 5 to 50 mg/kg/day) can limit disease progression and reverse some manifestations; however, established severe neurologic and/or renal damage cannot be reversed. ACE inhibitors may be used in combination with CoQ10 supplementation in persons with proteinuria; renal transplantation is an option for those with ESRD. Treatment of hypertrophic cardiomyopathy, retinopathy, and sensorineural hearing loss is per usual practice. Prevention of primary manifestations: Supplementation with high-dose oral CoQ10 can prevent progression of the renal disease and onset of neurologic manifestations. Surveillance: Periodic neurologic evaluation, urine analysis (for proteinuria) and renal function tests, ophthalmologic evaluation, and audiometry. Evaluation of relatives at risk: Presymptomatic diagnosis for the purpose of early treatment with CoQ10 supplementation is warranted for relatives at risk. GENETIC COUNSELING: Primary coenzyme Q10 deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic diagnosis are possible if the pathogenic variants in a family are known.openSalviati, L; Trevisson, E; Doimo, M; Navas, PSalviati, Leonardo; Trevisson, Eva; Doimo, Mara; Navas, P

MPPT algorithms based on artificial neural networks for PV system under partial shading condition

I pannelli fotovoltaici in condizione di parziale ombreggiatura presentano delle difficoltà nell'insgeguimento del punto di massima potenza MPP. A tal fine sono stati implementati due algoritmi basati su una rete neurale artificiale FeedForward. Gli algoritmi sono stati testati con Simulink, ed è stata verificata la caratteristica attesa da questi algoritmi: sono molto veloci nell'inseguimento del MPP. Questo comporta una maggiore efficienza finale.openEmbargo temporaneo per motivi editorial

On the invisibility and impact of Robert Hooke’s theory of gravitation

Robert Hooke\u2019s theory of gravitation is a promising case study for probing the fruitfulness of Menachem Fisch\u2019s insistence on the centrality of trading zone mediators for rational change in the history of science and mathematics. In 1679, Hooke proposed an innovative explanation of planetary motions to Newton\u2019s attention. Until the correspondence with Hooke, Newton had embraced planetary models, whereby planets move around the Sun because of the action of an ether filling the interplanetary space. Hooke\u2019s model, instead, consisted in the idea that planets move in the void space under the influence of a gravitational attraction directed toward the sun. There is no doubt that the correspondence with Hooke allowed Newton to conceive a new explanation for planetary motions. This explanation was proposed by Hooke as a hypothesis that needed mathematical development and experimental confirmation. Hooke formulated his new model in a mathematical language which overlapped but not coincided with Newton\u2019s who developed Hooke\u2019s hypothetical model into the theory of universal gravitation as published in the Mathematical Principles of Natural Philosophy (1687). The nature of Hooke\u2019s contributions to mathematized natural philosophy, however, was contested during his own lifetime and gave rise to negative evaluations until the last century. Hooke has been often contrasted to Newton as a practitioner rather than as a \u201cscientist\u201d and unfavorably compared to the eminent Lucasian Professor. Hooke\u2019s correspondence with Newton seems to me an example of the phenomenon, discussed by Fisch in his philosophical works, of the invisibility in official historiography of \u201ctrading zone mediators,\u201d namely, of those actors that play a role, crucial but not easily recognized, in promoting rational scientific framework change

Evaluation and Quality Assurance of teaching: the Evaluation Board in the AVA Process

Abstract In this article, we introduce the Evaluation Board (EB-NdV) task in the AVA system (Accreditamento, Valutazione e Auto-valutazione). The AVA was implemented in 2013 in the Italian University System according to the document called "European Standards and Guidelines for Quality Assurance in the European Higher Education Area (ESG)". The ENQA's guidelines (2005) provide for the construction of a common European area dedicated to university and post-university. In the University, the three main actors involved in the Quality Assurance (QA) system are the Evaluation Board (Nucleo di Valutazione, EB-NdV), the University Quality Board (PQ) and the Joint Student-Teacher Commission (CP). The EB-NdV has documented functions of evaluation and monitoring of the QA system, designed by the PQ following the strategic guidelines of the governing bodies of the university institution. The EB-NdV works as Independent Assessment Body (OIV) too. This task regards the assessment procedures concerning structures and human resources dedicated to the administrative support of the core activities of the universities. The EB-NdV draws up an Annual Report related to the AVA system. In conclusion the EB-NdV evaluates the QA system of the University in its entirety and in all its aspects. Moreover, the EB-NdV evaluates the relationships between the University Quality Board and the Joint Student-Teacher Commission (CP)

Impactos do Programa Bolsa Floresta: uma avaliação preliminar (Cadernos de Sustentabilidade)

Este estudo trata do Programa Bolsa Floresta (PBF), um dos maiores programas de Pagamento por Serviços Ambientais (PSA) do mundo, com mais de 35 mil pessoas atendidas em 15 Unidades de Conservação Estaduais (UCs) do Amazonas. Seus objetivos visam: melhorar a qualidade de vida das populações tradicionais e promover a manutenção dos serviços ambientais providos pelas florestas, por meio do não desmatamento e degradação florestal

Competences of the administrator’s graduate profile in a global context, a review of the literature: Competencias del perfil de egreso del administrador en un contexto global, una revisión de la literatura

In an increasingly integrated and challenging world, companies require administrators whoare able to cope with a globalized and highly competitive business environment. In thatsense, the objective of the research is to establish the competences of the administrator’sgraduate profile to perform in a global context. To this aim, a qualitative design researchof documentary type was developed, using as a source of information scientific papersindexed in the Google Academic database. An important finding is that genericcompetences such as teamwork, strategic leadership, adaptation to change, technologymanagement and ability to interact in multicultural environments, among others, are morevalued by employers than specific competences.En el marco de un mundo cada vez más integrado y de grandes desafíos, las empresasrequieren de administradores que sean capaces de hacer frente a un entorno empresarialglobalizado y altamente competitivo. En ese sentido, el objetivo de la investigación esestablecer las competencias del perfil de egreso del administrador para desempeñarseen un contexto global. Para ello se desarrolló una investigación de diseño cualitativo detipo documental, utilizando como fuente de información artículos científicos indexados enla base de datos Google Académico. Un hallazgo importante es que las competenciasgenéricas como trabajo en equipo, liderazgo estratégico, adaptación al cambio, manejode la tecnología y habilidad de interacción en entornos multiculturales, entre otras, sonmás valoradas por los empleadores que las competencias específicas

Dissociative symptoms in female patients with mood and anxiety disorders: a psychopathological and temperamental investigation.

Abstract OBJECTIVE: Dissociative symptoms are frequent among psychiatric patients and may considerably affect patients' psychopathological condition and treatment outcomes. The objectives of the study are to assess the presence of dissociative symptoms in female patients with mood and anxiety disorders, to investigate their correlation with the clinical severity of the disorders and to investigate those personality traits that are more frequent in patients with high levels of dissociation. PATIENTS AND METHODS: 50 Caucasian females were enrolled in the study. Patients were assessed through the Self-Report Symptom Check-List, the Dissociative Experiences Scale (DES) and rating scales for Depression and Anxiety. RESULTS: The mean DES score in the overall sample was 16.6. 32% of patients had a DES score > 20. Depressive symptoms positively correlated with the DES total scores. Dissociator patients presented some significantly different temperamental characteristics in comparison with non dissociator patients. CONCLUSIONS: Dissociative symptoms are highly present in patients with mood and anxiety disorders and correlate with the severity of depressive symptoms. Specific personality traits more frequently observed in dissociator people may represent predisposing factors; their early identification could be clinically relevant

Calcium-gated calcium channels in sarcoplasmic reticulum of rabbit skinned skeletal muscle fibers

The action of ruthenium red (RR) on Ca2+ loading by and Ca2+ release from the sarcoplasmic reticulum (SR) of chemically skinned skeletal muscle fibers of the rabbit was investigated. Ca2+ loading, in the presence of the precipitating anion pyrophosphate, was monitored by a light-scattering method. Ca2+ release was indirectly measured by following tension development evoked by caffeine. Stimulation of the Ca2+ loading rate by 5 microM RR was dependent on free Ca2+, being maximal at pCa 5.56. Isometric force development induced by 5 mM caffeine was reversibly antagonized by RR. IC50 for the rate of tension rise was 0.5 microM; that for the extent of tension was 4 microM. RR slightly shifted the steady state isometric force/pCa curve toward lower pCa values. At 5 microM RR, the pCa required for half-maximal force was 0.2 log units lower than that of the control, and maximal force was depressed by approximately 16%. These results suggest that RR inhibited Ca2+ release from the SR and stimulated Ca2+ loading into the SR by closing Ca2+-gated Ca2+ channels. Previous studies on isolated SR have indicated the selective presence of such channels in junctional terminal cisternae

Capgras-like syndrome in a patient with an acute urinary tract infection.

Delusional misidentification syndromes are a group of delusional phenomena in which patients misidentify familiar persons, objects, or themselves, believing that they have been replaced or transformed. In 25%-40% of cases, misidentification syndromes have been reported in association with organic illness. We report an acute episode of Capgras-like delusion lasting 8 days, focused on the idea that people were robots with human bodies, in association with an acute urinary infection. To our knowledge, this is the first case report associating urinary tract infection with Capgras-like syndrome. Awareness of the prevalence of delusional misidentification syndromes associated with acute medical illness should promote diligence on the part of clinicians in recognizing this disorder

Cathodoluminescence Study of Defects in III-V Substrates and Structures

Solid state detector cathodoluminescence studies of semiconducting and semi-insulating GaAs and InP crystals, were performed. The origin of the dislocation contrast in GaAs:Si doped substrates, in the carrier concentration range from 1016 to 6 · 1018 cm-3, were discussed. The image contrast was explained on the basis of the emission efficiency versus carrier concentration curve, obtained in the transmission mode. Single dislocations and dislocation arrangements in addition to growth striations, clusters and precipitate-like microdefects were evidenced. The above mentioned microdefects were detected in GaAs: Te, S and Si doped and InP: Sn doped specimens. Commercial InP:Sn and S doped crystals by different manufacturers were also tested in order to perform a comprehensive evaluation of the defect content. Finally, combining emission and transmission cathodoluminescence, Si and Ge detectors at different beam energies, the defect distribution of different layers in simple and double heterostructures was determined in a non-destructive way. MBE InGaAs/InP and LPE InGaAsP/InP structures, employed as semiconductor detectors and lasers, were investigated