Early intervention in preterm babies: development and experimental trial of an aesy and low cost program.

La prematurità rappresenta oggi un problema sempre più importante per la salute pubblica. Lo scopo della ricerca di questo settore è di individuare precocemente i soggetti altamente a rischio e i soggetti che potrebbero essere in grado di avere un outcome positivo, al fine di evitare follow-up superflui. I progressi continui nelle tecniche ostetriche e nell'assistenza intensiva e neonatale aumentano la quota dei bambini che sopravvivono alla nascita pretermine senza gravi danni cerebrali, tuttavia la strategia più promettente per promuovere il loro potenziale di crescita sembra agire sul loro ambiente, con un programma di intervento precoce. Definizione di un protocollo di intervento precoce e studio sperimentale per valutarne la fattibilità, applicabilità ed efficacia. Si tratta di uno studio randomizzato in singolo cieco (l'analisi dei dati è stata fatta in cieco) che ha coinvolto 42 neonati prematuri ad alto rischio e le loro madri divisi in due gruppi di uguali dimensioni e reclutati a caso (ogni bambino è stato assegnato in precedenza a uno dei gruppi, secondo l'ordine di nascita). Criteri di inclusione per lo studio: età gestazionale ≤32 settimane e/o peso alla nascita ≤1500 g; Madri con una buona conoscenza dell'italiano parlato e scritto; Consenso informato scritto. Per entrambi i gruppi erano previsti quattro punti di controllo: al reclutamento, alla dimissione ospedaliera, a 40 settimane di età gestazionale, a 3 mesi di età corretta. Per i neonati: ad ogni check-point sono stati eseguiti esame neurologico, videoregistrazione dei General movements, esame comportamentale da parte del TNPEE, e alla dimissione ospedaliera e 40 settimane di età gestazionale anche a Neonatal Intensive Care Network Neurobehavioral Scale (NNNS) sottoscala Attenzione (orientamento), Scala senso-motoria per il neonato e la videoregistrazione secondo il protocollo Global Rating Scale (GRS). Per le madri: al reclutamento è stato proposto un diario quotidiano per annotare la presenza in NICU/ la durata/eventuale terapia Kangoroo (SCENE); alla dimissione sono stati discussi alcuni suggerimenti di "cura" con il TNPEE ed è stato consegnato un libretto informativo riguardante le caratteristiche e lo sviluppo dei neonati pretermine. Sono stati inoltre consegnati il PSS-NICU, la scala EPDS, la scala MSPSS, il questionario NPST; A 40 settimane di età gestazionale è stata data la scala MPAS e il questionario PSI; A 3 mesi di età corretta un questionario sugli eventi stressanti, il PSI, l'EPSD, il MSPSS. Solo per il gruppo sperimentale (Early Intervention Protocol): dal reclutamento all'uscita ospedaliera sono stati proposti 2 incontri con un piccolo gruppo di madri, un neuropsichiatra infantile ed un TNPEE per descrivere alcune caratteristiche tipiche dei neonati pretermine, alcune esigenze particolari nelle abitudini di cura e parlare di prematurità; dal reclutamento alla dimissione 3 incontri individuali con ciascuna madre e il TNPEE alla culla per osservare insieme quel singolo bambino; A 40 settimane e a 3 mesi di età corretta è stato effettuato un colloquio con ciascuna madre, il neuropsichiatra infantile e il TNPEE per valutare i cambiamenti nel bambino e nell'atteggiamento della madre. Analisi statistica (statistica descrittiva, T test, analisi K, analisi fattoriale, coefficiente alfa di Cronbach, coefficiente di correlazione Pearson, ANOVA) dei risultati. Studio condotto in collaborazione tra Unità Neurologica e Psichiatrica Infantile, C. Mondino IRCCS Istituto Neurologico Nazionale di Pavia, NICU della Fondazione IRCCS Policlinico San Matteo di Pavia e Unità di Sviluppo del Bambino 0-3 anni, IRCCS Nostra Famiglia Eugenio Medea Istituto Bosisio Parini. Abbiamo arruolato e valutato fino a 3 mesi di età corretta (fine del progetto) 42 bambini (21 nel gruppo sperimentale e 21 nel gruppo di controllo); 29 soggetti non hanno fornito il consenso allo studio e 71 non sono stati arruolati per motivi diversi.Prematurity represent today a more and more increasing problem for public health. The aim of researching this field is to detect as early as possible altogether subjects highly prone to risk and subjects associated with selective weaknesses (which occasionally can be supported with essential actions), and subjects who are likely to be able to build up an appropriate outcome (in order to avoid useless recurrent checkups). Continuous advances in obstetric techniques and intensive e neonatal care increase the share of children surviving preterm birth without serious cerebral damages, however the most promising strategy available to compensate their weaknesses and to promote their growth potential seems to be to act to their environment, setting up for them an early intervention. Definition of a protocol of Early Intervention and planning of a trial study to evaluate his feasibility, applicability and efficacy. This is a single-blind randomized study (data analyzer were blind), that involved 42 high risk preterm babies and their mothers divided in two groups of equal size and recruited randomly (each baby have been pre assigned to one of the groups, according to birth order). Inclusion criteria for the study: gestational age ≤32 weeks and/or birth weight ≤1500 g; mothers with a good knowledge of spoken and written Italian; written informed consent. For both groups are planned four check-points: at recruiting, at hospital discharge, at 40 weeks of gestational age, at 3 months of correct age. For babies: at each check-point were done Neurological examination, General Movements videotaping, Behavioural examination by the neurodevelopmental therapist, and at hospital discharge and 40 weeks of GA also to Neonatal Intensive Care Unit Network Neurobehavioral Scale (NNNS) Attention (Orientation) subscale, Sensory-motor scale for the neonate and Global Ratings of Mother Infant Interaction Scale (GRS). For mothers: at recruiting was proposed a daily diary to note the presence in NICU/duration/kangaroo therapy (SCENE); at hospital discharge were discussed some “care” suggestions from the neurodevelopmental therapist, and delivery of an information booklets regarding characteristics and development of preterm babies. It has also be proposed PSS-NICU, the EPDS, the MSPSS, the NPST; at 40 weeks of gestational age has been proposed the MPAS and the PSI; at 3 months of correct age the Life events form, the PSI, the EPSD, the MSPSS. Only for the experimental group (Early Intervention Protocol): from recruiting to hospital discharge were proposed 2 meetings with a small group of mothers, a paediatric neuropsychiatrist and a neurodevelopmental therapist to describe some typical characteristic of preterm babies, some special needs in care habits and to talk about prematurity; from recruiting to hospital discharge 3 individual meetings with each mother and the neurodevelopmental therapist at baby’s cradle to observe together that single baby; at 40 weeks and at 3 months of correct age one individual meeting with each mother, the paediatric neuropsychiatrist and the neurodevelopmental therapist, was carried out to evaluate the changes in the baby and in the mother’s attitude. Statistical analysis (descriptive statistic, T test, K analysis, Factorial analysis, Cronbach's alpha coefficient, Pearson’s correlation coefficient, ANOVA) of results. Study done in collaboration between Child Neurology and Psychiatry Unit, C. Mondino IRCCS National Neurological Institute of Pavia, NICU of the Foundation IRCCS Policlinico San Matteo of Pavia, Molecular Medicine Department of the University of Pavia and 0-3 Child Development Unit, IRCCS Nostra Famiglia Eugenio Medea Institute Bosisio Parini. We enrolled and evaluated until 3 months of correct age (end of the project) 42 babies (21 in the experimental group and 21 in the control group); 29 subjects didn't consent to the study and 71 weren't enrollable for different reasons

Differences between centers in functional outcome of patients with ADHD after 1 year from the time of diagnosis

Although the pharmacological therapy of ADHD has been widely studied, little has been done to compare the different therapeutic approaches (e.g., drug therapy vs. psychological treatments) and even less has been done to compare the outcome of the therapy between centers. This multicenter observational study aims to assess between-center variation in functional outcome of ADHD patients one year after the diagnosis, according to the treatment received. We used the Regional ADHD Registry data on 1429 patients enrolled in 16 ADHD centers in the 2011-2022 period. To evaluate the effectiveness of the therapy we used a generalized linear mixed model with the center as the random effect, including patient condition at diagnosis and center characteristics, weighting by the inverse of the propensity score of the treatment received by the patient. Between-center variation was expressed as the relative difference in odds-ratios between the observed and the expected number of patients whose condition improved, using the Clinical Global Impressions-Improvement Scale (CGI-I), and the relative 95% CI. Patients who received combined treatment were significantly more likely to improve compared to other treatment groups (65.5% vs 54.4% for methylphenidate alone, 53.4% for psychological treatment alone, or 40.5% for no therapy). Adjusted for patients and center characteristics, the log-odds ratio ranged from 0.85 (0.29-1.55 95% CI) to -0.64 (-1.17-0.18 95% CI). The mean expected probability of improvement after one year of therapy for an average patient with ADHD for each center was 47.7% in a center at the 25th percentile and 61.2% in a center at the 75th percentile of the outcome distribution after adjustments. The wide between-center variation in patient functional improvement one year after the diagnosis of ADHD could be largely explained by center-specific therapeutic approaches or attitudes. More careful and stringent work is needed to reduce differences in responses between centers, as could formal and periodic audit programs within and between centers

Analysis of gene expression data from Massive Parallel Sequencing identifies so far uncharacterised regulators for meiosis with one candidate being fundamental for prophase I in male and female meiosis

Meiosis is a specialized division of germ cells in sexually reproducing organisms, which is a fundamental process with key implications for evolution and biodiversity. In two consecutive rounds of cell division, meiosis I and meiosis II, a normal, diploid set of chromosome is halved. From diploid mother cells haploid gametes are generated to create genetic individual cells. This genetic uniqueness is obtained during prophase of meiosis I by essential meiotic processes in meiotic recombination, as double strand break (DSB) formation and repair, formation of crossovers (CO) and holiday junctions (HJs). Checkpoint mechanisms ensure a smooth progress of these events. Despite extensive research key mechanisms are still not understood. Based on an analysis of Massive Parallel Sequencing (MPS) data I could identify 2 genes, Mcmdc2 and Prr19, with high implication in meiotic recombination. In the absence of Mcmdc2 both sexes are infertile and meiocytes arrest at a stage equivalent to mid-­‐pachytene in wt. Investigations of the synaptonemal complex (SC) formation revealed severe defects suggesting a role for MCMDC2 in homology search. Moreover, MCMDC2 does not seem to be essential for DSB repair, as DSB markers of early and mid recombination nodules, like DMC1 and RPA, are decreased in oocytes. Nevertheless, late recombination nodules, which are positive for MutL homolog 1 (MLH1), do not form in both sexes. The absence of the asynapsis surveillance checkpoint mechanism in Hormad2 deficient ovaries with Mcmdc2 mutant background allowed survival of oocytes. This points into the direction that Mcmdc2 knock­out oocytes get eliminated after prophase I due to failed homologous synapsis. Interestingly, MCMDC2 contains a conserved helicase domain, like the MCM protein family members MCM8 and MCM9. I therefore hyphothesize that Mcmdc2 promotes homolgy search

Sähkönlaadun ja energiankulutuksen tutkimus

Opinnäytetyössä tutkitaan sähkönlaadun ja energiankulutusta Raute Oyj:n rakentamissa vaneri- ja LVL-viilupalkkikoneissa. Opinnäytetyön tarkoituksena on selvittää esiintyykö Raute Oyj:n valmistamissa koneissa sähkönlaatua heikentäviä tekijöitä, kuten harmonisia yliaaltoja. Sähkönlaatua heikentävien tekijöiden lisäksi opinnäytetyössä selvitetään mahdollisuutta moottorikeskusten mitoituksessa käytettävän korjauskertoimen tarkentamiselle. Opinnäytetyön teoriaosassa esitellään sähkönlaatuun vaikuttavia tekijöitä, sekä niiden vaikutuksia sähköverkkoon ja verkonkäyttäjälle. Lisäksi teoriaosassa käydään läpi ratkaisuja, joilla esimerkiksi sähköverkossa esiintyvien yliaaltojen pitoisuutta voidaan vähentää tai poistaa kokonaan. Verkossa esiintyville häiriöille kuten harmonisille yliaalloille, taajuuden ja jännitteen vaihteluille on määritelty rajoituksia standardilla SFS-EN 50160, myös näitä rajoituksia ja niiden vaikutuksia sähkönlaatuun käydään läpi opinnäytetyön teoriaosassa. Sähkönlaatua ja energiankulutusta mitattiin kahdessa Raute Oyj:n koneessa, ja näiden mittaukseen käytettiin Fluken power quality analyzer mallia olevaa mittalaitetta. Mittaustuloksissa huomattiin sähkönlaadun olevan yleisesti hyvällä tasolla ja täyttävän standardissa SFS-EN 50160 sähkönlaadulle määritellyt raja-arvot. Tulosten perusteella huomattiin myös, että joissakin tapauksissa keskusten mitoituksessa käytettäviä korjauskertoimia pystyy tarkentamaan.The study researches the quality of electricity and the energy consumption on plywood and laminated veneer lumber (LVL) machines manufactured by Raute Plc. The Thesis aims to examine the potential existence of factors reducing the quality of electric, such as harmonic waves, on machines manufactured by Raute Plc. In addition to examine the electricity quality and consumption of energy, the thesis looks into the possibility of elaboration of motorcabin’s equalisation. The theory part of the Thesis presents factors that influence electric quality, as well as their influences on the electricity network and network’s users. Additionally, the theory part discusses solutions, which for instance reduce or eliminate harmonic waves in electric network. SFS-EN 50160 standard defines restrictions for disturbance in electric network such as harmonic waves, frequency and voltage variation, these restrictions are also presented in the theory part of the Thesis. In this study, electric quality and energy consumption were measured in two different machines manufactured by Raute Plc, and the measurements were conducted by Fluke power quality analyser measuring device. Electric quality was generally high according to the measurements, and it meets the electric quality standards defined in SFS-EN 50160. The measurements also indicated that in some cases the equalisation is possible to elaborate