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Schilbach-Rott syndrome (SRS, OMIM% 164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, and recurrence in two of these families suggests an autosomal dominant inheritance. SRS overlaps with a mild form of holoprosencephaly (HPE), but array-CGH analysis and sequencing of some HPE-related genes (SEPT9, SHH and TWIST) did not reveal any variants in at least one family. Herein, we investigated by array-CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter-father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32 (98,049,611_98,049,636) x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1. The duplication segregated with the disease, since it was not found in the healthy paternal grandparents of the proband. The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. This is the first genetic variant found in SRS. This finding reinforces the hypothesis that SRS belongs to the HPE clinical spectrum and suggests to perform array-CGH in patients with SRS phenotype and, if negative, to consider a potential benefit from sequencing of HPE-related genes.

OBJECTIVE To assess the usefulness, feasibility, and limitations of pedicled multifidus muscle flaps (PMMFs) for the treatment of inaccessible dural tears during spine surgery. METHODS The technique of PMMF harvesting was investigated together with relevant anatomy. We prospectively evaluated 8 patients treated with the PMMF technique between January 2017 and December 2019. Results were compared with a retrospective series of 9 patients treated with a standard technique between January 2014 and December 2016. Inclusion criteria were inaccessible dural tear or dural tear judged not amenable to direct repair because of tissue loosening. Exclusion criteria were surgical treatment of intradural disease. Clinical and demographic data of all patients were collected. Clinical evaluations were performed according to American Spinal Injury Association criteria and Oswestry Disability Index. Preoperative and postoperative computed tomography was performed in all patients. The primary end point was wound healing (cerebrospinal fluid leakage, infection, and fluid collection); secondary end points were neurologic outcome and complications. RESULTS Control group: 1 death as a result of wound infection secondary to cerebrospinal fluid fistula and 2 patients needed lumbar subarachnoid drain; neurologic outcome: 3 patients improved and 6 were unchanged. Flap group: no wound-related complications were observed; neurologic outcome: 3 patients improved and 5 were unchanged. No flap-related complications were described. Flap harvesting was feasible in all cases, with an average 20 minutes adjunctive surgical time. CONCLUSIONS The PMMF technique was feasible and safe; in this preliminary experience, its use is associated with lower complications as a result of dural tears but larger series are needed to confirm its effectiveness.

Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5-year-old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole-exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen-magnetic resonance spectroscopy (H-MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7-related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth.

There are numerous and different uses of rosemary (Rosmarinus officinalis L.) essential oil (e.o.) and experimental results indicating which of the e.o. components is responsible for a specific biological activity. Consequently, it is worth to consider not only the seasonal variation of the the e.o. content but also the proportion of e.o. components that might vary according to season as well. Our aim was to determine the monthly variation in the e.o. composition, plant growth and e.o. yield of an almost continuously flowering rosemary natural population in a coastal Mediterranean environment, in order to understand the best utilization of e.o. according to the oil components detected by means of GC/MS along the different seasons. Alpha pinene ranging from 75.4 to 18.2% and eucalyptol from 15.6 to 3.5%, were the most represented components in all periods of samplings. Camphor and borneol increased in the samplings done after summer. Flowering occurred almost continuously except in the period from mid May to mid August. Production of e.o. was slightly affected by sampling period. The high concentration in alpha pinene, up to a level not recorded before according to the available literature, could be exploited for new pharmaceutical uses. The observation of leaves, stems and flowers by means of scanning electron microscopy, showed in all the examined plant parts the presence of glandular trichomes particularly numerous on leaves in the basal part of the adaxial lamina indicating the importance of leaves for e.o. production.

INTRODUCTION: Here we show the results of two clinical projects carried out in Vietnamese patients suffering from low back pain or stroke aftermath comparing with our protocols with and without ozone therapy. MATERIAL and METHODS: We did a first evaluation (project 1 - 179 patients) of adding ozone therapy in our protocols for low back pain and stroke aftermath. After realizing of the positive results, we started the second proyect (207 patients), comparing directly our old and new protocols that include ozone therapy. The treatment from low back pain were executed with classical paraverteberal injections of ozone. The treatment of stroke were executed with intramuscular injections of ozone in the affected area. RESULTS: Comparing with our traditional treatment methods, ozone can improve the speed and the efficacy of the treatment. CONCLUSION: Due to the small sample size, the results has limitations. However the primary evaluation is a reference which requires to have better collaboration with other physicians in order to increase the sample size and validite strongly this technique.

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development. The NBAS protein has been implicated in two key cellular processes, namely the non-sense mediated decay and the Golgi-to-Endoplasmic Reticulum retrograde traffic. Both functions were impaired in HEK293T cells overexpressing the truncated NBAS protein, as assessed by Real-Time PCR, Western blot analysis, co-immunoprecipitation, and immunofluorescence analysis. We examined the expression of NBAS protein in mouse embryos at various developmental stages by immunohistochemistry, and detected expression in developing chondrogenic and osteogenic structures of the skeleton as well as in the cortex, hippocampus and cerebellum, which is compatible with a role in bone and brain development. Functional genetics in the zebrafish model showed that depletion of endogenous z-nbas in fish embryos results in defective morphogenesis of chondrogenic cranial skeletal elements. Overall, our data point to a conserved function of NBAS in skeletal morphogenesis during development, support the hypothesis of a causative role of the mutated NBAS gene in the pathogenesis of AFFND1 and extend the spectrum of phenotypes associated with defects in this gene.

Purpose of investigation The aim of this study was to assess the efficacy of the quantitative fluorescent-polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) combined system to detect chromosome alterations in miscarriage products, as an alternative to conventional cytogenetic testing. Material and methods This study was conducted between 2011 and 2015 on 264 samples, analyzed using the combined system: QF-PCR/MLPA. This approach first analyzed miscarriage products for chromosomes 13, 18, 21, X and Y, using QF-PCR analysis; in case of ovular fragments, an analysis of maternal DNA was carried out in order to establish the origin of material. Whenever fetal origin was determined, MLPA analysis on the subtelomeric regions was car- ried out. Results On 264 miscarriages analyzed, 229 were of fetal origin and produced the following results: 53.7% normal and 46.3% pathological. Of the latter, 74.4% were autosomal aneuploidies, 10.4% triploidies, 8.5% sex chromosomal aneuploidies, 3.7% structural alterations, and 2.7% multiple aneuploidies. Results from QF-PCR were obtained from all samples, whereas unambiguous MLPA re- sults were obtained in about 90% of all cases. Conclusion This approach results being highly effective for examining all chromosome aneuploidies, triploidies, as well as structural unbalanced alterations in the subtelomeric regions.

Lo sviluppo e il potenziamento delle filiere produttive a partire dalla valorizzazione delle risorse autoctone e del sapere locale costituiscono i presupposti per raccogliere nuove idee progettuali. Fare sistema e proporsi sul mercato in termini più concorrenziali, con prodotti tracciabili e di alta qualità è l'obiettivo che si pongono Enti locali , organismi di ricerca e imprenditori attraverso l'analisi dei problemi e dei fabbisogni al fine di individuare gli obiettivi da raggiungere in un Progetto strategico territoriale. Di seguito sono descritti degli esempi di cooperazione progettuale in corso di sviluppo nel nostro territorio: Progetto "CarBio - Carciofo biologico: innovazione e sostenibilità di filiera" Il progetto ha come obiettivo principale l'introduzione nella filiera produttiva del carciofo Spinoso sardo di un prodotto fresco o semilavorato ottenuto in regime biologico. Nello specifico, le produzioni saranno confrontate in funzione di produttività, aspetti qualitativi, nutrizionali, nutraceutici e di conservabilità del prodotto fresco. Saranno individuate poi le tecnologie più idonee a prolungare la shelf-life (vita di scaffale) e a garantire una migliore qualità del prodotto fresco da destinare non solo ai mercati locali ma anche all'esportazione verso mercati nazionali e internazionali. Tracciabilità nella filiera foraggero-zootecnica I cambiamenti attesi mireranno alla diversificazione delle produzioni, creazione di reddito aggiuntivo, conservazione e valorizzazione della biodiversità in eco-agrosistemi innovativi. Le strategie future, attraverso il trasferimento di conoscenze tecnico-scientifiche consolidate alle imprese, in stretta connessione con gli Enti territoriali, saranno indirizzate alla loro competitività nelle filiere agro-zootecniche e turistiche, alla valorizzazione di risorse vegetali autoctone e dei prodotti zootecnici e alla formazione di figure professionali specifiche.

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless (AMN) or cubilin (CUBN) genes have been described in IGS. We describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. With the appearance of macrocytic anemia, aphthous stomatitis, and neurological signs, IGS was clinically suspected, and vitamin B12 parenteral therapy was started. Sequence analysis showed the presence of a novel intronic variant c.513+5G>A of AMN, never before described in the literature, that was in compound heterozygosity with the known pathogenetic variant c.1006+34_1007-31del. Analysis extension to the parents revealed the presence of variant c.1006+34_1007-31 in the father and c.513+5G>A in the mother. In the present case with IGS, the novel intronic variant of AMN was identified in “trans„ with a known pathogenic variant (c.1006-31 del) and the new variant was interpreted to be pathogenetic since it was not found in the public database of polymorphisms and because it was predicted to alter a donor splicing site. Our case underlines the relevance in detecting certain subtle symptoms, such as mild but persistent proteinuria associated with megaloblastic anemia, to reach a correct diagnosis of a rare but treatable disorder.

In addition to its uses in pharmaceuticals, perfumes, and cosmetics, rosemary's multiple biological activities may be applied to preserve foodstuffs and reduce the risks of foodborne diseases (1). The black Aspergilli group, in particular Aspergillus carbonarius (Bain.) Thom, is a common Mediterranean contaminant, especially of fruit. This fungus, besides being a contaminant, can also produce ochratoxin A (OTA), a highly toxic fungal secondary metabolite (2). Therefore, fungal growth control is very important for the safeguarding of both plant production and human health. We tested the effect of rosemary essential oil (e.o.) on the inhibition of A. carbonarius growth in a conducive liquid medium. Rosemary cuttings from a rosemary natural population in Alghero (NW Sardinia) were transplanted in an experimental field in Castelsardo-Lu Bagnu (NW Sardinia) in May 2017. Morpho-phenological data were collect on plants and the e.o. was extracted by steam distillation and used for a biological activity assay against A. carbonarius. The e.o. chemical profile was also determined by GC-MS. Variability of both morphological traits and of phenology were observed within the rosemary population, and two plant types were identified, one of which produced a higher number of flowers and had a longer flowering season. The main components of e.o. were ?-pinene, eucalyptol and camphene for one type and ?-pinene, caryophyllene and camphene for the other. The rosemary e.o. significantly inhibited growth of A.carbonarius. This result should encourage verification of this oil's other biological activities, such as its effect on OTA biosynthesis by the same fungus. This study was developed in collaboration with the Temporary Reception Center for migrants and asylum seekers (CAS) of Baja Sunajola run by the Social Cooperative La Luna in Lu Bagnu-Castelsardo, in the frame of a training project about medicinal and aromatic plants cultivation for essential oil production. Acknowledgment: the support of "Fondazione con il Sud" to Artemisia Project is gratefully acknowledged.

In Mediterranean grazed woodlands, microclimate changes induced by trees influence the growth and development of the understory but very little is known about its phenolic composition in relation to the contrasting exposure to full sunlight or shade. Phenolic acids, flavonoids and tannins are the most important compounds for biological activities and especially antioxidant properties and related implications in animal nutrition and welfare. The research was carried out in a cork oak agrosilvopastoral system in Sardinia, where we investigated the bioactive compounds and antioxidant capacity of different legume-based swards subjected to variations in light intensity. Open areas with full sunlight exposition (FS) and areas under tree canopy with partial shade conditions (PS), under a cork oak (Quercus suber L.) density of 450 trees ha-1 were carefully identified. Light levels of photosynthetically active radiation were measured using a SunScan canopy analysis system (Delta-T Devices, Cambridge, UK). For both FS and PS, the following legume based swards were compared: Fertiprado commercial legume mixture, with 100% annual legume composition, CNR ISPAAM mixture, with 80% legume composition, Bladder clover, Trifolium spumosum L., elite Sardinian accession pure sward and semi natural pasture with 60% of legume composition. Total phenolics, total flavonoid and antioxidant capacity were determined and single phenolic compounds were identified. Light interception by cork trees was 85, 77 and 70% in January, April and May, respectively due to the different solar azimuth angle of the seasons. The antioxidant capacity,total phenolics and total flavonoid of the different legume-based swards were significantly affected by the contrasting conditions of light intensity, as well as by the type of legume-based sward. Compared to full sunlight, partial shade reduced antioxidant capacity values by 29 and 42%, and total phenolics content by 23 and 53% in Fertiprado and semi natural pasture. Twelve phenolic compounds were detected, verbascoside in bladder clover mixture was the most abundant in full sunlight and neochlorogenic acid and isorientin were abundant in partial shade in CNR ISPAAM mixture and in unsown semi-natural pasture respectively. As antioxidant capacity and the content of plant secondary metabolites ascertained in the legume-based swards could potentially affect the nutritional properties of forage, their variations caused by contrasting light intensities thus represent a particular benefit, which must be exploited as an additional service from agroforestry. Our results provide new insights into the effects of light intensity on plant secondary metabolites from legume based swards, underlining the important functions provided by agroforestry systems.