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Cerebral cavernous malformations (CCMs) are benign tumours that affect brain capillaries. Although many cases remain asymptomatic, their incidence is steadily increasing. CCMs can arise sporadically or be inherited as autosomal dominant character. Inherited forms result from mutations at three different loci CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Etiology of sporadic forms is still unclear. Among the various molecular mechanisms proposed, presence of somatic mutations was sometimes proven. Here we report results obtained by a molecular screening of the three CCMs genes, performed on both germ-line and somatic DNA, isolated from CCM endothelial cells, in eight patients affected by sporadic lesions, who undergone surgery. Comparison of germ-line and somatic sequencing data, for each patient, showed no differences. Our results confirm that presence of somatic mutations is not sufficient to explain CCMs onset in patients affected by sporadic forms and with no CCM genes germ-line mutations. Other possible pathogenic mechanisms are also discussed.

Published in Embj

Rheumatoid Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy affecting peripheral visual field and usually culminates in complete blindness. Among mutations in 73 genes implicated in RP pathogenesis, those in RP1 gene are inherited in autosomal recessive or dominant fashion. In RP Sicilian patients, we detected 3  polymorphisms in RP1 exon 4 hotspot region, not known to be associated with RP disease. Here, their frequency in Sicilian populations was assayed in order to detect possible association with RP. Samples from 220 unrelated healthy donors born and living in Sicily for at least two generations and 50 RP patients from Messina were screened. Frequencies of all three polymorphisms in RP patients from Messina were about twice those observed in the healthy controls from the same town and the overall Sicilian population. An association between 3 polymorphisms and RP was suggested, although their role in other related disorders cannot be excluded.

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The demographic and epidemiological transitions resulted in a pressing need to reformulate the health workforce demand and to revise pre- and post-graduate training to prepare the medical profiles to meet the new health needs focused on chronic diseases. The Italian Junior Doctors Association and the Giotto Movement carried out a web survey to identify the motivational aspects and the level of satisfaction of Italian junior doctors regarding knowledge and skills acquired after attending the General Practitioners’ specific training (GP-ST). Three-hundred-forty-seven General Practitioners (GPs), 302 trainees and 45 newly qualified trainees answered a web questionnaire. Significant differences (p-value= 0.018) were documented between the two groups regarding the level of satisfaction on the GP-ST. The analysis by geographic macro-areas of the answers given by the 302 trainees showed a heterogeneous level of overall satisfaction (p-value= 0.005). In conclusion, the evidence provided by this cross-sectional study support the proposal to evolve the GP-ST regional courses into general practice and primary care specialization schools.

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Human immunodeficiency virus (HIV) causes a sexually transmitted disease (STD) affecting the human immune system. It is mainly transmitted through sexual intercourse, blood transfusions, hypodermic needles, and parenterally. Multiple actions can be taken to prevent the spread of HIV/AIDS, such as condom and sterile needle use and HIV testing for pregnant women. This study aims to assess freshmen students’ awareness, knowledge, attitudes, and behavioral perceptions regarding HIV/AIDS at Oakland University (OU) in Michigan. This study is a cross-sectional survey targeting freshman students at OU. The questionnaire is comprised of seven sections including demographics, risk perception, protection measures alcohol  tendencies, health-seeking behaviors, culturally sensitive issues, and methods of dissemination of information. The mean age of respondents was 20. The majority of respondents knew that HIV is transmitted sexually (98%) and by sharing needles (98%). Many misconceptions about transmission of HIV were expressed by 53%. Data showed that while there was good knowledge regarding HIV transmission and prevention, some misconceptions still prevailed. Our results indicate the need to develop educational programs with specific interventions to raise awareness about preventive measures, clear misconceptions, and promote healthy lifestyle in order to prevent new HIV infections among young college students.

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Rheumatoid arthritis (RA) is an inflammatory joint disorder whose progression leads to destruction of cartilage and bone. Chemokines, molecules able to induce chemotaxis in inflammation, are involved in RA pathogenesis. Aim of this study was to determine whether -2150 A>G and delta32 (Δ32) polymorphisms in the chemokine receptor 5 (CCR5) confer susceptibility to rheumatoid arthritis. Polymorphisms were assessed in 70 seropositive RA patients and 200 healthy individuals of Messina and province.  About -2150 A>G polymorphism, a significant increase in AG genotype frequency was observed in controls than in patients, despite a not significant difference in allelic frequencies. Conversely, allelic and genotypic frequencies related to Δ32 polymorphism were significantly higher in controls group than in patients. Furthermore, in the patient group no individuals with Δ32/Δ32 genotype were found. These results suggest that CCR5 polymorphisms seem to play an important role in susceptibility to RA exerting a protective role in the disease.

Published in Embj

Positive airway pressure is the treatment of choice among obstructive sleep apnea syndrome patients. Among surgical options, multilevel approach is a good option in patients with an involvement of all tract of first airway. The aim of the present work is to establish the efficacy of anterior palatoplasty in the treatment of selected patients with mild obstructive sleep apnea syndrome or simple snoring, within a multilevel surgery. The group was composed of 16 mild obstructive sleep apnea syndrome adult patients collected from January 2015 to June 2016 at University of Palermo, Ear, Nose and Throat Department. To make diagnosis of obstructive sleep apnea syndrome, we employed polysomnography, the Epworth Sleepiness Scale and an endoscopic study of aerodigestive tract in order to identify the sites of collapse. All patients underwent to inferior turbinate reduction, anterior pharyngoplasty and hyoid suspension. After treatment, 11 patients had Apnea Hypopnea Index ≤5 and 4 patients less than 50% compared to the starting one. According to Epworth Sleepiness Scale, the daytime sleepiness enhanced from 12.6 to 8.6 post-operative average. Pre-operative mean value of Muller’s maneuver was N (nose):2.6, O (oropharinx):3.4, H (hypopharinx):2.5 Before performing surgical procedure each patient was subjected to sleep endoscopy to evaluate better the pattern of collapse. The post-operative mean outcomes of Mueller’s Maneuver was: N 1.5, O 1.3, H 1.3. Barbed Anterior pharyngoplasty, combined with other surgical procedures, can be considered a valid surgical option to relieve snoring, and mild apnoic events. Our preliminary results, show that the anterior palatoplasty, combined with other surgical procedures, can be considered a valid surgical option to relieve snoring and mild apnoic events.

Published in Embj

Several lines of evidence showed that apoptosis rate of cumulus cells in oocytes derived by assisted reproductive technologies could be used as an indicator of fertilizing gamete quality. Aim of the study was to investigate the effects of three different ovarian stimulation protocols on the biological and clinical outcome in hyporesponder patients. Collected data showed a higher significant rate of DNA fragmentation index (DFI) in U group (patients treated with Highly Purified human Menopausal Gonadotrophin) than in P group (treated with recombinant human Follicle Stimulating Hormone (r-hFSH) combined with recombinant human Luteinizing Hormone (r-hLH)). Both groups R (treated with r-hFSH alone) and P showed a significant increase in collected and fertilized oocytes number, embryo quality number. This study showed that combined r-hFSH/r-hLH therapy could represent the best pharmacological strategy for controlled ovarian stimulation and suggests to use DFI as a biomarker of ovarian function in hyporesponder patients.

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Was previously discovered that in the leech Hirudo medicinalis, acetyl-l-carnitine (ALC) affects forms of non-associative learning, such as sensitization and dishabituation, due to nociceptive stimulation of the dorsal skin in the swim induction behavioural paradigm, likely through modulating the activity of the mechanosensory tactile (T) neurons, which initiate swimming. Since was found that ALC impaired sensitization and dishabituation, both of which are mediated by the neurotransmitter serotonin, the present study analyzed how ALC may interfere with the sensitizing response. Was already found that ALC reduced the activity of nociceptive (N) neurons, which modulate T cell activity through serotonergic mediation.

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The Retinitis pigmentosa (RP) is an inherited heterogeneous ocular disorder characterized by progressive retinal degeneration. Although at least 50 genes are known to be causative of RP, many others are still unidentified. We describe a Sicilian female patient affected by an unknown form of RP. She was screened by Whole Genome Sequencing, and the subsequent variant analysis was integrated with filtering and pathway analysis and enrichment. Finally, the relevant variants were analyzed in silico to establish their potential effects. Based on previous analyses, 15 intronic variants, distributed across 6 genes (EYS, PPEF2, RNF144B, RDH13, FLT3 and MYO7A), were selected as potential candidates for disease association. Finally, the consequent in silico analysis highlighted their possible role in splicing alterations. The involvement of these genes in the pathogenesis of RP and the newly discovered role of splicing alteration events may offer new insights into the diagnosis of unknown forms of retinitis pigmentosa.

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The Wrist fractures are one of the most frequent traumatic pathologies. Surgery is now more commonly recommended for this type of fracture as a means to improve the outcome of patients. The objective of this study is to compare treatment with volar plate vs. external fixation in these types of fractures. A total of 158 consecutive patients who had been operated on for distal radius fractures with or without ulnar involvement, were included in this study. 109 were treated with a volar plate and 49 with Hoffmann II external fixator. The exclusion criteria were patients with a history of wrist fractures, with neurological diseases, pathological fractures and polytrauma patients. Clinical and radiographic results were evaluated in both groups of patients. Clinical parameters were: average flexion, average extension, average pronation and supination, and the average radial and ulnar deviation. The radiographic parameters that we considered were the radial tilt and ulnar variance. In both groups, we evaluated the clinical results with the DASH score and the Mayo-Wrist score. The unstable and intra-articular fractures of the distal radius can be treated with different methods, among which the most commonly used are the open reduction and internal fixation with plates or the synthesis with external fixation. Our study shows how both methods provide similar clinical and radiographic results, so the choice of which to use depends more on the surgeon's experience and the patient's compliance rather than on the type of fracture.

 

Published in Embj
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