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Embj (139)

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.

In some parts of the world, Cyperus esculentus L. is widely used as a healthy food for both humans and animals due to their nutritional and functional properties. Current research and reviews on this plant have focused mainly on organoleptic properties, phytochemical compositions, oil content, biochemical activities, and nutritional values. The medicinal properties of Tiger nut are seldom discussed, although its medicinal use is well known in folklore activities. To explore the medicinal properties of Tiger nut, this review tries to investigate the potential anticancer properties of components issued from Tiger nut by reviewing the existing literature in the field. Based on the evidence from the review, it is recommended that there is a need for further investigation into the proposed anticancer properties of Tiger nut. 

This Edition of the Italian National Conference of the Italian MRPHs (Giornate degli Specializzandi in Igiene e Medicina Preventiva S.It.I.) - the fourth - has been conceived with a new format. The aim of the conference is to represent a constructive opportunity for Public Health Medical Residents to improve their education and knowledge through oral and poster sessions, as well as through interactive discussions with Public Health experts, workshops, and opportunities dedicated to developing relationships and cooperation among Public Health Residents across Europe, thanks to the presence of members of the European Network of Medical Residents in Public Health (EuroNet MRPHs) and European Public Health Association (EUPHAnxt Project). The  topics are linked by a central theme designed to acheive a highly valuable exchange of scientific knowledge in the MRPH community.

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.

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.

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.

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.

Crohn's disease (CD) is a type of inflammatory bowel disease (IBD) and its etiology is multifactorial and involves a combination of genetic and environmental factors. The interaction of these factors causes an imbalance in the microbiota, leading to the activation of several immunological and inflammatory mechanisms. From an immunological point of view, there seems to be an involvement of the TIM-3/galectin-9 pathway an of the autoregulation of LyTh1. The studies show that in patients with CD the autoregulation of LyTh1 is lost due to a reduced concentration of galectin-9 and a reduced TIM-3 expression in LyTh1. This could be one of the reasons for the state of perpetual activation in LyTh1, resulting in the chronic inflammatory process.

Clinical use of Amplatzer Vascular Plug in central and peripheral vascular system has been extensively described in the literature. We present a case of occlusion of  left vertebral artery (LVA) performed by deploying an Amplatzer Vascular Plug, in addition to microspheres plus coils for embolization of the deep cervical branches that feed a cervical metastasis involving the left VA. After the endovascular intervention, the patient underwent surgical resection of the lesion. The application of the device, the use of multiple embolic materials, as well as the angiographic and clinical results of the procedure, were evaluated because not previously reported in the literature. Hence, we provide an updated literature review about clinical use of Amplatzer Vascular Plug in supra-aortic vessels.

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.

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