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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.

Published in Embj

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.

Published in Embj

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.

Published in Embj

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.

Published in Embj

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.

Published in Embj

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.

Published in Embj

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

The objective of this study was to evaluate the changes in some bacterial species of colonic microbiota, the clinical signs and the intestinal changes in mice with 2,4,6trinitrobenzenesulfonic acid (TNBS)-induced colitis.  CD-1 male mice were randomly divided into three groups and inoculated intrarectally with saline, ethanol or TNBS solutions. Ethanol and TNBS treatments induced weight loss accompanied by mild and severe inflammation of the colon mucosa, respectively. However, TNBS-treated mice displayed significant differences compared to the saline group in terms of disease activity index and histological scoring. Both ethanol and TNBS groups showed an increased prevalence of Escherichia coli and Clostridium spp., a decrease in Lactobacilli and Bifidobacteria counts, as well as changes in the relative proportions of bacteria in the colon.  The results confirm the validity of TNBS treatment to study the mechanisms involved in the pathogenesis and progression of inflammatory bowel diseases (IBD) in CD-1 mice. Gut microbiota may become a diagnostic biomarker with therapeutic potential for IBD in the future.

Published in Embj
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