Statistical correlation between enterovirus genome copy numbers and infectious viral particles in wastewater samples

Aims: Classic virological tests are time consuming and labour-intensive; realtime RT-PCR has proven to be a fast method to detect and quantify enterovirus genomes in clinical and environmental samples. This method is unable to discriminate between infective and noninfective enterovirus particles; few clinical studies have compared real-time RT-PCR and viral culture. We wondered if the enterovirus genome quantification could be correlated to the infectivity. Methods and Results: We used the statistical approach to verify our hypotheses to correlate data, obtained by the standard method (most probable number of cytopathic units—MPNCU) and molecular test (real-time RT-PCR), on wastewater treatment plant samples. Chi-squared test was used, considering several cut-off values (‘50’-‘100’-‘200’ genome copy numbers), to determine statistical significance in comparison of the two methods. Chi-square value was not significant when cut-off of 50 (P = 0Æ103) and 100 (P = 0Æ178) was assumed but was significant with cut-off of 200 (P = 0Æ044). Conclusion: This limit, 200 genome copy, could be used as cut-off value to indicate enterovirus survival in environmental monitoring. Significant and Impact of the Study: To introduce a fast procedure that is able to compensate for disadvantages of cell culture method for viral environmental analyses

Are PEI-coated SWCNTs conjugated with hepatitis A virus? A chemical study with SEM, Z-potential, EDXD and RT-PCR

The conjugation between nanotubes, coated with different doses of polyethylene imine (PEI) and hepatitis A virus (HAV) was investigated by scanning electron microscopy, Z-potential, thermogravimetric and differential thermal analysis, transmission electron microscopy, energy dispersive x-ray diffraction (EDXD) and reverse transcript polymerase chain reaction (RT-PCR). For the first time, to our knowledge, evidence is obtained that conjugation between the nanotubes and the HAV occurs and that it has an (at least a partial) electrostatic character. Since all components of the conjugated systems, nanotubes, coating material and virus are characterized by different peak shapes in the selected q range, it was possible to infer that conjugation occurred. RT-PCR measurements confirmed that the conjugation of the coated nanotubes and HAV occurred and the result was stable. This opens up the prospect of probing the coated nanotubes as intra-cellular carriers in transfection processes of the virus. Further biological applications will concern a possible vaccine especially for non-replicative viruses

Endoscopic radiofrequency facet joint treatment in patients with low back pain: technique and long-term results. A prospective cohort study

Aims: The aim of the study was to evaluate the efficacy of endoscopic rhizotomy (ER) for denervation of lumbar facet joints in patients with chronic low back pain (LBP) due to facet joint syndrome (FJS). Methods: A total of 50 consecutive patients suffering from chronic LBP due to facet joints were screened to be treated with ER. The patients participating in the study had a 2-year follow up. Numeric Rating Scale (NRS) and Oswestry Disability Index (ODI) were assessed in the preoperative and postoperative period. To evaluate secondary endpoints, patients were divided into groups. One group included the patients previously treated with percutaneous radiofrequency (RF). The other group comprised patients at their first interventional treatment. We also compared patients dividing them by age and by number of joints treated, trying to elucidate if these parameters could be predictive of effectiveness of the procedure. Results: All patients had a reduction in NRS and an improvement in ODI. NRS was reduced significantly after 1 month and remained the same until the end of the study. ODI was significantly improved from T1 (1 month after surgery) up to T7 (end of the study). The improvements did not differ whether already treated with percutaneous rhizotomy or not. Patients less than 60 years or with 1–2 joints treated had better improvement compared with the others. Conclusion: The results obtained demonstrate that ER for denervation of the facet joint is an effective treatment in patients with chronic LBP, with consistent and stable results at 2-year follow up. The technique has a rapid learning curve and no major complications occurred. Moreover, the previous percutaneous RF treatment had no influence on the results obtained with endoscopic technique. There is evidence that best results are obtained in younger patients and/or in patients with 1–2 joints treated. Lay summary: Low-back pain has facet joints inflammation or degeneration as pain generator in 20–40% of cases. Nervous lesion of the dorsal ramus innervating the facet joints has been shown as an efficacious treatment to obtain good analgesia. Percutaneous techniques have provided short term results for several reasons. This research aimed to see whether endoscopic denervation, which guarantees a more precise approach to anatomical structure, would result in more durable results. The study conducted on 40 patients has made it clear that this approach gives significant analgesia for at least 2 years, which was the time of patient follow up

Ambulatory surgery for perianal Crohn’s disease. Study of feasibility

Background. One-third of Crohn’s disease (CD) patients present perianal fistula. The gold standard in the diagnosis and treatment of symptomatic perianal disease (PAD) in CD is the exploration of the anal canal and distal rectum under anesthesia (EUA). This procedure is mainly conducted as a day case surgery. Unfortunately, it is not always possible to proceed within the ideal timing and any delay may well represent a relevant clinical issue. The aim of this study was to evaluate the feasibility of outpatient treatment of symptomatic perianal fistulas in CD patients. Methods. All CD patients under regular follow-up at our inflammatory bowel disease referral center, presenting with symptomatic perianal fistulas, were offered surgical consultation. The data of patients were prospectively collected for three years (February 2014 to February 2017) for the purpose of the study. All clinical information, including previous EUA and/or records from MRI and endoscopic ultrasound, was included. Outpatient anal canal and distal rectum exploration and treatment (OE) were undertaken during the specialist surgical consultation. Fistulas were classified according to Parks’s classification; the type of outpatient treatment and compliance of patients were recorded. Pain was assessed by VAS at the time of the procedure and during the first control. Patients were followed up in the surgical clinic in relation to the study. Results. Ninety-two CD patients with symptomatic perianal fistulas had surgical consultation during the study period. OE was offered to all but 18 patients who fulfilled the exclusion criteria or had an extremely severe disease; six patients refused the OE (8.11%). Of the 68 patients undergoing OE, eleven (16.18%) had previous surgery for perianal disease. The OE was accomplished in sixty-one patients (89.71%), while in 7 patients, it was abandoned for scarce compliance. Nine patients (14.75%) underwent drainage of perianal abscess; in 3 of them, it was possible to probe the fistula tract, find the internal orifice, and pass a loose seton. Overall, setonage was performed in 50 patients (81.97%). Rectovaginal setons were placed in 3 patients and more than one seton (up to 3) in 6 cases. Fistulotomy was performed in 4 simple subcutaneous fistulous tracts. Concordance with the preoperative findings was found in 54 out of 61 patients. EUA was scheduled at the time of OE for the 7 patients who did not complete the procedure. All sixty-one patients who had the OE were followed up for a minimum of 12 months. Conclusions. This preliminary study indicates that OE in CD patients with symptomatic perianal fistulas is safe and feasible in a high-volume referral center. It might provide several benefits, including patients’ logistics, reduce or remove patients’ symptoms and discomfort, allow for a timely start of medical therapy, and avoid further complications

Oral health conditions in an Albanian adolescent population: An epidemiological study

The aim of this study was to determine the oral health conditions of an adolescent population of Tirana

Preoperative Immunonutrition vs. Standard Dietary Advice in Normo-Nourished Patients Undergoing Fast-Track Laparoscopic Colorectal Surgery

Immunonutrition (IN) appears to reduce infective complications and in-hospital length of stay (LOS) after major gastrointestinal surgery, but its use in normo-nourished patients is still controversial. The primary aim of this comparative observational study was to evaluate if pre-operative IN reduces in-hospital stay in patients undergoing laparoscopic colorectal resection for cancer under an enhanced recovery after surgery (ERAS) program. The influence of IN on time to first bowel movements, time to full oral diet tolerance, number and type of complications, reasons of prolonged LOS and readmission rate was evaluated as secondary outcome. Patients undergoing ERAS laparoscopic colorectal resection between December 2016 and December 2019 were reviewed. Patients who have received preoperative IN (group A) were compared to those receiving standard dietary advice (group B). Mean in-hospital LOS was significantly shorter in patients receiving preoperative IN than standard dietary advice (4.85 ± 2.25 days vs. 6.06 ± 3.95 days; p < 0.0492). No differences in secondary outcomes were observed. Preoperative IN associated with ERAS protocol in normo-nourished patients undergoing laparoscopic colorectal cancer resection seems to reduce LOS

Preoperative Immunonutrition vs. Standard Dietary Advice in Normo-Nourished Patients Undergoing Fast-Track Laparoscopic Colorectal Surgery

Immunonutrition (IN) appears to reduce infective complications and in-hospital length of stay (LOS) after major gastrointestinal surgery, but its use in normo-nourished patients is still controversial. The primary aim of this comparative observational study was to evaluate if pre-operative IN reduces in-hospital stay in patients undergoing laparoscopic colorectal resection for cancer under an enhanced recovery after surgery (ERAS) program. The influence of IN on time to first bowel movements, time to full oral diet tolerance, number and type of complications, reasons of prolonged LOS and readmission rate was evaluated as secondary outcome. Patients undergoing ERAS laparoscopic colorectal resection between December 2016 and December 2019 were reviewed. Patients who have received preoperative IN (group A) were compared to those receiving standard dietary advice (group B). Mean in-hospital LOS was significantly shorter in patients receiving preoperative IN than standard dietary advice (4.85 ± 2.25 days vs. 6.06 ± 3.95 days; p < 0.0492). No differences in secondary outcomes were observed. Preoperative IN associated with ERAS protocol in normo-nourished patients undergoing laparoscopic colorectal cancer resection seems to reduce LOS

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants: a maternally inherited missense variant (p.R4122H) in HUWE1, an ubiquitin protein ligase associated to X-linked intellectual disability and ASD; and a de novo stop variant (p.Q259X) in TPH2, encoding the tryptophan hydroxylase 2 enzyme involved in serotonin synthesis and associated with susceptibility to attention deficit-hyperactivity disorder (ADHD). TPH2, expressed in central and peripheral nervous tissues, modulates various physiological functions, including gut motility and sleep. To the best of our knowledge, this is the first case presenting with ASD, cognitive impairment, sleep, and gastrointestinal disturbances linked to both HUWE1 and TPH2 genes. Our findings could contribute to the existing knowledge on clinical and genetic diagnosis of patients with ASD presentation with comorbidities

Genotype-phenotype correlation of 2q37 deletions including NPPC gene associated with skeletal malformations

Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have described three patients with a Marfan-like phenotype presenting a de novo balanced translocation involving the same chromosomal region 2q37.1 and overexpression of NPPC. We report on two partially overlapping interstitial 2q37 deletions identified by array CGH. The two patients showed opposite phenotypes characterized by short stature and skeletal overgrowth, respectively. The patient with short stature presented a 2q37 deletion causing the loss of one copy of the NPPC gene and the truncation of the DIS3L2 gene with normal CNP plasma concentration. The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene. In addition, a strongly elevated CNP plasma concentration was found in this patient. A possible role of NPPC as causative of the two opposite phenotypes is discussed in this study