The Alpine ibex (Capra ibex) gut microbiome, seasonal dynamics, and potential application in lignocellulose bioconversion.

Aiming to shed light on the biology of wild ruminants, we investigated the gut microbiome seasonal dynamics of the Alpine ibex (Capra ibex) from the Central Italian Alps. Feces were collected in spring, summer, and autumn during non-invasive sampling campaigns. Samples were analyzed by 16S rRNA amplicon sequencing, shotgun metagenomics, as well as targeted and untargeted metabolomics. Our findings revealed season-specific compositional and functional profiles of the ibex gut microbiome that may allow the host to adapt to seasonal changes in available forage, by fine-tuning the holobiont catabolic layout to fully exploit the available food. Besides confirming the importance of the host-associated microbiome in providing the phenotypic plasticity needed to buffer dietary changes, we obtained species-level genome bins and identified minimal gut microbiome community modules of 11-14 interacting strains as a possible microbiome-based solution for the bioconversion of lignocellulose to high-value compounds, such as volatile fatty acids.

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA-ribosiduria) is an extremely rare inborn error of purine biosynthesis metabolism caused by pathogenic variants in ATIC gene that encodes a protein catalyzing the last steps of the de novo purine biosynthesis. To date, only six cases have been reported presenting a severe phenotype characterized by coarse facies and variable dysmorphic features, intrauterine and postnatal growth retardation, severe and early neurodevelopment delay, profound congenital visual deficit, scoliosis and, less frequently, epilepsy, aortic coarctation, chronic hepatic cytolysis, nephrocalcinosis and mild genitalia malformation. In this article, we report two new cases of AICA-ribosiduria carrying new pathogenic variants in ATIC (c.421C>T;p.Arg141Ter and c.1753A>G p.Thr585Ala) associated to a milder phenotype compared to previously reported patients. Particularly, the children showed few dysmorphic features (bulging forehead, depressed nasal bridge, and flat nasal tip), postnatal growth impairment, psychomotor delay since the second year of life, reduction of visual acuity (from mild impairment to low vision from the age of 5 years and to partial blindness from the age of 7 years) and mild hepatic dysfunctions. Scoliosis as well as epilepsy, renal involvement, or genitalia malformation were not detected. According to literature data, we found an abnormal accumulation of intermediates of de novo purine biosynthesis in the urine of both siblings. This report expands the spectrum of phenotypic severity associated to ATIC biallelic pathogenic variants and prompts the need to investigate ultra-rare causes of metabolic disorders such as AICA-ribosiduria in subjects with early neurological and sensory involvement of uncertain etiology.

Social cognition in individuals born preterm.

Faces hold a substantial value for effective social interactions and sharing. Covering faces with masks, due to COVID-19 regulations, may lead to difficulties in using social signals, in particular, in individuals with neurodevelopmental conditions. Daily-life social participation of individuals who were born preterm is of immense importance for their quality of life. Here we examined face tuning in individuals (aged 12.79 ± 1.89 years) who were born preterm and exhibited signs of periventricular leukomalacia (PVL), a dominant form of brain injury in preterm birth survivors. For assessing the face sensitivity in this population, we implemented a recently developed experimental tool, a set of Face-n-Food images bordering on the style of Giuseppe Arcimboldo. The key benefit of these images is that single components do not trigger face processing. Although a coarse face schema is thought to be hardwired in the brain, former preterms exhibit substantial shortages in the face tuning not only compared with typically developing controls but also with individuals with autistic spectrum disorders. The lack of correlations between the face sensitivity and other cognitive abilities indicates that these deficits are domain-specific. This underscores impact of preterm birth sequelae for social functioning at large. Comparison of the findings with data in individuals with other neurodevelopmental and neuropsychiatric conditions provides novel insights into the origins of deficient face processing.

Effectiveness evaluation of an integrated automatic thermomechanic massage system (SMATH® system) in non-specific sub-acute and chronic low back pain - a randomized double-blinded controlled trial, comparing SMATH therapy versus sham therapy: study protocol for a randomized controlled trial.

BACKGROUND: Low back pain (LBP) is a major health problem in modern society, with 70-85% of the population experiencing LBP at some time in their lives. Each year, 5-10% of the workforce misses work due to LBP, most for less than 7 days. Almost 10% of all patients are at risk of developing chronic pain and disability. Little clinical evidence is available for the majority of treatments used in LBP therapy. However, moderate evidence exists for interdisciplinary rehabilitation, exercise, acupuncture, spinal manipulation, and cognitive behavioral therapy for subacute and chronic LBP. The SMATH® system (system for automatic thermomechanic massage in health) is a new medical device (MD) that combines basic principles of mechanical massage, thermotherapy, acupressure, infrared therapy, and moxibustion. SMATH® is suitable for automatic multidisciplinary treatment on patients with non-specific sub-acute and chronic LBP. METHODS/DESIGN: This paper describes the protocol for a double-blinded, sham-controlled, randomized, single-center short term clinical trial in patients with non-specific sub-acute and chronic LBP aged 18 to 70 years. The primary outcome will be the effectiveness of SMATH® versus sham therapy (medical device without active principles) determined by evaluating self perceived physical function with Roland Morris Disability Questionnaire (RMDQ) scores after 4 weeks of treatment (end of treatment). Major secondary outcome will be effectiveness of SMATH® determined by evaluating self perceived physical function comparing RMDQ scores between end of treatment and baseline. The trial part of the study will take 7 months while observational follow-up will take 11 months. The sample size will be 72 participants (36 for each arm). The project has been approved by the Ethical Committee of Cremona Hospital, Italy on 29 November 2010. DISCUSSION: Compared to other medical specialties, physical and rehabilitation medicine (PRM) has not yet received the deserved recognition from clinicians and researchers in the scientific community, especially for medical devices. The best way to change this disadvantage is through well-conducted clinical research in sham-controlled randomized trials. Sham treatment groups are essential for improving the level of evidence-based practice in PRM. The present trial will counter the general lack of evidence concerning medical devices used in LBP therapy. TRIAL REGISTRATION: ISRCTN: ISRCTN08714168.

Phytoremediation trials on metal- and arsenic-contaminated pyrite wastes (Torviscosa, Italy).

At a site in Udine, Italy, a 0.7m layer of As, Co, Cu, Pb and Zn contaminated wastes derived from mineral roasting for sulphur extraction had been covered with an unpolluted 0.15m layer of gravelly soil. This study investigates whether woody biomass phytoremediation is a realistic management option. Comparing ploughing and subsoiling (0.35m depth), the growth of Populus and Salix and trace element uptake were investigated in both pot and field trials. Species differences were marginal and species selection was not critical. Impaired above-ground productivity and low translocation of trace elements showed that bioavailable contaminant stripping was not feasible. The most significant finding was of coarse and fine roots proliferation in surface layers that provided a significant sink for trace elements. We conclude that phytostabilisation and effective immobilisation of metals and As could be achieved at the site by soil amelioration combined with woody species establishment. Confidence to achieve a long-term and sustainable remediation requires a more complete quantification of root dynamics and a better understanding of rhizosphere processes.

Pattern of lymph node metastases in squamous cell carcinoma of the tonsil: implication for selective neck dissection.

The aim of this study was to prospectively analyze the distribution of neck metastases and the outcome in patients surgically treated for tonsillar carcinoma in order to deduce implications for selective neck dissection. The criteria for inclusion in the study were (1) previously untreated, histologically proven, resectable squamous cell carcinoma of the tonsil, (2) curative surgical intent on the primary tumor and neck, (3) no history of prior head and neck cancer, (4) absence of synchronous second primary in the upper aerodigestive tract, lung and esophagus, (5) absence of distant metastases. Fifty-eight previously untreated consecutive patients with tonsillar squamous cell carcinoma were included in this prospective study. Among 22 patients with clinically negative cervical lymph nodes, 4 patients (18.2%) had metastatic lymph nodes on pathologic examination. Occult node metastases were mainly located in ipsilateral II level. No occult metastases occurred at levels I and V. Among 36 patients with clinically positive cervical lymph nodes, 3 patients (8.3%) had an occult pathologic metastatic involvement of cervical lymph nodes of ipsilateral level V. Level I was free of lymph node metastases. Clinical N category >N2a (p=0.003), nodal metastases to levels III (p=0.026) and IV (p=0.009) were significantly related to level V nodal metastases. The 2 and 5 years actuarial disease-free survival was 82.7% (95% CI 71.2-93.5%) and 58.3% (95% CI 36.7-79.9%), respectively. The actuarial recurrence-free survival was 87.9% (95% CI 78.9-96.8%) and 72.2% (95% CI 53.9-90.5%) at 2 and 5 years, respectively. Our findings support the role of a selective lateral neck dissection in the management of clinically N0 necks and in selected N+ necks (N1 and N2a disease located at level II) in patients with tonsillar carcinoma without oral involvement.

Long-term results with tracheoesophageal voice prosthesis: primary versus secondary TEP.

The aim of this study was to evaluate the influence of timing of tracheoesophageal puncture (TEP)with indwelling voice prosthesis insertion regarding long-term success rate and postoperative complication. We conducted a Retrospective clinical study at tertiary academic center. There were 75 patients with primary TEP (80.6%) and 18 with secondary TEP (19.3%). Long-term success rate was 81.7%, with 80.0% in primary TEP and 88.9% in secondary TEP. No significant difference in Harrison-Robillard-Schultz Rating Scale success assessment were observed between patients with primary and secondary TEP (P = .596). The use of postoperative radiotherapy did not significantly influence the success rate. The age of patients who were older or younger than 60 years significantly influence the success rate in primary TEP (P = .012). The higher rate of complications in primary TEP was not statistically significant. These findings suggest that primary and secondary TEP are equally safe and effective procedures. Primary TEP should be preferred because of avoiding a second surgical intervention and allowing early voice restoration with a considerable psychological impact.

Conservative management of deep neck abscesses in adults: the importance of CECT findings.

OBJECTIVES: To review cases of DNAs with special emphasis on contrast-enhanced computed tomography (CECT) findings and their implications for treatment planning. STUDY DESIGN AND SETTINGS: Retrospective evaluation of adult patient records with diagnosis of DNAs on CECT at Treviso Regional Hospital. RESULTS: Eighty patients were identified. In 30.0% of cases, an immediate surgical drainage was performed. In 22.5% of cases, a surgical drainage was necessary because of the lack of clinical response to medical therapy alone. Almost half of the patients were treated with antibiotics alone with complete remission. DM was predictive for lack of response to medical therapy alone (P=0.014). Intraoperative findings confirmed the CECT diagnosis in 88.1%. CONCLUSIONS: Although the mainstay of treatment for deep neck abscesses remains surgical drainage, small abscesses can respond to antibiotics alone. CECT monitoring of DNAs was the essential steps in choosing the more appropriate treatment and, probably, the basis for the good prognosis of patients.