Five-year recurrence after endoscopic approach to pilonidal sinus disease: A multicentre experience.

PURPOSE: The aim of this study was to evaluate the 5-year recurrence rate of pilonidal sinus disease (PSD) after endoscopic sinusectomy and identify risk factors for recurrence. METHODS: All consecutive patients from September 2011 through December 2017 who underwent endoscopic sinusectomy at seven referral centres for pilonidal sinus treatment were retrospectively analysed from a prospectively maintained database. RESULTS: Out of 290 patients (185 males versus 105 female, with a mean age of 25.5±6.9), 73 presented recurrence at 5-year follow-up with a recurrence rate of 25.2%. The number of pilonidal sinus with pits off the midline (p = 0.001) and the mean (SD) distance from the most lateral orifice to the midline (p = 0.001) were higher in the group of patients with recurrence at 5-year follow-up. Multivariate analysis demonstrated that the position of the pits off the midline (p = 0.001) and the distance of the most lateral orifice from the midline (p = 0.001) were independent risk factors for recurrence at 5-year follow-up. Receiver operating characteristic (ROC) curve analysis showed that the distance of lateral orifice from midline predicted an 82.2% possibility of recurrence at 5-year follow-up and Youden's test identified the best cut-off as 2 cm for this variable. Out of 195 cases with the most lateral orifice less than 2 cm from the midline, 13 presented recurrence at 5-year follow-up with a recurrence rate of 6.7%. Out of 95 cases with the most lateral orifice more than 2 cm from midline, 60 showed recurrence at 5-year follow-up with a recurrence rate of 63.2%. CONCLUSIONS: This data may help guide which disease characteristics predict the optimal use of an endoscopic pilonidal sinus technique.

"Early" and "definitive" taking charge of subjects positive to SARS-CoV2: the experience of an Italian Local Health Authority.

Abstract: During the second covid-19 pandemic wave in November-December 2021 Prevention Departments had to face a hardly-sustainable workload of contact tracing and taking charge of the sars-cov2 positive case and of his or her close contacts. Also laboratories have been stressed in their ability to process timely the extraordinary load of swabs performed. In this context of hazardous delays, the Prevention Department of Belluno (Italy) tested its resilience: a simple and effective method of taking charge was implemented, by initially phoning to the positive case and imposing the isolation measure on him or her and later on proceeding with the conventional contact tracing.

Clinical and dermoscopic changes of acquired melanocytic nevi of patients treated with afamelanotide.

BACKGROUND: Afamelanotide (AFA) is a synthetic analogue of α-melanocyte-stimulating hormone that is approved for the treatment of patients affected by erythropoietic protoporphyria (EPP). AFA induces a "sun free" tanning and changes of acquired melanocytic nevi (AMN) that are generically described as "darkening". OBJECTIVES: To assess clinical and dermoscopic AMN changes during AFA treatment. METHODS: Adult EPP patients treated with two AFA implants 50 days apart were enrolled. They underwent a clinical and dermoscopic examination of all AMN at baseline (T0), and after 5 (T1) and 12 (T2) months from the first AFA implant. The general pattern, symmetry, number, and size of pigmented globules, morphology of the pigment network, and dermoscopic melanoma features were assessed. RESULTS: Fifteen patients were enrolled with 103 AMN. At T1 all reticular and 2-component AMN showed a focal network thickening that returned to baseline by T2. The increase of globules' number was observed at T1 but not at T2. The difference in number was not influenced by patients' age or phototype. Dermoscopic changes suggestive of malignancy were never seen. The development of new AMN was never registered. CONCLUSIONS: AFA treatment induces reversible changes of AMN dermoscopic morphology without findings suggestive of malignant transformation and it does not stimulate the development of new AMN.

Use of molecular tools for the diagnosis of rangeliosis by Rangelia vitalii in Argentina: A case report.

Vector-borne pathogens are responsible for serious emerging diseases and Rangelia vitalii, the etiologic agent of canine rangeliosis, is one of the most pathogenic tick-borne pathogens for dogs in South America. This protozoan is transmitted by the Amblyomma aureolatum tick bite and the clinical features associated to the disease are fever, hemolytic anemia, jaundice, hepatosplenomegaly and bleeding from natural orifices, mainly from the ear egde. The reports of canine rangeliosis in Argentina are scarce. In the present study we report the detection of Rangelia vitalii in a naturally infected dog from Gualeguay, Entre Ríos, Argentina with history of tick infestation and clinical signs compatible with rangeliosis. An initial blood sample was positive to piroplasmids by blood smear examination and the molecular amplification of a fragment of the 18SrRNA gene. Sequencing of the fragment confirmed the pathogen identity. After treatment with imidocarb dipropionate, the clinical signs remitted and the blood smear tested negative.

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study.

BACKGROUND AND PURPOSE: Muscle-strengthening, stretching or proprioceptive treatments may slow symptom progression in Charcot-Marie-Tooth (CMT) neuropathy. The aim of the study was to evaluate safety and efficacy of treadmill training in CMT1A. METHODS: We planned a multicenter, prospective, randomized, single-blind, controlled study. We recruited 53 outpatients affected by CMT1A and randomized them into two treatment groups: one underwent stretching and proprioceptive exercise, whereas the other was additionally treated with treadmill training (TreSPE). Primary outcome measures (OMs) were the walking evaluations and secondary OM was the balance assessment. All participants were assessed at baseline and after 3 and 6 months of treatment. RESULTS: Most patients showed an improvement in at least one OM after 3 months [42/47 (89.4%)] and 6 months [38/40 (95%)] of treatment. No adverse events were reported in either group. CONCLUSIONS: The most important finding was that both stretching and proprioceptive exercise and treadmill training had an objective benefit on patients affected by CMT disease, without causing overwork weakness. We had a low rate of drop out and did not find deterioration in motor performance. Our results also confirm that applying evidence-based medicine methods to rehabilitative research is the correct way to test the efficacy of a treatment.

Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.

Using a Sendai Virus based vector delivering Yamanaka Factors, we generated induced Pluripotent Stem Cells (iPSCs) from peripheral blood mononuclear cells of a patient affected by Ataxia Telangiectasia (AT), caused by a novel homozygous deletion in ATM, spanning exons 5-7. Three clones were fully characterized for pluripotency and capability to differentiate. These clones preserved the causative mutation of parental cells and genomic stability over time (>100 passages). Furthermore, in AT derived iPSCs we confirmed the impaired DNA damage response after ionizing radiation. All these data underline potential usefulness of our clones as in vitro AT disease model.

Non-nursing tasks as experienced by nurses: a descriptive qualitative study.

BACKGROUND: Different concepts have been used to date (e.g. non-nursing tasks, organizational work) to define tasks performed by clinical nurses other than nursing care. However, the true essence of nursing work is still poorly understood mostly because nurses are lacking an appropriate lexicon to describe their practice. AIMS: To describe non-nursing tasks as experienced by nurses, exploring antecedents and consequences as perceived in daily practice. METHODS: A descriptive qualitative study from 2015 to 2016. A purposeful sample of nurses was approached. Semi-structured interviews were used, and content analysis was performed on audio-recorded and verbatim-transcribed interviews. FINDINGS: A total of 22 nurses participated, the majority of whom were female (16; 72.7%) and their average age was 42.6 years. The concept of 'Non-nursing tasks' is limited in describing what nurses experience in daily practice; the concept of 'Being out of the nursing role' emerged as being fully descriptive of the nurses' experience and this can occur in two dimensions: outside and inside the role of other healthcare professions. The first dimension includes administrative work separating nurses from patients. The second dimension was reported to happen in proximity to patients but in three different directions towards professions requiring: (a) less education (e.g. healthcare assistants), (b) the same amount of education at university level (e.g. physiotherapists), and (c) higher education at university level as compared to nurses, thus performing activities expected by physicians. Antecedents of 'Being out of the nursing role' have been identified at the organizational, individual and educational levels; their consequences have been reported at the patient, professional and organizational levels. CONCLUSION: Nurses play various non-nursing roles, below, above and in the horizontal levels, both inside and outside other healthcare professionals' role, mainly as a result of their felt moral obligation to offer the best to their patients, the organization's demand to nurses and the imprinting of nursing education. IMPLICATIONS FOR NURSING/HEALTH POLICY: Strategies at the nursing professional and policy levels are needed aimed at (a) supporting nurses in optimizing their professional identity, (b) sharing their sense of moral obligation towards patients with other healthcare professionals, and (c) implementing models of care based on interprofessional cooperation.

Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study.

OBJECTIVE: Charcot-Marie-Tooth neuropathy affects mainly and early the lower limbs, but hands deformities are a relevant problem, which involves the quality of life of the patients. Unfortunately, there are few studies about the evaluation of the upper limbs and very rare works about the rehabilitation. A treatment study at the moment is missing and it is important to search rehabilitation exercises to improve the dexterity and the quality of life of the patients. METHODS: We recruited 9 patients with clinical and genetic diagnosis of CMT and we proposed a rehabilitation protocol which includes muscle recruitment, stretching and proprioceptive exercises for the hand with the duration of 4 weeks (two sessions for week). We evaluated the patients before and one week after the treatment with Thumb Opposition Test, Sollerman Hand Function Scale, dynamometry (tripod pinch and hand grip). RESULTS: The rehabilitation protocol has been well tolerated and there were not dropouts. We did not observe any worsening in every scale we used. Every parameter tested showed an improvement especially in the right/dominant hand. CONCLUSION: This study demonstrates that this three phases treatment is well tolerated by patients, it is not detrimental for the hands status and perfectly reproducible by professionals. Moreover, this could be the basis for future randomized single blind projects.

Effect of radial shock wave therapy on pain and muscle hypertonia: a double-blind study in patients with multiple sclerosis.

BACKGROUND: Radial shock wave therapy (RSWT) has been extensively used in rehabilitative medicine to treat pain, and more recently muscle hypertonia, in patients with cerebral palsy and stroke. OBJECTIVES: To assess the long-term effects of RSWT in a cohort of subjects affected by multiple sclerosis (MS) who were suffering from painful hypertonia of ankle extensor muscles. METHODS: In this randomised, double blind, placebo-controlled study, we treated 34 patients with four sessions of RSWT (once weekly) and treated 34 patients with placebo. Participants were assessed at baseline, 1 week after the first session, and 1 week and 4 weeks after the last session. We measured pain using the visual analogue scale for pain, while we assessed muscle tone using the modified Ashworth scale and evaluated spinal excitability using the H-reflex. RESULTS: After RSWT, muscle tone decreased 1 week after the last session and pain decreased at all the follow-up evaluations, while spinal excitability was unaffected. No significant changes were found after the placebo treatment. CONCLUSIONS: RSWT can reduce pain and muscle tone in MS patients without adverse effects. The lack of RSWT effects on spinal excitability supports the idea that RSWT is likely to act on non-reflex hypertonia, for example reducing muscle fibrosis.

Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study.

BACKGROUND: The combination of distal muscle weakness, sensory defects and feet deformities leads to disequilibrium in patients affected by Charcot-Marie-Tooth (CMT) neuropathy. Studies relating the outcome of balance scales and clinical severity of CMT are lacking. AIM: To evaluate the accuracy of the Tinetti Balance scale (TBS) and Berg Balance scale (BBS) in identifying balance disorders and quantifying disease severity in CMT patients. DESIGN: Observational study. SETTING: University of Genoa-IRCCS AOU San Martino IST-Department of Neurology, Italy. POPULATION: Nineteen individuals with a diagnosis of CMT (12 females, 7 males, age 41.26±12.42). METHODS: All subjects underwent an evaluation with both TBS and BBS. Disability was quantified with CMT neuropathy score (CMTNS). Moreover, a complete neurophysiological study was performed. Distal lower limbs strength was evaluated with MRC scale. Pearson rank order correlation was used to determine the correlation between the scores on the two tests and to identify an eventual correlation between TBS or BBS and the CMTNS. RESULTS: Both scales showed a highly significant negative correlation with the CMTNS (r=-0.78, P<0.0005 and r=-0.77, P<0.001, respectively) and distal weakness on the anterior tibial muscles (AT) (TBS: AT left: r=0.65, P<0.005 and AT right: 0.59, P<0.01; BBS: AT left r=+0.71, P<0.001 and AT right r=+0.66, P<0.005). We found also a highly significant, positive correlation between the two different balance scales (r=+0.9, P<0.0001). CONCLUSION: TBS and BBS strongly correlate with disease disability and distal muscular weakness. CLINICAL REHABILITATION IMPACT: Both TBS and BBS may play a relevant role in the assessment of disability in patients affected by CMT. Further studies are needed to validate our results in a larger population.

Use of IGL-1 preservation solution in liver transplantation.

University of Wisconsin (UW) solution has been known as the standard solution for liver graft preservation. Alternative preservation solutions have been used in liver transplantation, such as histidine-tryptophan-ketoglutarate (HTK) and Celsior solution. Institut Georges Lopez-1 (IGL-1) is a new preservation solution with lower potassium and lower viscosity than UW solution that has recently been used in liver transplant. Data from 178 patients who received transplants from August 2008 to June 2013 at Hospital Santa Isabel, Blumenau, Brazil, were analyzed. All patients received grafts from brain death donors. In November 2011 we started to use IGL-1 as an alternate preservation solution. Therefore, 53 patients using IGL-1 preserved grafts were compared to 125 using HTK solution. The donor age in the HTK group ranged from 11-77 years, with a mean of 43.4 ± 4.8. In the IGL-1 group donor age ranged from 9-62 years, with a mean of 35.8 ± 4.5. Cold ischemia time in the HTK group ranged from 85-1145 minutes, mean 443.5 ± 183.5 minutes. In the IGL-1 group, cold ischemia time ranged from 85-670 minutes, mean 329.3 ± 134.8 minutes. The overall operative mortality rate was 14% (25 patients); in the HTK group, 14.4% (18 patients); and in the IGL-1 group, 13.4% (7 patients). One graft in the HTK group presented with primary non-function (PNF), 0.7%; there were none in the IGL-1 group. In our study, IGL-1 has been shown to be safe to use as a preservation solution for liver transplantation. Early post-transplant graft function was comparable to that observed with HTK solution, although a tendency for lower alanine aminotransferase levels was noticed. IGL-1 has been shown to be safe, cost efficient, and an effective preservation solution.

Endoscopic pilonidal sinus treatment (E.P.Si.T.).

We present a new video-assisted minimally invasive technique for the treatment of pilonidal disease (E.P.Si.T: endoscopic pilonidal sinus treatment). Between March and November 2012, we operated on 11 patients suffering from pilonidal disease. Surgery is performed under local or spinal anesthesia using the Meinero fistuloscope. The external opening is excised and the fistuloscope is introduced through the small hole. Anatomy is identified, hair and debris are removed and the entire area is ablated under direct vision. There were no significant complications recorded in the patient cohort. The pain experienced during the postoperative period was minimal. At 1 month postoperatively, the external opening(s) were closed in all patients and there were no cases of recurrence at a median follow-up of 6 months. All patients were admitted and discharged on the same day as surgery and commenced work again after a mean time period of 4 days. Aesthetic results were excellent. The key feature of the E.P.Si.T. technique is direct vision, allowing a good definition of the involved area, removal of debris and cauterization of the inflamed tissue.

Decompressive craniectomy and brain death prevalence and mortality: 8-year retrospective review.

Decompressive craniectomy (DC) is a surgical practice that has been used since the late 19th century. The cerebral blood flow increase after the performance of a DC can delay and even prevent the development of cerebral circulatory arrest and brain death (BD). We aimed to determine the prevalence of BD, the use of DC, and the evolution to BD with versus without DC. This retrospective, observational, cross-sectional study was performed in a single high-intensity center in Argentina from January 2003 to December 2010. Inclusion criteria were all patients with Glasgow Coma Score of at most 7 on admission or during their stay in the intensive care units. Exclusion criteria were patients with incomplete data. In cases of death, we assessed whether they fulfilled BD criteria or if the cause of death was a cardiac arrest (CA). The 698 patients considered for analysis showed a 60% (n = 418) global mortality rate. The causes were: CA (n = 270); BD (n = 108) and others considered to be "undefined," namely not assessed completely for the diagnosis of BD (n = 40). According to diagnosis category, traumatic brain injury (TBI) was largest (nearly 50%). The DC group (n = 206) showed significant differences regarding sex and diagnosis category versus no DC group. Mortality was significantly lower in this group (48% versus 65%, P < .001). No significant differences were observed comparing causes of death (CA, BD, or undefined). The use of DC did not influence the frequency of BD development (24% versus 26%, P = .72). The average DC rate was 30% and of BD 16%. The prevalence of DC and better survival were recorded compared with subjects without DC. The prevalence of BD was lower than expected in accordance with national registries; however, among our group, DC did not seem to modify the evolution to BD.

A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome.

AIM: To perform a genetic screening for the multiple endocrine neoplasia type 1 (MEN1) gene mutations in patients affected by an apparently sporadic form of the disease, referred to an internal medicine unit of a large general hospital. SUBJECTS AND METHODS: In a group of 12 consecutive patients presenting clinical features of MEN type 1 syndrome, we performed a genetic screening for germline MEN1 gene mutations, including complete sequencing of the coding region (exons 2 to 10) and multiplex ligation-dependent probe amplification analysis for large deletion detection. RESULTS: Among these patients affected by apparently sporadic MEN type 1 syndrome, a targeted clinical history could detect indirect support for a diagnosis of familial condition only in 2 cases. The genetic screening identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A previously unknown 18 base-pair deletion within exon 3, c.564_581delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary hyperparathyroidism and multifocal pancreatic neoplasia. CONCLUSIONS: Our results underscore the importance of performing genetic testing also in apparently sporadic MEN1 patients and extend the list of molecular variants leading to inactivation of the MEN1 gene.

Video-assisted anal fistula treatment (VAAFT): a novel sphincter-saving procedure for treating complex anal fistulas.

BACKGROUND: Video-assisted anal fistula treatment (VAAFT) is a novel minimally invasive and sphincter-saving technique for treating complex fistulas. The aim of this report is to describe the procedural steps and preliminary results of VAAFT. METHODS: Karl Storz Video Equipment is used. Key steps are visualization of the fistula tract using the fistuloscope, correct localization of the internal fistula opening under direct vision, endoscopic treatment of the fistula and closure of the internal opening using a stapler or cutaneous-mucosal flap. Diagnostic fistuloscopy under irrigation is followed by an operative phase of fulguration of the fistula tract, closure of the internal opening and suture reinforcement with cyanoacrylate. RESULTS: From May 2006 to May 2011, we operated on 136 patients using VAAFT. Ninety-eight patients were followed up for a minimum of 6 months. No major complications occurred. In most cases, both short-term and long-term postoperative pain was acceptable. Primary healing was achieved in 72 patients (73.5%) within 2-3 months of the operation. Sixty-two patients were followed up for more than 1 year. The percentage of the patients healed after 1 year was 87.1%. CONCLUSIONS: The main feature of the VAAFT technique is that the procedure is performed entirely under direct endoluminal vision. With this approach, the internal opening can be found in 82.6% of cases. Moreover, fistuloscopy helps to identify any possible secondary tracts or chronic abscesses. The VAAFT technique is sphincter-saving, and the surgical wounds are extremely small. Our preliminary results are very promising.

Structure and biology of self lipid antigens.

Self lipid antigens induce selection and expansion of autoreactive T cells which have a role in immunoregulation and disease pathogenesis. Here we review the important biological rules which determine lipid immunogenicity. The impact of lipid structure, synthesis, traffic, membrane distribution and CD1 loading are discussed.

Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

To assess the prevalence of genetic mutations in nonsyndromic pheochromocytoma/paraganglioma (PHEO/PGL) patients we have performed a systematic search for mutations in the succinate dehydrogenase (SDH) B, C, and D subunits, von Hippel-Lindau (VHL), and RET genes by direct bidirectional sequencing. Patients were selected from the medical records of hypertension centers. After exclusion of syndromic patients, 45 patients with familial (F+, n=3) and sporadic (F-, n=42) cases of isolated PHEO/PGL were considered. They included 35 patients with PHEO, 7 with PGL, and 3 with head/neck PGL (hnPGL). Three patients with PHEO (2F-, 1F+) presented VHL mutations (P86A, G93C, and R167W), six with PGL (4F-, 2F+) were positive for SDH or VHL mutations (SDHB R230G in two patients, SDHB S8F, R46Q, R90Q, and VHL P81L in one subject each), and one with hnPGL carried the SDHD 348-351delGACT mutation. We have also detected missense (SDHB S163P, SDHD H50R and G12S), synonymous (SDHB A6A, SDHD S68S), and intronic mutations that have been considered nonpathological polymorphic variants. No mutation was found in SDHC or RET genes. Our data indicate that germline mutations of VHL and SDH subunits are not infrequent in familial as well as in sporadic cases of nonsyndromic PHEO/PGL (overall, 12 of 45 probands, 22%). Accordingly, screening for such mutations seems to be justified. However, a more precise characterization of the functional relevance of any observed sequence variant and of other genetic and environmental determinants of neoplastic transformation is essential in order to plan appropriate protocols for family screening and follow-up.

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.

A number of genetic and environmental factors are taken into account as responsible for intrauterine growth restriction (IUGR); nevertheless, the relevance of genetic alteration in IUGR aetiology remains to be determined. The aim of this study was to investigate using a combined cytogenetic-molecular approach, improved by a new application of QF-PCR method, the presence of mosaic chromosomal changes in fetal/placental samples from 12 pregnancies with unexplained severe IUGR. This multiple approach allowed us to reveal and quantify subtle chromosomal mosaicisms with less than 5% of trisomic cells even in cases in which cytogenetic and FISH analyses failed to reveal them. These are three pregnancies with a mosaic trisomy for chromosomes 7, 2 and 14; the former case presented matUPD7 and was previously described in this journal (Placenta 22 (2001) 813) in association with pre- and postnatal growth restriction. It is intriguing that chromosomes 7, 2 and 14 are known or suspected to harbour imprinted genes, so that an unbalanced gene dosage in a subset of cells during embryonic development could lead to an early impairment of placental function. Our findings indicate that extensive molecular and cytogenetic studies of IUGR fetal and placental tissues are necessary to reveal at least part of the heterogeneous genetic lesions implicated in IUGR phenotypes.

A new aspect in glycolipid biology: glycosphingolipids as antigens recognized by T lymphocytes.

T cells may recognize a large variety of ligands with different chemical structures. Recently, glycosphingolipids have also been shown to stimulate human T lymphocytes. Recognition of glycosphingolipids is restricted by the nonpolymorphic CD1 molecules, expressed by professional antigen-presenting cells and by macrophages infiltrating inflammatory sites. CD1 molecules have a structure resembling that of classical MHC class I molecules, with the terminal extracellular domains characterized by two antiparallel alpha helices placed on two hydrophobic pockets. The glycosphingolipids bound to CD1 insert the lipid tails in the two pockets and position the hydrophilic head on the external part of CD1. The TCR interacts with aminoacids present in the two alpha helices and with residues provided by the carbohydrate moiety of glycosphingolipids and discriminates their structural variations. T cells recognizing self-glycosphingolipids release proinflammatory cytokines and may have a pathogenetic role in autoimmune diseases such as multiple sclerosis.