Seprafilm: a retrospective preliminary evaluation of the impact on short-term oncologic outcome in colorectal cancer

Hyaluronate carboxymethylcellulose-based bioresorbable membrane (Seprafilm ) has been used as a method of postoperative adhesion prevention. However, its short-term effect on colorectal cancer recurrence remains unknown

Mucocele appendicolare gigante. Caso clinico

Appendiceal mucocele is an uncommon disorder caused by accumulation of mucus within the appendiceal lumen. Mucoceles represent a heterogeneous group comprising various histopathologic lesions including mucosal hyperplasia, cystoadenomas, and cystoadenocarcinomas and prognosis is related to these subtypes. The most common symptom is pain or a palpable mass in the right lower quadrant on physical examination. The preoperative diagnosis is performed with abdominal US and confirmed with CT scan; typical CT scan image is a capsulated cystic mass with calcification of the wall while US pattern shows cystic lesion with the onion skin sign considered a specific sonographic marker for appendiceal mucocele. In conclusion a cystic mass sonographically detected with onion skin sign, in the presence of normal female reproductive organs, suggest the diagnosis of appendiceal mucocele

High Cervical Spinal Cord Stimulation: A One Year Follow-Up Study on Motor and Non-Motor Functions in Parkinson’s Disease

Background: The present study investigated the effectiveness of stimulation applied at cervical levels on pain and Parkinson’s disease (PD) symptoms using either tonic or burst stimulation mode. Methods: Tonic high cervical spinal cord stimulation (T-HCSCS) was applied on six PD patients suffering from low back pain and failed back surgery syndrome, while burst HCSCS (B-HCSCS) was applied in twelve PD patients to treat primarily motor deficits. Stimulation was applied percutaneously with quadripolar or octapolar electrodes. Clinical evaluation was assessed by the Unified Parkinson’s Disease Rating Scale (UPDRS) and the Hoehn and Yahr (H&Y) scale. Pain was evaluated by a visual analog scale. Evaluations of gait and of performance in a cognitive motor task were performed in some patients subjected to B-HCSCS. One patient who also suffered from severe autonomic cardiovascular dysfunction was investigated to evaluate the effectiveness of B-HCSCS on autonomic functions. Results: B-HCSCS was more effective and had more consistent effects than T-HCSCS in reducing pain. In addition, B-HCSCS improved UPDRS scores, including motor sub-items and tremor and H&Y score. Motor benefits appeared quickly after the beginning of B-HCSCS, in contrast to long latency improvements induced by T-HCSCS. A slight decrease of effectiveness was observed 12 months after implantation. B-HCSCS also improved gait and ability of patients to correctly perform a cognitive–motor task requiring inhibition of a prepared movement. Finally, B-HCSCS ameliorated autonomic control in the investigated patient. Conclusions: The results support a better usefulness of B-HCSCS compared to T-HCSCS in controlling pain and specific aspects of PD motor and non-motor deficits for at least one year

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, renal abnormalities, postaxial polydactyly, and developmental defects. Genes mutated in BBS encode for components and regulators of the BBSome, an octameric complex that controls the trafficking of cargos and receptors within the primary cilium. Although both structure and function of the BBSome have been extensively studied, the impact of ubiquitin signaling on BBSome is largely unknown. We identify the E3 ubiquitin ligase PJA2 as a novel resident of the ciliary compartment and regulator of the BBSome. Upon GPCR-cAMP stimulation, PJA2 ubiquitylates BBSome subunits. We demonstrate that ubiquitylation of BBS1 at lysine 143 increases the stability of the BBSome and promotes its binding to BBS3, an Arf-like GTPase protein controlling the targeting of the BBSome to the ciliary membrane. Downregulation of PJA2 or expression of a ubiquitylation-defective BBS1 mutant (BBS1 K143R) affects the trafficking of G-proteincoupled receptors (GPCRs) and Shh-dependent gene transcription. Expression of BBS1 K143R in vivo impairs cilium formation, embryonic development, and photoreceptors' morphogenesis, thus recapitulating the BBS phenotype in the medaka fish model

Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance

none20Vertebrate vision relies on the daily phagocytosis and lysosomal degradation of photoreceptor outer segments (POS) within the retinal pigment epithelium (RPE). However, how these events are controlled by light is largely unknown. Here, we show that the light-responsive miR-211 controls lysosomal biogenesis at the beginning of light–dark transitions in the RPE by targeting Ezrin, a cytoskeleton-associated protein essential for the regulation of calcium homeostasis. miR-211-mediated down-regulation of Ezrin leads to Ca2+ influx resulting in the activation of calcineurin, which in turn activates TFEB, the master regulator of lysosomal biogenesis. Light-mediated induction of lysosomal biogenesis and function is impaired in the RPE from miR-211−/− mice that show severely compromised vision. Pharmacological restoration of lysosomal biogenesis through Ezrin inhibition rescued the miR-211−/− phenotype, pointing to a new therapeutic target to counteract retinal degeneration associated with lysosomal dysfunction.mixedNaso F.; Intartaglia D.; Falanga D.; Soldati C.; Polishchuk E.; Giamundo G.; Tiberi P.; Marrocco E.; Scudieri P.; Di Malta C.; Trapani I.; Nusco E.; Salierno F.G.; Surace E.M.; Galietta L.J.V.; Banfi S.; Auricchio A.; Ballabio A.; Medina D.L.; Conte I.Naso, F.; Intartaglia, D.; Falanga, D.; Soldati, C.; Polishchuk, E.; Giamundo, G.; Tiberi, P.; Marrocco, E.; Scudieri, P.; Di Malta, C.; Trapani, I.; Nusco, E.; Salierno, F. G.; Surace, E. M.; Galietta, L. J. V.; Banfi, S.; Auricchio, A.; Ballabio, A.; Medina, D. L.; Conte, I

E-consensus on telemedicine in proctology: A RAND/UCLA-modified study

Background: Coronavirus disease 2019 is revolutionizing healthcare delivery. The aim of this study was to reach a consensus among experts as to the possible applications of telemedicine in the proctologic field. Methods: A group of 55 clinical practice recommendations was developed by a clinical guidance group based on coalescence of evidence and expert opinion. The Telemedicine in Proctology Italian Working Group included 47 Italian Society of Colorectal Surgery nominated experts evaluating the appropriateness of each clinical practice recommendations based on published RAND/UCLA methodology in 2 rounds. Results: Stakeholder median age was 53 years (interquartile range limits 40-60), and 38 (81%) were men. Nine (19%) panelists reported no experience with telemedicine before the pandemic. Agreement was obtained on a minimum of 3 to 5 years of practice in the proctologic field before starting teleconsultations, which should be regularly paid, with advice and prescriptions incorporated into a formal report sent to the patient by e-mail along with a receipt. Of the panelists, 35 of 47 (74%) agreed that teleconsultation carries the risk of misdiagnosis of cancer, thus recommending an in-person assessment before scheduling any surgery. Fifteen additional clinical practice recommendations were re-elaborated in the second round and assessed by 44 of 47 (93.6%) panelists. The application of telemedicine for the diagnosis of common proctologic conditions (eg, hemorrhoidal disease, anal abscess and fistula, anal condylomas, and anal fissure) and functional pelvic floor disorders was generally considered inappropriate. Teleconsultation was instead deemed appropriate for the diagnosis and management of pilonidal disease. Conclusion: This e-consensus revealed the boundaries of telemedicine in Italy. Standardization of infrastructures, logistics, and legality remain to be better elucidated