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Highlights • Obstructive jaundice may be a challenge for differential diagnosis. • Mirizzi Syndrome may simulate clinical and radiological presentation of common bile duct stones. • ERCP hardly achieves cannulation of biliary duct in altered anatomy, so gastroscope may be a correct choice in these cases. • Surgical treatment is essential in Mirizzi Syndrome., Introduction Mirizzi Syndrome (MS) is a common bile duct (CBD) obstruction caused by extrinsic compression from an impacted stone in the cystic duct or infundibulum of the gallbladder. Radiological evaluation may mistake it for CBD stones in jaundiced patient, especially in those who have altered anatomy of upper gastrointestinal (e.g. sub-total gastrectomy – STG – with Billroth I or II anastomosis). Presentation of case A 69-year-old male with a history of STG Billroth-II 25 years prior, accessed hospital for abdominal pain and jaundice with increasing in hepatic laboratory tests. Ultrasound of abdomen, CT scan and MRCP diagnosed CBD stones, so endoscopic retrograde cholangiopancreatography (ERCP) was performed, using a gastroscope to reach papillary region and to achieve cannulation of biliary duct. During cholangiography patient resulted affected by Mirizzi syndrome type I, so laparoscopic cholecystectomy was performed and cystic duct was moved away. Discussion This rare case shows how it’s easy to delay the correct treatment when a wrong radiological diagnosis is made. Moreover, ERCP remains a challenging procedure in patients with altered anatomy, such as STG B–II, and in this case gastroscope was needed for cannulation, due to the need of frontal view. Conclusion This rare case report highlights the importance of not forgetting MS in the differential diagnosis of biliary obstruction, especially in those patients with upper GI altered anatomy. Physicians with expertise in ERCP should always consider altered anatomy as a factor which may confuse radiologist in diagnosis, so in this case MS may be discovered or confirmed at ERCP.

Mirizzi syndrome (MS) is a common bile duct (CBD) obstruction caused by extrinsic compression from an impacted stone in the cystic duct or infundibulum of the gallbladder. Patients affected by MS may present abdominal pain and jaundice. A 37-year-old male with neurologic residuals post-encephalitis arrived at the emergency department reporting abdominal pain, jaundice and fever. An ultrasound of the abdomen identified cholecystolithiasis with a dilated CBD. He did not undergo CT or MRI due to poor compliance and parents’ disagreement. Eventually, they accepted to perform endoscopic retrograde cholangiopancreatography, which diagnosed MS with both cholecystobiliary and cholecystocolonic fistula without gallstone ileum (type Va). Therefore, patient underwent cholecystectomy, wedge resection of the colon and choledochoplasty with ‘Kehr's T-tube’ insertion. A plastic biliary stent was successively placed and removed after 4 month. Ultimately, he did neither complain any other biliary symptoms nor alteration in laboratory tests after 4-years of follow-up.

Chronic anal fissure’s (CAF) etiopathogenesis remain unclear. CAF of the posterior commissure (CAPF) are often characterized by internal anal sphincter (IAS) hypertonia. The treatment of this disease aimed to reduce IAS hypertonia. Due to the high rate of anal incontinence after LIS, the employment of sphincter preserving surgical techniques associated to pharmacological sphincterotomy appears more sensible. The aim of our study is to evaluate the long-term results of fissurectomy and anoplasty with V–Y cutaneous flap advancement associated to 30 UI of botulinum toxin injection for CAPF with IAS hypertonia. We enrolled 45 patients undergone to fissurectomy and anoplasty with V–Y cutaneous flap advancement and 30 UI botulinum toxin injection. All patients were followed up for at least 5 years after the surgical procedure, with evaluation of anal continence, recurrence rate and MRP (Maximum resting pressure), MSP (Maximum restricting pressure), USWA (Ultrasound wave activity). All patients healed within 40 days after surgery. We observed 3 “de novo” post-operative anal incontinence cases, temporary and minor; the pre-operative ones have only temporary worsened after surgery. We reported 3 cases of recurrences, within 2 years from surgery, all healed after conservative medical therapy. At 5 year follow-up post-operative manometric findings were similar to those of healthy subjects. At 5 years after the surgical procedure, we achieved good results, and these evidences show that surgical section of the IAS is not at all necessary for the healing process of the CAPF.

The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy demand than rods. A cohort of twenty-two patients with genetically-defined mitochondrial diseases (MDs) were enrolled to determine if the macula is functionally and anatomically impaired in these metabolic disorders. Visual acuity and fERG amplitude of patients with primary mitochondrial dysfunction were reduced compared to controls. Furthermore, SD-OCT layer segmentation showed a reduction of retinal and outer nuclear layer (ONL) volume in the macula of the patients. fERG amplitude showed a positive correlation with both ONL volume and thickness. A negative relationship was noted between fERG amplitude and disease severity assessed with Newcastle Mitochondrial Disease Adult Scale. In conclusion, MDs are associated with functional and anatomical alteration of macular cone system, characterized by its strong correlation with clinical disease severity suggesting a role as a potential biomarker of primary mitochondrial disorders.

PURPOSE The role of augmented internal anal sphincter (IAS) tone in the genesis of posterior chronic anal fissure (CAPF) is still unknown. Lateral internal sphincterotomy is the most employed surgical procedure, nevertheless it is burdened by high risk post-operative anal incontinence. The aim of our study is to evaluate results of sphincter saving procedure with post-operative pharmacological sphincterotomy for patients affected by CAPF with IAS hypertonia. Methods: We enrolled 30 patients, undergone fissurectomy and anoplasty with V-Y cutaneous flap advancement; all patients received topical administration of nifedipine 0.3% and lidocaine 1.5% ointment-based therapy before and for 15 days after surgery. The primary goal was patient's complete healing and the evaluation of incontinence and recurrence rate; the secondary goal included the evaluation of manometry parameters, symptom relief and complications related to nifedipine and lidocaine administration. Results: All wounds healed within 40 days after surgery. We didn't observe any de novo postoperative anal incontinence case. We reported 2 cases of recurrences, healed after conservative therapy. We didn't report any local complications related to the administration of the ointment therapy; with whom all patients reported a good compliance. Conclusions: Fissurectomy and anoplasty with V-Y cutaneous advancement flap and topical administration of nifedipine and lidocaine, is an effective treatment for CAPF with IAS hypertonia.

Background: Development of seroma after incisional hernia repair is a common complication. Our study aims to compare the outcomes of sublay incisional hernia repairs with or without spray instillation of fibrin glue. Methods: We enrolled fifty patients undergoing incisional hernia repair. In all patients a suction drain was placed in the subcutaneous space. In one group (FG) 4 ml fibrin glue was instilled in the subcutaneous space. In the control group (C) patients did not receive any prevention measure. Wounds fluids were collected on post-operative day 1 (POD) and once daily until drain removal. All patients were followed up by ultrasound on POD 15, 20, 40, 60. Results: Drain fluid production, even if in significantly greater amount in the C group (p 0.01) as compared with the FG group, decreased after POD 1 in both groups. Drain was removed on POD-5 in 80% of FG patients and in 36% of C patients (p 0.01). No infective or bleeding complications were detected. In group FG average hospital stay was of 5.5 ÃÂ+- 2 days versus 7.1 +- 1.5 days in group C (p 0.01). At ultrasounds examination, seroma development was similar among two groups. Conclusions: Spray instillation of fibrin glue during the surgical repair reduces amount of drained fluid and hospital stay without increasing surgical complications. However, seroma occurrence was not significantly reduced.

Inherited retinal degenerations (IRDs) are an untreatable cause of blindness due to photoreceptor apoptosis. Blocking apoptosis by exogenous neurotrophic factor administration is a promising therapeutic strategy in IRDs. The neurotrophin (NT) family are a group of peptide growth factors homologous to nerve growth factor that regulate the development, differentiation, survival, and function of neuronal cells. This mini-review summarizes the preclinical evidence for neuroprotection of photoreceptors by NTs and explores the molecular pathways responsible for this protective effect. Studies published in the literature over the past 20 years that report on the effect of NTs on apoptotic photoreceptor death in IRDs and light-induced retinal degeneration, and the cellular pathways involved, are reviewed. Preclinical evidence suggests that exogenous NT administration may be protective against photoreceptor apoptosis. Each NT exerts a neuroprotective effect on photoreceptors that is specific depending upon the model of retinal degeneration and the delivery system. Signaling pathways and retinal cells mediating this effect are still uncertain. Alternatively, different NTs may protect or damage photoreceptors depending on the expression pattern of high- and low-affinity NT receptors on the retinal cells. Although there is evidence that NTs may exert a protective effect, most likely indirectly on photoreceptor cell apoptotic degeneration in IRDs, the precise cellular and molecular mechanisms underlying this effect are still largely unknown. Better understanding of these mechanisms may greatly improve the rationale and efficacy of NT strategy for treatment of IRDs.

BACKGROUND: Preclinical trials have shown beneficial effects of nerve growth factor (NGF) administration on visual function in animal models of retinitis pigmentosa (RP). The aim of this pilot study was to explore the potential efficacy of short term NGF eye drops treatment in patients affected by RP. METHODS: The trial consisted in 10 days daily administration of murine NGF as eye-drops for a total dose of 1 mg NGF/pt. Eight RP patients at an advanced stage of the disease were included in the trial. To monitor safety and potential adverse effects subjects underwent standard clinical measures and were requested to report any general or topic alterations following NGF assumption. Retinal function was assessed at baseline and after treatment by best-corrected visual acuity measurement (BCVA), macular focal electroretinogram (fERG) recording and Goldmann visual field testing. RESULTS: A transient tolerable local corneal irritation was the only adverse effect reported. fERG and BCVA remained within the limits determined by test-retest analysis of a large cohort of RP patients. Three patients reported a subjective feeling of improved visual performance. This was associated to a temporary enlargement of the visual field in all three patients and to improved fERG in two of the three. CONCLUSIONS: Short-term administration of NGF eye-drops caused neither significant adverse effects nor visual function losses in the tested RP patients. A minority of patients experienced an improvement of visual performance as shown by Goldmann visual field and fERG. This study supports the safety and possible efficacy of NGF eye-drops administration in RP patients. TRIAL REGISTRATION: EudraCT n. 2008-004561-26.

The online version of the original article can be found under doi:10.1186/s12967-015-0750-3.