Acute pancreatitis secondary to non-functioning pancreatic neuroendocrine tumor: uncommon clinical presentation. Clinical case and review of literature

I tumori neuroendocrini del pancreas (PNET) sono rari, e rappresentano <5% di tutte le neoplasie pancreatiche, suddivisi in PNET funzionanti con secrezione ormonale responsabile di sintomi specifici e PNET non funzionanti (nf-PNET) generalmente di diagnosi tardiva per la comparsa di metastasi o manifestazioni cliniche per effetti compressivi. L’approccio chirurgico è il trattamento di scelta per PNETs funzionanti, non-funzionanti di diametro superiore a 2 cm o sintomatici per disturbi da compressione. Osservazione personale. Donna di 76 anni ricoverata presso la UOC-Università-Chirurgia Ospedale “A. Fiorini” di Terracina per nausea e dolore ai quadranti addominali superiori con irradiazione dorso-lombare, insorti dopo un pasto serale. Dopo gli esami ematochimici e le indagini strumentali, è stata fatta la diagnosi di pancreatite acuta severa. Gli US convenzionali, CCT, CE-MRI ed EUS hanno mostrato una lesione di 2,8 cm di diametro nella giunzione testa-corpo del pancreas. L’esame citologico FNA non ha rilevato la presenza di cellule pancreatiche atipiche. La scintigrafia total body con Octreoscan® ha documentato un’area di ipercaptazione patologica situata in corrispondenza della neoformazione. La paziente è stata sottoposta a spleno-pancreasectomia corpo-coda. L’esame istologico ha dimostrato un nf-PNET di grado intermedio (G2) stenosante il vena lienale e stenosante il dotto di Wirsung, con pancreatite perilesionale. L’immunoistochimica ha mostrato un immunofenotipo positivo per CAM5.2, sinaptofisina (> 95%) e cromogranina (60%), con espressione di somatostatina intratumorale negativa. CONCLUSIONE: Sebbene raramente un nf-PNETS può essere la causa di grave pancreatite acuta non biliare da compressione del sistema duttale pancreatico. Nei casi in cui la PET / CT68Ga non può essere eseguita, la scintigrafia total body con Octreoscan® rimane il metodo più utilizzato per la diagnosi dei PNET e l’identificazione delle eventuali lesioni extra-pancreatiche. La cromogranina e la sinaptofisina sono confermate come marcatori specifici del differenziamento neuroendocrino.BACKGROUND: Pancreatic neuroendocrine tumors (PNETs) are uncommon, representing <5% of all pancreatic neoplasms, divided into functioning PNETs with secreted hormone cause of specific symptoms, and non-functioning PNETs (nf- PNETs) characterized by delayed diagnosis with metastases and clinical manifestations of compressive effects. Surgical approach is recommended for functioning and nf-PNETs >2 cm in diameter. CASE REPORT: A 76-year-old woman was admitted to the UOC-University-Surgery Hospital "A. Fiorini" in Terracina for nausea and pain in the upper abdominal quadrants with dorso-lumbar irradiation, arising after the evening meal. After the haematochemistry tests and the instrumental investigations, the diagnosis of acute, severe halitiasic pancreatitis was made. Conventional US, CCT, CE-MRI and EUS showed a 2.8cm diameter lesion in the head-body junction of the pancreas. FNA-cytological examination did not found the presence of atypical pancreatic cells. Total-body scintigraphy with Octreoscan® documented a pathological hypercaptation area located in correspondence with the neoformation. The patient underwent a body-tail spleno-pancreatectomy. The histological examination showed an intermediate grade (G2) nf-PNET infiltrating the lienal vein and stenosing the Wirsung duct, with perilesional pancreatitis. Immunohistochemistry showed CAM 5.2, Synaptophysin (>95%) and Chromogranin (60%) positive immunophenotype, with negative intratumoral Somatostatin expression. CONCLUSION: Although rarely, nf-PNETS may be the cause of severe non-biliary acute pancreatitis from pancreatic ductal system compression. In cases where PET/CT68Ga cannot be performed, total-body scintigraphy with Octreoscan® remains the most widely used method for the diagnosis of PNETs and the identification of extra-pancreatic lesions. Chromogranin and Synaptophysin are confirmed as specific markers of neuroendocrine differentiation. KEY WORDS: Acute pancreatitis, Chromogranin, Pancreatic neuroendocrine tumor, Synaptophysin, Somatostatin

Does postoperative radiation therapy represent a contraindication to expander-implant based immediate breast reconstruction? An update 2012-2014

Post-mastectomy radiotherapy (PMRT) is well known in the plastic surgery community for having a negative impact on expander-implant based immediate breast reconstruction (IBBR), although recently some technical improvements allow better results. Very recent papers would suggest that there is no difference in postoperative complications in patients receiving post-mastectomy radiotherapy using modern techniques. However, study results are often biased by small groups of patients and by heterogeneity of radiotherapy timing, different surgical techniques and measured outcomes

Effect of high-pressure homogenization on droplet size distribution and rheological properties of ice cream mixes.

The effect of different homogenization pressures (15/3 MPa and 97/3 MPa) on fat globule size and distribution as well as on structure-property relationships of ice cream mixes was investigated. Dynamic light scattering, steady shear, and dynamic rheological analyses were performed on mixes with different fat contents (5 and 8%) and different aging times (4 and 20 h). The homogenization of ice cream mixes determined a change from bimodal to monomodal particle size distributions and a reduction in the mean particle diameter. Mean fat globule diameters were reduced at higher pressure, but the homogenization effect on size reduction was less marked with the highest fat content. The rheological behavior of mixes was influenced by both the dispersed and the continuous phases. Higher fat contents caused greater viscosity and dynamic moduli. The lower homogenization pressure (15/3 MPa) mainly affected the dispersed phase and resulted in a more pronounced viscosity reduction in the higher fat content mixes. High-pressure homogenization (97/3 MPa) greatly enhanced the viscoelastic properties and the apparent viscosity. Rheological results indicated that unhomogenized and 15/3 MPa homogenized mixes behaved as weak gels. The 97/3 MPa treatment led to stronger gels, perhaps as the overall result of a network rearrangement or interpenetrating network formation, and the fat globules were found to behave as interactive fillers. High-pressure homogenization determined the apparent viscosity of 5% fat to be comparable to that of 8% fat unhomogenized mix

Plasmonic optical fiber meta-tip for cancer biomarkers detection

Sensors based on Lab-On-Tip (LOT) technology, where suitably designed nanostructures are integrated onto the end face of an optical fiber, are of strategic importance especially in medicine and clinical diagnostics, where minia- turization and portability are key characteristics. To improve the performance of LOT biosensors, we proposed the integration of the optical fiber with plasmonic Metasurfaces (Optical fiber meta-tip, OFMT), sensibly enhancing the light-matter interaction. Here we report on the remarkable capabilities of plasmonic OFMTs to perform label-free detection of cancer biomarkers with improved performances with respect to state-of-the-art optical fiber senso

Sexual developmental disorders in pediatrics

Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family

Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study

Purpose: Higher grade aneuploidies (HGAs) of the male sex chromosomes are a rare genetic group of pathologies caused by nondisjunction meiotic events. The aim of this study was to evaluate the impact of early androgenic therapy on the testicular secretory hormone profile, and the pathophysiological implications. Patients and methods: In this cross-sectional study, 18 HGA subjects aged 6–8 years were recruited. They were divided into two groups, based on whether or not they had previously undergone testosterone therapy (group 1: 11 untreated subjects; group 2: 7 treated subjects). Serum FSH, LH, testosterone (T), inhibin B (INHB) and anti-Müllerian hormone (AMH) were determined, and auxological parameters were assessed. Five group 1 patients and four group 2 patients were treated with hCG (human chorionic gonadotropin) for inguinal cryptorchidism; their hormone profile and auxological parameters were assessed both pre- and post-hCG treatment. Results: Group 1 subjects showed significantly higher testicular volume and higher levels of AMH and INHB (p < 0.0001). Subjects who had undergone hCG therapy showed a significantly higher testicular volume, penis length (respectively, p = 0.008 and p = 0.0005 for group 1 and p = 0.04 and p = 0.001 for group 2) and T (p = 0.005 for group 1 and p = 0.004 for group 2). Conclusions: HGA patients undergoing early testosterone therapy show an earlier and persistent suppression of testicular secretory function. At this age, the testes are still responsive to stimulation with hCG. The selection of patients to be treated must be accompanied by a thorough clinical and hormonal evaluation

Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable

PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile

Purpose: Testicular germ cell tumours (TGCTs) is the most common malignancy among young adult males. The etiology is multifactorial and both environmental and genetic factors play an important role in the origin and development of TGCT. Genetic susceptibility may result from the interaction of multiple common and low-penetrance genetic variants and one of the main candidate genes is PDE11A. Many PDE11A polymorphisms were found responsible for a reduced PDE activity in TGCT patients, who often also display impaired hormone and sperm profile. The aim of this study was to investigate testicular function and PDE11A sequence in testicular cancer cases. Methods: Semen analysis was performed in 116 patients with unilateral and bilateral sporadic TGCTs and in 120 cancer-free controls. We also investigated hormone profile and PDE11A polymorphisms using peripheral blood samples. Results: Our data revealed that TGCT patients showed lower testosterone levels, higher gonadotropins levels and worse semen quality than controls, although the mean and the medians of sperm parameters are within the reference limits. PDE11A sequencing detected ten polymorphisms not yet associated with TGCTs before. Among these, G223A in homozygosity and A288G in heterozygosity were significantly associated with a lower risk of testicular tumour and they displayed a positive correlation with total sperm number. Conclusions: Our findings highlight the key role of PDE11A in testis and suggest the presence of an underlying complex and fine molecular mechanism which controls testis-specific gene expression and susceptibility to testicular cancer

Evaluation of the oncogenic risk of diffuse gastric polyposis. A case report

Benign polyps of the stomach undergo malignant transformation at a rate correlating to the histological type and size of the proliferative lesion. We report a case of a 50-year-old Caucasian woman, affected by a diffuse gastric polyposis of both hyperplastic and adenomatous type. At endoscopy polyps were more than 1,000, scattered over the entire gastric cavity. The patient underwent total gastrectomy. The perilesional gastric mucosa was characterized by the presence of either atrophic or metaplastic areas and by a mild dysplasia. A single tubulo-villous adenomatous polyp was also present in the ascending tract of the colon. The absence of both high-grade dysplastic lesions and outbreaks of neoplastic transformation well correlated with the histochemical and molecular features, confirming the highly proliferative pattern of the polyps in the lack of signs of malignant progression