Malignancy-associated allelic losses on the X-chromosome in foregut but not in midgut endocrine tumours

Information on genetic changes involved in the progression of gastroenteropancreatic (GEP) endocrine tumours is scanty. On the other hand, the identification of molecular markers of malignancy could be crucial for the prognostic evaluation of these neoplasms, which is hardly predictable on the basis of conventional histological criteria. An association of X-chromosome deletions with malignancy has already been found in gastric endocrine tumours. To investigate this further, a comparative loss of heterozygosity (LOH) analysis was performed on 17 pancreatic endocrine tumours (PETs) and 17 intestinal (ten ileal, six appendiceal, and one rectal) carcinoids from female patients. The relationship of X-chromosome LOH with the ploidy status of the neoplasms was also investigated. LOH was found in six of eight malignant PETs (60% of the informative markers), but was infrequent in the nine benign ones (4.5%). In contrast, although retention of heterozygosity was consistently observed in benign midgut tumours, LOH was infrequent in malignant carcinoids (15%). No correlation was found between LOH and the ploidy status. These results indicate an association between X-chromosome LOH and malignancy in foregut endocrine tumours. The lack of such an association in midgut carcinoids suggests that different molecular mechanisms are involved in the progression of these two categories of endocrine neoplasms, which are otherwise considered to be closely related. These findings emphasize the need for further molecular studies on GEP endocrine tumours, carefully subdivided according to their anatomical site of origin.     

DNA‐based immunotherapy: potential for treatment of chronic viral hepatitis?

Persistent HBV and HCV infection represent major causes of chronic liver disease with a high risk of progression to liver cirrhosis and hepatocellular carcinoma (HCC). Conventional protein-based vaccines are highly efficacious in preventing HBV infection; whereas in therapeutic settings with chronically infected patients, results have been disappointing. Prophylactic vaccination against HCV infection has not yet been achieved due to many impediments including frequent spontaneous mutations of the virus with escape from immune system control. Using animal models it has been demonstrated that DNA-based immunisation strategies may overcome this problem because of their potential to induce immunity against multiple viral epitopes. DNA-based vaccines mimic the effect of live attenuated viral vaccines, eliciting cell mediated immunity in addition to inducing humoral responses. Efficacy may further be improved by addition of DNA encoding immunomodulatory cytokines and more recently, direct genetic modulation of antigen-presenting cells, such as dendritic cells (DC), has been shown to increase antigen-specific immune responses. This review focuses on immunological aspects of chronic HBV and HCV infection and on the potential of DNA- and DC-based vaccines for the treatment of chronic viral hepatitis.     

Intracranial capillary hemangiomas: literature review in pediatric and adult population

Neurosurgical Review - Capillary hemangiomas (CHs) of the central nervous system represent a rare diagnosed pathology. CHs are benign vascular tumors whose most common manifestations are dermal and...     

Comparison between VII-to-VII and XII-to-VII coaptation techniques for early facial nerve reanimation after surgical intra-cranial injuries: a systematic review and pooled analysis of the functional outcomes

Neurosurgical Review - The surgical injury of the intracranial portion of the facial nerve (FN) is a severe complication of many skull base procedures, and it represents a relevant issue in terms...     

Peyronie’s disease may negatively impact the sexual experience of a couple and female sexual function: a single center study

BackgroundPeyonie’s disease (PD) mostly affects males in the fifth decade of life, with a prevalence in the general population ranging between 0.5% and 20.3%. The pathology of PD is characterized by fibrosis of the tunic albuginea of the cavernous bodies of the penis, with the presence of pain in the erection and penile deformity. This is associated with decreased sexual function for both participants. The objective of the study was to investigate the influence of PD pathology on both male patients’ and their female partners’ sexual spheres, and analyze changes in sexual function and perception following penile correction surgery.MethodsProspective study, we included male patients with PD and their female partner sexually active. Patients underwent corporoplasty with multiple plications. The male and female sexuality was evaluated before surgery and three months after male treatment by the Female sexual Function Index (FSFI); International Index of Erectile Function (IIEF); Visual Analogical Scale (VAS).ResultsFrom January 2018 to November 2019 we included 35 couple. The female subjects before partner’s surgery presented dyspareunia, loss of sexual desire, inability to achieve orgasm, and sexual dissatisfaction. At three months after surgical treatment there was an improvement of sexual function in both male patients and female partners (desire P<0.0001, arousal P<0.0001, lubrification P<0.0001, orgasm P<0.0001, satisfaction P<0.0001, pain P<0.0001). As regarding male patients the pain decreased significantly (VAS score from 6 to 2.5), while there was no statistically significant improvement in erectile function (P=0.05).ConclusionsOur findings suggest that a viable approach to treatment of PD patients that involves their partners could lead to better functional and psychological results.     

Ten-year survival of patients with cancer of the digestive tract in Umbria, Italy

Survival statistics of 4135 incident cases of digestive system cancers in the Umbria region of Italy are reported. The original data are derived from an ad hoc survey carried out in the period 1978--1982. Observed and relative rates at 1, 5 and 10 years are presented separately by sex and age (< 60 and 60 years). In both sexes there are very short survival rates for liver, bile duct and pancreas cancers, whereas about 50% of colon and rectum cancer patients survived at five years. About 20% stomach cancer patients survived at the same time. In males the survival rate for oesophagus cancer is close to 10%. The rates at ten years confirm the trend. Comparisons between sexes show that there is no significant differences in age at first diagnosis. Survival values are higher in females only for rectum cancers. In both sexes, for stomach, colon and rectum sites younger patients had a significantly longer survival than older ones.     

Relations of plasma fibrinogen level in children to measures of obesity, the (G-455-->A) mutation in the beta-fibrinogen promoter gene, and family history of ischemic heart disease: the Columbia University BioMarkers Study.

Higher plasma fibrinogen levels are associated with increased risk of myocardial infarction in adults, but little is known about factors that influence fibrinogen levels in childhood. The authors examined the associations of measures of obesity, presence of the (G-455-->A) allele in the beta-fibrinogen promoter gene, and family history of early onset of ischemic heart disease with plasma fibrinogen levels in children. Children (n = 299) were recruited during 1994-1997 from 276 families living in a racially mixed area of New York City. The mean age of the study children was 9.9 years; 79% were Hispanic. The frequency of the (G-455-->A) allele was lower in Hispanics than in non-Hispanic Whites (15.5% vs. 28.3% in children (p < 0.01) and 13.9% vs. 28.3% in parents (p < 0.001)). Graded relations of children's plasma fibrinogen levels were found with tertiles of body mass index (weight (kg)/height (m)2) and sum of skinfolds (tests for linear trend: p < 0.001). Plasma fibrinogen levels in the children were not related to race/ethnicity, presence of the (G-455-->A) allele, or family history. Multiple linear regression analyses adjusting plasma fibrinogen levels for age, sex, race/ethnicity, the (G-455-->A) allele, and family history of early onset of heart disease showed a significant association with either body mass index or sum of skinfolds (p < 0.001 for both models) but not with the other variables.     

Spontaneous Splenic Rupture in a Patient with Acute Lymphoblastic Leukemia of Burkitt Type

We describe a case of spontaneous splenic rupture occurred in a patient with acute lymphoblastic leukemia of Burkitt type before starting cytotoxic chemotherapy. Left hypochondrial pain radiating to the homolateral shoulder was the only clinical symptom. Emergency computed tomography showed splenic laceration and hemoperitoneum. The patient underwent immediate laparotomy with splenectomy and experienced an uneventful postoperative recovery. Eight days after surgery, chemotherapy could be administered and complete remission was achieved. Although spontaneous rupture of the spleen is rare in leukemia and related disorders, this diagnosis should be taken in account also when clinical symptoms are mild. Following immediate operative management, patients may completely recover and receive cytotoxic chemotherapy with substantial possibilities of achieving complete remission.     

Boerhaave syndrome. A case report and review of the literature

Spontaneous esophageal perforation (Boerhaave's syndrome) remains a difficult diagnostic and management problem with controversial recommendations regarding its treatment. The clinical manifestations of the disease are variable, and may be misleading, thus delaying accurate recognition. On the other hand, in view of the rapid onset of severe complications, particularly mediastinitis, a prompt diagnosis is essential to a better prognosis, successful operative outcome and potential survival. A case of spontaneous perforation of the thoracic esophagus penetrating the left pleural space treated within 4 hours from admission to the Emergency Room, with minimal surgical intervention is presented. Despite negative chest X-ray, a thoracic TC showed a small right sided effusion with left sided hydropneumothorax, and the definitive diagnosis was obtained by contrast study with a water soluble medium which showed the leak communicating freely with the left pleural space. The patient underwent repair by thoracic approach, the rupture was closed with a primary suture without flap reinforcement and the pleural space drained with the placement of single chest thoracostomy tube. The recovery was uneventful. The analysis of this case report and of the appropriate literature reveals that a poor prognosis is correlated with the time elapsed between the perforation and treatment. In conclusion the importance of an early aggressive surgical treatment for the Boerhaave's syndrome is emphasized, because any perforation treated more than 24 hours after the onset of symptoms, irrespective of the procedure used, is associated with a significantly higher morbility and mortality.     

Predictors of Alcohol Dependence Relapse During Recurrence of Major Depression

This study sought to determine clinical predictors of alcohol relapse during recurrence of major depression. The total sample included 2,820 adults with a history of alcohol dependence who had a comorbid current episode of major depression. Twenty-six percent had a relapse of alcohol dependence. Relapsers were more likely to be male, single, less educated, and younger than non-relapsers. Early onset alcohol dependence and past year drug use disorder significantly increased the likelihood of relapse. Early onset substance use dependence is a more powerful predictor of alcohol relapse than early onset major depression.