Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice.

SHANK3 (also called PROSAP2) genetic haploinsufficiency is thought to be the major cause of neuropsychiatric symptoms in Phelan-McDermid syndrome (PMS). PMS is a rare genetic disorder that causes a severe form of intellectual disability (ID), expressive language delays and other autistic features. Furthermore, a significant number of SHANK3 mutations have been identified in patients with autism spectrum disorders (ASD), and SHANK3 truncating mutations are associated with moderate to profound ID. The Shank3 protein is a scaffold protein that is located in the postsynaptic density (PSD) of excitatory synapses and is crucial for synapse development and plasticity. In this study, we investigated the molecular mechanisms associated with the ASD-like behaviors observed in Shank3Δ11-/- mice, in which exon 11 has been deleted. Our results indicate that Shank3 is essential to mediating metabotropic glutamate receptor 5 (mGlu5)-receptor signaling by recruiting Homer1b/c to the PSD, specifically in the striatum and cortex. Moreover, augmenting mGlu5-receptor activity by administering 3-Cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide ameliorated the functional and behavioral defects that were observed in Shank3Δ11-/- mice, suggesting that pharmaceutical treatments that increase mGlu5 activity may represent a new approach for treating patients that are affected by PMS and SHANK3 mutations.

A case of long-undiagnosed common Primary Immunodeficiency in adulthood.

Common Variable Immunodeficiency (CVID) is one of the most common causes of Primary Immunodeficiency Disorders (PIDs) and of Primary Hypogammaglobulinemia in adulthood. Clinical features include variable combinations of infectious diseases, autoimmune diseases, lymphoproliferative disorders and gastrointestinal diseases. In this case report, delayed detection of the disease had a negative prognostic impact, despite prompt antibiotic and replacement therapy. The unfavourable prognosis was due to multi-organ failure (namely lungs, heart and liver) and to a number of chronic and acute infectious diseases.

Massive ovarian edema in a prepubertal girl without signs of virilization or early puberty.

Massive ovarian edema is a rare cause of ovarian enlargement in young women. This article describes the case in a nine-year-old girl without signs of virilization or early puberty. The patient underwent laparotomy and a right oophorectomy was performed. The final pathology was massive ovarian edema. Awareness of this rare and benign lesion in young women and pediatric patients may allow a conservative management avoiding oophorectomy in some cases.

Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up.

Pneumonectomy is a rare procedure in pediatric age. In contrast to adults, children that undergo this intervention are prone to postoperative mediastinal shift, which leads to bronchial stretching resulting in severe respiratory failure. This postpneumonectomy syndrome can be corrected by inserting a prosthesis in the empty side of the chest. The authors present the case of a 9-month-old infant affected with a pleuropulmonary blastoma who underwent left pneumonectomy and prosthesis placement in the same operation.

Combined endoscopic treatment for cholelithiasis associated with choledocholithiasis.

BACKGROUND: The advent of endoscopic techniques changed surgery in many ways. For the management of cholelithiasis, laparoscopic cholecystectomy (LC) is the treatment of choice. This has created a dilemma in the management of choledocholithiasis. Today a number of option exist, including endoscopic sphinterotomy (ES) before LC in patients with suspected common bile duct (CBD) stones, laparoscopic bile duct exploration, open CBD exploration, and postoperative endoscopic retrograde cholangiopancreatography (ERCP). Also, the alternative technique of peroperative ES is emerging. METHODS: We report our experience of routine intraoperative cholangiography followed either by peroperative ERCP in one step or by transcystic drain and postoperative ERCP. In our technique, to facilitate Vater papilla cannulation we inserted a 450-cm transcystic guidewire that was caught by a duodenoscope. Papillotome was then inserted over the guidewire to ensure cannulation of the CBD. RESULTS: Twenty-eight patients were treated successfully in one step and 24 in two steps. The mean operative time was 181 +/- 41 min for patients treated in one step and 131 +/- 30 min for patients treated in two steps. The mean hospital stay was 4.8 +/- 3.3 days for patients treated in one step and 9.6 +/- 4.0 days for patients treated in two steps. Five patients (18%) with positive intraoperative cholangiography for stones for whom peroperative ERCP was not available showed a normal postoperative transcystic cholangiogram and therefore ERCP was canceled. Fourteen of 25 patients treated in one step and none of 17 treated in two steps had raised serum amylase, which resolved spontaneously with no symptoms. No patient developed postoperative pancreatitis. Three (10%) ERCP complications were observed, consisting of mild bleeding of the papilla. All cases were managed by endoscopic adrenaline injection. There was no mortality. CONCLUSION: We believe peroperative ERCP with the technique described should be considered as the treatment of choice for choledocholithiasis associated with cholelithiasis. When single-stage treatment is not possible, a two-step rendezvous technique should be preferred.

Laparoscopic billroth II gastrectomy for completely stricturing duodenal ulcer: technical details.

BACKGROUND: The authors report a series of three patients who underwent laparoscopic gastrectomy for gastric outlet obstruction due to stricturing duodenal ulcer. MATERIALS AND METHODS: In all cases an intracorporeal resection of the antrum and an antecolic end to side gastrojejunostomy (Billroth II) were performed. Technical details are discussed in the paper. RESULTS: Mean operative time was 260 minutes, mean blood loss was 43 millilitres. There were no postoperative complications and all patients were discharged on the fifth postoperative day. A follow up of three years shows that no patient had recurrence and post-gastrectomy syndromes. CONCLUSIONS: Laparoscopic Billroth II gastrectomy is a safe and feasible procedure with benefits such as quick hospital stay, decreased postoperative pain, good cosmesis and reduced morbidity.

[An uncommon complication: cryptorchidism in an adult]. / Una complicanza particolare: criptorchidismo nell'adulto.

This unusual pathology has not been described in the medical literature of the last ten years. A 39-year-old patient, affected by unilateral cryptorchidism, on the right side, and congenital inguinal hernia, reached the operating theatre suffering from occlusive intestinal syndrome, due to a clogged hernial sac. This clog was caused by a retracting testicle which in turn stopped the ileal ansa from slipping back in to the peritoneum. Through this case we can underline the excursus of such pathology, which isn't very frequent in the adult but can, nevertheless create a fairly serious pathology, often leading to neoplan.

[Preoperative colonic lavage and one-stage excision-anastomosis in obstruction of the left colon]. / Le lavage colique per-opératoire et la résection-anastomose en un temps dans l'obstruction du côlon gauche.

In a retrospective series of 95 patients requiring emergency surgery for distal colonic obstruction, primary bowel resection followed by immediate anastomosis after intraoperative colonic irrigation was performed. Carcinoma was the cause of obstruction in 81 cases (85%); 13 patients had diverticulitis, and 1 had sigmoid volvulus. The technique of on-table lavage was similar to that described by Dudley in 1980: a caecostomy tube was used in 86 patients (90%) and was removed on the tenth postoperative day. 4 patients died, none from complications of anastomotic leakage. There were three anastomotic leakages (3.1%) and 10 radiologic leaks were observed. 3 patients were reoperated. The mean hospital stay was 23 days. The results of this study suggest that intraoperative colonic irrigation is an effective method, enabling the surgeon to perform primary anastomosis with reasonable safety after emergency resection of selected distal colonic lesions.

[Defecography and manometry in the postoperative follow-up of patients treated with colo-anal anastomosis by the Parks technique for neoplasm stenosis of the rectum]. / Defecografia e manometria nel follow-up postoperatorio di pazienti sottoposti a colo-ano anastomosi secondo Parks per stenosi neoplastica del retto.

The Authors report 15 cases of patients with adenocarcinoma of the rectum who were treated using Park's resection. Morphofunctional parameters are evaluated 3 months after surgery using defecography and manometry before the closure of the neostoma and the reactivation of the ano-rectal canal. Opaque defecography enables the morphology and dimensions of the anal canal to be examined together with modifications to the area between the rectum and the anal canal, and the impression of the pubo-rectal sling. In conclusion these data confirm the importance of surgery, whereas the correlation between defecographic and manometric results allows the functional recovery "ad integrum" of the area to be checked.

Effect of combined use of intravenous salbutamol and aminophylline on cardiac rhythm in chronic obstructive lung disease.

The effect on cardiac rhythm of intravenous administration of salbutamol during prolonged aminophylline infusion was evaluated by means of ECG Holter monitoring in 20 patients with chronic obstructive lung disease (COLD) without respiratory failure. Data were compared with a baseline 24-hour Holter monitoring during which an individual arrhythmia pattern was established for each patient. Intravenous administration of aminophylline with fast achievement of therapeutic plasma levels, has a variable and nonsignificant influence on supraventricular arrhythmias, whilst a statistically significant increase of premature ventricular contractions (PVCs) has been observed. However, such an increase concerns only isolated PVCs, is conditioned by the pattern of preexisting arrhythmias and is independent of plasma aminophylline level. Acute intravenous administration of salbutamol during infusion of aminophylline is not associated with a higher incidence of major arrhythmias. So we conclude that such a pharmacological combination does not represent an additional risk of serious cardiac rhythm disturbances in a selected population of COLD patients without further known arrhythmogenic risk factors. Moreover, plasma aminophylline levels are not predictive of a possible higher incidence of ventricular arrhythmias.