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In this study we tested the hypothesis that pharmacological modulation of glutamatergic neurotransmission could rescue behavioral deficits exhibited by mice carrying a specific mutation in the Iqsec2 gene. The IQSEC2 protein plays a key role in glutamatergic synapses and mutations in the IQSEC2 gene are a frequent cause of neurodevelopmental disorders. We have recently reported on the molecular pathophysiology of one such mutation A350V and demonstrated that this mutation downregulates AMPA type glutamatergic receptors (AMPAR) in A350V mice. Here we sought to identify behavioral deficits in A350V mice and hypothesized that we could rescue these deficits by PF-4778574, a positive AMPAR modulator. Using a battery of social behavioral tasks, we found that A350V Iqsec2 mice exhibit specific deficits in sex preference and emotional state preference behaviors as well as in vocalizations when encountering a female mouse. The social discrimination deficits, but not the impaired vocalization, were rescued with a single dose of PF-4778574. We conclude that social behavior deficits associated with the A350V Iqsec2 mutation may be rescued by enhancing AMPAR mediated synaptic transmission.

Unlabelled: There is significant variation in diagnostic testing and treatment for inflammatory bowel disease. Quality improvement science methods can help address unwarranted variations in care and outcomes., Methods: The ImproveCareNow Network was established under the sponsorship of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the American Board of Pediatrics as a prototype for a model of improving subspecialty care that included three components: 1) creating enduring multicenter collaborative networks of pediatric subspecialists, 2) sharing of performance data collected in patient registries, and 3) training in quality improvement. The network began with a focus on improving initial diagnostic testing and evaluation, the classification of the severity and extent of disease, the detection and treatment of inadequate nutrition and growth, and the appropriate dosing of immunomodulator medications. Changes are based on an evidence-based model of chronic illness care involving the use of patient registries for population management, previsit planning, decision support, promoting self-management, and auditing of care processes., Results: Currently, patients are being enrolled at 23 sites. Through 2009, data have been analyzed on over 2500 patients from over 7500 visits. Initial results suggest improvements in both care processes (e.g., appropriate medication dosing and completion of a classification bundle that includes the patient's diagnosis, disease activity, distribution and phenotype, growth status, and nutrition status) and outcomes (e.g., the percentage of patients in remission)., Conclusions: These improvements suggest that practice sites are learning how to apply quality improvement methods to improve the care of patients., (Copyright © 2010 Crohn's & Colitis Foundation of America, Inc.)

A 7-year-old boy was seen for severe abdominal pain, vomiting, and a 2.0-kg weight loss of 2 weeks duration. Stools were Hemoccult positive. Upper gastrointestinal (UGI) endoscopy showed multiple, raised red lesions in the duodenal bulb and descending duodenum. Although the patient did not have the typical cutaneous eruption, other findings such as acute onset of abdominal pain in a previously healthy boy, absence of infectious or surgical lesions, and more importantly endoscopic changes seen typically in the descending duodenum, led to the likely diagnosis of Henoch-Schönlein purpura (HSP). The patient was treated with prednisone and the duodenal lesions resolved. The diagnosis of HSP was confirmed 24 weeks after the initial symptom when he developed a palpable purpuric rash over both legs. Thirteen months following the initial symptoms and 6 months after the onset of rash, severe abdominal pain with epigastric tenderness recurred and stools were Hemoccult positive. UGI endoscopy showed multiple, raised red lesions in the descending duodenum as seen earlier. The patient was diagnosed with recurrent HSP. This presentation is atypical because of the abnormally long interval between the onset of abdominal pain and the appearance of the skin rash, and unique because of the endoscopically demonstrated recurrent gastrointestinal lesions.

A 43-yr-old woman developed carcinoma of the ampulla of Vater 20 yr after being successfully treated for Hodgkin's disease with radiotherapy and chemotherapy. Conditions related to the chronic effect of radiation, such as narrowing and fibrosis of abdominal tissue, hampered her diagnosis and treatment. After a total pancreatectomy to remove the carcinoma, the patient recovered. However, 15 months later, she developed severe digestive disturbances, adrenal insufficiency, pulmonary emboli, and vasculitis. She died the next month of sepsis and adult respiratory distress syndrome. Although her complications probably were related to residual effects from therapy and surgery, she had no clinical evidence of tumor recurrence.

A 16-year-old male with profound developmental disability acutely developed retching, irritability, and abdominal distension. He had undergone a fundoplication and placement of a feeding gastrostomy 6 months earlier. A button gastrostomy tube was subsequently placed, but was noted to be missing from the stoma when the patient was awakened by his mother one morning. Within 48 hours he developed signs of abdominal obstruction. Abdominal radiography confirmed the presence of the gastrostomy button at the ileocecal valve. After a trial of decompression and medical management failed, the button was successfully removed endoscopically, resulting in prompt resolution of the obstruction. Gastrostomy buttons are a newer alternative to conventional catheters, but can become dislodged and migrate, as illustrated by this case. Refinements in the outer wing design may be needed.

A patient with plasma cell leukemia and myelofibrosis excreted free immunoglobulin light chains and an abnormal monoclonal immunoglobulin (Ig) A in her urine. The IgA that was present in serum and urine had a sedimentation coefficient of 4.0 S. The molecule was comprised of both heavy and light chains but was antigenically deficient compared to normal IgA. As excreted in the urine, the protein appeared to be a half-molecule of IgA, with a partial deletion in the heavy chain, probably involving part or all of the C-terminal domain.

Salmonella species have been detected in nine food varieties by use of fluorescent antibodies without false-positive or false-negative results. Test antisera were specially prepared, commercially available, conjugated polyvalent O globulin absorbed with cultures of Escherichia coli and Citrobacter freundii, and polyvalent phase II H globulin antibodies. Use of this technique permits a decrease of 24 hr in time normally required for Salmonella detection when compared with cultural Salmonella recovery methods.