Embryonal rhabdomyosarcoma of the ampulla of vater with long-term survival following pancreaticoduodenectomy

Rhabdomyosarcoma of the biliary tree is a rare cause of biliary tract obstruction in childhood. A 3-year-old child is reported here after presenting with obstructive jaundice secondary to an embryonal rhabdomyosarcoma of the ampulla of Vater. He underwent pancreaticoduodenectomy followed by adjuvant chemotherapy and irradiation. He is now well and free of disease 5 years following treatment. This child appears to be the first long-term survivor who has required pancreaticoduodenal resection for this lesion.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/28946/1/0000783.pd

Stroke genetics informs drug discovery and risk prediction across ancestries

Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries

Complications in pediatric surgery

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Renal arteriovenous aneurysm in a 4-year-old patient

We report a case of a symptomatic renal arteriovenous aneurysm in a 4-year-old pediatric patient. We were able to diagnose the lesion by means of a Doppler renal sonogram with color duplex interrogation. The diagnosis was confirmed by digital subtraction angiography. On the basis of the angiographic findings, the aneurysm was resected, and the renal arteriovenous fistula was repaired

Successful non-operative management of a contained tracheal tear following iatrogenic endotracheal tube injury

We describe the case of a 5-year-old girl who was intubated in the field and sustained a severe tracheal injury resulting in a pneumothorax and extensive subcutaneous emphysema. She was treated without operative intervention and this tracheal tear was observed by serial bronchoscopy. After 6 weeks the trachea was well healed; in select cases non-operative management is a safe and effective strategy for contained tracheal injuries

Complications in: Pediatric surgery

© 2009 by Informa Healthcare USA, Inc. Addressing the need of pediatricians and pediatric surgeons for a one-stop, comprehensive text on pediatric surgery, Complications in Pediatric Surgery covers each case a physician may encounter upon treating the pediatric surgical patient, from fetus to adolescent. Complications in Pediatric Surgery provides separate and concise chapters, each of which concentrates on a specific area of the body. The chapters highlight common surgical errors and complications, as well as the approaches and techniques to be used in the face of such complications. Including key expert opinions in each section, this text explores following therapeutic areas: • head and neck surgery • thoracic and chest wall surgery • extracorporeal life support • fetal surgery • abdominal wall and hernia surgery • intestinal and vascular access • esophageal surgery • stomach, duodenum, and small intestine • colon and anorectal surgery • appendicitis • hepatobiliary surgery • surgery of the spleen • oncologic surgery • laparoscopic and thorascopic surgery • pediatric trauma • transplantation • urologic surgery

Laparoscopically assisted colon resection for severe idiopathic constipation with megarectosigmoid

Purpose and Background: In a subset of patients with severe idiopathic constipation who require massive amounts of laxatives, overflow pseudoincontinence may develop. In some of these cases, a megarectosigmoid develops while the rest of the bowel remains of normal caliber. These patients may benefit from resection of the dilated colonic segment. Patients and Methods: During a 5-year period, 164 patients were referred for the evaluation of severe constipation. Ninety-three patients had idiopathic constipation, 41 had Hirschsprung disease, and 30 had previously undergone anorectal malformation repair. Among those with idiopathic constipation, five required massive amounts of laxatives for bowel management and also had megarectosigmoid on contrast enema. All patients were first managed with a strict bowel management regimen. They all were continent, but to remain clean, they required massive amounts of laxatives. A laparoscopic sigmoid resection was offered to five patients with constipation refractory to optimal medical management. Our goal was to reduce the therapeutic laxative requirements and improve their quality of life. Results: All five patients presented with incontinence and required fecal disimpaction. With an aggressive bowel management regimen, all were in fact found to have overflow pseudoincontinence, and with high doses of laxatives, they were continent and able to have daily bowel movements. All five patients had a dilated megarectosigmoid, whereas the rest of the colon was of normal caliber. They underwent laparoscopically assisted sigmoid resection. Postoperatively, the laxative requirements of all patients were significantly reduced. All are continent and have daily bowel movements. Conclusion: Laparoscopically assisted sigmoid resection is an ideal approach for the management of intractable idiopathic constipation in a select group of patients

Miniature access chait cecostomy: A new approach to the management of fecal incontinence

The antegrade continence enema is a well-established procedure in the management of children with fecal incontinence. Chait and Shandling described the percutaneous approach for the management of these children. This procedure eliminates the need for an operation, can be performed under sedation and local anesthesia, and is clinically effective with minimal morbidity. However, it entails several important disadvantages. First, it is a blind procedure. Second, the cecum is not secured to the abdominal wall. Third, the procedure requires a skilled interventional radiologist. And fourth, it must be performed in two stages. We chose to alter the procedure by using a miniature access surgical approach. Miniature access Chait cecostomy was performed in four children with fecal incontinence. Under laparoscopic visualization, the cecum was identified, mobilized, and sutured to the anterior abdominal wall; the Chait device was then inserted. The procedure permitted excellent cecal visualization and mobilization. Precise positioning of the device in the cecum was achieved, and the procedure was clinically effective with no postoperative complications. Miniature access Chait cecostomy for children with fecal incontinence is a safe option. It is a single-stage procedure performed by the surgeon, the same person responsible for the management of potential insertion-related complications and the long-term management of the bowel