SummaryGuidelines on hereditary spherocytosis (HS) published in 2004 (Bolton-Maggs et al, 2004) are here replaced to reflect changes in current opinion on the surgical management, (particularly the indications for concomitant splenectomy with cholecystectomy in children with mild HS, and concomitant cholecystectomy with splenectomy in those with asymptomatic gallstones).Further potential long term hazards of splenectomy are now recognised. Advances have been made in our understanding of the biochemistry of the red cell membrane which underpins the choice of tests. Biochemical assays of membranes proteins and genetic analysis may be indicated (rarely) to diagnose atypical cases. The diagnostic value of the eosin-5-maleimide (EMA) binding test has been validated in a number of studies with understanding of its limitations.Keywords: spherocytosis, hereditary, splenectomy, child, erythrocyte membrane.The guideline group was selected to represent UK medical experts and patient representatives but sought the expertise of two overseas specialists with a particular interest in hereditary spherocytosis (HS).The writing group searched PubMed from 2003 to July 2010 for relevant literature including meta-analyses (none found), reviews and original papers in any language, using the following key words and combinations of them: hereditary spherocytosis; red cell membrane; spectrin; ankyrin; band 3; spherocytes; haemolysis; folate; folic acid; splenectomy; cholecystectomy; cholecystostomy; laparoscopic; gallstones; pneumococcal; vaccination; penicillin prophylaxis. Only the abstracts were read of papers in languages other than English. The writing group produced the draft guideline, which was subsequently revised by consensus by members of the General Haematology Task Force of the British Committee for Standards in Haematology (BCSH). The guideline was then reviewed by a sounding board of approximately 50 UK haematologists, the BSCH and the British Society for Haematology Committee and comments incorporated where appropriate. The 'GRADE' system was used to quote levels and grades of evidence, details of which can be found in Appendix I. The objective of this guideline is to provide healthcare professionals with clear guidance on the management of HS. In all cases individual patient circumstances may dictate an alternative approach. Summary of key recommendationsDiagnostic testing (confirmation of previous guidelines)

No abstract

The type of operation performed for perforated necrotizing enterocolitis does not influence survival or other clinically important early outcomes in preterm infants. (ClinicalTrials.gov number, NCT00252681.).

No abstract

To date, this report represents the largest series of patients undergoing the 1-stage transanal Soave pullthrough. This approach is safe, permits early feeding, causes minimal pain, facilitates early discharge, and presents a low rate of complications.

Since 1967, 40 patients with hydatid disease of the liver have been treated at our hospital. Diagnosis was made using clinical criteria, serology, skin tests, and imaging techniques. Thirty-five patients were operated upon. In 18 patients the cyst was uncomplicated (Group I), and in 17 the cyst was infected or communicated with the biliary tract (Group II). Three forms of surgical treatment were used: A) cyst evacuation, scolicidal irrigation, and primary cyst closure, B) evacuation, irrigation, and external drainage, and C) complete or partial cyst resection. Mebendazole was used in six patients, four of whom were also treated surgically. In Group I, one of 11 patients (8%) treated by primary closure had complications, versus four of five patients (80%) treated with external drainage (p less than 0.001). Mean postoperative hospital stay for these two groups was 11.8 versus 20.8 days, respectively (p less than 0.001). Complication rates in Group II were higher, and were evenly distributed among treatments. Patients have been followed yearly, with a median follow-up of 5 years. Active hydatid disease has been found in three patients, who all had known residual disease at initial operation. The best treatment for an uncomplicated hydatid liver cyst is evacuation, scolicidal irrigation, and primary closure. External drainage is used for infected cysts or those communicating with the biliary tract, and excision for extrahepatic and peripheral, easily resectable cysts. Mebendazole is used for intraperitoneal spillage of cyst contents and in patients with inoperable disease.

No abstract

Background and Aims Interleukin-10 (IL-10) signaling genes are attractive inflammatory bowel disease (IBD) candidate genes as IL-10 restricts intestinal inflammation, IL-10 polymorphisms have been associated with IBD in genome-wide association studies, and mutations in IL-10 and IL-10 receptor (IL-10R) genes have been reported in immunodeficient children with severe infantile-onset IBD. Our objective was to determine if IL-10R polymorphisms were associated with early-onset IBD (EO-IBD) and very early-onset IBD (VEO-IBD). Methods Candidate-gene analysis of IL10RA and IL10RB was performed after initial sequencing of an infantile onset-IBD patient identified a novel homozygous mutation. The discovery cohort included 188 EO-IBD subjects and 188 healthy subjects. Polymorphisms associated with IBD in the discovery cohort were genotyped in an independent validation cohort of 422 EO-IBD subjects and 480 healthy subjects. Results We identified a homozygous, splice-site point mutation in IL10RA in an infantile-onset IBD patient causing a premature stop codon (P206X) and IL-10 insensitivity. IL10RA and IL10RB sequencing in the discovery cohort identified five IL10RA polymorphisms associated with ulcerative colitis (UC) and two IL10RB polymorphisms associated with Crohn’s disease (CD). Of these polymorphisms, two IL10RA SNPs, rs2228054 and rs2228055 were associated with very early-onset UC in the discovery cohort and replicated in an independent validation cohort (OR 3.08, combined p=2×10−4; and OR 2.93, p=6×10−4, respectively). Conclusions We identified IL10RA polymorphisms that confer risk for developing VEO-UC. Additionally, we identified the first splice site mutation in IL10RA resulting in infantile-onset IBD. This study expands the phenotype of IL10RA polymorphisms to include both severe arthritis and VEO-UC.