The unusual cause of recurrent abdominal pain in an 11-year-old boy.

The case of an 11-year-old boy with recurrent abdominal pain is presented. Physiological findings were found normal during a clinical investigation, as well as many laboratory tests, ultrasonography and CT of abdomen. Only a high level of sedimentation rate and the focus of increased activity in the sacral region on scintigraphy using 99mTc-HMPAO (hexamethypropyleneaminooxime) labelled leukocytes were found. The other findings on bone scintigraphy, X-ray and MRI led to a deflection of the correct diagnosis. The real culprit proved to be an ingested foreign body (a piece of a wooden skewer) that the patient failed to reveal.

A survey of hepatitis B and C prevalence amongst the homeless community of Prague.

BACKGROUND: Viral hepatitis B (VHB) and C (VHC) are a major health concern worldwide, with 170 million people chronically infected and at risk of liver cancer, cirrhosis or liver failure. Since no vaccination is available against VHC it is important to understand how to prevent future infection. The modes of transmission include intravenous drug use (IDU), blood products, tattooing and, to a lesser extent, sexual intercourse. Homelessness is a risk factor of VHB and VHC because of the environments and behaviours associated with homeless communities such as poor hygiene, nutrition and high levels of IDU. The aim of this project was to determine the prevalence of VHB and VHC and its risk factors amongst homeless community of Prague, Czech Republic. PATIENTS AND METHODS: Ninety-eight individuals of the Prague homeless community were interviewed and tested for VHB and VHC infection markers. RESULTS: The prevalence of both VHB and VHC was 26.5%. The major risk factors in this population were past and present IDU, young age and sharing the paraphernalia used by intravenous drug users (e.g. spoons, foils and filters). CONCLUSION: With the exception of age, all these risk factors could all be targeted in order to combat the major public health concern that VHB and VHC poses to the homeless community of Prague.

Incidence of Crohn disease in the Czech Republic in the years 1990 to 2001 and assessment of pediatric population with inflammatory bowel disease.

BACKGROUND: The aim of this study was to assess the pediatric population that suffered from inflammatory bowel disease (IBD) in the Czech Republic and to determine the incidence of Crohn disease (CD) in children up to 15 years age between 1990 and 2001. METHODS: Diagnostic criteria for CD, ulcerative colitis (UC), and indeterminate colitis (IC) were defined. Medical records provided a source of basic information about the children. A standardized protocol was filled out and sent to the coordinator of the study. All protocols were checked to see whether the data corresponded to the defined criteria and then were processed further. The study was retrospective in character for the years 1990 to 1999 and prospective for the years 2000 and 2001. RESULTS: Diagnostic criteria were met in 470 patients with IBD; 201 of them turned 18 years old during the study period. CD was diagnosed in 223 patients. The incidence of CD in children up to 15 years of age increased from 0.25/100,000 in 1990 to 1.25/100,000 in 2001. Eighty-two percent of children with CD were treated with aminosalicylates in combination with corticosteroids; 29% of patients received azathioprine. Severe growth retardation was recorded in 6.4% of adolescents with CD at the age of 18. UC was diagnosed in 202 patients. Therapy with aminosalicylates only was sufficient for control of the disease in 23% patients; 68% children were treated with corticosteroids, 15 of them (23% of the whole group) received additional azathioprine. Criteria for IC were met in 9.8% of all patients with IBD. CONCLUSION: This study confirmed an increase in incidence of CD in children younger than 15 years in the Czech Republic.

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

BACKGROUND & AIMS: Dubin-Johnson syndrome is recessively inherited, conjugated hyperbilirubinemia induced by mutations in the ABCC2/MRP2 gene encoding the canalicular transporter for conjugated bilirubin. Gilbert's syndrome is recessively inherited, unconjugated hyperbilirubinemia caused by decreased conjugation rate of bilirubin associated mostly with homozygous A(TA) 7 TAA variant of the TATAA-box in the UGT1A1 gene promoter. Our aim was to establish the molecular diagnosis in a 3-year-old male with atypical, intermittent, predominantly unconjugated, hyperbilirubinemia. METHODS: 99m Tc-HIDA cholescintigraphy was used for imaging the biliary tree. Expression of ABCC2/MRP2 protein in hepatocytes was investigated immunohistochemically. UGT1A1 and ABCC2/MRP2 genes were sequenced from genomic DNA, and the mutations were verified by fragment analysis, sequencing the cloned exons, and restriction fragment length polymorphism. RESULTS: Cholescintigraphy revealed delayed visualization of the gallbladder. A brown granular lipopigment differing from melanin-like pigment reported in Dubin-Johnson syndrome was present in hepatocytes, but, otherwise, liver histology was normal. ABCC2/MRP2 protein was not detected on the canalicular membrane of hepatocytes, and 2 novel mutations were found in the ABCC2/MRP2 gene: a heterozygous in-frame insertion-deletion mutation 1256insCT/delAAACAGTGAACCTGATG in exon 10 inherited from the father and a heterozygous deletion 4292delCA in exon 30 inherited from the mother. In addition, the patient was homozygous for -3279T>G and A(TA) 7 TAA mutations in the UGT1A1 gene promoter. CONCLUSIONS: Our patient represents a case of digenic mixed hyperbilirubinemia-a distinct type of constitutive jaundice resulting from coinherited defects in ABCC2/MRP2 and UGT1A1 genes.