Diagnosis of insulin secreting tumour by retrograde pancreatography.

The case of a 26-year-old male with insulinoma is presented. An insulin secreting tumour was indicated by laboratory data. The tumour was accurately localized by endoscopic retrograde pancreatography, as verified by subsequent surgery.     

Hepatitis delta virus infection in chronically HBV-infected patients from northern Poland

Summary. The objective of this study was to estimate the presence of hepatitis delta virus RNA in chronically HBV-infected patients from northern Poland. Three out of 63 studied samples (4.8%) were positive in a qualitative test for total antibodies to HDV antigen. Five samples (7.9%) turned out to be HDV-RNA-positive by RT-PCR, four of them were sequenced in the region of L-HDAg, and phylogenetic analysis was performed. All four examined samples belonged to genotype I. Two RNA-positive/anti-HD-negative samples possessed a few uncommon nucleotide substitution sites within the L-HDAg sequence, which could suggest unique variants in the Polish population of HDV-infected patients.     

Adaptation of the Behavioral Assessment and Research System (BARS) for evaluating neurobehavioral performance in Filipino children

Neurobehavioral tests have long been used to assess health effects in exposed working adult populations. The heightened concern over the potential impact of environmental exposures on neurological functioning in children has led to the development of test batteries for use with children. There is a need for reliable, easy-to-administer batteries to assess neurotoxic exposure in children. One such test battery previously validated with Spanish- and English-speaking children ages 4 and older, combines computerized tests from the Behavioral Assessment and Research System (BARS) with non-computerized tests. The goal of the present study was to determine the feasibility of using standardized neurobehavioral tests in preschool and school-aged Filipino children. Test instructions were translated into the vernacular, Tagalog or Tagalog-English ("Taglish") and some instructions and materials were modified to be appropriate for the target populations. The battery was administered to 4-6-year-old Filipino children (N=50). The performance of the Filipino children was compared to data previously collected from Spanish- and English-speaking children tested in the US. The majority of children had no difficulty completing the tests in the battery with the exception of the Symbol-Digit test and Digit Span-reverse. The three groups showed similar patterns of performance on the tests and the older children performed better than the younger children on all of the tests. The findings from this study demonstrate the utility of using this test battery to assess cognitive and motor performance in Filipino children. Tests in the battery assess a range of functions and the measures are sensitive to age differences. The current battery has been utilized in several cultures and socio-economic status classes, with only minor modifications needed. This study demonstrates the importance of pilot testing the methods before use in a new population, to ensure that the test is valid for that culture.     

Alterations of neonatal thyroid function

Grüters A, Krude H, Biebermann H, Liesenkötter KP, Schöneberg T, Gudermann T. Alterations of neonatal thyroid function. Acta Pædiatr 1999; Suppl 428: 17–22. Stockholm. ISSN 0803–5326
Recent progress has been made in understanding the pathogenesis of neonatal thyroid disorders. Autosomal recessive inheritance of mutations of the thyroid peroxidase and thyroglobulin genes has been described in some patients with congenital hypothyroidism (CH) and a family history of CH. Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis. These discoveries are important for patients with CH diagnosed by neonatal screening, as these patients will have normal fertility. The molecular genetic analysis of mutations of the TSH gene in patients with familial and sporadic cases of isolated central CH, who are missed by TSH screening programmes, now enables rapid diagnosis and appropriate therapy in the neonate. In newborn infants with severe non-autoimmune hyperthyroidism, autosomal dominant gain-of-function mutations in the TSH receptor gene have been demonstrated. In these patients, molecular genetic studies are extremely helpful in therapeutic decision making, as early thyroid ablation is the only effective treatment that avoids the sequelae of long-term hyperthyroidism. Molecular genetic studies are therefore useful in the diagnostic work-up of neonatal thyroid alterations. □ Congenital hypothyroidism, molecular pathogenesis, neonatal hyperthyroidism     

Repeated dose inhaled budesonide versus placebo in the treatment of croup

OBJECTIVE: To investigate the efficacy and tolerance of 12-hourly dosing with 2 mg 4 mL-1 of inhaled budesonide versus placebo in patients admitted to hospital with moderate/severe croup. METHOD: Eighty-two children hospitalised with croup received either 2 mg 4 mL-1 of budesonide or placebo 12 hourly (maximum four doses) via Ventstream nebuliser in a randomised, double-blind manner. Croup scores were performed at 0, 2, 6, 12, 24, 36 and 48 h from initial nebulisation whilst the patient remained hospitalised. Follow-up assessments were made 1 and 3 days after discharge. RESULTS: Improvement was observed in the budesonide group over the 12-h dosing interval when compared to placebo (P = 0.04). Time to attain a significant clinical improvement was superior in the budesonide group (P = 0.01). Three days after discharge seven of 32 placebo-treated patients and one of 34 budesonide-treated patients had sought further medical follow-up (P = 0.02). CONCLUSION: Twelve-hourly dosing with inhaled budesonide significantly improved symptoms of croup as well as decreased relapse rates when compared with placebo.     

Muir–Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field

Muir–Torre syndrome is a variant of Lynch syndrome, characterised by sebaceous neoplasia and/or keratoacanthomas associated with visceral malignancies. Muir–Torre syndrome is caused by germline mutations of one of the mismatch repair genes, frequently MSH2 and less frequently MLH1 and MSH6. Visceral malignancies associated with Muir–Torre syndrome and Lynch syndrome include colorectal, endometrial and other gastrointestinal, urological and gynaecological malignancies. Small numbers of Lynch syndrome-associated soft tissue sarcomas have been reported, but there are no reported cases of soft tissue sarcomas in Muir–Torre syndrome. In this study, we report a 74-year-old man with known Muir–Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. The tumour showed loss of expression of MSH2 and MSH6 on immunohistochemistry. Immunohistochemistry on another pleomorphic liposarcoma in a different patient with no previous history of Muir–Torre syndrome or Lynch syndrome showed no loss of expression of mismatch repair proteins. This is the first report of Muir–Torre syndrome-associated sarcoma and the first case of post-radiation sarcoma in Lynch syndrome.     

UGT1A1 gene polymorphism as a potential factor inducing iron overload in the pathogenesis of type 1 hereditary hemochromatosis

Aim  Hereditary hemochromatosis is a common genetic disorder characterized by iron overload and subsequent organ damage. It is caused in most cases by HFE gene mutations which penetrance can be affected by many factors. The aim of this study was to establish the role of UGT1A1 gene polymorphism and serum bilirubin concentration in the pathogenesis of hereditary hemochromatosis.
Methods  Biochemical, histopathological and genetic data indicating iron excess and serum total bilirubin concentration were determined in 32 patients with the type 1 hereditary hemochromatosis. Fluorescent molecular probes assays were used for genotyping of UGT1A1*28 and UGT1A1*60 mutations in these individuals.
Results  High incidence and a significant correlation of UGT1A1 gene mutations with increased serum bilirubin level and lower grades of liver tissue inflammatory activity were observed in study participants. UGT1A1*28 and UGT1A1*60 mutations were strongly linked together. Two of the subjects presented very rare genotypes of UGT1A1 gene: (TA)_5/7 and c.-64G>C heterozygotes.
Conclusions  UGT1A1 gene polymorphism and as its consequence of high serum bilirubin level may promote iron accumulation in hemochromatosis patients by reducing the activity of inflammation. We proposed a possible mechanism of this interaction.