Preoperative ultrasound in de Quervain's disease: an investigation worth doing.

BACKGROUND: The diagnosis of de Quervain's disease is traditionally clinical. There are no defined objective criteria to select a mode of treatment (conservative or surgical). Usually, all cases are initially treated conservatively and are offered surgery if it fails. Persistent symptoms after surgery, a nightmare for treating surgeon, are attributed to improper diagnosis or inadequate release of the compartment. METHODS: A total of 45 symptomatic wrists in 42 patients were analyzed. All patients underwent ultrasound examination using a 12 MHz linear array transducer by the same radiologist in both the affected and unaffected wrists. RESULTS: The highest incidence was seen in housewives involved in domestic work. CONCLUSION: Ultrasound is a worthwhile preoperative investigation in case of de Quervain's disease.

The changing pattern of diagnosis of infantile cholestasis.

OBJECTIVE: Cholestatic liver disease in infancy is caused by a wide range of conditions. This study reviews the pattern of diagnosis of infants with cholestasis presenting to a tertiary referral paediatric hospital in Sydney, Australia, during a 12-year period (1985-96). METHODOLOGY: Infants aged less than 6 months with cholestasis were identified retrospectively from hospital records and data retrieved from the medical records. RESULTS: There were 205 infants identified as having cholestatic liver disease. The aetiology of the cholestasis was idiopathic in 25%, metabolic/genetic in 23%, and due to obstruction in 20%, parenteral nutrition in 20%, infection in 9% and bile duct hypoplasia in 3%. CONCLUSIONS: This study highlights the changing patterns of diagnosis of cholestatic liver disease in infants at a tertiary paediatric facility, demonstrating that up to 50% of cases are now due to genetic/metabolic diseases or parenteral nutrition, and a high proportion are due to idiopathic disease.

Neointimal thickening after stent delivery of paclitaxel: change in composition and arrest of growth over six months.

OBJECTIVES: The purpose of this study was to determine long-term effects of stent-based paclitaxel delivery on amount, rate and composition of neointimal thickening after stent implantation. BACKGROUND: Paclitaxel prevents vascular smooth muscle cell proliferation and migration in vitro and in vivo. These actions, coupled with low solubility, make it a viable candidate for modulating vascular responses to injury and prolonged effects after local delivery. We asked whether local delivery of paclitaxel for a period of weeks from a stent coated with a bioerodible polymer could produce a sustained reduction in neointimal hyperplasia for up to six months after stenting. METHODS: Stainless steel stents were implanted in the iliac arteries of rabbits after endothelial denudation. Stents were uncoated or coated with a thin layer of poly(lactide-co-sigma-caprolactone) copolymer alone or containing paclitaxel, 200 microg. RESULTS: Paclitaxel release in vitro followed first-order kinetics for two months. Tissue responses were examined 7, 28, 56 or 180 days after implantation. Paclitaxel reduced intimal and medial cell proliferation three-fold seven days after stenting and virtually eliminated later intimal thickening. Six months after stenting, long after drug release and polymer degradation were likely complete, neointimal area was two-fold lower in paclitaxel-releasing stents. Tissue responses in paclitaxel-treated vessels included incomplete healing, few smooth muscle cells, late persistence of macrophages and dense fibrin with little collagen. CONCLUSIONS: Poly(lactide-co-sigma-caprolactone) copolymer-coated stents permit sustained paclitaxel delivery in a manner that virtually abolishes neointimal hyperplasia for months after stent implantation, long after likely completion of drug delivery and polymer degradation.

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

Mitochondrial electron transport chain defect presenting as hypoglycemia.

A profoundly deaf female infant was found to have hypoglycemia and lactic acidemia after an episode of decreased oral intake and vomiting. Electron transport chain (ETC) enzyme studies revealed a combination defect of complexes I, III, and IV in liver but not in skeletal muscle. This case highlights the fact that defects of the ETC are clinically highly heterogeneous and should be considered with hypoglycemia and lactic acidosis in the absence of a glycogen storage disorder. Moreover, ETC defects can occur with a biochemical profile suggestive of a fatty acid oxidation disorder.

Platelet interactions with plasma-polymerized ethylene oxide and N-vinyl-2-pyrrolidone films and linear poly(ethylene oxide) layer.

Dimethyldichlorosilane (DDS)-treated glass (DDS-glass) was modified with either poly(ethylene oxide) (PEO) films or poly(N-vinyl-2-pyrrolidone) (PNVP) films by plasma polymerization. The thickness of the plasma polymerized films was varied between 40 and 700 nm. The results showed that the hydrophilic plasma polymerized PEO and PNVP films on DDS-glass did not prevent platelet adhesion and activation. The film thickness had only marginal influence on the prevention of platelet activation. In contrast, platelet adhesion was prevented on DDS-glass absorbed with a PEO-containing block copolymer (Pluronic F-108 surfactant) even at a calculated thickness of the PEO layer of less than 40 nm. This study shows that surface hydrophilization is not sufficient for prevention of platelet adhesion and activation. The contrasting results in platelet adhesion between cross-linked plasma polymers and linear PEO-containing block copolymers may be explained qualitatively by a steric repulsion mechanism that is achieved by the conformational freedom of the linear PEO chains interacting with water.

Cholestatic jaundice and congenital hypopituitarism.

OBJECTIVE: The prevalence of cholestatic jaundice as a presenting feature of congenital hypopituitarism is assessed. METHODOLOGY: A retrospective case record analysis of the presenting features in all patients diagnosed as having congenital hypopituitarism between 1973-93. RESULTS: Seven of the 20 patients with congenital hypopituitarism presented with cholestatic jaundice as the major initial manifestation of the disorder. Liver biopsy findings in three revealed intracellular bile pigment accumulation and variable giant cell formation. CONCLUSION: Cholestatic jaundice was the major manifestation of congenital hypopituitarism in 35% of patients presenting in the neonatal or early infancy period.

Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta.

A male child presented at 5 months of age with vomiting, diarrhoea, hypoglycaemia and hepatomegaly. Histology on a frozen liver biopsy suggested glycogen storage disease (GSD), while biochemical analyses confirmed an elevated glycogen content and normal activities of the GSD enzymes with the proviso that a variant of GSD 1 should be considered. The patient presented at 9 months of age with severe lactic acidosis and hypoglycaemia. A glucagon tolerance test and galactose load test on the patient produced no glycaemic response. A second biopsy was obtained and appropriately handled for the investigation of variants of the glucose-6-phosphatase enzyme (G6Pase) complex. Results showed that the patient had a deficiency of two transport proteins of the G6Pase complex, namely glucose-6-phosphate translocase and pyrophosphate translocase, i.e. GSD 1b/1c beta. These results were confirmed by additional kinetic analyses which provided confirmation of the double translocase deficiency. Evidence for inhibitors to these translocases was not found. The patient's treatment has resulted in the hypoglycaemia now being well controlled; however, at 3 years of age, height and weight are markedly lagging and he is moderately developmentally delayed. Neutropenia has not been found and neutrophil function is normal. Double enzyme deficiencies are very rare and possible explanations which might lead to this phenotype are considered. This, to the authors' knowledge, is the first report of a double translocase deficiency causing GSD type 1.

Antigen absorption: food, fire or fuel?

The epithelium of the gastrointestinal tract is constantly exposed to varieties of antigens. In healthy individuals, only small amounts of ingested dietary antigens are absorbed. The normal immune response to absorbed food antigens is one of tolerance, which enables food to play its nutritive ("food") role without causing disease. Breakdown in tolerance may result in a spectrum of clinical problems, including food allergy, food sensitive enteropathy and food intolerance ("fire"). When food-sensitive enteropathy is subclinical, continued ingestion of the offending food antigen sometimes results in development of tolerance and resolution of the enteropathy. The development of tolerance to a specific food antigen under these circumstances may be prevented by briefly excluding the antigen from the diet, substituting it with a different antigen and then reintroducing the first antigen. In this situation, the second food antigen not only prevents the mucosal recovery expected if the infant had been continuously fed food containing the first antigen alone, but frequently seems to worsen the damage when the first antigen is reintroduced ("fuel"). While genetic constitution seems to be the major player in the heightened IgE responsiveness in atopic subjects, the pathophysiology of food-sensitive enteropathy in non-atopic children is less well understood. Complex interplay between environmental factors such as breast feeding, and host factors such as the integrity of the absorptive gut epithelium and its immunological responsiveness at the time of introduction of various food antigens seems to be important in its genesis as well as in its tendency to be a transient disorder of infancy.

Predominance of T cell receptor V delta 3 in small bowel biopsies from coeliac disease patients.

Increased numbers of T cells bearing the gamma delta antigen receptor (gamma delta T cells) have been reported in small bowel biopsies of patients with latent, active or treated coeliac disease. We have studied jejunal biopsies from seven children with coeliac disease and 10 children with normal gut histology to characterize gamma delta T cell receptor (TCR) variable region gene subfamily expression in resident gamma delta T cells and compared the results with the findings in peripheral blood mononuclear cells (PBMC) obtained on the same day as the gut biopsy. Molecular analysis of RNA extracted from PBMC and biopsies was performed by reverse transcription and amplification with the polymerase chain reaction using primers specific for six TCR V delta families and four TCR V gamma families. We report, first, that a significantly increased number of gamma delta T cells expressing the TCR V delta 3 subfamily (P = 0.008) was observed in jejunal biopsies from children with coeliac disease, and second, that gamma delta T cell V region subfamily populations in gut differed from those seen in PBMC for both control and coeliac patients. Significantly reduced numbers of TCR V delta 2, V delta 3, V delta 5 (P < 0.01) and V gamma 2, V gamma 4 (P < 0.01) T cells were found in gut compared with PBMC. The difference in gamma delta T cell repertoire observed between gut and blood may reflect differences in the nature of the antigens usually encountered in these two compartments. The over-representation of TCR V delta 3 in patients with coeliac disease suggests a specific role for these cells in the induction or maintenance of the jejunal abnormality associated with this disease.

Surface modification of polymeric biomaterials by albumin grafting using h-irradiation.

Polymeric biomaterial surfaces were modified by albumin grafting to improve their blood compatibility. Albumin molecules were functionalized by introducing double bonds using glycidyl acrylate. The functionalized albumin was covalently attached to various biomaterial surfaces such as polypropylene, polycarbonate, and poly(vinyl chloride) by h-irradiation. Surface-induced platelet adhesion and thrombus formation on the albumin-grafted surfaces was examined using computer-enhanced video microscopy and scanning electron microscopy. The amount of the grafted albumin was dependent on the h-irradiation dose and the concentration of albumin used for adsorption. The grafted albumin molecules remained on the surface even after exposure to blood for prolonged time periods. This approach was used to graft albumin to polymeric materials of an oxygenator. The albumin grafting resulted in a substantial improvement in blood compatibility as compared to control oxygenators. The covalent grafting of functionalized albumin by h-irradiation obviates the need for premodification of chemically inert polymer surfaces. It is useful for albumin grafting to various biomaterial surfaces.

Sclerosing cholangitis in children with inflammatory bowel disease.

BACKGROUND: Primary sclerosing cholangitis (PSC) with inflammatory bowel disease (IBD) has been rarely reported in children. AIM: To describe the clinical presentation, sequential liver function test abnormalities, radiological bile duct anomalies and liver histology in four children with PSC and IBD. METHODS: Over a period of 18 years, four of 130 patients with IBD developed abnormal liver function tests. Three of the four patients had ulcerative colitis and the other Crohn's disease. All four patients had baseline and follow-up liver function tests, percutaneous transhepatic cholangiography and a needle biopsy of the liver. RESULTS: The four patients at presentation had minimal symptoms or signs of liver disease. All had elevation of serum transaminases, gamma glutamyl transferase and/or alkaline phosphatase. Three had the typical onion skin fibrosis of bile ducts. Percutaneous transhepatic cholangiography demonstrated irregularity and beading of the hepatic and common bile ducts in three patients. The other with normal cholangiography had fibrosing cholangitis on liver biopsy and was considered to have small duct disease. CONCLUSIONS: We conclude that yearly biochemical assessment of liver function should be performed on all children with IBD, and if abnormal should raise the suspicion of PSC. The latter diagnosis can be confirmed by liver biopsy and cholangiography.

Co-existence of coeliac disease and insulin-dependent diabetes mellitus in children: screening sera using an ELISA test for gliadin antibody.

The prevalence of coeliac disease in children with insulin-dependent diabetes mellitus was investigated using a screening test of serum for antigliadin antibody by ELISA. One hundred and eighty (180) unselected diabetic children were screened for IgA and IgG class antigliadin antibodies (AGA); children with either grossly elevated or slightly elevated AGA had small bowel biopsies. The four children with the highest IgA AGA had total villous atrophy. These four children were considered to have unsuspected coeliac disease. The prevalence of coeliac disease in this group of children was one in 45. Anti-gliadin IgA and IgG tests are suitable for screening children at high risk of having coeliac disease.

Dengue haemorrhagic fever and dengue shock syndrome: are they tumour necrosis factor-mediated disorders?

A consecutive series of 24 patients with clinical features of primary dengue infection and 22 controls (14 patients with viral fever of unknown origin and 8 healthy subjects) were assayed for serum levels of tumour necrosis factor (TNF). The acute sera of the 24 patients with clinical dengue infection were positive for dengue virus-specific IgM antibody. Clinically, 8 had dengue fever (DF), 14 dengue haemorrhagic fever (DHF) and 2 dengue shock syndrome (DSS). All 16 patients with DHF/DSS had significantly elevated serum TNF levels but the 8 DF patients had TNF levels equivalent to that in the 22 controls. A case is made for augmented TNF production having a role for the pathophysiological changes observed in DHF/DSS and mediator modulation as a possible therapeutic approach to treatment.

Outcome of surgery for biliary atresia.

Forty-seven infants (26 male, 21 female) with biliary atresia under- went hepatic portoenterostomy during the 16-year period 1971-87. Twenty-six patients (55%) are alive 1-17 years after surgery, with 21 (45%) being jaundice-free. For children who became jaundice-free, the mean age at surgery was 78 days (range: 34-125 days), compared with 97 days (range: 48-224 days) for those who did not. Of 39 patients operated on at less than 120 days of age, 24 (60%) are alive. All four patients operated on after 125 days of life died. Of 31 patients operated on more than 5 years ago, 12 (39%) have survived, the oldest being 17 years. Ten (32%) have normal serum bilirubin concentrations, have non-active cirrhosis on liver biopsy, have had normal growth and development, and lead normal lives. The oldest two patients suffered variceal haemorrhage in their teenage years. In our recent experience, 11 of 16 patients (69%) have had complete clearing of jaundice, lead normal lives and do not currently require assessment for liver transplantation. It is believed that early referral of children with biliary atresia to experienced surgical units for portoenterostomy will lead to long-term survival, without the need for liver transplantation in a majority of cases. Liver transplantation should be offered in infancy only after failed portoenterostomy, except for patients presenting after 120 days in whom transplantation may be considered primary therapy.

Familial Mediterranean fever in six Australian children.

Six Australian children fulfilled the diagnostic criteria for familial Mediterranean fever. None had a family history of the disease, but five children came from ethnic groups that typically were associated with the disease. The symptoms commenced before five years of age in all the children, and three children underwent unnecessary operations because of the symptoms of recurrent fever and abdominal pain. All six children benefited from colchicine prophylaxis by mouth. More cases can be expected to be recognized in Australia because of the large number of Australian children with a Mediterranean heritage.