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Early detection and accurate diagnosis of cholestatic jaundice (CJ) are important for successful treatment and favourable prognosis but the rapid and effective recognition of the causes of cholestasis in infants is still challenging also for paediatric gastroenterologist. Here is reported the case of a female infant with CJ who during the observation showed features suggestive of many diseases such as Alagille syndrome, cystic fibrosis, neonatal hemocromatosis, α1-anti-trypsin deficiency (α1-ATD) and biliary atresia. A definite diagnosis was not obtained with a first liver biopsy performed at the age of 58 days which revealed severe lobular hepatitis and signs of cholangitis. An intraoperative cholangiography, performed to exclude biliary atresia, showed signs of sclerosing cholangitis. A second liver biopsy supported diagnosis of sclerosing cholangitis, but also showed signs of α1-ATD. The analysis of phenotype/genotype of α1-ATD excluded this diagnosis. At the end of a challenging diagnostic process, at the age of 75 days, the final diagnosis was of neonatal sclerosing cholangitis, but many doubts persisted. This case confirms that neonatal cholestasis remains a very challenging matter.

Hereditary haemochromatosis is an autosomal recessive disorder of iron regulation that results in abnormal intestinal iron absorption with progressive iron overloading of parenchymal cells. Two specific, single point mutations of the HFE gene (C282Y and H63D) have been described in haemochromatosis patients. Epidemiological studies have revealed a strict association between hereditary haemochromatosis and C282Y homozygosis or C282Y/H63D compound heterozygosis, suggesting that these mutations may provide a useful tool for diagnosis. However, recent investigations from southern Europe have reported lower allelic frequencies of the C282Y mutation among haemochromatosis patients, apparently depending on the geographical area of the population analysed. To assess the predictive value of the detection of the C282Y and H63D HFE mutations in our geographical area, we have evaluated their occurrence in 46 haemochromatosis patients from southern Italy. We found that only 19.6% of our patients were homozygous for the C282Y mutation and 21.7% were compound C282Y/H63D heterozygotes. Among the remaining 59%, approximately 40% did not display any of the known HFE mutations. We conclude that, in southern Italy, another genetic determinant/s must be responsible for many haemochromatosis cases and that a genetic screening for the C282Y and H63D HFE mutations is not sufficient for hereditary haemochromatosis diagnosis.

Hereditary haemochromatosis is an autosomal recessive disorder of iron regulation that results in abnormal intestinal iron absorption with progressive iron overloading of parenchymal cells. Two specific, single point mutations of the HFE gene (C282Y and H63D) have been described in haemochromatosis patients. Epidemiological studies have revealed a strict association between hereditary haemochromatosis and C282Y homozygosis or C282Y/H63D compound heterozygosis, suggesting that these mutations may provide a useful tool for diagnosis. However, recent investigations from southern Europe have reported lower allelic frequencies of the C282Y mutation among haemochromatosis patients, apparently depending on the geographical area of the population analysed. To assess the predictive value of the detection of the C282Y and H63D HFE mutations in our geographical area, we have evaluated their occurrence in 46 haemochromatosis patients from southern Italy. We found that only 19.6% of our patients were homozygous for the C282Y mutation and 21.7% were compound C282Y/H63D heterozygotes. Among the remaining 59%, approximately 40% did not display any of the known HFE mutations. We conclude that, in southern Italy, another genetic determinant/s must be responsible for many haemochromatosis cases and that a genetic screening for the C282Y and H63D HFE mutations is not sufficient for hereditary hae- mochromatosis diagnosis.

Herbal medicines are widely used in the world and are generally considered effective and safe, although many studies have demonstrated their potential toxic effects, particularly for the liver. We present a case of a woman, who developed a mixed cholestatic/hepatocellular liver injury due to herbal products. Firstly, she was admitted to Division of Surgery for right upper abdominal pain and jaundice and, for the suspect of biliary obstruction, she underwent to cholecystectomy. For persistence of liver enzymes elevation, she was admitted to our Gastroenterology Unit. We excluded every etiologies of hepatitis and, after an intensive dialogue with the patient, we obtained a history of herbal medicines use. Then, we performed a liver biopsy which was compatible with hepatotoxic injury. Therapy with ursodeoxycholic acid (UDCA) was started. Liver function tests returned to normal in two months. We describe this clinical case to encourage the communication doctor/patient in phytotherapy area and physician knowledge about efficacy and side effects of herbal medicine to avoid delayed diagnosis.

Computer tomography (CT) scan and ultrasound scan (US) are the preferred methods for staging subdiaphragmatic non-Hodgkin’s lymphoma (NHL),1 but their sensitivity in detecting focal lesions in the liver may be reduced if fibrosis is present. We investigated 6 NHL patients who also had a viral liver disease (chronic active hepatitis or cirrhosis) by US and CT liver scans and liver biopsy. US was performed using a Spazio-Hitachi instrument with a 3.5 MHz probe. With the exception of two patients, who underwent laparotomy as a diagnostic procedure, liver biopsy was performed under US guidance using a Menghini fine needle with automatic aspiration (1.2 mm in diameter x 150 mm in length), or a Chiba fine needle (0.7 mm x 150 mm).

Although several study confirmed the inaccuracy of information in death certificates, very few investigations were performed to assess the validity of stillbirth certificate reporting. The aim of the present study was to evaluate the extent to which the clinical diagnosis of stillbirth cause reported in certificates can be considered sensitive and specific. Eighty-five consecutive stillbirths were independently classified by two neonatologists with certificate information, using the new Wigglesworth classification, and the reliability of the classification process was evaluated. Afterwards we compared the classes made with certificate causes and the ones made with clinical-autoptic data (the "gold standard") and we estimated sensitivity and specificity of certificate cause of stillbirth. The reliability of the classification process was very high. Values of sensitivity were considered unacceptable, mainly in the field of congenital malformations, intra-partum asphyxia and other specific causes. By contrast, specificity was found to be satisfactory. The accuracy of clinical stillbirth diagnosis is not sufficient and good description needs the contribute of post-mortem necropsy.

The authors make a review of paediatric-neonatal cholestasis, a troublesome field in clinical and hepatopathology. They focus the main topics and stress the differential aspects in extrahepatic biliary atresia, "neonatal hepatitis", cholestatic syndromes associated with paucity of interlobular biliary ducts and metabolic diseases. The "overlap" areas and differential diagnosis in these chapters are a challenge for the pathologist. The importance of a close collaboration with clinicians is stressed.

We made a biochemical and histochemical study of the lipidic component of intima of fetal aortas on 8 autopsy cases (7 +/- 2 months aged) arrived at our observation in the Pathology's Institute of II Faculty of Naples. We made a study with freeze-sections stained with Oil-Red 0 and after dissociation of the intima by the adventitia, it is valued biochemically the lipidic peroxidation studying the levels of malonyldialdehyde (MDA) like indirect marker of peroxidation. It is known that is present a lipidic component in the intima of fetal aorta whether intracellular or extracellular (Fig. 1, 2). Sometimes this component can accumulate until to determinate true lipidic striae. The aim of this study is a detection of MDA in lipids extracted from human fetal aortas. MDA levels was measured by Thiobarbituric method (TBA): lipids were extracted both intima and adventitia by Chloroform/methanol method, after surgery immediately. The results are expressed in nMoles/mg of lipids +/- Standard Deviation. Controls of spontaneous lipid peroxidation was take at a different times. It is known that in vitro incubation of LDL with cultured endothelial cells, smooth muscle cells or macrophages leads to peroxidation of LDL phospholipids and oxidatively modified LDL become atherogenic via foam cells production. In addition lipid peroxidation was formed by the direct peroxidation of unsaturated fatty acids and their esters are capable of further lipoperoxide production by oxygen free radical; chain reactions. In this context lipid peroxidation could be an important factor in the first stage of human pathophysiological development and this phenomenon may be related by an early free radical production.