Familial hypercholesterolaemia with severe cardiac involvement in a boy: successful management and mid-term follow-up

A 13-year-old boy with double heterozygosity for familial hypercholesterolaemia with a 90% left coronary artery main stem stenosis is reported. The patient's cholesterol levels were effectively controlled with weekly sessions of selective low-density lipoprotein cholesterol removal through immunoadsorption by use of an extracorporeal system. Left main coronary artery stenosis was successfully treated with percutaneous transluminal balloon dilation. At 30 months after the intervention and still under treatment with weekly sessions of low-density lipoprotein apheresis the patient is free of cardiac symptoms. He shows normal exercise capacity and normal myocardial perfusion. It is concluded that aggressive management is justified in such patients and may result in a near-normal quality of life.     

Metabolic activation of aromatic amines by human pancreas

Epidemiologic studies have suggested that aromatic amines (and nitroaromatic hydrocarbons) may be carcinogenic for human pancreas. Pancreatic tissues from 29 organ donors (13 smokers, 16 non-smokers) were examined for their ability to metabolize aromatic amines and other carcinogens. Microsomes showed no activity for cytochrome P450 (P450) 1A2-dependent N-oxidation of 4-aminobiphenyl (ABP) or for the following activities (and associated P450s): aminopyrine N-demethylation and ethylmorphine N-demethylation (P450 3A4); ethoxyresorufin O- deethylation (P450 1A1) and pentoxyresorufin O-dealkylation (P450 2B6); p-nitrophenol hydroxylation and N-nitrosodimethyl-amine N-demethylation (P450 2E1); lauric acid omega-hydroxylation (P450 4A1); and 4- (methylnitrosamino)-1-(3-pyridyl-1-butanol) (NNAL) and 4- (methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) alpha-oxidation (P450 1A2, 2A6, 2D6). Antibodies were used to examine microsomal levels of P450 1A2, 2A6, 2C8/9/18/19, 2E1, 2D6, and 3A3/4/5/7 and epoxide hydrolase. Immunoblots detected only epoxide hydrolase at low levels; P450 levels were <1% of liver. Microsomal benzidine/prostaglandin hydroperoxidation activity was low. In pancreatic cytosols and microsomes, 4-nitrobiphenyl reductase activities were present at levels comparable to human liver. The O-acetyltransferase activity (AcCoA- dependent DNA-binding of [3H]N-hydroxy-ABP) of pancreatic cytosols was high, about twothirds the levels measured in human colon. Cytosols showed high activity for N-acetylation of p-aminobenzoic acid, but not of sulfamethazine, indicating that acetyltransferase-1 (NAT1) is predominantly expressed in this tissue. Cytosolic sulfotransferase was detected at low levels. Using 32P-post-labeling enhanced by butanol extraction, putative arylamine-DNA adducts were detected in most samples. Moreover, in eight of 29 DNA samples, a major adduct was observed that was chromatographically identical to the predominant ABP- DNA adduct, N-(deoxyguanosin-8-yl)-ABP. These results are consistent with a hypothesis that aromatic amines and nitroaromatic hydrocarbons may be involved in the etiology of human pancreatic cancer.      

Management of chylous ascites following laparoscopic presacral neurectomy

Chylous ascites is an extremely rare complication of laparoscopic presacral neurectomy (LPSN), and treatment is still controversial. Four patients undergoing LPSN for dysmenorrhoea or chronic pelvic pain were complicated with chylous ascites. Two were successfully treated with bipolar cauterization and one, after the failure of initial treatment by bipolar cauterization, was then effectively managed by compression with Gelform and closure of the peritoneum of the presacral area by suture through laparoscopy. The fourth patient had persistent chyle leakage from the drainage tube after electrocauterization and was finally cured by conservative management including removal of the drainage tube and a low-fat diet for 3 weeks. Chylous ascites has not been reported in laparoscopic presacral neurectomy. Management that is quick, effective and subjects the patients to the least amount of suffering is still unresolved. Repeated laparoscopy can be considered to identify the possibility of injury to lymphatic vessels, to relieve abdominal distention due to chyle accumulation, and to apply electrocauterization or compression with Gelform and closure of the peritoneum. Conservative treatment with a low-fat diet may need a longer time. The use of a drainage tube may provide negative pressure allowing a continuous leakage of chyle. However, more controlled study is required to identify the most proper and effective management.      

External quality assessment of clinical laboratories in the United Kingdom

A review is given of the National External Quality Assessment Schemes (NEQASs) in various pathology disciplines in the United Kingdom, with a discussion of the relative roles of the DHSS, individual laboratory scientists, and the relevant professional bodies. Principles of operation and scientific problems in the design of NEQASs in different disciplines are described and contrasted, and some comparisons with the experience in other European countries and the USA are drawn.     

Familial florid cemento-osseous dysplasia: a report of three cases and review of the literature

Familial cases of benign fibro-osseous lesions of the jaws are rare and have been described under numerous terms including familial gigantiform cementoma, multiple cemento-ossifying fibromas, sclerotic cemental masses and familial florid cemento-osseous dysplasia. The synonymous and interchangeable use of these terms to describe distinct entities with overlapping features has resulted in confusion and inaccurate categorisation of these lesions. This study highlights three family members with diffuse fibro-osseous jaw lesions with areas of significant expansion. In the pursuit of finding the best clinicopathological categorisation for the reported cases, familial florid cemento-osseous dysplasia and familial gigantiform cementoma were investigated. The final consensus of these three cases was that of familial florid cemento-osseous dysplasia, and one patient presented with a concurrent “ossifying fibromatoid lesion”. A literature review on the above entities was performed in an attempt to provide clarification and delineate distinguishing features of the individual diseases.     

Hydrogel lens wettability and deposition in vivo

Background : Wearing a hydrogel contact lens disrupts tear film stability, resulting in a low non-invasive surface drying time (NISDT) on the lens front surface. Reduced wettability causes deposit formation, reducing the quality of vision and lens comfort. This investigation determined the effect of commercially available HEMA-based materials on pre-lens tear film stability and deposition. Methods : Twenty patients in a randomised, double blind study wore four lenses for eight hours. These lenses were Tefilcon, Polymacon (Group I lenses), Vifilcon A and Etafilcon A (Group IV lenses). Non-invasive surface drying time (NISDT) was measured for each lens type after 10 minutes, one hour, four hours and eight hours wear. Lenses were then removed and examined by scanning electron microscopy. Results : NISDT decreased significantly (p < 0.05) over the eight-hour wear period for all lens types. Group IV lenses showed a slightly, but not clinically significantly, higher NISDT compared to Group I lenses. A greater number of deposits was seen on Vifilcon A and Polymacon compared to Etafilcon A and Tefilcon lenses. Conclusions : Wear decreases lens wettability over eight hours, irrespective of lens type. Higher wettability was seen with Group IV lenses, although the increase was not clinically significant. Wettability was not correlated with the formation of discrete deposits. Deposit formation depends on the composition of the lens base material, its ionic charge, surface topography, water content and wearers' ocular characteristics.     

Successful treatment of severe uterine synechiae with transcervical resectoscopy combined with laminaria tent

Seven patients with secondary amenorrhoea were diagnosed as having severe uterine synechiae by hysterosalpingography (HSG) and hysteroscopy, which revealed short, narrow and/or scarred uterine cavities as cone or column shapes. Laminaria tents were used to distend the uterine cavity prior to transcervical resectoscopy to completely dissect the dense adhesions. A more traditional postoperative management included an intrauterine device, oestrogen and antibiotics. Transcervical resectoscopy combined with laminaria appears to be a safe and effective means of restoring the uterine cavity. All seven patients not only achieved normal menstruation but also normal uterine cavity as confirmed by subsequent HSG and hysteroscopy. In addition, three patients thereafter became pregnant, two of whom have had successful term deliveries.      

Pulmonary hamartoma: CT findings

Forty-seven patients with a proved (n = 31) or presumed (n = 16) diagnosis of pulmonary hamartoma were studied prospectively by thin-section computed tomography (CT). CT criteria for hamartoma included a diameter of 2.5 cm or less, a smooth edge, and focal collections of fat or fat alternating with areas of calcification. No case of cancer (n = 283) or metastatic disease (n = 72) fulfilled these criteria. Seventeen hamartomas with no detectable calcium or fat were not diagnosed by means of CT. Two other lesions contained diffuse calcium deposits. In 28 lesions, a CT diagnosis of hamartoma was based on the detection of fat (n = 18) or calcium plus fat (n = 10). Twelve such cases were proved histologically by means of thoracotomy or needle biopsy; the remainder, including eight in asymptomatic patients aged 65 years or older, were managed with conservative follow-up.     

Molar pregnancy and living normal fetus coexisting until term: prenatal biochemical and sonographic diagnosis

The extremely rare condition of molar pregnancy with a coexisting fetus progressing to a viable infant, is reported. At 20 weeks gestational age, prenatal diagnosis was made by biochemical and sonographic findings, in which elevated free beta-human chorionic gonadotrophin (HCG, 500 ng/ml) was noted and ultrasound showed a well-defined multicystic snowstorm-like mass connecting with placenta. Chromosomal evaluation by amniocentesis was normal (46,XY) and ultrasound showed no fetal abnormalities, so the patient decided to keep the pregnancy and had no significant complications noted in the antepartal period. At 38 weeks gestational age, a Caesarean section was performed due to cephalopelvic disproportion and a 3380 g, living boy was delivered. The infant did not show any abnormality. The placenta and the connecting hydatidiform molar tissue were delivered manually. Subsequently, since persistent elevated beta-HCG was noted 2 months later, the patient was treated with chemotherapy for gestational trophoblastic disease. A normal beta-HCG concentration was noted thereafter. Prenatal differential diagnosis and postnatal management are discussed as well as the rationale for allowing the pregnancy to continue after the diagnosis at 20 weeks gestational age.