Hematological malignancies with a deletion of 11q23: cytogenetic and clinical aspects. European 11q23 Workshop participants

OBJECTIVE: Using receiver-operating characteristic (ROC) curves, we tried to determine the diagnostic threshold of amniotic fluid index (AFI) that will identify abnormal fetal size (birth weights under 2500 g or at least 4000 g) at 37 weeks or beyond. METHODS: We analyzed prospectively over 2 years all parturients with intact membranes and known AFI in early labor. Patients with the following conditions were excluded: pregestational or gestational diabetes, known anomalies, and preterm labor. Two ROC curves were constructed, and the areas (+/- standard error of the mean [SE]) under the curves were calculated. P < .05 was considered significant. RESULTS: Of the 1038 subjects meeting study criteria, 3.6% and 11.5% gave birth to infants who were small for gestational age (SGA) or macrosomic, respectively. Overall, 28.7% had oligohydramnios (AFI at most 5.0 cm) and 3.6% had hydramnios (AFI at least 24.0 cm). Small for gestational age was more common in patients with AFI at most 5.0 cm (6.4%) than in those with adequate fluid (AFI 5.1-23.9; 2.5%), or hydramnios (2.7%; P = .012). Macrosomic newborns were less likely to be born to women with oligohydramnios (7.7%) than to those with adequate amniotic fluid (13.1%) or hydramnios (13.5%). Areas under ROC curves are not significantly different from the area under the nondiagnostic line, indicating that AFI (0-34 cm) cannot differentiate between newborns under 2500 g and at or over 2500 g or under 4000 and at or more 4000 g. CONCLUSION: Intraparterium AFI appears to be a poor screening test to identify risk for delivery of SGA or macrosomic fetus.     

Alagille syndrome: family studies

Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incidence of new mutations. To determine more accurately the rate of new mutations and to develop criteria for detecting the disorder in parents we systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmological assessment, and chromosome analysis. Six parents had typical anomalies in two or more systems pointing to the presence of autosomal dominant inheritance. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counselling.     

Inhibitory effects of centrally administered somatostatin on the adrenal zona glomerulosa in male rats

Segmental zoster paresis (SZP) is the focal, asymmetrical neurogenic weakness which may occur in a limb affected by cutaneous zoster. We have summarized the features of this syndrome, based on a retrospective review of 8 personal and 96 published cases. Limb SZP becomes apparent in at least 3-5% of patients with cutaneous zoster, who are usually over the age of sixty and weak proximally (C5,6,7 or L2,3,4 innervated muscles). Functional motor recovery occurs in about 75% of cases, generally by 1-2 years. Limb weakness is probably due to a lesion of the ventral nerve root, in close proximity to the initiating dorsal ganglionitis. The electrodiagnostic findings, scarce in the literature, typically consist of absent compound sensory nerve action potentials in the involved limb, with less frequent reduction or loss of compound muscle action potentials. Fibrillations and positive sharp waves become detectable within 1-4 months in limb and related paraspinal muscles, decreasing or disappearing later. In addition to this radiculopathy, peripheral nerves may also occasionally become involved, manifest as mononeuropathies of the median, ulnar, long thoracic, recurrent laryngeal, and phrenic nerves. The zoster infection or consequent inflammatory response appears able to affect motor axons distally as well as proximally.     

Ultrasonography, CT and MRI of retropharyngeal ganglioneuroma: a very rare neoplasm in adults

Ganglioneuroma, a rare benign tumour, very occasionally presents in adult life. We report a case with the additional unusual feature of a retropharyngeal location.     

Hepatic and pancreatic effects of polyenoylphosphatidylcholine in rats with alloxan-induced diabetes

In neonatally allylestrenol treated animals in adult age a single benzpyrene treatment significantly decreases the female and significantly increases the male rat's sexual activity. Three month old females display the negative sexual behavioral effect of neonatal allylestrenol treatment less than the six month old ones. The benzpyrene treatment in adult age decreases the sexual activity of male rats. The experiments call the attention to the modifying effect of perinatal steroid treatments to similar exposure in adult age.     

Conservatism of the gap metric

It is shown by way of simple examples that the gap metric may be inappropriate for quantifying the uncertainty for lightly damped systems, e.g. flexible structures such as spacecraft and aircraft. Two plants having otherwise identical transfer functions, except that their zeros on the imaginary axis are located slightly apart due to perturbations, are usually considered very close, i.e. their closed-loop characteristics under most stabilizing feedbacks are very similar. However, it is demonstrated that when the gap is used to quantify the plant perturbations, the computed gap may be large. Consequently, the stability of the perturbed plant with a stabilizing controller designed for the nominal plant cannot be guaranteed via the existing stability theorems using the gap metric     

Cost-benefit analysis of power system reliability: two utility casestudies

There is an emerging recognition that utility investments and other decisions that affect electric service reliability should be explicitly evaluated on the basis of their cost and benefit implications. A cost-benefit approach that quantifies the reliability benefits of alternatives in terms of the reduction in costs resulting from unserved energy enables the evaluation of generation and transmission capacity additions on a consistent, economic basis. This approach has been applied to two utility case studies. In a case study for Pacific Gas and Electric Company, it was used to evaluate three options for maintaining reliability in a major load center-two involving local generation, and the third, a new 230 kV transmission connection. In a case study for Duke Power Company, the approach was used to evaluate alternative designs for proposed additions to a transmission station. This paper describes the methodology and presents the two utility studies