A child trisomic for the distal part of chromosome 14q

A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.     

Nurse-controlled analgesia using a patient-controlled analgesia device: An alternative strategy in the management of severe cancer pain in children

Abstract: Nurse-controlled analgesia (NCA) using a patient-controlled analgesia (PCA) device has been described for intensive care and postoperative use. This report describes the effective use of this technique for severe episodic and procedural pain in four children with advanced malignancy and high opioid requirements where conventional parenteral analgesia had been inadequate. Both morphine and fentanyl were used. Average duration of NCA was 6.75 days (range 4–12).     

Induction of cell cycle arrest by the endogenous product of lipid peroxidation, malondialdehyde

We have investigated the effect of the endogenous genotoxin malondialdehyde (MDA) on cell cycle kinetics and the expression and biochemical activity of several cell cycle regulatory proteins. MDA treatment of two human cell lines (RKO and H1299) resulted in a 3- to 6- fold elevation in the levels of the major detectable MDA-DNA adduct, M1G-dR. The increase in M1G-dR was accompanied by irreversible cell cycle arrest, elevation in p53 and p21 protein levels, and inhibition of cyclin E- and cyclin B-associated kinase activities. The decrease in cyclin E- and cyclin B-dependent kinase activities was caused by increased p21 and decreased cdc2 levels, respectively. Comparable levels of p21 induction were observed in RKO (wild-type p53) and H1299 (p53-null) cells. Thus, MDA was able to engage cell cycle checkpoint function in human cell lines when used at concentrations that produce M1G-dR levels of the same magnitude found in human tissues.      

Recognition and management of contrast media extravasation

Intravenous contrast agents are frequent adjuncts used in diagnostic imaging. Despite the well‐recognized complications of contrast media extravasation, its treatment remains an enigma to many. This article reviews the recognition, prevention and treatment options, with a summary of the contrast media extravasation policy implemented in our department.     

Seasonal variation in human fecundability

Seasonality of effective fecundability was investigated in a cohort of 402 women born in or near Rotterdam, The Netherlands, between 1873 and 1887, and married before the age of 40 years. Applying a newly developed method allowing simultaneous control for inherent couple fecundability, numbers at risk of pregnancy, and multiple confounders, we found a trend towards higher fecundability during the first half of June and the first half of December (P = 0.06). Seasonality of effective fecundability appeared to be strongest for women who married at <20 years of age. Potentially important implications for the study of seasonality of adverse reproductive outcome are discussed.      

Reproductive risks of cocaine

Cocaine use during pregnancy in the USA has increased dramaticallyin the past decade, and has resulted in an associated increasein a variety of maternal and perinatal complications. However,a number of confounding factors make it difficult to determinethe direct impact of perinatal cocaine use on maternal and fetaloutcome. Many substance-abusing women use multiple drugs whilepregnant, receive inadequate prenatal care and are predisposedto other health problems that impact on perinatal outcome. Asa result of the rapid clearance of cocaine and limitations ofavailable screening methods, the identification of individualusers can be difficult. Furthermore, the determination of accurateprevalence rates of cocaine use during pregnancy has been frustratedby sampling bias. Cocaine has profound systemic and cardiovasculareffects in both the mother and the fetus, and as a rsult a numberof complications (i.e. fetal malformations, preterm labour,placental abruption) have been attributed to perinatal cocaineexposure. In addition, maternal cocaine use has been associatedwith a number of neonatal abnormalities, including cardio-pulmonaryeffects, somatic changes and neuro-behavioural sequelae. Itis estimated that US $500 million dollars in additional healthexpenditure resulted from increased neonatal hospital costsand longer lengths of stay for cocaine-exposed neonates. Thisarticle reviews the reproductive risks associated with prenatalcocaine use. The pharmacology and physiology of cocaine in relationto pregnancy is discussed, and the impact of this substanceon the growth and development of the fetus and infant is reviewed.     

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). In our study, we have determined the ATM mutation spectrum in 19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin. Both the protein truncation test (PTT) and the restriction endonuclease fingerprinting (REF) method were used and compared for their detection efficiency, identifying 76% and 60% of the mutations, respectively. Most patients were found to be compound heterozygote. Seventeen mutations were distinct, of which 10 were not reported previously. Mutations are small deletions or point mutations frequently affecting splice sites. Moreover, a 16.7-kb genomic deletion of the 3′ end of the gene, most likely a result of recombination between two LINE elements, was identified. The most frequently found mutation, identified in three unrelated Turkish A-T individuals, was previously described to be a Turkish A-T founder mutation. The presence of a founder mutation among relatively small ethnic population groups in Western Europe could indicate a high carrier frequency in such communities. In patients of Dutch ethnic origin, however, no significant founder effect could be identified. The observed genetic heterogeneity including the relative high percentage of splice-site mutations had no reflection on the phenotype. All patients manifested classical A-T and increased cellular radioresistant DNA synthesis. Hum Mutat 12:330–337, 1998.© 1998 Wiley-Liss, Inc.     

Clinical trial and local process evaluation of an apheresis system for preparation of white cell-reduced platelet components

BACKGROUND: A new method for the consistent preparation of white cell (WBC)-reduced plateletpheresis components, the Spectra Leukoreduction System (LRS), was evaluated by clinical trial and local process validation. The centrifuge-based system was projected to decrease the WBC content of plateletpheresis components to a level below 1 × 10(6) per unit. Phase I and II clinical trials were performed. The manufacturer's claims were then tested at the local level with an ongoing quality assurance program. STUDY DESIGN AND METHODS: In Phase I, a cross-over analysis of five subjects compared LRS to standard plateletpheresis procedures in collection efficiency and component quality: a panel of in vitro measures was taken on Day 0 and Day 5. In Phase II, the LRS process was tested on a larger scale (n = 57; control = 58) with component transfusion. Finally, validation, determination of degree of conformance with standards, and ongoing quality control were performed locally on a newly installed instrument. RESULTS: Phase I and II trials revealed no significant differences between LRS and control units in donor or recipient safety and comfort, platelet function and yield, or component volume. WBC per-unit values were significantly different: the LRS median per unit was 3.2 × 10(4) WBCs, versus 81.4 × 10(4) for control units. Assessment of process capability gave an estimate of 99-percent confidence that 99.5 percent of LRS units would be WBC reduced to < 1 × 10(6) WBCs. Local process validation and quality control revealed 90-percent confidence that 99 percent of the units would be WBC reduced and 99.9-percent confidence that 75 percent would exceed platelet yield standards; the process was stable over time. CONCLUSIONS: The LRS is safe for apheresis and the component produced is safe for transfusion with platelet function and yield equivalent to controls and WBC reduction superior to controls. Local process evaluation confirmed that component quality meets the goals of the institution.     

长瓣金莲花茎叶化学成分的研究

从长瓣金莲花(Trollius macropetalus Fr.Schmidt)的干燥茎叶中分离到五个单体,经理化常数测定和光谱分析,确定化合物Ⅰ为牡荆素-2″-O-β-D-吡喃木糖甙(vitexin-2″-O-β-D-pyranxyloside),Ⅱ为荭草素-2″-O-β-D-吡喃木糖甙(orientin-2″-O-β-D-pyranxyloside),Ⅲ为牡荆甙(vitexin),Ⅳ为荭草甙(orientin)Ⅴ为3-甲氧基-4-羟基-5-(3′-甲基-2′-)西烯基甲酸(3-methoxy-4-hydroxyl-5-(3′-methyl-2′-)butylenyl benzoic acid)。其中Ⅰ和Ⅱ系首次从金莲花属植物中获得。Ⅴ为新化合物,命名为原金莲酸(proglobeflowery acid)。