Necrotizing enterocolitis. Controlled study of 3 years' experience in a neonatal intensive care unit

During the 3 years 1972-74, 17 infants were treated for necrotizing enterocolitis (NEC) in the Neonatal Unit at University College Hospital. The incidence of the illness was 0.2% of live births in the hospital and 2.7% of those referred from elsewhere. The mean birthweight of the affected infants was 1832 g (range 878-3850 g) and mean gestational age 33 weeks (range 28-40 weeks). The illness was diagnosed at a mean age of 16 days (range 3-33 days). 14 infants (82%) survived. One infant developed NEC because of a volvulus, and another because of an apparently abnormal arterial supply to a segment of bowel. Each of the remaining 15 infants was matched with 3 control infants in order to see whether any factors predisposing to the development of NEC could be identified. Birth asphysia, the use of umbilical catheters, the length of time that these catheters were in place, and complications of catheterization were all significantly more frequent in the infants who developed NEC than in the controls. These findings support the view that hypoxia and ischaemia of the gut wall are important in the pathogenesis of NEC.     

Defect of platelet function associated with chronic hypoglycaemia

Two patients are described with chronic hypoglycaemia; the first having glucose-6-phosphatase deficiency (type I glycogen storage disease), and the second fructose 1:6-diphosphatase deficiency. Both cases were associated with a bleeding diathesis, a defect of platelet aggregation, and a deficiency of platelet adenine nucleotides. The effect on the platelet abnormalities of a period of normoglycaemia was studied in both patients. Correction of the platelet abnormalities occurred rapidly after stabilization of the blood glucose within the normal range. Normal function persisted for the duration of the normoglycaemia, facilitating diagnostic liver biopsy and surgical procedures. A biochemical explanation for the nucleotide deficiency is suggested.     

Ciprofloxacin treatment of bacterial endocarditis involving prosthetic material after cardiac surgery

Two children with cyanotic congenital heart disease and Gram negative bacterial infection of prosthetic material after cardiac surgery were treated successfully with oral ciprofloxacin, initially in combination with netilmicin. The use of oral ciprofloxacin allowed prolonged outpatient treatment to be given, avoiding the need for intravenous access and early repeat surgery.     

Heavy caffeine intake in pregnancy and sudden infant death syndrome. New Zealand Cot Death Study Group

AIMS: To examine the association between maternal caffeine consumption during pregnancy and the risk of sudden infant death syndrome (SIDS). METHODS: A nationwide case-control study surveying parents of 393 SIDS victims and parents of 1592 control infants. Caffeine consumption in each of the first and third trimesters was estimated by questionnaire. Heavy caffeine intake was defined as 400 mg/day or more (equivalent to four or more cups of coffee per day). RESULTS: Infants whose mothers had heavy caffeine consumption throughout their pregnancy had a significantly increased risk for SIDS (odds ratio 1.65; 95% confidence interval 1.15 to 2.35) after adjusting for likely confounding factors. CONCLUSION: Caffeine intake has been associated with fetal harm and now SIDS. Reducing heavy caffeine intake during pregnancy could be another way to lessen the risk of SIDS. This needs confirmation by others.     

Cytolytic T lymphocyte function is independent of growth phase and position in the mitotic cycle

We have investigated mitotic cell cycle and growth phase regulation of homogeneous cytolytic T lymphocytes (CTL). Two independently derived CTL clones were stained with the DNA-binding dye Hoechst 33342, sorted in a fluorescence-activated cell sorter according to their position in the cell cycle, and then assayed for specific lytic activity using a short-term (30 min) (51)Cr release assay. Results show that lytic activity remained unchanged throughout the cell cycle. Furthermore, there was no significant difference in the lytic activity of CTL clones growing exponentially or arrested in a plateau phase. These results demonstrate that T cell-mediated cytolysis is independent of growth phase and position in the cell cycle.     

Painful spondylolysis or spondylolisthesis studied by radiography and single-photon emission computed tomography

Planar bone scintigraphy (PBS) and single-photon emission computed tomography (SPECT) were compared in 19 adults with radiographic evidence of spondylolysis and/or spondylolisthesis. SPECT was more sensitive than PBS when used to identify symptomatic patients and sites of "painful" defects in the pars interarticularis. In addition, SPECT allowed more accurate localization than PBS. In 6 patients, spondylolysis or spondylolisthesis was unrelated to low back pain, and SPECT images of the posterior neural arch were normal. The authors conclude that when spondylolysis or spondylolisthesis is the cause of low back pain, pars defects are frequently heralded by increased scintigraphic activity which is best detected and localized by SPECT.     

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27

Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent strokes and/or seizures. A significant fraction of cases is inherited as an autosomal dominant trait with incomplete penetrance. Among Hispanic Americans, virtually all CCM is attributable to a founder mutation localized to 7q ( CCM1 ). Recent analysis of non-Hispanic Caucasian kindreds, however, has excluded linkage to 7q in some, indicating at least one additional CCM locus. We now report analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial CCM. In addition to linkage to CCM1, analysis of linkage demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus). Multipoint analysis among families with high posterior probabilities of linkage to each locus refines the locations of CCM2 and CCM3 to approximately 22 cM intervals. Linkage to these three loci can account for inheritance of CCM in all kindreds studied. Significant locus- specific differences in penetrance are identified. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the molecular basis of this disease.      

A simple method for screening bacterial colonies for mutagenized sites in plasmid DNA.

Because of the multiple-step process that is involved in the detection of mutagenized restriction enzyme sites in plasmid DNA, a simple and accurate method was developed to analyse the plasmid DNA of site-directed mutagenesis experiments from bacterial colonies. The desired mutated part is located between the Eco RI restriction site on pUC19. Two mutagenic primers were designed to replace only one nucleotide on segments A and B of the bi-segmented genome of infectious bursal disease virus (IBDV). Two restriction sites were created for those mutations in each segment, Fsp I and Dra I, respectively. Following a protocol from the site-directed mutagenesis kit, the mutated plasmids were used to transform, and were propagated and maintained in DH5 alpha competent cells. Colonies were picked from the master plate, and used as DNA template for PCR. The PCR technique included the design of two pairs of primers, one for each segment, which were to amplify a region up to 1000 bp. Samples were pre-incubated for 3 min at 94 degrees C to induce bacterial lysis before starting the nucleic acid amplification. The PCR products 918 bp from segment A and 650 bp from segment B were digested with Fsp I and Dra I at 37 degrees C for 1 h. Products were resolved on 0.9% agarose gel which contained ethidium bromide. This method is simpler, faster and more accurate than the traditional method of mini-prep plasmid isolation and colony blot hybridization to identify the mutated plasmids.