Miller-Dieker syndrome and monosomy 17p13:a new case

Summary A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.     

Characterization of the cellulase complex from Cellulomonas grown on bagasse pith

Summary The effect of physico-chemical parameters on the cellulolytic activity of Cellulomonas sp. IIbc grown on sugarcane bagasse pith was investigated, and the optimum ranges for enzyme activity were established. The cellulases were more stable when incubated at the optimum growth temperature (32°C) than under optimum activity conditions (45°C for -glucosidases and 50°C for CMC- and FP-cellulases). The -glucosidases were the thermostability-limiting enzymes of the complex. Two types of endoglucanases could be recognized according to their adsorption properties on bagasse: one weakly-bound and one tightly-bound type, the latter constituting approximately 73% of the extracellular endoglucanases at exponential growth phase. Four forms active on filter paper and three active on CMC were obtained by HPLC separation of the extracellular fraction of the culture at stationary phase.Abbreviations CMC carboxymethylcellulose - FP filter paper     

Detection and quantification of patulin and griseofulvin by high pressure liquid chromatography in different strains of Penicillium griseofulvum Dierckx

Patulin and griseofulvin production by twelve strains ofPenicillium griseofulvum Dierckx, eleven of which were isolated from pistachio (Pistacia vera) nuts and the other was supplied by the Spanish Collection of Type Culture, was investigated. Six strains of the eleven isolated had ability to produce patulin and griseofulvin in Yes medium. All the strains studied had no ability to produce patulin in Wickerham medium. Griseofulvin production was significant in both media but higher in Wickerham. These metabolites were separated and determined in the chloroform extracts of cultures by high performance liquid chromatography with ultraviolet detection. The best conditions were: acetonitrile — water (45∶55) as mobile phase, a flow rate of 2.0 mL/min and a μ Bondapack C₁₈ column.     

Brain potentials associated with pattern displacement and saccadic eye movements in humans and rhesus monkeys

Visual evoked potentials (VEPs) to the onset of motion of visual patterns and brain responses associated with saccadic eye movements (SRPs) were compared in human subjects and in rhesus monkeys. Three different velocities of pattern motion were employed. In humans, brain responses were recorded from six scalp areas. In monkeys, transcortical recordings were obtained from chronically implanted electrodes in the occipital, temporo-parietal, and frontal areas. In humans there was a clear difference in VEPs to the pattern motion between the anterior (Fz, Cz) and posterior (Pz, Oz) scalp regions. The earliest component was a positive peak at 85 ms at Oz followed by a negativity around 110 ms. In the fronto-central leads the VEP was characterized by a negativity at 145 ms and a subsequent broad positive component around 250 ms. SRP responses differed in the early components from the VEPs to pattern motion but a good correspondence was found in the morphology of the late components of the two types of brain potentials. Furthermore, flashed-on VEPs and SRPs elicited a late positivity of more pronounced amplitude than VEPs to pattern displacement. In monkeys similar findings were found: an early negative component of the pattern-displacement VEP could not be observed in the SRP responses over the visual cortex while the late portion of the SRP waveform was greater than the late positivity of the VEP to motion-onset.     

Haemodynamic effects of angiotensin II in conscious, non-ascitic cirrhotic rats

The effect of angiotensin II (AII) on systemic and regional haemodynamics was studied in 18 control and 18 cirrhotic, non-ascitic conscious rats (CCl4/phenobarbital model). Cirrhotic rats were found to retain sodium and to have normal plasma renin and plasma aldosterone concentrations when compared with control animals. Cirrhotic rats showed an enhanced cardiac output (34.4 +/- 0.5 vs. 27.5 +/- 2.0 ml/min in controls) and decreased peripheral resistances (2.96 +/- 0.25 vs. 3.95 +/- 0.31 mm Hg/min/100 g/ml in controls) under basal conditions. When AII was administered cardiac output decreased by 10.7 +/- 1.2% in cirrhotic rats, whereas it increased in control animals (11.2 +/- 2%, p less than 0.005). The AII-induced increase in arterial pressure was lower in cirrhotic than in control rats. The renal blood supply was particularly impaired by AII in cirrhotics, with a maintained flow to other organs (muscle, testes). It is concluded that the response to AII is disturbed in rats with hepatic cirrhosis even in a stage without ascites and with plasma renin and aldosterone concentrations similar to those of control animals.     

Characterization of envelope antigens of influenza A (H3N2) virus isolated during 1983-1985 epidemics and from sporadic cases of infection

Ten strains of influenza A (H3N2) virus isolated from an outbreak in 1983, and ten strains isolated in 1985 from sporadic cases of infection were included in the study. For characterization of envelope antigens were used the polyclonal and monoclonal antibodies tested in the reaction of haemagglutinin inhibition, neuraminidase inhibition, and by lectin test. The strains but slightly different in the tests with polyclonal antibodies could clearly be classified to 3-4 groups using 5 monoclonal antibodies to H antigen of A/Bangkok 1/79 and A/Philippines 2/82 strains. Strains from the 1983 epidemics represent a more homogeneous group of which only one of ten strains failed to react with monoclonals of the strains A/Bangkok and A/Philippines. Strains from sporadic cases of infection in 1985, except for two strains, did not react at all with the monoclonal discriminating A/Bangkok and A/Philippines. The other strains could be classified to three groups, i.e. whether they agreed with 4, 2 or none of the A/Philippines H antigen epitopes. Alterations of neuraminidase are less apparent, and cannot be defined by means of normal immune sera. With the use of monoclonal antibodies the strains under study do not react any more with the strains of 1968-1973 influenza virus; yet the monoclonals to A/Texas/77 strain still do recognize one or two epitopes of the 1983-1985 strains.     

Interaction between the splotch mutation and retinoic acid in mouse neural tube defects in vitro

The interaction between the splotch gene (Sp) and all-trans retinoic acid (RA) was investigated using cytogenetically marked Sp/+ and +/+ mouse embryos cultured in the presence of RA. Retinoic acid retarded the development of and had a teratogenic effect on mouse embryos in culture. In particular, RA had seemingly opposite effects on the posterior neural tube, inducing abnormally early fusion in some embryos and causing a dose-dependent delay in others. When the effects of RA on identified Sp/+ and +/+ embryos were compared, the only observed difference in their responses was in the degree of the delay in posterior neuropore (PNP) closure. At the end of the culture period, among the untreated control embryos, the Sp heterozygotes showed retardation of PNP closure compared to +/+ embryos. In addition, the RA treatment was found to have induced a greater delay in posterior neural tube closure in Sp/+ than in +/+ embryos. The basis for this difference in response to RA is presumed to be the retardation of PNP closure that is caused by the Sp gene in heterozygous form. The effects of the gene and the teratogen are additive and the gene carriers thus have greater mean PNP lengths at the end of culture. Since the length of the PNP is an indication of an embryo's likelihood of developing spina bifida, this provides an explanation for the observation that Sp/+ embryos are more sensitive to the spina bifida-causing effects of RA than are +/+ embryos.     

Sensitivity of the generator of spontaneous motility in chick embryos to the acute and chronic administration of MPTP.

The acute and chronic effect of 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine (MPTP) on spontaneous motor activity and its development was studied in chick embryos. 1. From the 13th day of incubation, the acute effect of MPTP (30 mg/kg e.w., up to 60 min after administration) consisted in significant depression of spontaneous motility. From the 17th day, the effect of MPTP in supraspinal compartments of the CNS also began to participate in this depression. 2. The subacute effect of MPTP (up to 24 h after a single dose) was lethal for 11-day-old embryos. Conversely, in older embryos resting motility partly recovered, with signs of an inverse correlation to the embryo's age. The final effect, however, consisted in absolute failure of the hatching process 3. The chronic effect of MPTP (3.57 mg/kg e.w./24 h, from the 4th to the 16th day of incubation) led to a developmental reduction of spontaneous motor activity, chiefly from the 8th to 12th day of incubation. 4. The interaction of nialamide (25 mg/kg e.w.), a blocker of monoaminooxidase produced disparate results with the effect of MPTP in young and old embryos.     

Effect of tubocurarine on the central generator of embryonic spontaneous motility.

The continuous administration of d-tubocurarine (6.5 +/- 0.4 mg/kg e.w./24 h) to chick embryos from the 4th to the 12th day of incubation had a positive effect on defects produced in the development of spontaneous motility either by decentralization of the spinal cord or by chemical phenobarbital depression, or by a combination of both experimental factors. In normal embryos, d-tubocurarine had no effect on the development of spontaneous motility.