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Chromosomal identification by a G technique done in three patients with delection of the distal portion of short arms of chromosome 5; led to the consideration of the possibility that the segment responsible of the "cri du chat" syndrome is on the proximal portion of the band 5 p15.
OBJECTIVE: The objectives of this study were to determine in our newborn population the frequency of facial asymmetry during crying or congenital hypoplasia of the depressor anguli oris muscle (DAOM) without associated major malformations and to evaluate the contribution of electrophysiological studies in the diagnosis of this anomaly. PATIENTS AND METHODS: We performed a prospective study of the living newborns with facial asymmetry which did not need to be admitted to the hospital and that were delivered without the use of forceps in our hospital during 4 consecutive years. Newborn evaluation included physical examination, facial nerve electroneurography and DAOM electromyography. RESULTS: This anomaly without major malformations was present in 0.348/1,000 newborns. Electrophysiological studies demonstrated a normal latency in the facial nerve electroneurography and an absence or reduced number of motor unit potential without signs of denervation in the electromyography. CONCLUSIONS: Diagnosis of this entity is important to exclude facial nerve palsy. Only a physical examination is necessary for a correct diagnosis.
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
The aim of this study was to evaluate the composition, nutritional and toxicology safety of GM potato Spunta lines compared to that of conventional potato Spunta. Compositional analyses were conducted to measure the proximate chemical composition with references to 14 components, total solid, protein, lipid, crude fibre, ash, carbohydrate, starch, reducing sugar, nonreducing sugar, sodium, calcium, potassium, phosphorus, and ascorbic acid. Some toxins and anti-nutrients compounds were determined. Feeding study of GM potatoes line (G2 and G3) in rats were done for 30 days. Four groups of albino rats were used for studying the effect and the safety assessment of GM potatoes Spunta G2 and G3. Group (I) was fed on control basal diet, group (II) was fed on control diet plus 30% freeze-dried nongenetically modified potato Spunta, group (III) was fed on control diet plus 30% freeze-dried genetically modified potato Spunta, and group (IV) was fed on control diet plus 30% freeze-dried genetically modified potato Spunta GMO G3. There were no significant differences between GM potatoes G2, G3, and Spunta control potato line in the proximate chemical composition. The levels of glycoalkaloids in transgenic potato tubers and nontransgenic were determined and there were also no significant differences between the GM potatoes and conventional potato line, the levels were in agreement with a safety level recommended by FAO/WHO (200 mg/ kg) for acute toxicity. Protease inhibitor activity and total phenol were estimated and no significant differences between the GM potatoes line and conventional potato Spunta line were found. During the period tested, rats in each group (I, II, III, IV) grew well without marked differences in appearance. No statistical difference were found in food intake, daily body weight gain and feed efficiency. But there is a slightly significant difference in finally body weight between the control group and experimental groups. No significant difference were found in serum biochemical value between each groups, and also between relative organs weight (liver, spleen, heart, kidney, testes). From these results, it can be concluded that the GM potatoes Spunta line (G2 and G3) with Cry V gene are confirmed to have nearly the composition and biochemical characteristics as non-GM potato Spunta.
We have studied saturation transfer in hydrophilic, cross-linked copolymer gels from irradiated polymer protons to observed water protons, using f2 (ppm) profiles of [1 - (I(infinity)/I(0))], [(I(0)/I(infinity)) - 1] or 1/T(IS)(H2O), where I(0) and I(infinity) are the longitudinal magnetization of the observed water protons before and after long-time-f2-irradiation on polymer protons, respectively, and 1/T(IS)(H2O) is the cross-relaxation rate. (A) [1 - (I(infinity)/I(0))] (magnetization transfer ratio, MTR) was used in magnetic resonance imaging (MRI) as the MTR imaging. 1/T(IS)(H2O) (cross-relaxation rate) was used in the imaging of the magnetization transfer rate constant. This method was quite time-consuming compared with MTR imaging. However, f2 (ppm) profiles of [(I(0)/I(infinity)) - 1] correlated well with corresponding profiles of 1/T(IS)(H2O), because [(I(0)/I(infinity)) - 1] is equal to 1/[T(IS)(H2O)/T1(H2O)]. These results lead us to the conclusion that [(I(0)/I(infinity)) - 1] might be applicable to cross-relaxation rate (CR)-like imaging, i.e. equivalent CRI. (B) W (%) (dry weight) profiles of [(I(0)/I(infinity)) - 1] and 1/T(IS)(H2O), obtained by near-resonance f2-irradiation, seem to indicate participation of molecular rigidity and an amount of bound water. However, those values, monitored with off-resonance f2-irradiation, seem to be independent of monomer composition and to indicate mainly participation of rigidity, i.e. W (%) of copolymer gels.
The effects of several group-specific chemical reagents were examined upon the activity of the ATP-sensitive potassium (KATP) channel in the CRI-G1 insulin-secreting cell line. Agents which interact with the sulfhydryl moiety (including 1 mM N-ethyl-maleimide (NEM), 1 mM 5,5'-dithio-bis-(2-nitrobenzoic acid) (DNTB) and 1 mM o-iodobenzoate) produced an irreversible inhibition of KATP channel activity when applied to the intracellular surface of excised inside-out patches. This inhibition was substantially reduced when attempts were made to eliminate Mg2+ from the intracellular compartment. ATP 50 microM and 100 microM tolbutamide were each shown to protect against the effects of these reagents. The membrane impermeable DNTB was significantly less effective when applied to the external surface of outside-out patches. Agents which interact with peptide terminal amine groups and epsilon amino groups of lysine [1 mM methyl acetimidate and 1 mM trinitrobenzene sulfonic acid (TNBS)] and also the guanido group of arginine (1 mM methyl glyoxal) produced a Mg(2+)-dependent irreversible inhibition of KATP channel activity which could be prevented by ATP but not tolbutamide. The irreversible activation of the KATP channel produced by the proteolytic enzyme trypsin was prevented only when methyl glyoxal and methyl acetimidate were used in combination to inhibit channel activity. Radioligand binding studies showed that the binding of 3H glibenclamide was unaffected by any of the above agents with the exception of TNBS which completely inhibited binding with a EC50 of 307 +/- 6 microM. These results provide evidence for the presence of essential sulfhydryl (possibly cysteine), and basic amino acid (possibly lysine and arginine) residues associated with the normal functioning of the KATP channel. Furthermore, we believe that the sulfhydryl group in question is situated at the internal surface of the membrane, possibly near to the channel pore.
The regulation of a calcium-activated nonselective cation (Ca-NS+) channel by analogues of cyclic AMP has been investigated in the rat insulinoma cell line, CRI-G1. The activity of the channel is modulated by cyclic AMP in a complex way. In the majority of patches (83%) tested concentrations of cyclic AMP of 10 microM and above cause an inhibition of channel activity which is immediately reversible on washing. In contrast, lower concentrations of cyclic AMP, between 0.1 and 1.0 microM, produce a transient activation of channel activity in most patches (63%) tested. One group of analogues, including N6-monobutyryl cyclic AMP and N6, 2'-O-dibutyryl cyclic AMP reduced the activity of the Ca-NS+ channel at all concentrations tested and 2'-O-Monobutyryl cyclic AMP produced inhibition in all patches tested except one, at all concentrations. A second group produced dual concentration-dependent effects on Ca-NS+, low concentrations stimulating and high concentrations inhibiting channel activity. 6-Chloropurine cyclic AMP and 8-bromo cyclic AMP produced effects similar to those of cyclic AMP itself. In contrast, 8-[4-chlorophenylthio] cyclic AMP also showed a dual action, but with a high level of activation at all concentrations tested up to 1 mM. Ca-NS+ channel activity was also predominantly activated by low concentrations of Sp-cAMPS. The activating effects of both Sp-cAMPS and cyclic AMP are antagonized by Rp-cAMPS, which by itself only produced a weak inhibition of Ca-NS+ channel activity even at concentrations of 10 microM and above. The results are discussed in terms of a model in which cyclic AMP, and other cyclic nucleotides, modulate the activity of the Ca-NS+ channel by binding to two separate sites.
The nucleotide regulation of a calcium-activated nonselective cation (Ca-NS+) channel has been investigated in the rat insulinoma cell line CRI-G1. The activity of the channel is reduced by both AMP and ADP (1-100 microM) in a concentration-dependent manner, with AMP being more potent than ADP. At lower concentrations (0.1-5 microM), both ADP and AMP activate the channel in some patches. Examination of the nucleotide specificity of channel inhibition indicates a high selectivity for AMP over the other nucleotides tested with a rank order of potency of AMP > UMP > CMP > or = GMP. Cyclic nucleotides also modulate channel activity in a complex, concentration-dependent way. Cyclic AMP exhibits a dual effect, predominantly increasing channel activity at low concentrations (0.1-10 microM) and reducing it at higher concentrations (100 microM and 1 mM). Specificity studies indicate that the cyclic nucleotide site mediating inhibition of channel activity exhibits a strong preference for cyclic AMP over cyclic GMP, with cyclic UMP being almost equipotent with cyclic AMP. Cyclic IMP and cyclic CMP are not active at this site. The cyclic nucleotide site mediating activation of the channel shows much less nucleotide specificity than the inhibitory site, with cyclic AMP, cyclic GMP and cyclic IMP being almost equally active.
Workers engaged in processing tobacco for the manufacture of bidis, the most popular smoking devices in India, are exposed to tobacco dust, volatile components and flakes via nasopharyngeal and cutaneous routes. In order to evaluate the risk of occupational tobacco exposure, the complete carcinogenic action of an aqueous extract of bidi tobacco (ATE), its ability to initiate and promote skin papillomas and to convert these to carcinomas, was tested in hairless S/RV Cri-ba mice using the skin tumorigenesis protocol. Epidermal cell kinetics and tissue alterations were recorded after a single or multiple applications of ATE to 7,12-dimethylbenz[a]-anthracene(DMBA)- initiated mouse skin. While ATE did not exhibit complete carcinogenic, initiating or progressor activity, it effectively promoted skin papilloma formation in DMBA-initiated mice. An increase in papilloma yield per mouse above the control was noted only after 30 weeks of promotion, and at week 40 of promotion with 5 mg and 50 mg ATE it was significantly higher than that in the control mice (9.69 +/- 1.30 and 11.73 +/- 1.38 compared to 4.70 +/- 1.01; P < 0.01). Mild epidermal hyperplasia, increase in mitotic activity and dermal thickness induced by a single application of ATE persisted upon multiple treatment and correlated well with its tumour-promoting activity. The findings indicate that occupational exposure to bidi tobacco may pose a cancer risk among workers in the bidi industry.
In five infants with autosomal aberrations and diminished resistance to infection (in spite of intact humoral and cellular immune mechanisms) several granulocyte functions (chemotaxis, phagocytosis, intracellular killing and metabolism of killing) were measured. A serum-dependent or a cell-dependent disturbance of phagocytosis of Candida albicans was found in two infants with cat-cry syndrome and one with trisomy 18. In one of these children there was an additional serum dependent defect of the killing of Candida albicans and of Staphylococcus aureus, serum levels of opsonins (IgG, IgM, CH50 and C3) being within normal range. An infant with trisomy 21 showed, in addition to a cellular defect of chemotaxis, a reduced cellular ability of the killing of Staphylococcus aureus and of Escherichia coli in autologous and AB-pool-serum. Phagocytosis of these bacteria remained normal.
This paper describes sudden extreme drops in blood pressure in both experimental and clinical situations when a person is talking about or describing situations of hopelessness and helplessness. These changes are discussed in the context of historical perspectives about the cardiovascular system. A new perspective is introduced, one in which these blood pressure changes are seen as part of an unheard cry for understanding. It is hypothesized that such changes do not occur in response to a person's attempts to communicate a sense of hopelessness, but rather are the biological foundations of the hopelessness itself. Viewed from such a context an entirely new therapeutic approach is outlined regarding the treatment of patients suffering from a wide variety of psychosomatic as well as psychological disturbances.
The pore-formation activity of monomeric and oligomeric forms of different Cry1 toxins (from Cry1A to Cry1G) was analyzed by monitoring ionic permeability across Manduca sexta brush border membrane vesicles. The membrane vesicles were isolated from microvilli structures, showing a high enrichment of apical membrane markers and low intrinsic K(+) permeability. A fluorometric assay performed with 3,3'-dipropylthiodicarbocyanine fluorescent probe, sensitive to changes in membrane potential, was used. Previously, it was suggested that fluorescence determinations with this dye could be strongly influenced by the pH, osmolarity and ionic strength of the medium. Therefore, we evaluated these parameters in control experiments using the K(+)-selective ionophore valinomycin. We show here that under specific ionic conditions changes in fluorescence can be correlated with ionic permeability without effects on osmolarity or ionic strength of the medium. It is extremely important to attenuate the background response due to surface membrane potential and the participation of the endogenous permeability of the membrane vesicles. Under these conditions, we analyzed the pore-formation activity induced by monomeric and oligomeric structures of different Cry1 toxins. The Cry1 toxin samples containing oligomeric structures correlated with high pore activity, in contrast to monomeric samples that showed marginal pore-formation activity, supporting the hypothesis that oligomer formation is a necessary step in the mechanism of action of Cry toxins.
Heterologous DNA fragments (20-kb) associated with Cry1 crystal proteins (protoxins) from a soil-isolated Bacillus thuringiensis strain 4.0718 were isolated and analyzed. RFLP patterns of the PCR products showed that the 20-kb DNA fragments harbored cry1Aa, cry1Ac, cry2Aa, and cry2Ab genes. Furthermore, a 4.2-kb DNA fragment, which contained the promoter, the coding region, and the terminator of cry1Ac gene, was cloned from the 20-kb DNAs by PCR, and then the cry1Ac gene was expressed in an acrystalliferous B. thuringiensis strain 4Q7 by using E. coli-B. thuringiensis shuttle vector pHT3101. SDS-PAGE and microscopy studies revealed that the recombinant could express 130-kDa Cry1Ac protoxin and produce bipyramidal crystals during sporulation. Bioassay results proved that crystal-spore mixture from the recombinant was toxic to Plutella xylostella. This was the first report of cry-type genes present on 20-kb DNA associated with Cry1 protoxins of B. thuringiensis.
The influence of Bacillus thuringiensis subsp. kurstaki HD-1 spores upon the toxicity of purified Cry1Ab and Cry1C crystal proteins toward susceptible and BT-resistant Indianmeal moth (IMM, Plodia interpunctella) larvae was investigated. With susceptible larvae, HD-1 spores were toxic in the absence of crystal protein and highly synergistic (approximately 35- to 50-fold) with either Cry1Ab or Cry1C protein. With BT-resistant IMM larvae, HD-1 spores were synergistic with Cry1Ab and Cry1C protein in all three resistant strains examined. Synergism was highest (approximately 25- to 44-fold) in insects with primary resistance toward Cry1C (IMM larvae with resistance to B. thuringiensis subsp. aizawai or entomocidus). However, HD-1 spores also synergized either Cry1Ab or Cry1C toxicity toward larvae resistant to B. thuringiensis subsp. kurstaki at a lower level (approximately five- to sixfold). With susceptible larvae, the presence of spores reduced the time of death when combined with each of the purified Cry proteins. Without spores, the speed of intoxication and eventual death for larvae treated with Cry1C and Cry1Ab proteins was much slower than for the HD-1 preparation containing both spores and crystals together. Neither spores nor toxin dose affected the mean time of death of resistant larvae treated with either Cry1Ab or Cry1C toxins. Both Cry1Ab and Cry1C toxins appeared to reduce feeding and consequently toxin consumption.
The presence of two cry-like genes first identified in Clostridium bifermentans subsp. malaysia CH18 was investigated in Clostridium species including 12 subspecies of Clostridium bifermentans, 13 strains of other members of Clostridia genus, and 13 different subspecies of Bacillus thuringiensis. Oligonucleotides designed to amplify the two toxin genes, cmb71 and cmb72, were used. We found that these genes are present in 80% of the Clostridium bifermentans strains tested and in 8% of the other Clostridium and Bacillus thuringiensis strains.
With PCR products as probes, we have cloned two new cry-type genes from Bacillus thuringiensis subsp. wuhanensis. The deduced amino acid sequence of the first clone is 77.3% identical to Cry1Ga1. The deduced protein sequence of the second clone is 69.8-78.7% identical to that of Cry1B group. The nomenclature assignment of these two clones is, therefore, named Cry1Gb1 and Cry1Bd1, respectively. The Cry1Bd1 is toxic to Plutella xylostella larvae, and the Cry1Gb1 is toxic to Pieris rapae larvae.
A purified preparation of a major allergen of Japanese cedar pollen, sugi basic protein (SBP, Cry j I), was separated into 5 subfractions of 50-45 kDa. All of the SBP subfractions were confirmed to be reactive to IgE antibodies from patients with Japanese cedar pollinosis, and also to mouse anti-SBP monoclonal antibodies. The sequences of 20 N-terminal amino acids of these 5 subfractions were found to be identical. Peptide mapping analyses of the SBP subfractions showed similar patterns, with some differences which might in part be due to the existence of an N-linked carbohydrate chain. The N-terminal amino acid sequence of SBP was identical to the reported sequence of an allergen of mountain cedar which vegetated in North America.
The cribriform degeneration (cri) mutant mouse was widely studied in regard to the electrolyte and kallikrein metabolism because of its potentiality as a cystic fibrosis (CF) genetic animal model. In this paper the activity of the kallikrein-kinin system, and the kininase activity and glycoproteins concentration in colon and pulmonary lavage fluid (PLF) in homozygous mutant (cri/cri) and control sibling mice are described. The mutant mice showed a diminished kininogenase and kininase activity and glycoproteins concentrations in both studied organs. It is concluded that a kallikrein-kinin system alteration could be responsible of the cri/cri electrolyte defect.