Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to characterize the clinical and molecular aspects of the syndrome. Recent advances in cytogenetic technology, particularly FISH, have greatly improved the ability to identify 1p36 deletions and have allowed a clearer definition of the clinical phenotype and molecular characteristics of this syndrome. We have identified 14 patients with chromosome 1p36 deletions and have assessed the frequency of each phenotypic feature and clinical manifestation in the 13 patients with pure 1p36 deletions. The physical extent and parental origin of each deletion were determined by use of FISH probes on cytogenetic preparations and by analysis of polymorphic DNA markers in the patients and their available parents. Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (92%), growth delay (85%), pointed chin (80%), eye/vision problems (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or short fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior (56%), thickened ear helices (53%), and deep-set eyes (50%). FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap.     

Response of the functional system of respiration to the cyclic changes of the hormonal state in women

Elderly cataract patients frequently have comorbid multisystem disease. Local or regional anesthesia is provided to reduce complications of retrobulbar infiltration. Performing painless eye blocks without sedation is probably the safest route.     

Change of light holes valence band in lead-tin telluride films by isovalent substitution of chalcogen atoms

Rotational weak-field magnetoresistance measurements at 78 K were used to determine the parameters of the valence band of light holes for Pb_0.8Sn_0.2Te and Pb_0.8Sn_0.2Te_0.98S_0.02 epitaxial films grown on (111)-oriented BaF₂. It was shown that an isovalent substitution of 2% of tellurium atoms by sulphur atoms in solid solution films of lead telluride-tin telluride leads to the decrease of the energy splitting value of valence band valleys Δσ_v from 18 meV to 2 meV. The physical reasons for this phenomenon were analysed. Obtained experimental data were compared with the results of other experiments on photoluminescence and concentration dependencies of thermoEMP coefficient.     

Stigma and ageism: compounding influences in making an accurate mental health assessment

Sixty-five coronary patients were subjected to aortocoronary bypass surgery. Three groups were distinguished: 1) controls-no filters; 2) patients in whom hemotransfusion (40 mu) and infusion filters were used during and on day 1 after surgery; and 3) in whom leukocyte filters for filtering residual perfusate from artificial circulation device were used in addition to the filters used in group 2. In the controls plasma level of leukocytic alpha-glycoprotein after artificial circulation increased 22 to 36 times, whereas in groups 2 and 3 it did not increase at all. After surgery the severity of leukocytosis, hyperthermia, and hyperenzymia assessed from the level of SGOT was reliably lower in patients in whom the filters were used. The time course of the oxygenation index (PaO2/FiO2) indicated an improvement of gas exchange due to filtration of infusion-transfusion media. The minimal values of PaO2/FiO2) and plasma content of C-reactive protein were observed in group 3. The mechanisms of systemic inflammatory reaction and organ dysfunction and some aspects of the protective effect of filters are discussed.     

Textural and structural transformations in nonoriented electrical steel

The structure and texture in sheets of nonoriented electrical steel of different chemical composition have been studied at different stages of technological processing. It has been shown that the use of prerecrystallization annealing between the cold-rolling passes leads to an increase in the average size of grain in the finished steel.     

Synthesis and screening of thin films in the CeCl3-CeBr3 system for scintillator applications

Thin film samples of CeCl₃, CeBr₃, and combinatorial compositions along the CeCl₃-CeBr₃ join were produced using thermal evaporation, which is being evaluated as a method for rapid screening of scintillator materials. The combinatorial thin films were shown to be compositionally reproducible from run-to-run within reasonable limitations. Analytical results suggest a continuous variation in the combinatorial samples in terms of their compositions, crystal structures, and luminescence characteristics.     

Effect of water-extraction on characteristics of melting and solidification of fly ash from municipal solid waste incinerator

This study was conducted to investigate the effect of water-extraction process on the removal of major elements and heavy metals in the fly ash from Municipal Solid Waste Incinerator (MSWI), and their thermal stability in the following melting process. The water-extraction was first applied to extract soluble elements and heavy metals from the fly ash from MSWI at different liquid-to-solid rates (L/S) of 2, 5, and 10, respectively. The extracted fly ash and the raw fly ash were then melted at the temperatures of 1000-1350 degrees C in an electrically heated furnace. The results showed that the compounds of Ca, Na, K, and Cl achieved high removal rates of 30.7-72.8% at L/S=10, respectively, Cr was the most extractable heavy metal with removal rate of 12.3% among the several heavy metals tested. The water-extracted fly ash had better stability as compared to raw one, which was indicated by lower weight loss and better immobilization ability of heavy metals such as Zn, Cu, and Pb in the melting process. The results showed that combing water-extraction and melting process could provide one of the alternatives for treating MSWI fly ash in China for reutilization.     

Edible mushroom (Agaricus bisporus) lectin, which reversibly inhibits epithelial cell proliferation, blocks nuclear localization sequence-dependent nuclear protein import

The Galbeta1-3GalNAcalpha (TF antigen)-binding lectin (ABL) from the common edible mushroom (Agaricus bisporus) has a potent anti-proliferative effect without any apparent cytotoxicity. This unusual combination of properties prompted investigation of its mechanism of action. In contrast to soluble lectin, agarose-immobilized, and hence noninternalizable ABL had no effect on proliferation of HT29 colon cancer cells. Electron microscopy of HT29 cells incubated with fluorescein- and gold-conjugated ABL showed internalization of the lectin into endocytotic vesicles and multivesicular bodies. Confocal microscopy showed perinuclear accumulation of fluorescein isothiocyanate-conjugated lectin, which also inhibits HT29 cell proliferation, raising the possibility that the lectin might interfere with nuclear pore function. Transport of heat shock protein 70 into the nucleus in response to heat shock was blocked by preincubation of HT29 cells for 6 h with 40 micrograms/ml ABL. In digitonin-permeabilized cells, nuclear uptake of bovine albumin conjugated to a nuclear localization sequence (NLS)-containing peptide was also inhibited by a 15-min preincubation with 40-100 micrograms/ml ABL. In contrast, serum-stimulated nuclear translocation of mitogen-activated protein kinase, which is NLS-independent, was not affected by pretreatment of cells with the lectin. These results suggest that the anti-proliferative effect of ABL is likely to be a consequence of the lectin trafficking to the nuclear periphery, where it blocks NLS-dependent protein uptake into the nucleus.     

Guanidinium-based potentiometric SO2 gas sensor

An SO2 gas sensor was developed by using a hydrogen sulfite-selective electrode positioned behind a gas-permeable membrane (GPM). The hydrogen sulfite-selective electrode was prepared by incorporating a multicyclic guanidinium ionophore in a plasticized poly(vinyl chloride) membrane. This gas sensor presents important advantages over the conventional Severinghaus-type SO2 gas sensor that contains a pH electrode immersed in an internal solution behind the GPM. The Severinghaus gas sensor suffers interferences from weak acids that can cross the GPM as gases and change the pH of the internal solution. In contrast, in the proposed sensor, the excellent selectivity of the HSO3- electrode and the ability of the GPM to discriminate gaseous from nongaseous species combine to generate the most selective potentiometric SO2 gas sensor reported to date.