Synchrotron radiation photoionization mass spectrometry of laser ablated species

The present paper describes an experimental apparatus suitable to create and study free clusters by combining laser ablation and synchrotron radiation. First tests on sulfur samples, S, showed the production, through laser ablation, of neutral Sn clusters (n = 1–8). These clusters were ionized using synchrotron radiation at photon energies from 160 eV to 175 eV, across the S 2p core edge. The feasibility of such combined ablation–synchrotron radiation experiments is demonstrated, opening new possibilities on the investigation of free clusters and radical

Competition of IL-1 and IL-1ra determines lymphocyte response to delayed stimulation with PHA.

BACKGROUND: Human peripheral blood mononuclear cells (PBMC) left in microcultures for 24h without mitogen do not respond to subsequent stimulation with PHA. They regain reactivity if the native culture medium is absorbed with other party lymphocytes or partially replaced with the medium from a PHA-stimulated culture. The observations suggest that, during the incubation, some inhibitory agent had accumulated in the culture medium. AIM: The study was performed to determine the nature of the observed phenomenon in respect of the possible role of monocytes and their products IL-1 and IL-1 receptor antagonist (IL-1ra), and to test for immunodiagnostic purposes the significance of quantifying the lymphocyte response to delayed stimulation with PHA in patients suffering from inflammatory prosesses. METHODS: Lymphocyte response to delayed stimulation with PHA, calculated as the lymphocyte-monokine interaction (LM) index, was determined in the microcultures of PBMC isolated from the blood of healthy donors or of patients with acute tonsilitis. The values of LM indices were compared with the ratios of IL-1ra/IL-1beta concentration estimated by enzyme-linked immunosorbent assay method in the culture supernatants. The influences of exogenous IL-1beta, IL-1ra, anti-IL1ra antibodies and antibiotic cefaclor on the monokine concentrations and on the values of LM index were tested. RESULTS AND CONCLUSIONS: The results show that the level of lymphocyte response to delayed stimulation with PHA (LM index) is inversely proportional to the ratio of IL-1ra/IL-1beta concentration in the culture. The low LM values at high IL-1ra/IL-1beta ratios in PBMC cultures from healthy donors, reversed proportions found in patients' PBMC (acute tonsilitis), and the cefaclor-induced reduction of LM value with correlated increase of the IL-1ra/IL-1beta ratio suggest that the LM assay may prove to be useful for immunodiagnostic purposes

Ossa Sesamoidea — prevalence of sesamoid bones in human hands

Background: This study describes the morphology of sesamoid bones in the human hand. Ultrasound imaging was used to record the presence and measurements of sesamoids in 120 hands of 60 healthy, young adults of Caucasian ethnicity. Materials and methods: The mean number of sesamoid bones was 4.16 in the left hand and 4.03 in the right hand. 21.6% of cases showed asymmetry between the right hand and the left. There was a significant difference in the prevalence of sesamoid bones between right and left hand in males in this study. Females show a higher incidence of sesamoid bones overall, but do not demonstrate a significant difference between the sides. Results: Prevalence findings: Two in the 1st metacarpophalangeal joint (MCPJ) in 99.2% of cases, with 1 case of a single bone. One in the 2nd MCPJ in 43.3% of cases. One in the 5th MCPJ in 84.2% of cases. One in the 1st interphalangeal joint (IPJ) in 83.4% of cases. Aside from that there was 1 case of sesamoid in the 3rd MCPJ and separate case of sesamoid in the 3rd proximal IPJ. Conclusions: Moreover, this study discusses discrepancies of opinion regarding sesamoid bones in morphological research

The sonographic morphology of musculus palmaris longus in humans

Background: The aim of this work was to describe morphology and morphometry of musculus palmaris longus and compare the outcome of Shaeffer’s test with ultrasound imaging.Materials and methods: Forty forearms of 20 healthy volunteers (11 females, 9 males) were tested by Shaeffer’s test and ultrasound imaging. Anthropological measurements of the forearm and ultrasound guided measurements of musculus palmaris longus were taken. The outcome was tested for statistical significanceby Fisher’s test.Results: The examination revealed agenesis of palmaris longus in 6 cases, as well as 6 muscles showing quality variations. The Shaeffer’s test gave 4 false-negative results. 28 muscles were described as spindle-shaped and 8 as pennated or bipennated. However, all the spindle-shaped muscles demonstrated a tendon going inside of the muscle’s belly ranging from 2 cm to 11.5 cm. The relation between the circumference of the forearm right below the elbow (mean: 15.38 cm, SD: 1.83 cm) and the approximated volume of the palmaris longus muscle’s belly(mean: 4.72 cm3, SD: 1.57 cm3) proved to be statistically significant (Fisher’s test p-value < 0.05).Conclusions: Uncommon morphological variations have been shown. Spindle-shaped muscles have proved to have their tendons continued inside them. Palmaris longus muscle’s belly has proved to take significant amount of volume within the proximal forearm. Shaeffer’s test has shown to have 10% false-negative ratio

Eksploatacja techniczna CA. Przegląd Zagadnień Łączności, 1967, nr 8 (71)

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Effect of three common SNPs in 5′-flanking region of LEP and ADIPOQ genes on their expression in Polish obese children and adolescents

Genes encoding adipokines are considered as candidates for human obesity. In this study we analyzed the expression of leptin (LEP) and adiponectin (ADIPOQ) genes in relation to common 5′-flanking or 5′UTR variants: -2548G>A (LEP), 19A>G (LEP) and -11377C>G (ADIPOQ) in Polish obese children and adolescents. Relative transcription levels in the subcutaneous adipose tissue (real time RT–PCR) and serum protein concentrations (RIA) were measured in 48 obese subjects with known genotypes at three polymorphic sites and in five non-obese controls. None of the studied polymorphisms altered significantly the expression. Significantly elevated relative transcription levels of the LEP gene (P < 0.05) and serum leptin concentrations (P < 0.01) were recorded in obese patients, when compared with the non-obese controls, but such differences were not found for the ADIPOQ gene. Interestingly, the leptin to adiponectin protein concentration ratio (L/A) was approximately sevenfold higher in obese children and adolescents when compared with the non-obese controls (P < 0.001). Taking into consideration the observed relationship between the genotypes and the gene expression level we suggest that these SNPs are not conclusive markers for predisposition to obesity in Polish children and adolescents. On the other hand, we confirmed that the leptin to adiponectin gene expression ratio (L/A) is an informative index characterizing obesity

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Most new mutations are observed to arise in fathers, and increasing paternal age positively correlates with the risk of new variants. Interestingly, new mutations in X-linked recessive disease show elevated familial recurrence rates. In male offspring, these mutations must be inherited from mothers. We previously developed a simulation model to consider parental mosaicism as a source of transmitted mutations. In this paper, we extend and formalize the model to provide analytical results and flexible formulas. The results implicate parent of origin and parental mosaicism as central variables in recurrence risk. Consistent with empirical data, our model predicts that more transmitted mutations arise in fathers and that this tendency increases as fathers age. Notably, the lack of expansion later in the male germline determines relatively lower variance in the proportion of mutants, which decreases with paternal age. Subsequently, observation of a transmitted mutation has less impact on the expected risk for future offspring. Conversely, for the female germline, which arrests after clonal expansion in early development, variance in the mutant proportion is higher, and observation of a transmitted mutation dramatically increases the expected risk of recurrence in another pregnancy. Parental somatic mosaicism considerably elevates risk for both parents. These findings have important implications for genetic counseling and for understanding patterns of recurrence in transmission genetics. We provide a convenient online tool and source code implementing our analytical results. These tools permit varying the underlying parameters that influence recurrence risk and could be useful for analyzing risk in diverse family structures

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1 , SIX6 , and OTX2 resulting from a complex chromosomal rearrangement

We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either branchiootorenal syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an ∼11.79 Mb duplication of chromosome 14q22.3–q23.3 and a loss of an ∼4.38 Mb sequence in 13q21.31–q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3–q23.3 contains 51 genes, including SIX1 , SIX6 , and OTX2 . A locus for branchiootic syndrome (BOS) has been mapped to 14q21.3–q24.3, and designated as branchiootic syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1 , SIX6 , or OTX2 may be responsible for the BOR and OAVS-like features in this family. © 2008 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/60991/1/32398_ftp.pd

Dissociative photoionization of the NO molecule studied by photoelectron-photon coincidence technique

Low-energy photoelectron–vacuum ultraviolet (VUV) photon coincidences have been measured using synchrotron radiation excitation in the inner-valence region of the nitric oxide molecule. The capabilities of the coincidence set-up were demonstrated by detecting the 2s−1 → 2p−1 radiative transitions in coincidence with the 2s photoelectron emission in Ne. In NO, the observed coincidence events are attributed to dissociative photoionization with excitation, whereby photoelectron emission is followed by fragmentation of excited NO+ ions into O+ + N* or N+ + O* and VUV emission from an excited neutral fragment. The highest coincidence rate occurs with the opening of ionization channels which are due to correlation satellites of the 3σ photoionization. The decay time of VUV photon emission was also measured, implying that specific excited states of N atoms contribute significantly to observed VUV emission