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Hypervariability generated by natural selection in an extracellular complement-inhibiting protein of serotype M1 strains of group A Streptococcus.

In many countries, M1 strains of the human pathogenic bacterium group A Streptococcus are the most common serotype recovered from patients with invasive disease episodes. Strains of this serotype express an extracellular protein that inhibits complement [streptococcal inhibitor of complement (Sic)] and is therefore believed to be a virulence factor. Comparative sequence analysis of the 915-bp sic gene in 165 M1 organisms recovered from diverse localities and infection types identified 62 alleles. Inasmuch as multilocus enzyme electrophoresis and pulsed-field gel electrophoresis previously showed that most M1 organisms represent a distinct streptococcal clone, the extent of sic gene polymorphism was unexpected. The level of polymorphism greatly exceeds that recorded for all other genes examined in serotype M1 strains. All insertions and deletions are in frame, and virtually all nucleotide substitutions alter the amino acid sequence of the Sic protein. These molecular features indicate that structural change in Sic is mediated by natural selection. Study of 70 strains recovered from two temporally distinct epidemics of streptococcal infections in the former East Germany found little sharing of Sic variants among strains recovered in the different time periods. Taken together, the data indicate that sic is a uniquely variable gene and provide insight into a potential molecular mechanism contributing to fluctuations in streptococcal disease frequency and severity.

Antigens, Bacterial↗

[The karyotypic variability of Chinese hamster CHLV-79 RJK cells characterized by multiple drug resistance resulting from the amplification of the mdr gene family].

Variability in karyotype structure of Chinese hamster lung V-79 RJK cells and of their six cell sublines, selected for increasing concentrations of ethidium bromide (EB), was investigated in addition to the number of mdr gene copies in cells, both EB sensitive and resistant. It is shown that EB resistant cells exhibit cross-resistance to different drugs resulting from mdr genes amplification. Southern DNA blot hybridization has shown that in Vebr-2 cells (the 1st step of selection) the number of mdr gene copies increased by 10 times, whereas in Vebr-30 cells (the 6th step of selection) the number of mdr gene copies remained the same as in Vebr-2 cells. The level of mdr genes expression in Vebr-30 cells being higher than in Vebr-2 cells. In Vebr-2 cells, homogeneously and differentially stained regions (HSRs) were detected in loci 1p31 and 1q26 of chromosome 1 material (markers Z1 and Z6, respectively). On the following selection steps (prolonged cultivation or increased drug concentration) additional HSRs appeared in chromosome 2 (locus 2qter), in derivatives of chromosome 5 (marker Z7, locus Z7pter) and chromosome X (marker Z2, locus Z2qter). In the course of prolonged cultivation, chromosome 2 and derivatives of chromosomes 1, 2, 5 and X, in which HSRs were found, participated in the formation of new markers resulting from deletions, inversions, insertions and translocations of the chromosomal material. It is supposed that mdr genes amplification in V-79 RJK cells resistant to EB may be regarded as a factor inducing subsequent genome destabilization and eventual progressive changes in the karyotype structure.

Animals↗

Endogenous tryptophan residues of cAPK regulatory subunit type IIbeta reveal local variations in environments and dynamics.

The amino terminal dimerization/docking domain and the two-tandem, carboxy-terminal cAMP-binding domains (A and B) of cAMP-dependent protein kinase regulatory (R) subunits are connected by a variable linker region. In addition to providing a docking site for the catalytic subunit, the linker region is a major source of sequence diversity between the R-subunit isoforms. The RIIbeta isoform uniquely contains two endogenous tryptophan residues, one at position 58 in the linker region and the other at position 243 in cAMP-binding domain A, which can act as intrinsic reporter groups of their dynamics and microenvironment. Two single-point mutations, W58F and W243F, allowed the local environment of each Trp to be probed using steady-state and time-resolved fluorescence techniques. We report that: (a) the tryptophan fluorescence of the wild-type protein largely reflects Trp243 emission; (2) cAMP selectively quenches Trp243 and thus acts as a cAMP sensor; (3) Trp58 resides in a highly solvated, unstructured, and mobile region of the protein; and (4) Trp243 resides in a stable, folded domain and is relatively buried and rigid within the domain. The use of endogenous Trp residues presents a non-perturbing method for studying R-subunit subdomain characteristics in addition to providing the first biophysical data on the RIIbeta linker region.

Amino Acid Sequence↗

A disposable vaginal speculum for the chimpanzee (Pan troglodytes).

The unanticipated underutilization of chimpanzees (Pan troglodytes) by the National Institutes of Health (NIH) for current NIH-supported research has prompted the application of a variety of contraceptive forms. Among the many methods attempted, the intrauterine device (IUD) has been described as having an efficacy similar to that described for humans. In addition, the device is both a financially sound and practical solution to prevention of overpopulation, while minimizing disruption of normal cyclic hormonal fluctuations. However, variations in the size and shape of the sexual skin of the female chimpanzee and the depth of the vaginal vault have posed physical constraints on the use of instrumentation developed for humans for assisting with insertion of the device. In addition the literature is lacking in specific methodology for pelvic examination in chimpanzees. Previously, the University of Louisiana at Lafayette New Iberia Research Center used a 3-ml plastic syringe case as a vaginal speculum to accommodate requirements of an approved research protocol in African green monkeys (Chlorocebus aethiops). Similarly, a simple and effective disposable vaginal speculum was developed for the chimpanzee. The closed tip of a plastic syringe case of appropriate size (20 to 60 ml) was removed to provide an open tube; momentary heating smoothed the cut edge. This simple speculum allowed for sufficient visualization of the cervix for assessment and assistance in the insertion of the IUD. Variously sized speculums were prepared to accommodate differences in animal size. This simple and effective speculum was clean, disposable, and inexpensive.

Animals↗

Genetic diversity and antigenic polymorphism in Plasmodium falciparum: extensive serological cross-reactivity between allelic variants of merozoite surface protein 2.

Diversity in the surface antigens of malaria parasites is generally assumed to be a mechanism for immune evasion, but there is little direct evidence that this leads to evasion of protective immunity. Here we show that alleles of the highly polymorphic merozoite surface protein 2 (MSP-2) can be grouped (within the known dimorphic families) into distinct serogroups; variants within a serogroup show extensive serological cross-reactivity. Cross-reactive epitopes are immunodominant, and responses to them may be boosted at the expense of responses to novel epitopes (original antigenic sin). The data imply that immune selection explains only some of the diversity in the msp-2 gene and that MSP-2 vaccines may need to include only a subset of the known variants in order to induce pan-reactive antibodies.

Alleles↗

Analysis of the hominoid os coxae by Cartesian coordinates.

This study is based upon 48 3-dimensional coordinates taken on 4 fossil hominid and 127 extant hominoid coxal bones. The follis include Sts 14, SK 3155, MLD 7, and MLD 25. The comparative sample consists of 42 Homo sapiens, 27 Pan troglodytes, 29 Gorilla gorilla and 29 Pongo pygmaeus. The coordinates improve the metrical representation of the bone beyond what can be done with linear measurements because the shape complexity of the os coxae is so great. The coordinates are rotated and translated so that all bones are in a standard position. The coordinates are then standardized for each specimen by dividing all coordinates by the pooled standard deviation of X, Y, and Z coordinates. These data are treated to standard statistical analyses including analysis of variance, Penrose size and shape statistics, principal coordinates and components, and canonical variates analysis. The data are then further altered by using some specimen as a standard and rotating each specimen until the total squared distance between its coordinates and those of the standard are minimized. The same statistics are applied to these "best fit" data. The results show a high degree of agreement between the methods. The hominid os coxae are dundamentally different from the other hominoids and the fossil hominids share the basic hominid configuration but with some unique differences.

Animals↗

Sensitivity, specificity, and variability of nerve conduction velocity measurements in carpal tunnel syndrome.

OBJECTIVE: To explore the diagnostic values of 8 commonly used electrodiagnostic techniques for measuring median nerve conduction velocity (NCV) in carpal tunnel syndrome (CTS). DESIGN: Sensitivity and specificity analyses. SETTING: A hospital-based electrodiagnostic laboratory. PARTICIPANTS: Forty-four normal hands and 136 symptomatic hands. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: (1) Long-segment studies: antidromic wrist-to-digit sensory NCV without subtraction, (2) short-segment studies: transcarpal palm-to-wrist mixed NCV without subtraction, and (3) 2 segment studies: antidromic transcarpal sensory NCV with subtraction (differential calculation from wrist-to-digit and palm-to-digit segments). Both onset and peak latency values were obtained for calculating the NCV. Sensitivity, specificity, and coefficient of variance were calculated for each NCV study. RESULTS: The short-segment, onset latency-based transcarpal mixed NCV yielded the highest sensitivity (75%). CONCLUSIONS: Results from measurement of a single, short-nerve segment tended to be superior to results obtained by either long-segment studies or differential subtraction between 2 segments of the same nerve in the electrodiagnosis of CTS. Explanations for our results are offered from both electrophysiologic and statistical perspectives.

Adult↗

Rapid selection of complement-inhibiting protein variants in group A Streptococcus epidemic waves.

Serotype M1 group A Streptococcus strains cause epidemic waves of human infections long thought to be mono- or pauciclonal. The gene encoding an extracellular group A Streptococcus protein (streptococcal inhibitor of complement) that inhibits human complement was sequenced in 1,132 M1 strains recovered from population-based surveillance of infections in Canada, Finland and the United States. Epidemic waves are composed of strains expressing a remarkably heterogeneous array of variants of streptococcal inhibitor of complement that arise very rapidly by natural selection on mucosal surfaces. Thus, our results enhance the understanding of pathogen population dynamics in epidemic waves and infectious disease reemergence.

Animals↗

The Mediterranean score of dietary habits in Chinese populations in four different geographical areas.

OBJECTIVE: To compare the dietary intake of Chinese people living in Pan Yu, Hong Kong, San Francisco and Sydney with respect to cardiovascular health, using the Mediterranean diet score, examining the effects of age, gender, urbanization and acculturation on the diet score. SUBJECTS: A total of 500 men and 510 women in Hong Kong were recruited as a territory-wide stratified random sample. Subjects were recruited in response to local advertisements for the other three sites: Pan Yu, 58 men, 95 women; San Francisco, 166 men, 192 women; Sydney, 95 men, 73 women. METHOD: Food-frequency questionnaire over a 7 week period. A high/healthy score was taken as > or =4 for men and >3 for women, representing a dietary pattern beneficial for cardiovascular health. RESULTS: In Hong Kong, more women in the middle age group (35-54) had a high score than other age groups, and overall more women had high scores than men. In comparing the four geographical regions, Pan Yu had the highest number of subjects with high score, and Hong Kong had the lowest. With the exception of the younger population and men in Hong Kong, the percentage of the population with a high score in all sites is greater than among elderly Greeks consuming a more traditional heart-healthy Mediterranean diet. CONCLUSION: Considerable variations in Chinese dietary patterns exist with respect to age, gender and geographic location. Overall, the Chinese diet is comparable to the Mediterranean diet and may be expected to have similar health benefits that have been documented for the traditional Mediterranean diet.

Adult↗

Structure, expression, and molecular mapping of a divergent member of the class I HLA gene family.

A class I gene distinct from HLA-A, -B, or -C was identified in a cosmid clone and transfected into mouse L cells. The gene, placed adjacent to the polyoma enhancer, produced a full-length class I mRNA and high levels of a 43-kDa protein in the cytoplasm. The surface expression of the gene product required its association with human beta 2-microglobulin. The protein was recognized by a xenoantiserum raised against a mixture of human B- and T-cell lines. The product was also serologically reactive with the HLA framework monoclonal antibodies. The complete nucleotide sequence of the gene was determined and a specific oligonucleotide probe was synthesized. This probe was used to identify a full-length mRNA transcript in a B-lymphoblastoid cell line (JY). The gene was mapped within a 190-kilobase Not I restriction fragment located in the telomeric portion of the human major histocompatibility complex. Distinct features of the gene include the structure of the promoter, the position of the translation initiation site, a frameshift mutation at the carboxyl terminus, the insertion of an Alu repeat element in the eighth exon, divergence in the derived amino acid sequence, and the lack of expression of the gene in some cells.

Amino Acid Sequence↗

Identification of a functional variant of estrogen receptor beta in an African population.

In this study, we identified five novel polymorphisms in the estrogen receptor beta (ERbeta) gene in an African population. Interestingly, two of these variants are expected to change the amino acid sequence of the ERbeta protein. These changes correspond to an isoleucine to valine substitution at amino acid position 3 (I3V) and a valine to glycine substitution at position 320 (V320G), respectively. The functional consequences of these amino acid substitutions were determined in different in vitro assays. The I3V mutation displayed no differences with regard to transcriptional activity in a reporter assay, as compared with the wild-type receptor. The V320G mutation, however, showed significantly decreased maximal transcriptional activity in a reporter assay, although its binding affinity for 17beta-estradiol was not affected. A pull-down assay indicated that the interaction of full-length TIF2 with hERbetaV320G was weaker than with hERbetawt. Moreover, surface plasmon resonance analysis revealed reduced interaction of the V320G ERbeta variant with the NR box I and II modules of TIF2. To our knowledge, this represents the first identification of a functional polymorphism in the ERbeta gene. This novel polymorphism provides a tool for human genetic studies of diseases in the African population.

Amino Acid Sequence↗

The CYP2D6 poor metabolizer phenotype may be associated with risperidone adverse drug reactions and discontinuation.

OBJECTIVE: The cytochrome P450 2D6 (CYP2D6) enzyme metabolizes risperidone. CYP2D6 poor metabolizers have no CYP2D6 activity (7% of whites and 1%-2% of other races). This study tested whether the CYP2D6 poor metabolizer phenotype was associated with adverse drug reactions (ADRs) and discontinuation due to ADRs. METHOD: Adult inpatients and outpatients were recruited from July 2000 to March 2003 including (1) 325 who were stabilized on risperidone therapy and classified as either expressing moderate-to-marked ADRs (22%, 73/325) or not (78%, 252/325) and (2) 212 who discontinued risperidone and were classified as discontinued due to ADRs (38%, 81/212) or for other reasons (62%, 131/212). Genetic tests were performed by allele-specific polymerase chain reaction and/or by the AmpliChip CYP450 microarray system for up to 34 separate CYP2D6 alleles. Two logistic regression models with dependent variables (moderate-to-marked ADRs while taking risperidone and risperidone discontinuation due to ADRs) were evaluated with respect to the CYP2D6 phenotype. RESULTS: The odds ratios (ORs) and 95% confidence intervals (CIs) for the CYP2D6 poor metabolizer phenotype in the univariate analyses and after correcting for clinical variables were (1) OR = 3.1 (CI = 1.4 to 7.0) and 3.4 (CI = 1.5 to 8.0) for moderate-to-marked ADRs on risperidone and (2) OR = 3.0 (CI = 0.85 to 10.6) and 6.0 (CI = 1.4 to 25.4) for discontinuation due to ADRs. CONCLUSIONS: The CYP2D6 poor metabolizer phenotype appears to be associated with risperidone ADRs and discontinuation due to ADRs; however, this finding requires further study in larger patient populations. The CYP3A5 and p-glycoprotein exon 21 and 26 genotypes were not significantly associated with risperidone response.

Adult↗

[Investigation on genotype constitution of different Plasmodium vivax isolates and its geographical distribution in China].

OBJECTIVE: To investigate the population constitution and geographical distribution of Plasmodium vivax in China using molecular technique. METHODS: Blood-spot filter paper samples with related epidemiological data were collected from vivax malaria patients living in malarious area of 10 provinces (autonomous region) in China. Semi-nested- or nested-allelic-specific PCR genotyping method was used to identify CSP genotypes, families and types of Plasmodium vivax of each isolate from these patients. RESULTS: Of 384 field isolates of Plasmodium vivax, 258 temperate zone family strains were identified, including 14 allelic variant genotypes spreading among 10 sampling provinces; allelic variants sized less than 731 bp were only seen in 5 provinces in southern China; 79 tropical zone family strains including 5 genotypes were also distributed in 5 provinces of southern China south to 25 degrees N. lat; and 14 PV Type-2 strains including 2 genotypes were found in some areas of Hainan and Yunnan Provinces. In addition, 33 isolates from genotype-mixed infections were revealed. CONCLUSION: At present, area north to 25 degrees N. lat. of the country is the sole area prevalent for Plasmodium vivax family strains of temperate zone; there is overlapping distribution of P. v. of temperate zone family and tropical zone family of this parasite in the southern China south to 25 degrees N. lat; where the most complex isolate constitution is in Yunnan and Hainan Provinces, and PV Type-2 strains have been found in some areas of the two provinces. Besides, there were 2 groups of genotype with distinct geographic distribution feature within the temperate zone family.

Animals↗

High prevalence of hyperuricemia in elderly Taiwanese.

Serum urate status, the prevalence of hyperuricemia and their relationship to the metabolic syndrome in elderly Taiwanese were described using data from the Elderly Nutrition and Health Survey in Taiwan (1999-2000), in which a stratified multi-stage clustered sampling scheme was applied. Complete data from biochemical assays and anthropometric measures for 1225 males and 1167 females were included in the analysis. The mean urate level and 95% confidence interval was 411 (398, 424) microM for males and 357 (347, 367) microM for females. Males had significantly higher serum urate levels than females across all age groups (P<0.05). No significant difference in mean serum urate was found among the four age groups of males. On the other hand, females of 75-79 years had significantly higher serum urate levels (376 microM) than that of the 65-69 and>or=80 age groups. The overall prevalence of hyperuricemia (>or=416.7 microM (7.0 mg/dL) in the elderly was 36% (46% for males and 26% for females). Among the participants, 4.2% of males and 1.1% of females were taking medication to lower uric acid. The elderly (males 455 microM; females 416 microM) of the Mountain areas, mainly indigenes, had the highest mean serum urate overall, however, the highest prevalence of hyperuricemia in males was found in the PengHu islands (62%) and that for females in the Mountain areas (51%). The odds ratio (OR) for hyperuricemia was 2.84 for males in the PengHu islands and 4.33 for females in Mountain areas, compared with their counterparts in the third stratum in the northern areas. Adjusting for obesity, alcohol and other related covariates did not alter the relative rank of the ORs in the various strata. Elderly males (22%) had a significantly lower rate of metabolic syndrome (MS) than females (39%) (P<0.05). For both genders, those with MS had a significantly higher mean serum urate (males 436 microM vs. 405 microM; females 389 microM vs. 338 microM) and prevalence of hyperuricemia (males 56% vs. 43%; females 38% vs.19%) (P<0.05). The population attributable risk for MS from hyperuricemia was 18.8% in men and 15.5% in women. In conclusion, the mean serum urate and prevalence of hyperuricemia in the elderly in Taiwan were higher than those found in other populations and was significantly associated with MS. Gene-environmental interaction may play a key role since great geographical variation exists within various Han Chinese groups in Taiwan and between Han Chinese and Taiwanese indigenes.

Age Factors↗

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability.

OBJECTIVE: To characterize the clinical phenotypes and identify the genetic etiology in four unrelated families affected by Turner-type X-linked intellectual disability (XLID). METHODS: Peripheral blood samples were collected from four probands and their parents. Genomic DNA was extracted, and a comprehensive genetic analysis was performed using trio-based Whole Exome Sequencing (WES) combined with low-pass Copy Number Variation sequencing (CNV-seq). Candidate variants were subsequently validated via Sanger sequencing. RESULTS: Genetic analysis identified distinct variants in the HUWE1 across the four families. Specifically, four distinct HUWE1 variants were identified across the families: a hemizygous c.10034 > T (p.Lys3345Met) in Family 1; a heterozygous c.9209G > A (p.Arg3070His) in Family 2; a heterozygous c.12688T > C (p.Phe4230Leu) in Family 3; and a hemizygous c.9070G > A (p.Ala3024Thr) in Family 4. In accordance with ACMG guidelines, the novel variants in Families 1, 3, and 4 were classified as "Likely Pathogenic" (PS2 + PM2_Supporting + PP2 + PP3). In contrast, the previously reported variant in Family 2 was categorized as "Pathogenic" based on the criteria PS2 + PM2_Supporting + PM5 + PP2 + PP3_Moderate. All probands were clinically diagnosed with Turner-type XLID. CONCLUSIONS: This study expands the pathogenic variant spectrum of HUWE1 and provides novel molecular evidence for the clinical diagnosis of Turner-type XLID. These findings are of significant value for genetic counseling, carrier screening, and prenatal diagnosis for the affected families.

Humans↗

Further morphometric studies of the ulna from the Omo Basin, Ethiopia.

A reanalysis of the L40-19 fossil ulna from the Omo Basin, Ethiopia is presented. Using covariance adjustment rather than ratios to correct metric data for variations due to body size, a comparative sample reflecting 21 contemporary Anthropoid taxa, and both distribution-free and multivariate statistical procedures, this study indicates that the earlier conclusion drawn by McHenry et al. ('76), viz., that the fossil is "unique" among Hominoids, is essentially correct. This study also concludes, however, that although the fossil is projected closer to Pan and Homo than to Pongo, the distances are considerably greater than found between behaviorally similar modern forms. Consequently, aside from assigning the fossil on morphometric grounds to the Hominoidea, little else can be said about its possible locomotor habits or its ancestry.

Animals↗

Regional dissociated heterochrony in multivariate analysis.

Heterochrony, the classic framework to study ontogeny and phylogeny, in essence relies on a univariate concept of shape. Though principal component plots of multivariate shape data seem to resemble classical bivariate allometric plots, the language of heterochrony cannot be translated directly into general multivariate methodology. We simulate idealized multivariate ontogenetic trajectories and demonstrate their behavior in principal component plots in shape space and in size-shape space. The concept of "dissociation", which is conventionally regarded as a change in the relationship between shape change and size change, appears to be algebraically the same as regional dissociation - the variation of apparent heterochrony by region. Only if the trajectories of two related species lie along exactly the same path in shape space can the classic terminology of heterochrony apply so that pure dissociation of size change against shape change can be detected. We demonstrate a geometric morphometric approach to these issues using adult and subadult crania of 48 Pan paniscus and 47 P. troglodytes. On each specimen we digitized 47 landmarks and 144 semilandmarks on ridge curves and the external neurocranial surface. The relation between these two species' growth trajectories is too complex for a simple summary in terms of global heterochrony.

Aging↗

Critical care competencies.

In the absence of nationally accepted critical care competencies, each educational institution providing critical care programmes is forced to define the essential competencies necessary for practice, leading to variations in expected practice and the emergence of 'postcode' competencies. This research report aims to build upon competency activity for all areas of nursing practice within critical care levels 1, 2 and 3. A functional analysis to elicit core critical care competency statements was conducted and a modified Delphi technique was used to generate consensus opinion from a pan-London purposive sample of nurses working in critical care. The functional analysis group identified four competency statements and elements of competencies. Consensus agreement of 80% was achieved with mean agreement scores that exceed 97%. A core critical care competency framework was refined and developed by expert nurses drawing on their own experience and knowledge of critical care nursing. The framework could be useful to: educationalists designing competency-based curricula; critical care managers as a tool for recruitment and retention and for education and training of staff; individual critical care nurses to facilitate continuous professional development.

Clinical Competence↗