Aetiology of the skeletal dysmorphology syndrome campomelic dysplasia: expression of the Sox9 gene during chondrogenesis in mouse embryos.
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Animals↗
Biomedical subjects
E Wright
Publications and source records attributed to E Wright.
A polymorphic and hypervariable locus in the pseudoautosomal region of the CBA/H mouse sex chromosomes.
We have identified a genomic locus (DXYH1) that is polymorphic and hypervariable within the CBA/H colony. Using a panel of C57BL/6 x Mus spretus backcross offspring, it was mapped to the distal end of the X chromosome. Pseudoautosomal inheritance was demonstrated through three generations of CBA/H x CBA/H and CBA/H x C57BL/6 crosses and confirmed through linkage to the Sxr locus in X/Y Sxr x 3H1 crosses. Meiotic recombination frequencies place DXYH1 similar 28% into the pseudoautosomal region from the boundary. The de novo generation of CBA/H variant DXYH1 restriction fragment length polymorphisms during spermatogenesis is suggestive of the germline instability associated with hypermutable human minisatellites. The absence of DXYH1-related sequences in Mus spretus provides DNA sequence evidence to support the observed failure of X-Y pairing during meiosis and consequent hybrid infertility in C57BL/6 x Mus spretus male F1 offspring.
Animals↗
Co-amplification to tail-to-tail copies of MuRVY and IAPE retroviral genomes on the Mus musculus Y chromosome.
We have isolated a clone from a C57BL/6 genomic library that contains both part of the Y Chromosome-specific 8.7 kbp MuRVY genome (Hutchinson and Eicher, J. Virol. 63, 4043, 1989) and a full-length 8.3 kbp Intracisternal A Particle genome (IAPE-Y), in a tail-to-tail organization. Although IAPs are encoded by a disperse multigene family (approximately 1000 copies per haploid genome), we present evidence that a significant proportion of the IAP-related sequences are present on the Y Chromosome (Chr) and that a >25 kbp genomic sequence, which contains the two proviral genomes, has been amplified on the Y Chr. Two discrete amplified families of MuRVY retroviral genomes distinguishable by a polymorphic restriction site were detected, suggestive that amplification occurred in incremental stages. The presence of MuRVY-related DNA sequences, but absence of IAPE-Y-related DNA sequences in Mus spretus suggests that the IAPE-Y retrotransposition event occurred after the evolutionary divergence of the lineages leading to Mus musculus and Mus spretus, and that the amplification of MuRVY occurred independently in the two lineages.
Animals↗
Exclusion of Sox9 as a candidate for the mouse mutant tail-short.
The Sry-related gene Sox9 has been proposed as the gene responsible for the mouse skeletal mutant Tail-short (Ts), on the basis of its expression in skeletogenic mesenchymal condensations in the mouse embryo and its chromosomal location in the region of Ts on distal Chromosome (Chr) 11. We present here detailed mapping of Ts locus relative to the Sox9, using an intersubspecific cross. Among 521 backcross progeny, 16 recombinants were detected between Sox9 and Ts, suggesting a separation of 3.5 +/- 0.01 cM, and excluding Sox9 as a candidate for Ts. A further nine recombinants were detected between Ts and the polycomb-like gene M33, suggesting that these loci are separated by 1.8 +/- 0.011 cM. Six microsatellite markers were co-localized to the Ts locus, providing reagents for positional cloning of Ts.
Animals↗
Pattern of growth in children with cerebral palsy.
OBJECTIVE: To provide a growth reference standard for children with quadriplegic cerebral palsy (QCP). Growth references specific to children with cerebral palsy would facilitate uniformity in clinical appraisal of their growth and nutritional status and would simplify comparative interpretation of growth data. DESIGN: Weights and lengths were obtained according to standardized procedures. Measurements were taken at time of visit to an orthopedic clinic and from retrospective review of charts. SUBJECTS: Three hundred sixty children with QCP. Growth data were based on 1,630 observations. ANALYSIS: Growth curves representing the 10th, 50th, and 90th percentiles were estimated using a smoothing splines technique. Statistical bootstrapping was performed to confirm significant differences from the growth charts of the National Center for Health Statistics (NCHS). RESULTS: Growth charts were constructed for boys and girls, aged 0 to 120 months, depicting length for age, weight for age, and weight for length. Average differences in length for age, weight for age, and weight for length between children with QCP and NCHS standards were -2.3 z, -2.4 z, -1.3 z for boys, and -2.1 z, -2.1 z, -1.1 z for girls. Children with QCP fell progressively behind in stature and weight. Compared with their NCHS counterparts, they were 5% shorter at 2 years of age and more than 10% shorter at 8 years of age. APPLICATION: Charts representing the pattern of growth in children with QCP should be accessible to parents and health care professionals to facilitate evaluation and monitoring of nutritional status.
Anthropometry↗
Infectivity of a Cryptosporidium species isolated from a domestic cat (Felis domestica) in lambs and mice.
Two neonatal lambs were inoculated orally with purified Cryptosporidium species oocysts isolated from a farm cat. Oocysts first appeared in the faeces of the two lambs three and 10 days after infection. Two distinct sizes of oocysts were observed in the faeces of both the cat and the lambs, the smaller measuring approximately 5.0 x 4.5 microns and the larger measuring approximately 6.0 x 5.0 microns in diameter. The smaller type predominated. Histological examination of the alimentary tract of the lambs revealed endogenous stages of Cryptosporidium in the epithelial borders of the ileum. In addition, Cryptosporidium oocysts were detected in impression smears from the jejunum, ileum, caecum and colon. Suspensions of 10(3) oocysts from the faeces of the farm cat were inoculated into each of 10 newborn mice and 10(4) oocysts from the two experimentally infected lambs were inoculated into each of 20 newborn mice. Cryptosporidium oocysts were detected in gut homogenates from 19 of the 20 mice inoculated with oocysts from the lambs but in none of the mice inoculated with oocysts from the cat.
Animals↗
Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer.
We have investigated the occurrence of attenuated extracolonic manifestations (AEMs) of familial adenomatous polyposis (FAP) in patients with non-polyposis colorectal cancer. In a prospective case-control study, we observed that significantly more colorectal cancer patients exhibited AEM than did age and sex-matched controls (19.5% vs 7.5%, P < 0.004). However patients with AEMs do not have occult FAP, as we found no heterozygous adenomatous polyposis coli (APC) gene mutations despite extensive analysis of constitutional DNA. Genome-wide DNA replication errors (RERs) occur in a proportion of colorectal cancers, particularly right-sided lesions and in almost all tumours from hereditary non-polyposis colorectal cancer (HNPCC) patients. As AEMs have been reported in familial colon cancer cases, we investigated the relationship of AEMs to tumour RER phenotype. There was indeed an excess of AEMs in patients with right-sided tumours (30.2% of 53 patients vs 14.7% of 116 patients, P < 0.03) and in those with RER tumours (3 out of 12 patients with RER tumours vs none out of 21 patients with non-RER tumours, P < 0.05). Two patients with AEM were from HNPCC families compared with none of those without AEM (P < 0.05). The association of AEMs with colorectal cancer is intriguing, and we speculate that it may be a manifestation of mutational mosaicism of the APC gene, perhaps associated with a constitutional defect in DNA mismatch pair.
Adenomatous Polyposis Coli↗
Response of families to two preventive intervention strategies: long-term differences in behavior and attitude change.
OBJECTIVE: To explore the long-term impact of two forms of preventive intervention designed to diminish risk to children in families in which one or both parents suffered from affective disorder. METHOD: Fifty-four parents in 18 families were initially assessed and randomly assigned to one of two interventions--a clinician-facilitated, manual-based, psychoeducational preventive intervention or a standardized lecture-group discussion in which similar educational information was presented. Assessments included standard diagnostic interviews, child behavior scales, and semistructured interviews with parents about the effects of the intervention. Follow-up assessments were conducted three times over the 3-year follow-up interval. RESULTS: No harmful effects were reported for either intervention, and ratings of degree of upset about reported concerns declined across time for both conditions. Families receiving the clinician-facilitated intervention reported more behavior and attitude changes than did lecture-group families when assessed after intervention. The difference between the two groups was sustained at further follow-up assessments. CONCLUSION: Although both preventive interventions produced changes in behaviors and attitudes, parents in the clinician-facilitated intervention reported more benefit. These data support the hypothesis that linking cognitive information to the family's life experience produces long-term changes.
Adolescent↗
Eye patch treatment for the pain of corneal abrasion.
The traditional use of patching and topical antibiotics in the treatment of corneal abrasion has recently been challenged, particularly after foreign body removal. In a prospective, controlled, randomized study of 33 patients treated in the emergency department for eye pain and corneal abrasion, we attempted to determine whether eye patching affected the pain of simple corneal abrasions. After fluorescein examination with magnification (x 5), a visual analog pain score was recorded and the patient was randomized to either the patched or nonpatched group. A standard analgesic was supplied, and all patients had follow-up at 24 hours, when repeat pain scores and analgesic use were recorded. The groups were compared by using the Wilcoxon's rank sum test, Student's t test, and analysis of covariance as required. There was no significant difference in the mean changes in pain scores between the patched and nonpatched groups. Analgesic use was also similar. We conclude that routine eye patching does not favorably affect the pain associated with the treatment of simple corneal abrasion.
Administration, Topical↗
Is it diabetes mellitus or Munchausen's syndrome?
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Adult↗
Assessing children with traumatic brain injury during rehabilitation: promoting school and community reentry.
Children with traumatic brain injuries (TBI) require a comprehensive, multidisciplinary evaluation during rehabilitation to promote recovery and to facilitate a smooth transition to home and school. This article summarizes the common consequences of TBI and reviews a process-oriented approach to assessing children with moderate to severe TBI during rehabilitation. An emphasis is placed on early and regular communication among rehabilitation specialists, family members, and educators. Such collaboration permits clear identification of functional abilities and increases the child's potential for a positive long-term outcome.
Achievement↗
The Sry-related HMG box-containing gene Sox6 is expressed in the adult testis and developing nervous system of the mouse.
We have cloned and sequenced a full-length cDNA for the HMG box-containing, SRY-related gene Sox6 from mouse. The deduced protein sequence of Sox6 has considerable homology with that of the previously determined Sox5 sequence. It seems likely that these genes have diverged more recently than other members of the SOX gene family, although the two genes map to different chromosomes in the mouse. In common with Sox5, Sox6 is highly expressed in the adult mouse testis and the HMG domains of both proteins bind to the sequence 5'-AACAAT-3'. This suggests that the two genes may have overlapping functions in the regulation of gene expression during spermatogenesis in the adult mouse. However, Sox6 may have an additional role in the mouse embryo, where it is specifically expressed in the developing nervous system.
Amino Acid Sequence↗
An ATF/CREB-binding site is essential for cell-specific and inducible transcription of the murine MIP-1 beta cytokine gene.
The murine macrophage inflammatory protein 1 beta mRNA (MIP-1 beta) is rapidly and transiently induced in macrophages by lipopolysaccharide (LPS), serum or cycloheximide. Functional studies of the MIP-1 beta proximal promoter indicate that it is cell-specific, and serum- and LPS-responsive in macrophages. A 76-bp proximal promoter sequence (-51 to -127 bp) confers cell-specific and LPS-inducible activity when placed upstream from a heterologous promoter in both orientations. One essential cis-regulatory element within the enhancer-like sequence is an activating transcription factor/cAMP response element (CRE)-binding protein (ATF/CREB)-binding site, although the promoter is not cAMP responsive. Electrophoretic mobility shift assays and mutational analyses suggest that the promoter site is bound by nuclear protein complexes containing cAMP-independent members of the ATF/CREB family of proteins and c-Jun, and are functionally distinct from the AP1-related TPA-response element (TRE) binding activity.
Activating Transcription Factors↗
Comparison of transthecal digital block and traditional digital block for anesthesia of the finger.
STUDY OBJECTIVE: To compare the newly described transthecal (TT) and traditional (TD) methods of digital block anesthesia with regard to length of time to achieve anesthesia and pain during infiltration. DESIGN: Prospective, randomized, controlled, blinded study. PARTICIPANTS: Healthy adult paid volunteers. INTERVENTIONS: Each subject received a TT block on one hand and a TD block on the opposite hand. All blocks were performed by the same investigator and were rated by an evaluator who was blinded to the technique that was used. Time to loss of pin-prick sensation was measured, and the pain of the procedure was recorded by the subject on a 10-cm visual-analog scale. RESULTS: A total of 162 blocks (81 TT and 81 TD) were performed in 31 different subjects. All blocks were successful. Mean time to anesthesia for TT block was 188 seconds compared with 152 seconds for the TD block (P < .01). Mean analog pain score was slightly higher for TT block than for TD block (1.7 versus 1.4, P = .02). CONCLUSION: TT block is clinically equal to the TD method in terms of time to anesthesia and visual-analog pain score.
Adolescent↗
The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos.
Mutations in the human SRY-related gene, SOX9, located on chromosome 17, have recently been associated with the sex reversal and skeletal dysmorphology syndrome, campomelic dysplasia. In order to clarify the role of this gene in skeletal development, we have studied the expression of mouse Sox9 during embryogenesis. Sox9 is expressed predominantly in mesenchymal condensations throughout the embryo before and during the deposition of cartilage, consistent with a primary role in skeletal formation. Interspecific backcross mapping has localized mouse Sox9 to distal chromosome 11. The expression pattern and chromosomal location of Sox9 suggest that it may be the gene defective in the mouse skeletal mutant Tail-short, a potential animal model for campomelic dysplasia.
Amino Acid Sequence↗
Emergence of multidrug resistance in Campylobacter jejuni isolates from three patients infected with human immunodeficiency virus.
Single-drug resistance to tetracycline, doxycycline, erythromycin, or fluoroquinolones in Campylobacter isolates recovered from humans has been documented worldwide. Multidrug resistance to these antibiotics is rare in Campylobacter jejuni. We report the sequential development of multidrug resistance in C. jejuni isolates from three patients who were infected with human immunodeficiency virus. Multiple isolates recovered from stool specimens from these patients were ribotyped, and antibiotic susceptibility profiles were determined. The results indicated that each patient was infected with a single strain of C. jejuni that had progressively acquired resistance to the antibiotics used during treatment. The emergence of resistant isolates appeared to correlate with clinical relapse. In these patients, campylobacter enteritis was prolonged, severe, and relapsing, and antimicrobial therapy was required. Once these first-line antibiotics become ineffective, few other antibiotics are available for treating patients with campylobacter enteritis. Acquisition of antibiotic resistance in C. jejuni is therefore of concern in these cases.
AIDS-Related Opportunistic Infections↗
Formation of the ferritin iron mineral occurs in plastids.
Ferritin in plants is a nuclear-encoded, multisubunit protein found in plastids; an N-terminal transit peptide targets the protein to the plastid, but the site for formation of the ferritin Fe mineral is unknown. In biology, ferritin is required to concentrate Fe to levels needed by cells (approximately 10(-7) M), far above the solubility of the free ion (10(-18) M); the protein directs the reversible phase transition of the hydrated metal ion in solution to hydrated Fe-oxo mineral. Low phosphate characterizes the solid-phase Fe mineral in the center of ferritin of the cytosolic animal ferritin, but high phosphate is the hallmark of Fe mineral in prokaryotic ferritin and plant (pea [Pisum sativum L.] seed) ferritin. Earlier studies using x-ray absorption spectroscopy showed that high concentrations of phosphate present during ferritin mineralization in vivo altered the local structure of Fe in the ferritin mineral so that it mimicked the prokaryotic type, whether the protein was from animals or bacteria. The use of x-ray absorption spectroscopy to analyze the Fe environment in pea-seed ferritin now shows that the natural ferritin mineral in plants has an Fe-P interaction at 3.26A, similar to that of bacterial ferritin; phosphate also prevented formation of the longer Fe-Fe interactions at 3.5A found in animal ferritins or in pea-seed ferritin reconstituted without phosphate. Such results indicate that ferritin mineralization occurs in the plastid, where the phosphate content is higher; a corollary is the existence of a plastid Fe uptake system to allow the concentration of Fe in the ferritin mineral.
Biological Transport↗
In vitro growth of the microsporidian Septata intestinalis from an AIDS patient with disseminated illness.
A new species of microsporidian, Septata intestinalis, was recently recognized as an opportunistic pathogen of AIDS patients. In this study, it was cultured from the nasopharyngeal aspirate of a human immunodeficiency virus type 1-infected patient with disseminated microsporidiosis. In human embryonic lung cells exposed to S. intestinalis, a cytopathic effect appeared within 28 days as foci of rounded up cells. Thin-section electron microscopy showed a variety of developmental stages of the microsporidium within parasitophorous vacuoles. In monocyte-derived macrophages, evidence of infection and development of the parasite was demonstrated by light and electron microscopy. In both infected human embryonic lung cells and monocyte-derived macrophages, a network of septa separated individual spores. Partial sequencing of the RNA small-subunit gene (16S rDNA gene) confirmed the identity of this parasite as S. intestinalis. This is the first report of the isolation of S. intestinalis in vitro and provides evidence that the parasite can be disseminated by macrophages.
AIDS-Related Opportunistic Infections↗