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At least 703 records · Page 39Linked to original sources
PubMed2006

Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation.

Advances in medical treatment have prolonged the lives of children with Hurler syndrome or mucopolysaccharidosis I requiring increased attention to the assessment of their long-term outcomes and functional abilities. Adaptive functions are critical for understanding functional outcomes after treatment and developing focused interventions. We investigated the development of various adaptive functions in children who have had hematopoietic stem cell transplant (HSCT) for Hurler syndrome and risk factors that are associated with the development of these functions. We examined the development of 41 children who had 3 or more Vineland Adaptive Behavior Scales records assessed before and after transplant. Communication, daily living skills, socialization, and motor functions were measured. While standard scores decline over time, development of skills continue with a slower than average rate compared with peers. A cross-sectional nontransplanted comparison group showed more deficits after age 2 years than the transplanted group. In contrast to cognitive ability, age at transplant was not significantly associated with ultimate adaptive level. Baseline cognitive level before HSCT and growth of cognition after HSCT were associated with adaptive functions especially for communication and daily living skills. Socialization was predicted by cumulative medical risk factors, likely due to restricted social exposure in children with complicated transplant courses. Overall, measurement of adaptive behaviors demonstrated that HSCT allows long-term slow improvement of functional outcomes for children with Hurler syndrome. Children with Hurler syndrome with good cognitive levels before HSCT and continued growth of cognition after HSCT show good adaptive functions. Although cognitive and orthopedic problems as well as medical complications limit adaptive ability, identifying these problems early allow beneficial targeted interventions.

Activities of Daily Living↗
PubMed2005

Clinical effectiveness of contemporary adhesives: a systematic review of current clinical trials.

OBJECTIVES: The purpose of this paper was to review current literature on the clinical effectiveness of contemporary adhesives when used to restore cervical non-carious class-V lesions. Restoration retention in function of time was recorded in order to find out if adhesives with a simplified application procedure are as clinically effective as conventional three-step adhesives. DATA SOURCES: Literature published from January 1998 up to May 2004 was reviewed for university-centred clinical trials that tested the clinical effectiveness of adhesives in non-carious class-V lesions. Restoration-retention rates per adhesive reported in peer-reviewed papers as well as IADR-AADR abstracts and ConsEuro abstracts were included and depicted as a function of time in graphs for each of the five adhesive classes (three- and two-step etch-and-rinse adhesives, two- and one-step self-etch adhesives, and glass-ionomers). The guidelines for dentin and enamel adhesive materials advanced by the American Dental Association were used as a reference. Per class, the annual failure rate (%) was calculated. Kruskal-Wallis analysis and Dwass-Steel-Chritchlow-Fligner pairwise comparisons were used to determine statistical differences between the annual failure percentages of the five adhesive categories. RESULTS: Comparison of retention of class-V adhesive restorations as a measure to determine clinical bonding effectiveness of adhesives revealed that glass-ionomers most effectively and durably bond to tooth tissue. Three-step etch-and-rinse adhesives and two-step self-etch adhesives showed a clinically reliable and predictably good clinical performance. The clinical effectiveness of two-step etch-and-rinse adhesives was less favourable, while an inefficient clinical performance was noted for the one-step self-etch adhesives. SIGNIFICANCE: Although there is a tendency towards adhesives with simplified application procedures, simplification so far appears to induce loss of effectiveness. Clinical performance can be correlated with, and predicted by, appropriate types of laboratory study.

Adhesives↗
PubMed2003

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol Delta7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7-dehydrocholesterol (7-DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 +/- 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50-80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64-68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS.

Behavior↗
PubMed1998

Psychological effects of liver disease and transplantation.

UNLABELLED: Psychological adjustment in children with liver disease was investigated. Three groups of children 6-15 years old participated: ten had undergone a liver transplant (Gp1), 15 had ongoing chronic liver disease (Gp2) and 15 were healthy controls (Gp3). Children who had had a transplant appeared well adjusted and thought of themselves as healthy rather than ill, although areas of vulnerability were present, for example increased anxiety. No differences emerged in terms of coping with common or illness-related problems or understanding of the causes of illness and use of medication. Gps 1 and 2 showed higher levels of understanding of the functions of the liver but less understanding of illness prevention when compared to their healthy peers. Gp2 experienced less control over their health when compared to the other two groups. Gp1 rated themselves as more "healthy" than Gp2 but less so than Gp3. CONCLUSION: Children with chronic liver disease are able to communicate how they deal with the stresses of the condition. Though well adjusted in many ways, those who have had a transplant still show areas of psychological vulnerability which need to be addressed in clinical practice.

Adaptation, Psychological↗
PubMed2004

Effects of pyrethroids on voltage-sensitive calcium channels: a critical evaluation of strengths, weaknesses, data needs, and relationship to assessment of cumulative neurotoxicity.

The Food Quality Protection Act of 1996 requires that the U.S. Environmental Protection Agency conduct cumulative risk assessments for classes of pesticides that have a common mode or mechanism of action. For the pyrethroid insecticides, disruption of voltage-sensitive sodium channel function is generally accepted as the mechanism underlying acute neurotoxicity. However, data exist which suggest that voltage-sensitive calcium (Ca(2+)) channels (VSCC) may also be important targets of pyrethroid action. VSCC are important to neuronal function during development and for neurotransmitter release, gene expression, and electrical excitability in the nervous system. Disruption of these and other processes mediated by VSCC can result in neurotoxicity. If effects on VSCC are demonstrated to contribute to pyrethroid neurotoxicity, then such effects will have to be considered when making decisions regarding cumulative risk of exposure to this class of compounds. This document provides a critical review of the data related to the hypothesis that VSCC are important targets of pyrethroid effects. Data supporting effects of pyrethroids on VSCC have been generated by several different laboratories using different techniques and biological preparations. Thus, the many reports of effects on VSCC provide evidence that pyrethroids may interact with VSCC. However, evidence to support a role of VSCC in pyrethroid neurotoxicity is based entirely on in vitro observations, and numerous limitations exist in these data, including: (1) lack of defined concentration-response relationships, with some effects observed only at relatively high concentrations, (2) the use of indirect measures of VSCC function, (3) data from nonmammalian species, (4) data from studies that have not been peer-reviewed, (5) the need for replication of some effects, and (6) inconsistent or contradictory results from different laboratories/preparations. Thus, at the present time, it is premature to conclude that effects on VSCC play an important role in the acute neurotoxicity of pyrethroid insecticides in mammals. To demonstrate that VSCC are important targets of pyrethroid neurotoxicity in mammals, in vivo studies supporting a role for pyrethroid effects on VSCC are needed. Additional support could be provided by demonstration of direct effects of pyrethroid compounds on mammalian neuronal VSCC in vitro, including demonstration that concentration-response relationships are similar, or greater, in sensitivity to effects of pyrethroids on voltage-sensitive sodium channels. If such effects were to be demonstrated, the rationale for considering VSCC as targets of pyrethroid compounds when assessing cumulative risk would be strengthened. However, at the present time, the data available neither support nor refute conclusively the hypothesis that effects on VSCC are important to the acute neurotoxicity of pyrethroids.

Animals↗
PubMed2003

Function prediction and protein networks.

In the genomics era, the interactions between proteins are at the center of attention. Genomic-context methods used to predict these interactions have been put on a quantitative basis, revealing that they are at least on an equal footing with genomics experimental data. A survey of experimentally confirmed predictions proves the applicability of these methods, and new concepts to predict protein interactions in eukaryotes have been described. Finally, the interaction networks that can be obtained by combining the predicted pair-wise interactions have enough internal structure to detect higher levels of organization, such as 'functional modules'.

Animals↗
PubMed2002

Genome and protein evolution in eukaryotes.

The past year has seen the completion of the genome sequence of the flowering plant Arabidopsis thaliana and the initial sequence reports of the human genome. The availability of completely sequenced eukaryotic genomes from disparate phylogenetic lineages has opened the door to comparative analyses and a better understanding of the evolutionary processes shaping genomes. Complex many-to-many relationships between genes from different species appear to be the norm, suggesting that transfer of detailed functional annotation will not be straightforward. In addition to expansion and contraction of gene families, new genes evolve from recombination of pre-existing domains, although some domain families do appear to have evolved recently and to be specific to restricted phylogenetic lineages. The overall picture is of a huge diversity of gene content within eukaryotic genomes, reflecting different functional demands in different species.

Animals↗
PubMed1999

Executive function of children with extremely low birthweight: a case control study.

This study examines the executive function (EF) skills of extremely-low-birthweight (ELBW) children at school compared with their peers. Thirty children with ELBW and 50 control children (both with a mean age of 62+/-4 months) were administered tests of EF including the Tower of Hanoi task, Finger Sequencing task, and Tapping Test. Children with ELBW, including those who scored more than 1 SD below the mean on the Peabody Picture Vocabulary Test-Revised, scored significantly lower than their peers on all executive tasks. There was limited correlation between EF and previous general quotient index scores obtained at routine assessment using the McCarthy Scales of General Ability at 4 years of age for the children with ELBW. Results suggest that children with ELBW are at risk for deficits in 'executive' behaviours including planning, sequencing, and inhibition which may have implications for later learning.

Case-Control Studies↗
PubMed2002

Suspensions and detentions in an urban, low-income school: punishment or reward?

Disciplinary records for 3rd through 8th grade students (n = 314) in an inner-city, public school were examined for one school year to assess students' variation in response to discipline. Rates of disciplinary referrals were compared for students who received no detentions or suspensions throughout the year ("never group" n = 117), students who received one or more detention or suspension in the fall but not in the spring ("fall group" n = 62), and students who received one or more detention or suspension in the fall and one or more detention or suspension in the spring ("fall + spring group" n = 75). Results indicated that during the fall, the "fall group" had nearly equivalent rates of referrals to the "fall + spring group"; however, the "fall group" exhibited significantly lower rates of referrals during winter and spring that were nearly equivalent to the "never group," as would be expected for a punishment procedure. In contrast, the "fall + spring group" evidenced increases in referrals across the year, suggesting the possibility that detentions and suspensions were functioning as rewards for this group. The "fall + spring group" was rated by teachers and peers at mid-year as highly aggressive, lacking social skills, and high on hyperactivity, whereas the "fall group" and the "never group" were statistically equivalent on teacher and peer ratings. Implications for mental health programs for urban schools are discussed, especially the need for alternatives to detention and suspension for the subset of students who account for the majority of school discipline.

Behavior Therapy↗
PubMed2003

Bioinformatics in the post-sequence era.

In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered from traditional biology. Sequence-based methods of analyzing individual genes or proteins have been elaborated and expanded, and methods have been developed for analyzing large numbers of genes or proteins simultaneously, such as in the identification of clusters of related genes and networks of interacting proteins. With the complete genome sequences for an increasing number of organisms at hand, bioinformatics is beginning to provide both conceptual bases and practical methods for detecting systemic functional behaviors of the cell and the organism.

Computational Biology↗
PubMed2001

Functional glucocorticoid receptors in the mesonephros of the ovine fetus.

BACKGROUND: At 27 days of gestation in the ovine fetus (term = 145 to 150 days), the only kidney is the mesonephros, and allantoic fluid represents fetal urine. The hypothesis tested in this study was that functional glucocorticoid receptors (GRs) are present in this early mesonephric kidney. METHODS: Pregnant ewes, between 26 and 30 days, were infused with saline, dexamethasone (0.48 mg/hour), cortisol (5 mg/hour), or aldosterone (10 microg/hour) for 48 hours and were then killed for collection of fetuses and fetal fluids. GR mRNA was measured by real-time polymerase chain reaction in whole fetuses, and the location of gene expression was determined by hybridization histochemistry. RESULTS: Significant changes in allantoic fluid composition were produced by the exposure of the fetus to maternally infused synthetic (dexamethasone) and natural (cortisol) glucocorticoids, over a period of two days, compared with fetuses of ewes infused with vehicle (isotonic saline; N = 8) or aldosterone (N = 8). Volume of fluid was unchanged by any treatment, but both dexamethasone (N = 10) and cortisol (N = 8) caused significant (P < 0.05) decreases in sodium and chloride concentrations and increases in concentrations of potassium, urea, glucose, and fructose. GR mRNA was detected in equivalent concentrations in the whole fetuses of saline, dexamethasone, and cortisol treatments. The GR mRNA levels were significantly decreased in the aldosterone group. By hybridization histochemistry, GR mRNA was detected in most of the tubular cells of the mesonephros. CONCLUSION: These results suggest that functional GRs are present in the early ovine mesonephros.

Allantois↗
PubMed2006

Short bowel syndrome: recent clinical outcomes with growth hormone.

There has been recent clinical enthusiasm for treating short bowel patients with either human recombinant growth hormone alone or in combination with glutamine and diet in hopes of reducing their parenteral nutrition requirements. Part of this interest has been the result of studies done in short bowel animal models showing increased bowel growth and function following such treatment. Since 1995, 5 key clinical studies have been published in peer-reviewed literature reporting the effects of growth hormone alone or in combination with glutamine and diet in patients with short bowel syndrome. Three of these controlled studies have reported negative results, and 1 controlled and 1 uncontrolled study reported positive results. This review discusses each of these articles and provides some explanation on how these studies and results may have differed.

Clinical Trials as Topic↗
PubMed2002

'What did you say'?: understanding conversational breakdowns in children with speech and language impairments.

The study examined the types of mistakes children make during conversations with a familiar partner. The current investigation differs from previous studies because it asked what it is about the language of children with specific language impairment and phonological disorder (SLI:PD) that causes mothers to ask for clarification. Videotaped interactions were coded with the Breakdown Coding System to describe breakdowns. Not surprisingly, results indicated that children with SLI:PD were more difficult to understand than peers because of phonological errors and reduced intelligibility, supporting long-held beliefs about the functional impact of phonological impairments. Less predictable, however, was the finding that when children with SLI:PD were intelligible, mothers had more difficulty understanding them because of ambiguous utterances and underspecified pronouns, or because of semantically inappropriate or inaccurate information. Implications are discussed, and breakdown descriptions are presented as a useful supplement to current assessment methods and intervention planning.

Child↗
PubMed2002

Conference report: functional magnetic resonance imaging for beginners--a review of the fMRI experience IV, 13-14 May 2002, Natcher Conference Center, National Institutes of Health, Bethesda, MD.

The fourth fMRI Experience meeting was held at the Bethesda, Maryland campus of the National Institutes of Health on May 13th and 14th, 2002. The purpose of the meeting was to provide a platform for students working with functional magnetic resonance imaging (fMRI) to pres ent their research to an international audience of peers. This year"s meeting featured special lectures from Dr. Leslie Ungerleider ("Imaging Mechanisms of Visual Attention") and Dr. Daniel Weinberger ("Genetic Variation and fMRI Response").

Animals↗
PubMed2006

A comparative study of the spontaneous social interactions of children with high-functioning autism and children with Asperger's disorder.

A comparative observational study was undertaken of the spontaneous social interactions of children with high-functioning autism and Asperger's disorder. The sample comprised 20 children with high-functioning autism, 19 children with Asperger's disorder and 17 typically developing children matched on chronological age and overall mental age. A one-zero time sampling technique was used in live coding of the children's spontaneous social and play behaviours in the schoolyard. Few differences were found between children with high-functioning autism and Asperger's disorder on the dimensions of social interaction investigated. In contrast, the social behaviour of both clinical samples often deviated markedly from that of the typically developing children. The findings confirmed that although children with high-functioning autism or Asperger's disorder are often socially isolated relative to their typically developing peers, they are capable of spontaneously engaging socially with other children. The results were supportive of the hypothesis that Asperger's disorder is on a continuum with autistic disorder.

Asperger Syndrome↗
PubMed2004

Executive functioning in school-aged children who were born very preterm or with extremely low birth weight in the 1990s.

OBJECTIVE: To determine the frequency, nature, and severity of executive dysfunction (EDF) at 8 years of age in extremely low birth weight (ELBW)/very preterm infants who were born in the 1990s, compared with normal birth weight (NBW) control subjects. METHODS: A geographically determined cohort study was conducted in Victoria, Australia. The ELBW/very preterm cohort comprised 298 consecutive survivors at 2 years of age who had gestational ages <28 completed weeks or birth weights <1000 g and were born during 1991-1992. The NBW cohort comprised 262 randomly selected children of birth weight >2499 g matched on date of birth, gender, ethnicity, and health insurance status. The participation rate was 92% (275 of 298) for the ELBW/very preterm cohort and 85% (223 of 262) for the NBW cohort. Cognitive and behavioral measures of executive functioning were administered. RESULTS: The ELBW/very preterm cohort exhibited significant EDF compared with their NBW peers in all areas assessed. The cognitive assessment revealed global impairment rather than deficits in specific executive domains. The ELBW/very preterm children also displayed more behavioral problems indicative of EDF than the NBW children. Severe impairments were exhibited in only a small minority of ELBW/very preterm children. No statistical conclusions were altered after adjustment for sociodemographic variables or when children with substantial neurosensory impairment were excluded. CONCLUSIONS: School-aged children who were born in the 1990s and were very preterm or had ELBW are at greater risk for developing EDF and require ongoing neuropsychological review throughout middle childhood.

Child↗
PubMed2000

Consistency of hand use and frequency of colds among college students.

The self reported annual frequencies of colds were assessed for two groups of 37 students each who were either consistent or inconsistent in the use of their hands. These data indicated that the inconsistent hand use group reported significantly more colds than their consistent hand use peers.

Common Cold↗
PubMed1999

Perceptual processing among high-functioning persons with autism.

Two tasks were used to assess the processing of whole versus parts of objects in a group of high-functioning children and adolescents with autism (N = 11) and a comparison group of typically developing peers (N = 11) matched for chronological age and IQ. In the first task, only the children with autism showed a global advantage, and the two groups showed similar interference between levels. In the second task, the children with autism, despite longer RTs, showed similar performance to the comparison group with regard to the effect of goodness on visual parsing. Contrary to expectations based on the central coherence and hierarchisation deficit theories, these findings indicate intact holistic processing among persons with autism. The implications of these findings are discussed in relation to apparently discrepant evidence from other studies.

Adolescent↗