Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is currently thought that aggregation of the receptor for immunoglobulin E on mast cells, basophils, and a tumor analog, rat basophilic leukemia (RBL) cells, induces an enhanced permeability of the plasma membrane to calcium, thereby initiating degranulation of the cells. Even in the absence of calcium ions, aggregation of the receptor causes depolarization of the plasma membrane (Kanner, B. I., and Metzger, H. (1983) Proc. Natl. Acad. Sci. U. S. A. 80, 5744-5748), suggesting that other ions can traverse the putative channel. Direct evidence for this now has been obtained with measurements of increased 22Na+ fluxes in the absence of calcium ions, induced by aggregation of receptors. This reaction was optimally studied in the presence of ouabain. When aggregation of the receptor was induced by reacting the cell-bound IgE with a multivalent antigen, the sodium flux was completely inhibited by univalent hapten. The sodium flux was also completely inhibited by 2 mM calcium. Aggregation-induced 45Ca2+ fluxes were observed in the presence of millimolar concentrations of external Ca2+, but not in its absence. Depolarization of the plasma membrane potential by the addition of potassium to the medium in the presence of calcium did not itself induce degranulation. In fact, aggregation of the receptors for IgE in the presence of high external potassium resulted in a greatly diminished degranulation. These data indicate that the ion channel modulated by aggregation of receptor differs from the voltage-dependent type of calcium channels. We suggest that in the absence of calcium this channel is rather unspecific, but that calcium can modify it to become calcium selective.
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PMID:Initial characterization of the calcium channel activated by the cross-linking of the receptors for immunoglobulin E. 608 86

Since the beginning of cytogenetics, there has been a constant improvement of chromosomal culture and banding techniques. In 1976, Yunis described a high chromosomal resolution technique (HRC), that permits the detection of subtle chromosomal abnormalities. The present work, reports the results obtained when HRC was applied to the study of chromosomal abnormalities in patients with high risk of such. The study comprised 434 specimens of venous blood and 182 bone marrow aspirates. The samples were classified according to the presuntive diagnoses. The highest frequency of chromosomal abnormalities, was found in blood samples from patients with physical deformities with or without mental retardation (22.22%), followed by mental retardation autism and/or fragile X chromosome (13.66%), and in couples with reproductive disorders (5.8%). In bone marrow, the most frequent abnormalities corresponded to patients with chronic myeloid leukemia (78.43%), acute lymphocytic leukemia (62.10%), acute myeloide leukemia (61.9%), myelodisplastic syndromes (43.7%) and chronic lymphocytic leukemia (14.2%). The present results stress the need to apply the HRC technique when the probability of minute chromosomal abnormalities is high.
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PMID:[Application of the high resolution chromosomic technic in patients in high risk of cytogenetic anomalies]. 773 21

Cerebellum may be a common site of developmental abnormalities due to its protracted course of maturation. Recent studies have implicated morphological deviations of the cerebellum as responsible for specific behavioral and cognitive manifestations of autism. We investigated neuropsychology and quantitative MRI of the cerebellum in both high functioning subjects with autism and survivors of childhood leukemia treated with radiation and intrathecal chemotherapy. The results of neuropsychological testing revealed different patterns of cognitive deficits for the two groups, while the abnormal cerebellar morphology was similar for both groups. Since it is suggested that the cerebellum contributes to motor-attentional subsystems, the present data provide support for a cerebellar role in the governance of higher cognitive functions, found to be abnormal in both groups. However, the abnormal macromorphology of the cerebellar vermis described here appears to be non-specific to autism.
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PMID:Cerebellar abnormality in autism: a nonspecific effect of early brain damage? 805 11

Child mortality has declined remarkably during the last decades. While neonatal disorders, diarrhoea, pneumonia, and malaria as well as being underweight account for most of the child deaths worldwide, children's health discussions in Europe and the USA focus on other issues such as asthma, neurodevelopmental disorders, male genital malformations, and childhood cancer. There is clear evidence of increasing rates of asthma in various countries during the last decades, although rates in some countries may now have stabilised or even decline as recent UK data indicate. Although an increase in the frequency of neurodevelopmental disorders such as autism and attention deficit disorder has frequently been discussed, the limited data in this field does not justify such a conclusion. While geographic heterogeneity regarding reproductive outcomes is apparent, global trends have not been identified. Interpretation of the available information on asthma, neurodevelopmental disorders and reproductive outcomes is hampered by inconstant diagnostic criteria over place and time and the lack of good and comprehensive population-based surveillance data, which makes it impossible to ascertain trends in actual disease frequency. Data indicate that developed countries have a gradually increasing incidence in leukaemia with a corresponding drop in the incidence of lymphoma. Increases in brain tumour frequency may be related to the development and wide application of new diagnostic capabilities, rather than a true change in the incidence of malignant disease. With a better prognosis for childhood cancer survival, secondary cancers following chemotherapy appear to be increasing. A wide range of environmental factors is thought to have an impact on children's health. These factors include nutrition (protein, vitamins, antioxidants), lifestyle and behaviour choices such as tobacco and alcohol use, parental health, socio-economic status, choice of living environment (urban versus rural, etc.), and parent-sibling behaviour. From the available data, no general conclusions on the contribution of specific chemicals can be drawn.
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PMID:Trends in childhood disease. 1685 14

High incidences of Small Cell Carcinoma & Adenocarcinoma of the lung, Astrocytoma & Glioblastoma Multiforme of the brain and Mesothelioma of the lung were found in those who had a high accumulation of Asbestos in the eyes and upper respiratory system (nose, larynx, trachea, etc.). When measured non-invasively using the Bi-Digital O-Ring Test (BDORT), brain tumors had the highest concentration of Asbestos (0.2 approximately 2.1 mg BDORT units). Relatively high levels of Asbestos (0.2 approximately 0.6 mg BDORT units) were found in: Squamous Cell Carcinoma of the lungs & esophagus, Adenocarcinoma of the larynx & breast, myelogenic leukemia, arteries of these cancers, left ventricle of failing heart, myocardial infarction, some of the narrowed arteries, varicose veins, cataracts, balding heads, hot flashes, Alzheimer's Disease and Autism. A small, round or ellipsoidal area, with diameter of 5 mm or less, was found near the center of every cancer tissue with a higher level of Asbestos (1 approximately 3 mg), As, Zn, Cr and Se, than in the rest of the tumor; this small area may be where the cancer initiated. Among areas of intractable pain with frequent recurrence and gradual worsening, about 0.2 approximately 0.5 mg BDORT units (or higher) of Asbestos were found. The author found that in the Astrocytoma and many other cancer patients, the optimal dose of DHEA produced very significant reductions of cancer cell telomere from over 1400 ng in the brain tumors (and over 900 ng in other cancers) to close to or less than 1 yg (=10(-24) g), with circulatory improvement by reduction of TXB2. Unlike the standard, widely used treatment with DHEA 25 approximately 50 mg daily, which is an overdose; we only gave one optimal dose (1.5 approximately 12.5 mg) and the beneficial effects usually lasted anywhere between 3-6 months, unless inhibiting factors were introduced. In addition, once one optimal dose of DHEA was given, the amount of Asbestos from these tumors decreased very significantly (30 approximately 99% reduction) with marked increase in urine Asbestos. One optimal dose of special Cilantro tablet reduced more Asbestos than DHEA or (+) Qi Gong Energy Stored Paper. In addition, the application of (+) Solar Energy Stored Paper often reduces 70 approximately 99% of the Asbestos, while (+) Qi Gong Energy Stored Paper reduces 50 approximately 99% of the Asbestos.
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PMID:Asbestos as a possible major cause of malignant lung tumors (including small cell carcinoma, adenocarcinoma & mesothelioma), brain tumors (i.e. astrocytoma & glioblastoma multiforme), many other malignant tumors, intractable pain including fibromyalgia, & some cardio-vascular pathology: Safe & effective methods of reducing asbestos from normal & pathological areas. 1706 32

Genetic diversity, most notably through single nucleotide polymorphisms and copy-number variation, together with specific environmental exposures, contributes to both disease susceptibility and drug response variability. It has proved difficult to isolate disease genes that confer susceptibility to complex disorders, and as a consequence, even fewer genetic variants that influence clinical drug responsiveness have been uncovered. As such, the candidate gene approach has largely failed to deliver and, although the family-based linkage approach has certain theoretical advantages in dealing with common/complex disorders, progress has been slower than was hoped. More recently, genome-wide association studies have gained increasing popularity, as they enable scientists to robustly associate specific variants with the predisposition for complex disease, such as age-related macular degeneration, Type 2 diabetes, inflammatory bowel disease, obesity, autism and leukemia. This relatively new methodology has stirred new hope for the mapping of genes that regulate drug response related to these conditions. Collectively, these studies support the notion that modern high-throughput single nucleotide polymorphism genotyping technologies, when applied to large and comprehensively phenotyped patient cohorts, will readily reveal the most clinically relevant disease-modifying and drug response genes. This review addresses both recent advances in the genotyping field and highlights from genome-wide association studies, which have conclusively uncovered variants that underlie disease susceptibility and/or variability in drug response in common disorders.
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PMID:Recent development in pharmacogenomics: from candidate genes to genome-wide association studies. 1762 46

Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions, and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs's syndrome, William's syndrome, and autism. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also, focal lesions during childhood or adolescence such as cerebellar tumor or stroke are related with neuropsychological abnormalities, which are most pronounced in visuospatial, language, and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal intelligence quotient and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions, especially in learning. There is a suggestion that the earlier the incorrect influence, the more pronounced the problems.
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PMID:Cerebellar disorders in childhood: cognitive problems. 1905 77

The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no comparison groups, and without consistent standards of measurement. Models of health, like the World Health Organization International Classification of Functioning, Disability, and Health Model can help to broaden the scope of future research. Using methods from other pediatric conditions like the patient registry (cystic fibrosis), gene bank (autism), and collaborative research (leukemia), researchers can improve the quality of future studies. Research questions related to the process of care and to specific nonsurgical conditions associated with spina bifida are reviewed in this article.
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PMID:Optimizing health care for children with spina bifida. 2041 73

Genomically imprinted genes show parentally fixed mono-allelic expression and are important for the mammalian development. Dysregulation of genomic imprinting leads to several complex pathological conditions. Though the genetic and epigenetic regulation of imprinted genes has been well studied, their protein aspects are largely ignored. Here, we systematically studied a sub-network centered on proteins encoded by imprinted genes within human interactome. Using concepts of network biology, we uncover a highly connected, transitive and central network module of imprinted gene-products and their interacting partners (IGPN). The network is enriched in development, metabolism and cell cycle related functions and its malfunctioning ascribes error intolerance to human interactome network. Further, detailed analysis revealed that its higher centrality is determined by 'date' interactions among the proteins belonging to different functional classes than the 'party' interactions within the same functional class. Interestingly, a significant proportion of this network genetically associates with disease phenotypes. Moreover, the network comprises of gene-sets that are upregulated in leukemia, psychosis, obesity/diabetes and downregulated in autism. We conclude that imprinted gene-products are part of a functionally and topologically important module of human interactome and errors in this sub-network are intolerant to, otherwise robust, human interactome. The findings might also shed light on how imprinted genes, which are rather very few, coordinate at protein level to pleiotropically regulate growth and metabolism during embryonic and post-natal development.
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PMID:Systems properties of proteins encoded by imprinted genes. 2067 38

Xenotropic murine leukemia virus-related virus (XMRV) is a retrovirus implicated in prostate cancer and chronic fatigue syndrome (CFS). Press releases have suggested that it could contribute to autism spectrum disorder (ASD). In this study we used two PCR assays and one antibody assay to screen 25 blood samples from autistic children born to mothers with CFS and from 20 mixed controls including family members of the children assayed, people with fibromyalgia and people with chronic Lyme disease. Using a real-time PCR assay, we screened an additional 48 South Carolina autism disorder samples, 96 Italian ASD samples, 61 South Carolina ASD samples and 184 healthy controls. Despite having the ability to detect low copy number XMRV DNA in a large background of cellular DNA, none of the PCR assays found any evidence of XMRV infection in blood cells from patients or controls. Further, no anti-XMRV antibodies were detected, ruling out possible low level or abortive infections in blood or in other reservoirs. These results imply that XMRV is not associated with autism.
Mol Autism 2010 Oct 14
PMID:PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism. 2094 39


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