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At least 235 records · Page 13Linked to original sources
PubMed2006

Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects.

Abnormality in neurodevelopment is one of the most robust hypotheses on the etiology of schizophrenia and has found substantial support from brain imaging and genetic studies. Neurodevelopmental processes involve several signaling pathways, including the Notch, but little is known at present regarding their possible involvement in schizophrenia. In the present study we investigated the link of non-synonymous variants of five genes of the Notch pathway (NOTCH2, NOTCH3, JAGGED2, ASCL1 and NUMBL) to schizophrenia in a group of 200 Brazilian patients and 200-paired controls. Also, we replicated the association of the NUMBL variant, our most promising finding, in an unrelated set of 684 Danish patients and controls. When the Brazilian and Danish cohorts were merged, a total of 1084 subjects, we found the allele 18 CAG of NUMBL (p=0.003, x2=8.88, OR=1.30, 95% CI 1.09-1.56) as well as the 18/18 CAG genotype (p=0.002, x2=9.46, OR=1.46, 95% CI 1.15-1.87) to be associated with schizophrenia. The consistency of this finding in two independent and unrelated populations reinforces the veracity of this association.

Adult↗
PubMed2005

T cell synapse assembly: proteins, motors and the underlying cell biology.

A tantalizing feature of the 'immunological synapse' is the segregation of transmembrane proteins into activating clusters and their underlying signalosomes. The mechanisms by which transmembrane proteins are initially recruited to and then stably segregated at the synapse remains an outstanding question in the field; and one likely to reveal key modes of signaling regulation. Ongoing real-time imaging approaches and a refocusing of efforts upon understanding the basic cell biology of T cells have all contributed to a developing model of T cell behavior; elementary TCR-derived signaling quickly feeds back into the basic cellular programs controlling cell shape, adhesiveness, motility, as well as some poorly understood aspects of membrane fluidity and segregation. It is increasingly clear that the mechanisms for control at this level are shared between T cells and other cell types and may not be revealed in differential genomic screening. To this end, imaging-based genetic screens are now coming online to aid in identifying the ubiquitous proteins that function at polarized signaling surfaces.

Cell Communication↗
PubMed2005

Advances in the pathophysiology of developmental epilepsies.

Pediatric epilepsies display unique characteristics that differ significantly from epilepsy in adults. The immature brain exhibits a decreased seizure threshold and an age-specific response to seizure-induced brain injury. Many idiopathic epilepsy syndromes and symptomatic epilepsies commonly present during childhood. This review highlights recent advances in the pathophysiology of developmental epilepsies. Cortical development involves maturational regulation of multiple cellular and molecular processes, such as neurogenesis, neuronal migration, synaptogenesis, and expression of neurotransmitter receptors and ion channels. These normal developmental changes of the immature brain also contribute to the increased risk for seizures and unique responses to seizure-induced brain injury in pediatric epilepsies. Recent technological advances, especially in genetics and imaging, have yielded exciting discoveries about the pathophysiology of specific pediatric epilepsy syndromes, such as the emergence of channelopathies as the cause of many idiopathic epilepsies and identification of malformations of cortical development as a major source of symptomatic epilepsies in children.

Adolescent↗
PubMed2005

Developmental decisions in Dictyostelium discoideum.

Dictyostelium discoideum is an excellent system in which to study developmental decisions. Synchronous development is triggered by starvation and rapidly generates a limited number of cell types. Genetic and image analyses have revealed the elegant intricacies associated with this simple development system. Key signaling pathways identified as regulating cell fate decisions are likely to be conserved with metazoa and are providing insight into differentiation decisions under circumstances where considerable cell movement takes place during development.

Animals↗
PubMed2004

Ethical issues for cancer screenings. Five countries--four types of cancer.

In recent years, medical ethics has become an undisputed part of medical studies. Many people believe that modern advances in medical technology--such as the development of dialysis machines, respirators, magnetic resonance imaging, and genetic testing and types of cancer screenings--have created the bioethical dilemmas that confront physicians in the 21st century. Debates over research and screening ethics have until recently revolved around two related questions: the voluntary, informed consent of subjects, and the appropriate relationship between risk and benefit to subjects in the experiment. Every patient has a right to full and accurate information about his or her medical condition. This legal principle arose primarily through court decisions concerning informed consent, but over time, physicians recognized that most patients prefer to learn the truth about their condition and use the information well. To screen is to search for disease in the absence of symptoms or, in other words, to attempt to find disease in someone not thought to have a disease. Examples of screening include routine mammography to detect breast cancer, routine Pap smears to detect cervical cancer and routine prostate specific antigen (PSA) testing to detect prostate cancer. Ethical principles to be followed in cancer screening programs are intended mainly to minimize unnecessary harm to the participating individuals. Numerous ethical questions can be raised about the practice of screening for disease. This paper reviews recommendation for cancer screening from five countries, examine them from an ethical perspective, and make conclusion from this analysis.

Australia↗
PubMed2001

Aggravation of brain injury after transient focal ischemia in p53-deficient mice.

The transcriptional factor p53 is a regulatory protein which contributes to the preservation of tissue integrity by promoting either DNA repair or apoptosis. To establish the pathophysiological role of this protein in ischemia, we produced 1 h transient middle cerebral artery (MCA) occlusion in normal and in p53-deficient mice and investigated the resulting tissue damage by multiparametric imaging. Possible genetic influences on the angioarchitecture of the MCA territory and blood flow were examined by intravascular latex infusion and laser-Doppler flowmetry. Wild-type (p53(+/+)), heterozygous (p53(+/-)) and homozygous (p53(-/-)) mice deficient for the p53 gene did not differ in respect to angioarchitecture or the effect of vascular occlusion on blood flow and general physiological parameters. Twenty-four hours after 1 h MCA occlusion, mice revealed a gene dose-dependent decline in the size of metabolic disturbances (ATP depletion and inhibition of protein synthesis) and histological injury (Cresyl Violet staining). DNA fragmentations detected by terminal deoxynucleotidyl transferase-mediated UTP nick end labeling (TUNEL) did not differ in the three groups and were only present in ATP-depleted tissue. Our findings suggest that after transient focal brain ischemia p53 prevents rather than aggravates brain injury, and that this effect is brought about by mechanisms that are unrelated to the pro-apoptotic properties of this gene.

Adenosine Triphosphate↗
PubMed2000

Body dysmorphic disorder.

The understanding of BDD and its treatment has expanded significantly in the past decade as controlled research has followed the leads from case reports and clinical experience. BDD is recognized as a severe, disabling disorder that is more common that had been assumed. Although BDD is still difficult to treat, success has been demonstrated for SRIs and CBT. Much remains to be discovered. To date, little is known about the causes and pathophysiology of BDD. Research that would illuminate these also would increase understanding of its relationship to other disorders, such as OCD, depression, and social phobia, and open up possibilities for prevention and new approaches to treatment. Investigations in brain imaging and genetics are underway. Research in pharmacotherapy and CBT, individually and combined, is needed to refine, extend, and optimize treatment.

Cognitive Behavioral Therapy↗
PubMed1998

Clinical manifestations of seronegative spondylarthropathies.

Seronegative spondylarthropathies include ankylosing spondylitis, Reiter's syndrome and reactive arthritis, psoriatic arthritis, arthritis associated with ulcerative colitis and Crohn's disease, plus other forms which do not meet the criteria for definite categories and are called undifferentiated. Recently two sets of classification criteria have been proposed for the entire group including undifferentiated forms: the European Spondylarthropathy Study Group and the Amor criteria. The prevalence of spondylarthropathies is directly correlated with the prevalence of the HLA-B27 antigen in the population. The highest prevalence of ankylosing spondylitis (4.5%) has been found in Canadian Haida Indians, where 50% of the population is B27 positive. Among Europeans the frequency of the B27 antigen in the general population ranges from 3 to 13% and the prevalence of ankylosing spondylitis is estimated to be 0.1-0.23%. Seronegative spondylarthropathies have common clinical and radiologic manifestations: inflammatory spinal pain, sacroiliitis, chest wall pain, peripheral arthritis, peripheral enthesitis, dactylitis, lesions of the lung apices, conjunctivitis, uveitis and aortic incompetence together with conduction disturbances. All of these may also occur in isolation.

Diagnostic Imaging↗
PubMed2000

Contemporary approach to the male infertility evaluation.

Evaluation of infertile couples has revealed that male factor infertility contributes to the problem in up to 50% of cases. Evaluation of the male infertility patient may include endocrine studies, sophisticated semen testing, and select radiographic studies. Reversible and life-threatening causes of male infertility should be identified before proceeding directly to assisted reproductive technology. For cases with irreversible causes, a proper evaluation can identify patients who may be treated with the breakthrough method of intracytoplasmic sperm injection. Many men who were previously thought to be infertile may now initiate their own biologic pregnancies. This article emphasizes the essentials of the contemporary approach to evaluating the male factor in an infertile couple.

Diagnostic Imaging↗
PubMed2002

Migration and function of a glial subtype in the vertebrate peripheral nervous system.

Glia-axon interactions are essential for the development and function of the nervous system. We combine in vivo imaging and genetics to address the mechanism by which the migration of these cells is coordinated during embryonic development. Using stable transgenic lines, we have followed the migration of one subset of glial cells and their target axons in living zebrafish embryos. These cells coalesce at an early stage and remain coupled throughout migration, with axons apparently pathfinding for glia. Mutant analysis demonstrates that axons provide instructive cues that are sufficient to control glial guidance. Furthermore, mutations in the transcription factor Sox10/cls uncouple the migration of axons and glia. Finally, genetic ablation of this glial subtype reveals an essential role in nerve fasciculation.

Animals↗
PubMed1998

Beyond images.

Explore the source record for details and available documents.

Brain↗
PubMed2004

Stroke in newborn infants.

The few days before and after birth are a time of special risk for stroke in both mother and infant, probably related to activation of coagulation mechanisms in this critical period. Arterial ischaemic stroke around the time of birth is recognised in about one in 4000 full-term infants, and may present with neurological and systemic signs in the newborn. Neonatal seizures are most commonly the clinical finding that triggers assessment. In other children, perinatal stroke is recognised only retrospectively, with emerging hemiparesis or seizures after the early months of life. Risk factors for perinatal stroke include hereditary or acquired thrombophilias and environmental factors. Perinatal stroke underlies an important share of congenital hemiplegic cerebral palsy, and probably some spastic quadriplegic cerebral palsy and seizure disorders. There is much to be learned about the natural history of perinatal stroke, and there are as yet no evidence-based strategies for prevention or treatment.

Brain Ischemia↗
PubMed2002

The role of neuroscience in the remediation of students with dyslexia.

Dyslexia is a specific learning disability that is neurobiological in origin. It is characterized by difficulties with accurate and/or fluent word recognition, spelling and decoding abilities. Research findings agree that these and other observed behavioral manifestations largely result from a deficit in the phonological component of language. However, conflicting theories on the exact nature of the phonological deficit have given rise to divergent treatment approaches. Recent advances in functional brain imaging and genetics have allowed these theories to be examined more closely. If implemented appropriately, commercial programs can be effective in identifying dyslexia. Treatment of dyslexia has been advanced through neuroscience, yet further study is needed to provide rigorous, reproducible findings that will sustain commercial approaches.

Brain↗
PubMed2026

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

BACKGROUND/OBJECTIVE: Retinal involvement in autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic autoimmune disorder caused by mutations in the AIRE gene, is increasingly recognised but remains poorly defined. Prior reports suggest a variable phenotype, ranging from mild changes to severe vision loss, often presumed untreatable. We explored the range of retinal phenotypes associated with AIRE gene deficiency in a multicentre case series of patients with APS1. METHODS: We performed a retrospective case note review of patients with molecularly confirmed APS1 from tertiary ophthalmic centres. Clinical history, multimodal retinal imaging, electrophysiology, genetic data, and treatment regimens were analysed. Histopathology was available in one case postmortem. RESULTS: Records were reviewed from five unrelated female patients. Median age was 14 years at onset of ocular involvement and 33 years at most recent follow up. Some findings from two cases have been previously reported. Three distinct pathogenic AIRE variants contributing to biallelic genotypes were observed. Retinal findings ranged from structurally and functionally normal to advanced degeneration. One patient demonstrated sharp zonal atrophy on histopathology. Inflammatory features predominated in two cases, both showing durable vision preservation with periocular or systemic immunomodulation. One patient demonstrated four years of disease stabilisation with rituximab. No consistent genotype-phenotype correlation emerged. CONCLUSION: AIRE-associated retinopathy encompasses a diverse spectrum, from clinically silent to profound degeneration. Early, targeted immunomodulation might preserve vision in selected cases. These findings advocate for ophthalmic surveillance in APS1, and support further investigation into predictive biomarkers and possible tailored immunotherapy in this vision-threatening autoimmune disorder.

Humans↗
PubMed2003

Attention deficit hyperactivity disorder in sport: a review.

Attention deficit hyperactivity disorder (ADHD) is a controversial problem in sport since participants with this disorder often require banned stimulant medication while competing. Little information is available in the literature concerning this problem or whether sports people should be allowed to participate while on stimulant therapy. The intention of this review is to undertake a brief review of recent findings in ADHD, especially as they apply to sport, and suggest some guidelines that could then be applied by sporting bodies to allow ADHD sufferers to compete. Recent scientific evidence, clinical, genetic, and imaging techniques, confirm that ADHD is characterised by dysfunction in dopamine transmission in the frontal lobes and basal ganglia structures, regions associated with attention and behaviour. The dopamine transporter (DAT) regulates dopamine by removing excess. In ADHD people, the number and density of DATs and DAT binding sites are increased by up to 70 %. The dopamine agonist methylphenidate blockades DAT, significantly increasing extra cellular dopamine, so correcting the dopamine deficiency. Methods. A search of the English literature was made using Medline from the years 1980 to 2002. [nl]The aim of this review is not to debate the use of stimulants or how often they are necessary or successful in this condition but to point out that a number of young sport people with ADHD require such medication on a regular basis. Although there are problems with their use as far as the International Olympics Committee (IOC) is concerned, it would seem most unfair to penalise sports people by having to give up their medication, even for a few days or at some arbitrary age, in order to compete.

Attention Deficit Disorder with Hyperactivity↗