Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
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PMID:[The mentally retarded dental patients. Who are they?]. 183 92

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

Previous studies have shown that children with learning disabilities have more morphological variants or anomalies than normal children, suggesting that the morphological and central nervous system effects may be the result of the same prenatal factors. The morphological variants were assumed to have arisen in the first 3 months of prenatal development, which may not be so. We have partitioned variants into those that probably arise early in fetal development ("early" variants) and those that could arise later and could be due to altered growth ("late" variants). There was an increase in both "early" and "late" variants but only that the "late" variants was statistically significant. Although the method of measuring one "early" variant (dermal patterns) was sensitive enough to detect mild disturbances in children with isolated congenital heart disease, such a disturbance was not found in our group of learning-disabled patients. Our findings suggest that the developmental disturbances resulting in morphological variants may act later in prenatal development than was previously believed. This information may be helpful in searching for clues to the etiology of this heterogeneous group of disabilities.
J Autism Dev Disord 1982 Dec
PMID:Increased morphological variants in children with learning disabilities. 716 Dec 38

Outpatient transesophageal echocardiography (TEE) was performed in 10 children and adolescents (aged 3 to 19.5 years, mean 13.5 years; weight 12 to 91 kg, mean 49 kg), including two with Down's syndrome and one with autism, for diagnostic evaluation of issues unresolved by transthoracic echo examination (TTE). Issues for TEE: evaluation for atrial septal defect (two patients); anatomy of left ventricular outflow tract obstruction (one patient); aortic valve anatomy before valvuloplasty for insufficiency (one patient); evaluation for cause of cyanosis after Fontan operation (one patient); determination of source of high-velocity intracardiac turbulence after atrioventricular septal defect repair (one patient); rule out cardiac embolic source in patient with stroke (one patient); evaluate prosthetic valve function and rule out thrombus (one patient); determination of anatomic relationship of mitral valve to a ventricular septal defect before surgery for complex cyanotic heart disease (one patient); and evaluation for aortic dissection in Marfan's syndrome (one patient). Intravenous propofol anesthesia administered without endotracheal intubation by an anesthesiologist allowed successful outpatient TEE in nine patients; midazolam-conscious sedation was used in one. Outpatient TEE resolved diagnostic issues in all patients without complication, thereby avoiding cardiac catheterization in six patients and supplementing catheterization for preoperative planning in four patients. TEE can be performed safely and effectively with propofol anesthesia in the outpatient setting in carefully selected children and adolescents to provide vital diagnostic information. However, given the invasive nature of the procedure and the use of anesthesia, outpatient pediatric TEE should be used judiciously.
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PMID:Outpatient transesophageal echocardiography with intravenous propofol anesthesia in children and adolescents. 848 Dec 50

Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present Timothy syndrome, a novel disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. In every case, Timothy syndrome results from the identical, de novo Ca(V)1.2 missense mutation G406R. Ca(V)1.2 is expressed in all affected tissues. Functional expression reveals that G406R produces maintained inward Ca(2+) currents by causing nearly complete loss of voltage-dependent channel inactivation. This likely induces intracellular Ca(2+) overload in multiple cell types. In the heart, prolonged Ca(2+) current delays cardiomyocyte repolarization and increases risk of arrhythmia, the ultimate cause of death in this disorder. These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2+) signaling in autism.
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PMID:Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 1545 78

Autism is a neurodevelopmental disorder that according to the Centers for Disease Control and Prevention (CDC) affects 1 in 150 children in the United States. Autism is characterized by impairments in social relatedness and communication, repetitive behaviors, abnormal movements, and sensory dysfunction. Recently emerging evidence suggests that mercury, especially from childhood vaccines, appears to be a factor in the development of the autistic disorders, and that autistic children have higher than normal body-burdens of mercury. In considering mercury toxicity, it has previously been shown that testosterone significantly potentates mercury toxicity, whereas estrogen is protective. Examination of autistic children has shown that the severity of autistic disorders correlates with the amount of testosterone present in the amniotic fluid, and an examination of a case-series of autistic children has shown that some have plasma testosterone levels that were significantly elevated in comparison neurotypical control children. A review of some of the current biomedical therapies for autistics, such as glutathione and cysteine, chelation, secretin, and growth hormone, suggests that they may in fact lower testosterone levels. We put forward the medical hypothesis that autistic disorders, in fact, represents a form of testosterone mercury toxicity, and based upon this observation, one can design novel treatments for autistics directed towards higher testosterone levels in autistic children. We suggest a series of experiments that need to be conducted in order to evaluate the exact mechanisms for mercury-testosterone toxicity, and various types of clinical manipulations that may be employed to control testosterone levels. It is hoped by devising therapies that address the steroid hormone pathways, in addition to the current treatments that successful lower heavy metal body-burdens of mercury, will work synergistically to improve clinical outcomes. In light of the fact that there are a number of other diseases that may have a chronic mercury toxicity component, such as Alzheimer's disease, heart disease, obesity, ALS, asthma, and other various forms of autoimmune disorders, it is imperative that further research should be conducted to understand mercury-testosterone toxicity.
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PMID:The potential importance of steroids in the treatment of autistic spectrum disorders and other disorders involving mercury toxicity. 1578 Apr 90

Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a recurrent, de novo cardiac L-type calcium channel (CaV1.2) mutation, G406R. G406 is located in alternatively spliced exon 8A, encoding transmembrane segment S6 of domain I. Here, we describe two individuals with a severe variant of TS (TS2). Neither child had syndactyly. Both individuals had extreme prolongation of the QT interval on electrocardiogram, with a QT interval corrected for heart rate ranging from 620 to 730 ms, causing multiple arrhythmias and sudden death. One individual had severe mental retardation and nemaline rod skeletal myopathy. We identified de novo missense mutations in exon 8 of CaV1.2 in both individuals. One was an analogous mutation to that found in exon 8A in classic TS, G406R. The other mutation was G402S. Exon 8 encodes the same region as exon 8A, and the two are mutually exclusive. The spliced form of CaV1.2 containing exon 8 is highly expressed in heart and brain, accounting for approximately 80% of CaV1.2 mRNAs. G406R and G402S cause reduced channel inactivation, resulting in maintained depolarizing L-type calcium currents. Computer modeling showed prolongation of cardiomyocyte action potentials and delayed afterdepolarizations, factors that increase risk of arrhythmia. These data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS.
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PMID:Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 1586 12

The recent discovery--from a meta-analysis of 18 randomized controlled trials--that supplemental cholecalciferol (vitamin D) significantly reduces all-cause mortality emphasizes the medical, ethical, and legal implications of promptly diagnosing and adequately treating vitamin D deficiency. Not only are such deficiencies common, and probably the rule, vitamin D deficiency is implicated in most of the diseases of civilization. Vitamin D's final metabolic product is a potent, pleiotropic, repair and maintenance, seco-steroid hormone that targets more than 200 human genes in a wide variety of tissues, meaning it has as many mechanisms of action as genes it targets. One of the most important genes vitamin D up-regulates is for cathelicidin, a naturally occurring broad-spectrum antibiotic. Natural vitamin D levels, those found in humans living in a sun-rich environment, are between 40-70 ng per ml, levels obtained by few modern humans. Assessing serum 25-hydroxy-vitamin D (25(OH)D) is the only way to make the diagnosis and to assure treatment is adequate and safe. Three treatment modalities exist for vitamin D deficiency: sunlight, artificial ultraviolet B (UVB) radiation, and vitamin D3 supplementation. Treatment of vitamin D deficiency in otherwise healthy patients with 2,000-7,000 IU vitamin D per day should be sufficient to maintain year-round 25(OH)D levels between 40-70 ng per mL. In those with serious illnesses associated with vitamin D deficiency, such as cancer, heart disease, multiple sclerosis, diabetes, autism, and a host of other illnesses, doses should be sufficient to maintain year-round 25(OH)D levels between 55 -70 ng per mL. Vitamin D-deficient patients with serious illness should not only be supplemented more aggressively than the well, they should have more frequent monitoring of serum 25(OH)D and serum calcium. Vitamin D should always be adjuvant treatment in patients with serious illnesses and never replace standard treatment. Theoretically, pharmacological doses of vitamin D (2,000 IU per kg per day for three days) may produce enough of the naturally occurring antibiotic cathelicidin to cure common viral respiratory infections, such as influenza and the common cold, but such a theory awaits further science.
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PMID:Use of vitamin D in clinical practice. 1837 99

For decades, Drosophila melanogaster has been used as a model organism to study human diseases, ranging from heart disease to cancer to neurological disorders [9]. For studying neurodegenerative diseases, Drosophila has been instrumental in understanding disease mechanisms and pathways as well as being an efficient tool in drug discovery studies. For some better-understood disorders, such as Fragile X (a mental retardation syndrome), clinical trials are being run, based in part on translational work in flies and rodents. However, Drosophila is currently less used to study psychiatric disorders such as autism, schizophrenia and attention deficit and hyperactivity disorder (ADHD), despite numerous discoveries of disease susceptibility genes that could be explored by reverse genetics or miss-expression studies. This deficit might be explained by (1) a lack of reliable tests to study more complex disease (endo)phenotypes in flies, (2) difficulties in translating disease symptoms into animal models and (3) the polygenetic nature of these diseases. In this review we discuss strategies to use D. melanogaster to study complex psychiatric disorders such as schizophrenia, autism and ADHD. Two common features of these diseases may be defective sleep and attention mechanisms, hence calling for better methods for quantifying and screening arousal thresholds in flies.
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PMID:Drosophila strategies to study psychiatric disorders. 2197 45

Genomic copy number variation underlies genetic disorders such as autism, schizophrenia, and congenital heart disease. Copy number variations are commonly detected by array based comparative genomic hybridization of sample to reference DNAs, but probe and operational variables combine to create correlated system noise that degrades detection of genetic events. To correct for this we have explored hybridizations in which no genetic signal is expected, namely "self-self" hybridizations (SSH) comparing DNAs from the same genome. We show that SSH trap a variety of correlated system noise present also in sample-reference (test) data. Through singular value decomposition of SSH, we are able to determine the principal components (PCs) of this noise. The PCs themselves offer deep insights into the sources of noise, and facilitate detection of artifacts. We present evidence that linear and piecewise linear correction of test data with the PCs does not introduce detectable spurious signal, yet improves signal-to-noise metrics, reduces false positives, and facilitates copy number determination.
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PMID:Reducing system noise in copy number data using principal components of self-self hybridizations. 2220 24


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