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)

The ratio between the length of the 2nd and 4th digits is: (a) fixed in utero; (b) lower in men than in women; (c) negatively related to testosterone and sperm counts; and (d) positively related to oestrogen concentrations. Prenatal levels of testosterone and oestrogen have been implicated in infertility, autism, dyslexia, migraine, stammering, immune dysfunction, myocardial infarction and breast cancer. We suggest that 2D:4D ratio is predictive of these diseases and may be used in diagnosis, prognosis and in early life-style interventions which may delay the onset of disease or facilitate its early detection.
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PMID:The ratio of 2nd to 4th digit length: a new predictor of disease predisposition? 1085 2

The androgen receptor gene (AR) contains a domain which includes a variable number of CAG sequences and alleles with low numbers of CAG repeats show high transactivation activity when complexed with testosterone. The ratio of 2nd and 4th digit length (2D:4D) is negatively correlated with phenotypic effects of testosterone. Low numbers of CAG repeats and low 2D:4D are both associated with high sperm numbers and protection against breast cancer. This suggests that CAG number and 2D:4D are correlated i.e. low CAG number and low 2D:4D indicate high activation of androgen-responsive genes. Findings from AR studies predict that low 2D:4D will be associated with prostate and hepatocellular cancer, urolithiasis, ADHD, ankylosing spondylitis, spontaneous abortion, and polycystic ovaries, while high 2D:4D will be associated with motor neuron diseases and endometrial cancer. Findings from 2D:4D studies predict that short CAG length will be common in autism and Asperger's syndrome, while high numbers of CAG repeats will be found in men who are prone to early myocardial infarction.
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PMID:The ratio of 2nd to 4th digit length: a proxy for transactivation activity of the androgen receptor gene? 1220 64

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excessive androgen exposure in the gestational period and various degrees of masculinization of the external genitalia in female foetuses. Intrauterine gonadal steroids are not only essential for the development of the genital organs but also affect some other extragenital organ development. The second to fourth digit (2D/4D) ratio shows a sexually dimorphic pattern with longer fourth digit from second digit in men compared to women. A low 2D/4D ratio is associated with high sperm count, testosterone levels and reproductive success in men. A high 2D/4D ratio is associated with high oestrogen levels in women. Second and fourth digit ratio has also found to be correlated with sexual orientation, left hand preference autism and some adult onset diseases such as breast cancer and myocardial infarction. We found lower 2D/4D ratio in female patients with 21-hydroxylase deficiency compared to healthy girls (p=0.000) and equal 2D/4D ratio for female patients when compared to male controls. Male patients with 21-hydroxylase deficiency had significantly lower 2D/4D ratio than female and male controls in the right hand. Healthy boys had lower 2D/4D ratio than healthy girls. It is concluded that 2D/4D ratio established by intrauterine androgen levels influences the sexually dimorphic digit pattern.
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PMID:The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1244 Dec 4

The differentiation of gonads, fingers, and toes is influenced by HOXA and HOXD genes. Therefore variation in the development of the gonads, and their fetal products such as testosterone, may be reflected in the morphology of the fingers and toes. One trait, the relative length of the second and fourth digits (2D:4D), shows sex differences (lower values in males) which are determined early, and 2D:4D has been found to correlate with fetal growth, sperm counts, family size, autism, myocardial infarction, and breast cancer. HOX genes are highly conserved in mammals and they influence the differentiation of all the fingers and toes. We suggest that (a) 2D:4D and other ratios of finger and toe length show sex differences throughout the mammals including humans and mice, (b) finger and toe ratios correlate with sex determination, the fetal production of sex steroids, and fetal programming of disease, and (c) HOX gene influences on sex determination, the morphogenesis of the urinogenital system, fertility, haematopoiesis, and breast cancer suggests that finger and toe ratios in humans and mice may correlate with many sex dependent diseases.
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PMID:Finger and toe ratios in humans and mice: implications for the aetiology of diseases influenced by HOX genes. 1258 9

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

The question of what is leading to the apparent increase in autism is of great importance. Like the link between aspirin and heart attack, even a small effect can have major health implications. If there is any link between autism and mercury, it is absolutely crucial that the first reports of the question are not falsely stating that no link occurs. We have reanalyzed the data set originally reported by Ip et al. in 2004 and have found that the original p value was in error and that a significant relation does exist between the blood levels of mercury and diagnosis of an autism spectrum disorder. Moreover, the hair sample analysis results offer some support for the idea that persons with autism may be less efficient and more variable at eliminating mercury from the blood.
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PMID:Blood levels of mercury are related to diagnosis of autism: a reanalysis of an important data set. 1840 Oct 39

Oxidative stress (OS) has been characterized by an imbalance between the production of reactive oxygen species (ROS) and a biological system's ability to repair oxidative damage or to neutralize the reactive intermediates including peroxides and free radicals. High ROS production has been associated with significant decrease in antioxidant defense mechanisms leading to protein, lipid and DNA damage and subsequent disruption of cellular functions. In humans, OS has been reported to play a role in the pathogenesis of neurodegenerative diseases such as Alzheimer's disease, Huntington's disease, Lou Gehrig's disease, multiple sclerosis and Parkinson's disease, as well as atherosclerosis, autism, cancer, heart failure, and myocardial infarction. Although OS has been linked to the etiology and development of chronic diseases, many chemotherapeutic drugs have been shown to exert their biologic activity through induction of OS in affected cells. This review highlights the controversial role of OS in the development and progression of leukemia cancer and the therapeutic application of increased OS and antioxidant approaches to the treatment of leukemia patients.
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PMID:Dual effect of oxidative stress on leukemia cancer induction and treatment. 2551 34

Purinergic signalling, i.e., the role of nucleotides as extracellular signalling molecules, was proposed in 1972. However, this concept was not well accepted until the early 1990's when receptor subtypes for purines and pyrimidines were cloned and characterised, which includes four subtypes of the P1 (adenosine) receptor, seven subtypes of P2X ion channel receptors and 8 subtypes of the P2Y G protein-coupled receptor. Early studies were largely concerned with the physiology, pharmacology and biochemistry of purinergic signalling. More recently, the focus has been on the pathophysiology and therapeutic potential. There was early recognition of the use of P1 receptor agonists for the treatment of supraventricular tachycardia and A2A receptor antagonists are promising for the treatment of Parkinson's disease. Clopidogrel, a P2Y12 antagonist, is widely used for the treatment of thrombosis and stroke, blocking P2Y12 receptor-mediated platelet aggregation. Diquafosol, a long acting P2Y2 receptor agonist, is being used for the treatment of dry eye. P2X3 receptor antagonists have been developed that are orally bioavailable and stable in vivo and are currently in clinical trials for the treatment of chronic cough, bladder incontinence, visceral pain and hypertension. Antagonists to P2X7 receptors are being investigated for the treatment of inflammatory disorders, including neurodegenerative diseases. Other investigations are in progress for the use of purinergic agents for the treatment of osteoporosis, myocardial infarction, irritable bowel syndrome, epilepsy, atherosclerosis, depression, autism, diabetes, and cancer.
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PMID:Purinergic Signalling: Therapeutic Developments. 2899 32

Electroconvulsive therapy (ECT) is the oldest among the early biological treatments introduced in psychiatry, and the only one still in use. In this paper we attempt a brief presentation of ECT usage over the last 80 years, since it was originally introduced. It is a safe, well-tolerated, and highly effective treatment option for major psychiatric disorders, such as mood disorders and schizophrenia, especially when there is an acute exacerbation of psychotic symptoms or if catatonic symptoms are prominent. ECT has also been used successfully for the treatment of Parkinson's disease, delirium, neuroleptic malignant syndrome, autism and agitation and depression in demented patients. There are no absolute contraindications. However, it is considered a high risk procedure for patients with increased intracranial pressure, recent myocardial infarction, recent cerebral hemorrhage or stroke, vascular aneurysm, retinal detachment and pheocromocytoma. Modern genetic and neuroimaging techniques have helped clarify possible mechanisms of action of ECT, but much remains unknown. Improvement of this method through a number of technical advancements has contributed in the reduction of side effects. Thus, modified ECT is currently considered as an effective and safe form of treatment even in vulnerable populations such as the geriatric patients, the adolescents and the pregnant patients. The mortality rate is very low, comparable to that of a minor anesthetic procedure. The most common adverse events are headache, nausea, myalgias and postictal delirium while the most severe are the cardiovascular side effects. Of note, the cognitive side effects especially amnesia, although transient, has been the focus of skepticism against the treatment. Major psychiatric disorders are chronic, recurring disorders. The relapse rate after a successful course of ECT without any intervention is extremely high. Pharmacotherapy or continuation ECT reduces equally the relapse rate up to 40%. Continuation and maintenance ECT, in combination with pharmacotherapy, have been successfully used in preventing relapse and recurrence. Gradual tapering off acute ECT treatments and individualized continuation and maintenance ECT treatments based on the needs of each patient seems the optimum clinical practice. Conclusively, despite impressive new developments in pharmacotherapy and in biological non pharmacological treatments ECT remains a valuable, irreplaceable treatment option for debilitating, resistant major psychiatric disorders.
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PMID:[Electroconvulsive therapy: 80 years of use in psychiatry]. 3081 39