Abstract:
:Autism is a complex neurodevelopmental disorder characterized by impairment in social interaction accompanied by a delay or lack of language, restricted interests, stereotyped behavior, and repetitive movement. Genetic predisposition to autism is evident from family and twin studies, and heritability in idiopathic autism is estimated at over 90%. Frequency of the disorder is approximately 1:2000 with a male to female ratio of 4:1. Affected individuals look normal at birth, and the symptoms manifest at the first 2-3 years of life. The spectrum of clinical symptoms and the severity of the disorder are variable even among siblings. Family studies and several genome-wide linkage analyses support the hypothesis of complex inheritance with involvement of as many as 10-100 genes of moderate effect. Identification of genes responsible for the phenotype would help to understand the molecular mechanisms of the disorder. Several genes have been proposed to play a role in susceptibility to autism, and this paper will overview those genes and their potential role in the disorder.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Bespalova IN,Buxbaum JDdoi
10.1080/07853890310005966subject
Has Abstractpub_date
2003-01-01 00:00:00pages
274-81issue
4eissn
0785-3890issn
1365-2060journal_volume
35pub_type
杂志文章,评审abstract::Vaccines are considered to be one of the greatest public health achievements of the last century. Depending on the biology of the infection, the disease to be prevented, and the targeted population, a vaccine may require the induction of different adaptive immune mechanisms to be effective. Understanding the basic con...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2017.1407035
更新日期:2018-03-01 00:00:00
abstract::Despite striking extensions of lifespan, leading causes of death in most countries now constitute chronic, degenerative diseases which outpace the capacity of health systems. Cardiovascular disease is the most common cause of death in both developed and undeveloped countries. In America, nearly half of the adult popul...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2016.1271957
更新日期:2017-05-01 00:00:00
abstract::Depression, among other mood disorders, represents one of the most common health problems worldwide, with steadily increasing incidence and major socio-economic consequences. However, since the knowledge about the underlying pathophysiological principles is still very scanty, depression and other mood disorders are cu...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853891003769957
更新日期:2010-05-06 00:00:00
abstract:BACKGROUND:Chlamydia pneumoniae infection has been associated with atherosclerosis by sero-epidemiological, histopathological and interventional studies, and animal experiments. We hypothesized that if chlamydial infection is causative of atherosclerosis, the occurrence of antibodies against C. pneumoniae should be ass...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/078538902320322547
更新日期:2002-01-01 00:00:00
abstract::Bone fractures affecting elderly people are a true public health burden, because they represent one of the most important causes of long-standing pain, functional impairment, disability, and death among this population. Compromised bone strength (osteoporosis) and falling, alone, or more frequently in combination, are...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890510007197
更新日期:2005-01-01 00:00:00
abstract::Dietary salt intake is the most important factor contributing to hypertension, but the salt susceptibility of blood pressure (BP) is different in individual subjects. Although the pathogenesis of salt-sensitive hypertension is heterogeneous, it is mainly attributable to an impaired renal capacity to excrete sodium (Na...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2012.671538
更新日期:2012-06-01 00:00:00
abstract::The human airways are protected from invading micro-organisms by the highly efficient innate immune system. Antimicrobial peptides that are produced by inflammatory cells and airway epithelial cells are key elements in this innate immune system. A major subgroup of the antimicrobial peptides is the family of defensins...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890252953482
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:Finnish type of hereditary gelsolin amyloidosis (FGA) is one of the most common diseases of Finnish disease heritage. Existing FGA knowledge is based only on smaller patient series, so our aim was to elucidate the natural course of the disease in a comprehensive sample of patients and to build up a national ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1075063
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Finnish type of hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant disorder. Until recently, there has only been little knowledge of fatal complications of the disease and its possible impact on the patients' life span. METHODS:We identified 272 deceased patients based on patient in...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2016.1177197
更新日期:2016-08-01 00:00:00
abstract::Steroids diffuse through polysiloxone at a constant rate, and steroids placed in the vagina rapidly pass through the vaginal epithelium into the circulation. Combining these principles led to the development of contraceptive vaginal rings (CVR) consisting of various progestins, with and without oestrogen, placed in fl...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899309164167
更新日期:1993-04-01 00:00:00
abstract::MicroRNAs are small non-coding RNAs that bind to multiple target mRNAs to control gene expression post-transcriptionally by inhibiting translation. In mammalian cells, microRNAs play important roles in a diverse array of cellular processes (e.g. cell proliferation and differentiation). However, alterations in their le...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2014.958196
更新日期:2014-12-01 00:00:00
abstract::Mitochondria provide cells with most of the energy in the form of adenosine triphosphate (ATP). Mitochondria are complex organelles encoded both by nuclear and mtDNA. Only a few mitochondrial components are encoded by mtDNA, most of the mt-proteins are nuclear DNA encoded. Remarkably, the majority of the known mutatio...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890510007188
更新日期:2005-01-01 00:00:00
abstract::The thoracolumbar junctional region (T10-L1) of the spine is a transitional zone, where more than half of the thoracic and lumbar fractures occur. In this presentation the origin of the pathoanatomical changes in the thoracolumbar junctional region of the spine is discussed in view of the previous studies. These studi...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149222
更新日期:1989-10-01 00:00:00
abstract::Non-alcoholic fatty liver disease or NAFLD is a chronic liver condition characterized by hepatic steatosis and associated with insulin resistance and type 2 diabetes mellitus (T2DM). In many patients fat accumulation leads to steatohepatitis (NASH) with chronic necrosis, inflammation, and fibrosis, and eventually to t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890802552437
更新日期:2009-01-01 00:00:00
abstract::One of the major discoveries in modern genetics is the phenomenon of genomic, or parental, imprinting. The parent-of-origin effects seen after transmission of an imprinted gene from parents to their children do not follow the genetic rules postulated by Gregor Mendel. This has obvious consequences for genetic counsell...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899909019258
更新日期:1999-02-01 00:00:00
abstract::Abdominal obesity in man is an integrated part of the Metabolic Syndrome, and is associated with a complex neuroendocrine disturbance. Its consequences for the metabolism of the periphery seems to be insulin resistance caused by a combination of a relative hypercortisolaemia and a relative deficiency of sex steroid ho...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899209166997
更新日期:1992-12-01 00:00:00
abstract::The aetiology of insulin-dependent diabetes (IDDM) involves genetic predisposition, a major component of which has been mapped in the HLA complex, near to or identical with genes encoding class II molecules. In Caucasian populations IDDM is strongly associated with the serologically defined HLA-DR3 and DR4 antigens, w...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148086
更新日期:1991-10-01 00:00:00
abstract::Nitric oxide (NO), derived from the vascular endothelium and other cells of the cardiovascular system, has important roles in physiological regulation of blood flow and may have pathophysiological functions in cardiovascular disease. The mechanisms involved in NO-induced vasodilatation and cytotoxicity are briefly rev...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509002593
更新日期:1995-06-01 00:00:00
abstract::The effect of different clinical conditions on urinary dolichols was studied in 219 hospital patients and in 24 pregnant women. Significantly increased urinary dolichol levels were found in patients with severe bacterial infections (mean +/- SEM, 37.5 +/- 8.0 micrograms/mmol creatinine, P less than 0.001), in patients...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149176
更新日期:1989-02-01 00:00:00
abstract::Despite intensive research in spondyloarthritis pathogenesis, some important questions still remain unanswered, particularly concerning enthesis new bone formation. Several evidences suggest that it prevalently occurs by endochondral ossification, however it remains to identify factors that can induce and influence it...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2016.1243802
更新日期:2017-05-01 00:00:00
abstract::Recent results from controlled trials of adjuvant tamoxifen and oophorectomy in early breast cancer are reviewed. The results of the statistical overview performed by the Early Breast Cancer Trialists Collaborative Group are summarised, and some important questions left open by this overview are discussed. These inclu...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.3109/07853899209148333
更新日期:1992-04-01 00:00:00
abstract::This is a brief overview of the cytokine network within juvenile chronic arthritis, introducing the concept of the production of T-helper 1 (TH-1) or TH2-cell differentiation as a result of cytokine production, as well as the concept of the balance between pro- and anti-inflammatory cytokines. The balance of TH1 and T...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899709113701
更新日期:1997-04-01 00:00:00
abstract::The effect of ovarian carcinoma on the circulating concentration of the cross-linked carboxyterminal telopeptide of type I collagen (ICTP) was studied in 17 patients before and during treatment. ICTP is a complex peptide released from type I collagen, which is the main organic component of bone matrix but also induced...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899509031937
更新日期:1995-02-01 00:00:00
abstract::Sudden arrhythmic death is the most common mode of death in Western countries. An increased understanding of the pathophysiology and trigger mechanisms of life-threatening ventricular tachyarrhythmias in patients with structural heart disease can provide a logical basis for improved therapeutic strategies in the preve...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899708999355
更新日期:1997-08-01 00:00:00
abstract::Mixed connective tissue disease (MCTD) was first reported 25 years ago. This report provides an assessment of the course of juvenile (J) MCTD in 224 patients available in the literature until 1996, including our own 33 patients. Most patients improved and remissions were observed in 3-5% (up to 27%). Among the long-te...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899708999362
更新日期:1997-10-01 00:00:00
abstract::Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. It is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. While hypertrophy is a common cardiac response to injury, disarray is the pathologi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:1998-08-01 00:00:00
abstract::Adding to the difficulty of interpreting the human genome sequence and annotating protein sequence databases is the observation that a single protein can 'moonlight' or perform multiple, apparently unrelated, functions. This review summarizes examples of moonlighting proteins in cellular activities and biochemical pat...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310004101
更新日期:2003-01-01 00:00:00
abstract:AIMS:This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile site...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890903325360
更新日期:2010-01-01 00:00:00
abstract:AIM:To evaluate the effects of canrenone compared to placebo on blood pressure control, some non-conventional biomarkers in cardiovascular stratification, and on metalloproteinases in patients affected by metabolic syndrome. METHODS:A total of 156 Caucasian patients were treated with placebo or canrenone, 50 mg once a...
journal_title:Annals of medicine
pub_type: 杂志文章,随机对照试验
doi:10.3109/07853890.2014.969303
更新日期:2015-02-01 00:00:00
abstract::A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described. Among 17 studied family members this double enzymatic deficiency was found in five individuals, deficiency of porphobilinogen deaminase in four, and deficiency of copr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899409147341
更新日期:1994-04-01 00:00:00