Abstract:
:Copper is a trace element necessary for the normal function of several important enzymes but copper homeostasis is still poorly understood. In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes disease and occipital horn syndrome are X-linked recessive disorders, demonstrating the vital importance of copper, which is also highly toxic in excessive amounts. Its destructive effects are reflected in the autosomal recessive Wilson's disease. Progressive neurodegeneration and connective tissue disturbances are the main manifestations of Menkes disease. Although many patients present a severe clinical course, variable forms can be distinguished, and the occipital horn syndrome has been suggested to be a mild allelic form. The Menkes locus is mapped to Xq13.3 and the gene defective in Menkes disease has been isolated by positional cloning. The gene is predicted to encode an energy-dependent copper-binding protein, the first intracellular copper transporter described in eukaryotes. Isolation of the gene and subsequent characterization of the exon-intron organization now enables the establishment of DNA-based diagnostic methods. Furthermore, identification of the Menkes disease gene led to other important findings, such as isolation of its mouse homologue, confirming the allelic relationship between Menkes disease and occipital horn syndrome, and isolation of the defective genes in Wilson's disease and its rat homologue.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Tümer Z,Horn Ndoi
10.3109/07853899609092936subject
Has Abstractpub_date
1996-04-01 00:00:00pages
121-9issue
2eissn
0785-3890issn
1365-2060journal_volume
28pub_type
杂志文章,评审abstract::Obesity in males is accompanied by a significant decrease in testosterone levels. This decrease is essentially a consequence of the decrease of the sex hormone binding hormone (SHBG) binding capacity, itself probably the consequence of the increased insulin levels. In moderate obesity, free testosterone levels are nor...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899608999068
更新日期:1996-02-01 00:00:00
abstract:IMPORTANCE:There is limited information about the durability of glycaemic control when different oral glucose-lowering therapies (GLTs) are used as add-on treatments to metformin (MET) in patients with type 2 diabetes mellitus (T2DM). OBJECTIVE:To compare time to treatment failure between different classes of oral GLT...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2016.1157263
更新日期:2016-01-01 00:00:00
abstract::Although food habits arc not stable and unchanging during a person's lifetime, a base for healthy food habits can be created in early childhood. Children's food habits can be assumed to be influenced by their parents' food habits and choices. The aim of this article is to review factors influencing food choice in chil...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.1999.11904396
更新日期:1999-01-01 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::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::Several lines of evidence suggest that abnormal brain serotonin metabolism may occur in early onset, type 2 alcoholism in men. Low cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration has been found to be associated with a history of paternal alcoholism, and abnormal oral glucose tolerance tests (tendency to ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899009147915
更新日期:1990-01-01 00:00:00
abstract::Regular presence and persistence of specific serum antibodies in Helicobacter pylori infection gives an excellent tool for diagnostic work. Eradication of the infection leads to gradual disappearance of the gastritis and decrease of specific serum antibodies. The fall of IgG and IgA antibody titres can be followed wit...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899509002477
更新日期:1995-10-01 00:00:00
abstract:BACKGROUND:Adipose tissue (AT) is an important source of interleukin-1 receptor antagonist (IL-1Ra). Its expression is markedly increased in obesity. AIMS AND METHODS:To quantify the associations of IL-1Ra with body fat distribution as well as to examine the respective contributions of IL-1Ra and visceral adiposity to...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890903022801
更新日期:2009-01-01 00:00:00
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::A number of biochemical markers in maternal serum have been proposed for first trimester screening for Down's syndrome. The most promising four are pregnancy associated plasma protein A (PAPP-A), the free beta sub-unit of human chorionic gonadotrophin (hCG) (free beta glycoprotein sub-unit), unconjugated oestriol (uE3...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899409147323
更新日期:1994-02-01 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::The question why low-density lipoprotein (LDL) stranded in the subendothelium of arteries should acquire the proinflammatory properties that initiate and sustain atherogenesis has puzzled researchers for decades. The most popular concept contends that oxidative processes are crucial because oxidized LDL (ox-LDL) produ...
journal_title:Annals of medicine
pub_type: 社论
doi:10.3109/07853899809002596
更新日期:1998-12-01 00:00:00
abstract:BACKGROUND:Blood pressure (BP) is one of the most powerful determinants of cardiovascular risk in women. This risk may differ between post-menopausal women with and without vasomotor hot flushes, possibly indicating different vascular responses to hormone therapy (HT). Thus, we compared in a clinical trial the effect o...
journal_title:Annals of medicine
pub_type: 杂志文章,随机对照试验
doi:10.3109/07853891003796760
更新日期:2010-07-01 00:00:00
abstract::BACKGROUND. Non-steroidal anti-inflammatory drugs are associated with poor upper gastrointestinal (UGI) tolerability and increased ulcer risk, but patient adherence to gastroprotective co-therapy is frequently inadequate. A fixed-dose combination of enteric-coated naproxen 500 mg and immediate-release esomeprazole mag...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3109/07853890.2011.625971
更新日期:2011-12-01 00:00:00
abstract::Exposures of human populations to pesticides and industrial pollutants, and to synthetic chemicals present in foods, beverages, and plastics, have raised concern that these substances can interfere with endogenous sex hormone function. Interference with sex hormone action can, in turn, result in a variety of developme...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890108995952
更新日期:2001-09-01 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::Type 2 diabetes (T2D) and obesity are recognized as conditions of growing biomedical importance to societies worldwide. Despite this, lack of understanding concerning the processes which normally serve to maintain weight and to regulate glucose concentrations, and ignorance about the mechanisms by which these homeosta...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890701670421
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE AND METHODS:The impact of the rs9939609 FTO variant on cardiovascular events was investigated in the 19-year follow-up of subjects recruited to the OPERA study. RESULTS:A total of 212 cardiovascular disease (CVD) and 152 coronary heart disease (CHD) events or deaths occurred during follow-up. The logistic re...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1091088
更新日期:2015-01-01 00:00:00
abstract::Study of the growth and development of cartilage and bone has been difficult because the structure of the tissues makes biological experiments hard to conduct. Recent advances in molecular biology have offered new possibilities for studying these processes. Many cartilage and bone specific cDNAs have been cloned and c...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148050
更新日期:1991-08-01 00:00:00
abstract::Erythropoietin (EPO) is of special interest in the perinatal period in the mother and fetus. On the one hand, thanks to the recent development of highly sensitive radio-immunoassays and the ability to monitor endogenous EPO production, we can now study the physiological aspects of maternal and fetal erythropoiesis and...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:
更新日期:1993-06-01 00:00:00
abstract::This paper reviews current diagnostic techniques for Helicobacter pylori infection and critically questions their value under different diagnostic circumstances. As long as we do not have general treatment recommendations for H. pylori infection, endoscopy is still the basis for primary diagnosis because it assesses t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890109002063
更新日期:2001-03-01 00:00:00
abstract::Rapid prototyping (RP) is a common name for several techniques, which read in data from computer-aided design (CAD) drawings and manufacture automatically three-dimensional objects layer-by-layer according to the virtual design. The utilization of RP in tissue engineering enables the production of three-dimensional sc...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890701881788
更新日期:2008-01-01 00:00:00
abstract:AIM:Previous studies have shown that both triglyceride glucose (TyG) and haemoglobin glycation indexes (HGI) are predictors of cardiovascular risk. However, the prognostic value of TyG index and HGI in patients with type 2 diabetes mellitus (T2DM) and stable coronary artery disease (CAD) is not determined. METHODS:We ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1523549
更新日期:2018-11-01 00:00:00
abstract::Follicle-stimulating hormone (FSH) has been considered essential for normal ovarian follicular development and spermatogenesis. Although this concept remains valid, the recent reports of defects in genes encoding FSH and its receptor (FSHR) have altered the concepts, particularly with regard to the role of FSH in sper...
journal_title:Annals of medicine
pub_type: 社论
doi:10.3109/07853899708999345
更新日期:1997-08-01 00:00:00
abstract::Amounts of serum lipids were determined in 10 women suffering from end-stage primary biliary cirrhosis (PBC) in order to evaluate the concentrations of and changes in very low density (VLDL), high density (HDL) lipoprotein cholesterol and apoprotein A-I before and after liver transplantation. The concentrations of som...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899209148340
更新日期:1992-04-01 00:00:00
abstract::The risk of cardiovascular disease is markedly increased in patients with type 2 diabetes with a prevalence twice as high compared to the background population. With the recognition of multiple concomitant risk factors for both microvascular as well as cardiovascular disease in type 2 diabetic patients, treatment stra...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890410033612
更新日期:2004-01-01 00:00:00
abstract:INTRODUCTION:We studied prevalence of hypovitaminosis D, its determinants, and whether achievement of recommended dietary vitamin D intake (10 μg/d) is associated with absence of hypovitaminosis D in adults. METHODS:The study is part of the Cardiovascular Risk in Young Finns Study. We collected serum samples of 25-hyd...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1020860
更新日期:2015-05-01 00:00:00
abstract::Due to its varied and variable phenotypes, Andersen-Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/17431380410032490
更新日期:2004-01-01 00:00:00
abstract::This paper describes the responses of peripheral and central visceral nociceptive systems to acute injury and discusses these observations in relation to the concept of 'pre-emptive analgesia'. Visceral nociceptors are known to respond to injury but are also known to become sensitized to non-noxious stimuli during the...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509031965
更新日期:1995-04-01 00:00:00
abstract::Despite the monumental success of childhood prophylactic vaccination, there is no similar program designed to provide protection as we age against adult onset diseases like breast cancer. Instead, the predominant focus of current cancer vaccine strategy is to vaccinate after the tumors become established. This strateg...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2011.565065
更新日期:2011-08-01 00:00:00