Hereditary tyrosinaemia type I: from basics to progress in treatment.

abstract：:After the sequencing of the human genome has been completed, non-invasive imaging studies are needed to assess the function of new genes in living organisms. The evaluation of genetically manipulated animals or new designed biomolecules will require a thorough understanding of physiology, biochemistry and pharmacology...

journal_title：Annals of medicine

authors： Haberkorn U,Altmann A

更新日期：2003-01-01 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

authors： Santala M,Risteli L,Puistola U,Risteli J,Kauppila A

更新日期：1995-02-01 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

authors： Mamza J,Mehta R,Donnelly R,Idris I

更新日期：2016-01-01 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

authors： Tapanainen JS,Aittomäki K,Huhtaniemi IT

更新日期：1997-08-01 00:00:00

abstract：:Among the approximately 7,000 cytogenetically abnormal childhood and adult B- and T-lineage acute lymphoblastic leukemias (ALL) published to date, numerous recurring chromosomal aberrations and abnormality patterns have been identified, and it has been clearly shown that the cytogenetic features often correlate closel...

journal_title：Annals of medicine

authors： Johansson B,Mertens F,Mitelman F

更新日期：2004-01-01 00:00:00

abstract：INTRODUCTION:Undetermined strokes with an embolic pattern (USEP) represent a common phenotype. We assessed their frequency and compared USEP with cardioembolic stroke with a known source and non-cardioembolic stroke etiology. METHODS:Study patients were 540 consecutive ischemic stroke patients admitted to Helsinki Uni...

journal_title：Annals of medicine

authors： Putaala J,Nieminen T,Haapaniemi E,Meretoja A,Rantanen K,Heikkinen N,Kinnunen J,Strbian D,Mustanoja S,Curtze S,Pakarinen S,Lehto M,Tatlisumak T

更新日期：2015-01-01 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

authors： Deschamps I,Beressi JP,Khalil I,Robert JJ,Hors J

更新日期：1991-10-01 00:00:00

abstract：:Radiosurgery is an increasingly popular method for treating a variety of intracranial tumours. A great deal of treatment data has been accumulated suggesting that radiosurgery may be the treatment of choice for small acoustic schwannomas. Moreover, radiosurgery promises excellent tumour control and minimal risk in the...

journal_title：Annals of medicine

authors： Friedman WA,Foote KD

更新日期：2000-02-01 00:00:00

abstract：INTRODUCTION:Ischemic stroke (IS) in a young patient is a disaster and recurrent cardiovascular events could add further impairment. Identifying patients with high risk of such events is therefore important. The prognostic relevance of ECG for this population is unknown. MATERIALS AND METHODS:A total of 690 IS patient...

journal_title：Annals of medicine

authors： Pirinen J,Putaala J,Aarnio K,Aro AL,Sinisalo J,Kaste M,Haapaniemi E,Tatlisumak T,Lehto M

更新日期：2016-11-01 00:00:00

abstract：:The Cardiovascular Risk in Young Finns Study is a collaborative effort of all university departments of paediatrics and several other institutions in Finland to study the risk factors of coronary heart disease (CHD) and their determinants in children and adolescents in different parts of the country. The main cross-se...

journal_title：Annals of medicine

authors： Akerblom HK,Viikari J,Raitakari OT,Uhari M

更新日期：1999-04-01 00:00:00

abstract：BACKGROUND:Multiple lines of evidence suggest that the circadian clock contributes to the pathogenesis of winter depression or seasonal affective disorder (SAD). We hypothesized that sequence variations in three genes, including Per2, Arntl, and Npas2, which form a functional unit at the core of the circadian clock, pr...

journal_title：Annals of medicine

authors： Partonen T,Treutlein J,Alpman A,Frank J,Johansson C,Depner M,Aron L,Rietschel M,Wellek S,Soronen P,Paunio T,Koch A,Chen P,Lathrop M,Adolfsson R,Persson ML,Kasper S,Schalling M,Peltonen L,Schumann G

更新日期：2007-01-01 00:00:00

abstract：:High-dose chemotherapy followed by transplantation of autologous hematopoietic progenitor cells has a proven track record of safety and efficacy in hematological malignancies and select solid tumors. The near-universal use of peripheral blood stem cells as source for autografts, routine growth factor support, and anti...

journal_title：Annals of medicine

authors： Hamadani M

更新日期：2014-12-01 00:00:00

abstract：:The associations between candidate gene polymorphisms and coronary heart disease (CHD) are complex as a consequence of pleiotropy, variation with age, selection due to the high lethality of the disease, and interactions with other genes and with environmental factors. Identification of the gene variants that contribut...

journal_title：Annals of medicine

authors： Cambien F

更新日期：1996-10-01 00:00:00

abstract：:Cardiac rhythm during sleep was analysed in 168 healthy men aged 19 to 30 (mean 21.8) years using continuous nocturnal ECG recordings. Thirty five of the subjects were endurance athletes; 99 were recorded at home and 69 at a garrison during military service. The number of short term (less than one min) accelerations o...

journal_title：Annals of medicine

authors： Viitasalo M,Halonen L,Partinen M,Iivanainen M,Kala R,Eisalo A

更新日期：1991-04-01 00:00:00

abstract：:The calcium-sensing receptor is a G protein-coupled receptor that has a key role in extracellular calcium homeostasis, regulating the secretion of parathyroid hormone and the reabsorption of urinary calcium appropriate to the prevailing calcaemic environment. Molecular abnormalities of the calcium-sensing receptor are...

journal_title：Annals of medicine

authors： Pearce SH

更新日期：2002-01-01 00:00:00

abstract：:Alcoholism is a complex disorder involving both genetic and environmental factors and interactions between them. Localizing and characterizing the genetic influences on susceptibility to alcohol dependence may provide new insights into pathology and new avenues for treatment and prevention. However, because of the com...

journal_title：Annals of medicine

authors： Almasy L

更新日期：2003-01-01 00:00:00

abstract：:Lyme borreliosis is endemic in the Aland Islands. Exposure of the inhabitants to bites of the tick Ixodes ricinus is heavy. The purpose of this study was to describe symptoms and signs of patients with late Lyme borreliosis in this area, and to correlate the findings with the epidemiological setting. The first 100 con...

journal_title：Annals of medicine

authors： Wahlberg P,Granlund H,Nyman D,Panelius J,Seppälä I

更新日期：1993-08-01 00:00:00

abstract：BACKGROUND:H+/K+-ATPase is the target autoantigen in autoimmune gastritis (AIG), an organ-specific autoimmune disease with a strong hereditary component. AIM:To detect possible polymorphisms in H+/K+-ATPase alpha- and beta-subunits in AIG patients. METHODS:Blood samples from 12 Finnish AIG patients were sequenced for...

journal_title：Annals of medicine

authors： Oksanen AM,Lemmelä SM,Järvelä IE,Rautelin HI

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:Eastern-born male Finns, irrespective of their place of residence, have high mortality from coronary heart disease (CHD), and half of such deaths are sudden. AIM:To study whether eastern birthplace alone or combined with life-style factors predicts risk for prehospital sudden cardiac death (SCD) in the new ...

journal_title：Annals of medicine

authors： Tyynela P,Goebeler S,Ilveskoski E,Mikkelsson J,Perola M,Loytonen M,Karhunen PJ

更新日期：2009-01-01 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

authors： Jafar-Mohammadi B,McCarthy MI

更新日期：2008-01-01 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

authors： Björntorp P

更新日期：1992-12-01 00:00:00

abstract：INTRODUCTION:The association between sleep disturbances and cardiometabolic diseases has been understudied in blacks with metabolic syndrome. METHODS:This study is a cross-sectional analysis of the Metabolic Syndrome Outcome Study (MetSO) trial. We assessed insomnia symptoms, sleep duration, and risk for sleep apnea. ...

journal_title：Annals of medicine

authors： Ramos AR,Wallace DM,Pandi-Perumal SR,Williams NJ,Castor C,Sevick MA,Mcfarlane SI,Jean-Louis G

更新日期：2015-05-01 00:00:00

abstract：:INTRODUCTION. Premature ovarian failure (POF) can occur naturally at an early age or be due to iatrogenic agents. Indeed, ovaries are very sensitive to cytotoxic treatment, especially to radiation and alkylating agents. METHODS. Several options are currently available to preserve fertility in cancer patients and allow...

journal_title：Annals of medicine

authors： Donnez J,Silber S,Andersen CY,Demeestere I,Piver P,Meirow D,Pellicer A,Dolmans MM

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Commercial nucleic acid amplification tests, designed for the detection of Mycobacterium tuberculosis DNA/RNA in respiratory samples, are often applied also in nonrespiratory specimens in order to verify the diagnosis of extrapulmonary tuberculosis. AIM. To evaluate the value of the Abbott LCx Mycobacterium ...

journal_title：Annals of medicine

authors： Rantakokko-Jalava K,Marjamäki M,Marttila H,Mäkelä L,Valtonen V,Viljanen MK

更新日期：2001-02-01 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

authors： Donaldson MR,Yoon G,Fu YH,Ptacek LJ

更新日期：2004-01-01 00:00:00

abstract：BACKGROUND:The association between otitis media and vestibular symptoms has been hypothesized in the past. Thus, in this study, we aimed to critically analyze (based in a systematic review of the literature) whether patients who have otitis media are at greater risk of developing vestibular impairment or not. METHODS:...

journal_title：Annals of medicine

authors： Monsanto RDC,Kasemodel ALP,Tomaz A,Paparella MM,Penido NO

更新日期：2018-08-01 00:00:00

abstract：:The recent identification of mutations in the RET proto-oncogene that are associated with multiple endocrine neoplasia type 2 (MEN 2) syndromes has allowed therapeutic intervention in affected individuals on the basis of direct genetic testing. The principal endocrine neoplasm that occurs in patients with the MEN 2 sy...

journal_title：Annals of medicine

authors： Lairmore TC,Frisella MM,Wells SA Jr

更新日期：1996-10-01 00:00:00

abstract：:Thymoma is an unusual tumour, but it is the most common malignancy in the anterior mediastinum. This tumour is unique in its frequent association with paraneoplastic syndrome and its potential for indolent growth. The distinction between thymomas and other tumours which arise in the anterior or superior mediastinum is...

journal_title：Annals of medicine

authors： Loehrer PJ Sr

更新日期：1999-10-01 00:00:00

abstract：:Potatoes (Solanum tuberosum) are an important food crop worldwide and contribute key nutrients to the diet, including vitamin C, potassium, and dietary fiber. Potatoes and potato components have been shown to have favorable impacts on several measures of cardiometabolic health in animals and humans, including lowering...

journal_title：Annals of medicine

authors： McGill CR,Kurilich AC,Davignon J

更新日期：2013-11-01 00:00:00

abstract：:Symptoms of infection and tissue pathology are caused by the host response; not by the microbe per se. The same response is also critical for the defence and is needed to clear infection. It is therefore essential to understand how the host response is activated and to identify the critical effector mechanisms of the ...

journal_title：Annals of medicine

authors： Svanborg C,Bergsten G,Fischer H,Frendéus B,Godaly G,Gustafsson E,Hang L,Hedlund M,Karpman D,Lundstedt AC,Samuelsson M,Samuelsson P,Svensson M,Wullt B

更新日期：2001-12-01 00:00:00