Family history (FH) studies have been used to quantify the heritable component of diseases for centuries. Genome-wide association studies (GWAS) in both coronary artery disease (CAD) and stroke have implicated several gene loci in these diseases and have shed light on biological mechanisms, but have not yet yielded fruit in ...

Background: Essential tremor (ET), a progressive, age-associated disease, is one of the most common neurological disorders. Yet until recently, there had been few postmortem examinations so that the full range of pathological changes associated with this disease has not been catalogued. Objectives: We report a patient with ET who had ...

ABSTRACT: Alzheimer's disease (AD) is a progressive neurodegenerative disease and in its familial form is associated with mutations in the amyloid precursor protein (APP) and the presenilins (PSs). Much data regarding the interactions of APP, its proteolytic fragments and PS have been generated, expanding our understanding of the roles of ...

Abstract Familial amyloidotic polyneuropathy (FAP) is a worldwide disease with various clinical presentations according to geographical origin of the cases. Brazil is a country of Portuguese colonization and Portuguese descendants are estimated to be more than 25 millions. The Brazilian FAP population was characterized in this text as having basically ...

Background A small proportion of cases seen in neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS), Parkinson's disease and Alzheimer disease are familial. These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene ...

Recent years have witnessed a renewed interest in the pathogenic mechanisms of Amyotrophic Lateral Sclerosis (ALS), a late-onset progressive degeneration of motor neurons. The discovery of new genes associated with the familial form of the disease, together with a deeper insight into pathways already described for this disease, has led ...

Identifying risk factors for Alzheimer's disease, such as carrying the APOE-4 allele, and understanding their contributions to disease pathophysiology or clinical presentation is critical for establishing and improving diagnostic and therapeutic strategies. A first-degree family history of Alzheimer's disease represents a composite risk factor, which reflects the influence of known ...

Aims and objectives.  This study aimed to understand the experiences of Iranian family caregivers of persons with Alzheimer's disease. Background.  Increasing rate of Alzheimer's disease along with the ageing population has made this disease an urgent public health challenge worldwide. As non-professional caregivers, family members play a significant role in ...

We present a 19-year-old woman with a biochemically secured diagnosis of Niemann-Pick type C disease that was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper. This report supports the hypothesis that Niemann-Pick type C disease has a role in copper transport.

Seven members of the aquaporin (AQP) family are expressed in different regions of the kidney. AQP1-4 are localized in plasma membranes of renal epithelial cells and are intimately involved in water reabsorption by the kidney. AQP7 is also localized in the plasma membrane and may facilitate glycerol transport. AQP6 and ...

BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting ATPase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the ...

Mutations in SNCA, PINK1, parkin, and DJ-1 are associated with autosomal-dominant or autosomal-recessive forms of Parkinson's disease (PD), the second most common neurodegenerative disorder. Studies on the structural and functional properties of the corresponding gene products have provided significant insights into the molecular underpinnings of familial PD and the much ...

Darier's disease is a genetic disorder of keratinization with autosomal dominant inheritance. Its appearance is usually in the form of greasy, crusted, keratotic yellow-brown papules and plaques found particularly on seborrheic areas of the body. However, there are some clinical variants showing atypical skin lesions. Here we report an unusual ...

We report a patient with familial α-lipoprotein deficiency (Tangier disease) who presented with recurrent lobar intracerebral hemorrhages and accumulating microbleeds on T∗2-weighted magnetic resonance imaging, suggestive of probable cerebral amyloid angiopathy. This case provides new insight into the links between the Adenotriphosphate-Binding Cassette A1 (ABCA1) transporter gene mutation in Tangier ...

Dopamine transporter single-photon emission computerized tomography can visualize dopaminergic degeneration in Parkinson's disease and multiple system atrophy. Some studies have suggested that dopamine transporter imaging can distinguish these disorders based on a more diffuse and symmetric striatal dopamine transporter binding loss in multiple system atrophy. The present study compared patterns ...

Abstract Gallstones are a common and costly disease with a projected increase in prevalence due to an expanding ageing population. Numerous endogenous and environmental factors are aetiologically related to this multifactorial disease, and genetic studies continue to unravel pathobiological mechanisms related to gallstone development. In particular, variants of genes encoding ...

Parkinson's disease is a relentlessly progressive neurodegenerative disease. Breakdown of compensatory mechanisms influencing putaminal dopamine processing could contribute to the progressive motor symptoms. We studied a cohort of 78 subjects (at baseline) with sporadic Parkinson's disease and 35 healthy controls with multi-tracer positron emission tomography scans to investigate the evolution ...

Owing to therapeutic progress, the role of ABC-transporters in infectious and autoimmune inflammatory CNS-diseases has recently gained considerable attention. In HIV-encephalitis and HIV-associated neurocognitive disorders, ABC-transporters are discussed to contribute to limited CNS-penetration and -retention of antiviral agents. In multiple sclerosis and its animal model experimental autoimmune encephalomyelitis, ABC-transporters may ...

ABSTRACT: BACKGROUND: People who die from heart disease at home before any attempt at transport has been made may represent missed opportunities for life-saving medical intervention. In this study, we undertook a point-pattern spatial analysis of heart disease deaths occurring before transport in a large metropolitan area to determine whether ...

Several neurodegenerative disorders, including Parkinson disease (PD), are characterized by the presence of Lewy bodies - cytoplasmic inclusions containing α-synuclein protein aggregates - in the affected neurons. A poorly understood feature of Lewy body diseases is loss of sympathetic nerves in the heart and other organs, manifesting as orthostatic hypotension ...

BACKGROUND AND AIM: Individuals with coeliac disease have increased risk of depression and death from external causes, but conclusive studies on death from suicide are missing. We examined the risk of suicide in coeliac disease and amongst individuals where the small intestinal biopsy showed no villous atrophy. METHODS: We collected ...

Study Design. A population-based study of suicides and linkage with national hospital discharge registers.Objective. To investigate the prevalence of hospital-treated musculoskeletal diseases, particularly back pain, among suicide victims, to compare suicide characteristics between victims with and without musculoskeletal diseases, to analyse co-morbidity between musculoskeletal diseases and psychiatric disorders, and to ...

Input-output analysis was used to calculate the economic impacts from potential prion diseases outbreaks in Alberta and the rest of Canada. Both chronic wasting disease (CWD) and bovine spongiform encephalopathy (BSE) have the capacity not only to affect the farmed cervid and cattle industries, but also to impact all industries ...

although osteoarthritis (OA) is generally assessed using standard radiographic images in clinical practice, biochemical markers can be used to detect the disease and determine its severity. Osteopontin (OPN) is an extracellular matrix glycoprotein that is a potential inflammatory cytokine. Presence of the thrombin-cleaved form of OPN is well correlated with ...

Bone and joint infection complicating tuberculosis is most likely to involve vertebrae. Pott disease, or tuberculous spondylitis, represents a small proportion of tuberculosis cases, but it can be associated with significant morbidity and mortality. Our case report details Pott disease in a teenage girl, which presented with a sternal mass. ...

Inflammatory joint diseases are responsible of chronic systemic inflammation, joint degradations, deformities, and altered quality of life. Patients suffering from chronic rheumatic diseases also present increased bone fragility and increased fracture risk. Registration of biologic therapies has deeply modified care in rheumatic diseases, especially in rheumatoid arthritis and ankylosing spondylitis. ...

Key challenges in the management of spondyloarthritis focus on the lack of availability of measures of disease activity and the inability to predict joint damage or response to treatment, which is expensive and associated with potentially serious toxicity. Recent studies have focused on the possible contribution of soluble biomarkers, which ...

Osteoarthritis (OA) of the hand is highly prevalent in US senior citizens, developing in >50% of individuals aged >60 years. Hormonal, genetic and inflammatory mechanisms are known to increase the risk of hand OA and influence the course of the disease. However, the underlying processes in the development of hand ...

PURPOSE OF REVIEW: To review the role of biomechanics in the pathogenesis of lower-extremity osteoarthritis and recent advances in biomechanically active intervention strategies for osteoarthritis. RECENT FINDINGS: The conventional approach to treating knee osteoarthritis with analgesics and physical therapy has not been shown to alter the natural history of the ...

Chondrogenic dwarfism in Morquio disease (mucopolysaccharidosis IV) has been suggested to be strongly linked to the abnormal lysosomal storage of cartilaginous extracellular matrix waste products within chondrocytes and fibroblasts. The specific genetic defects of enzymes of the keratan sulfate and chondroitin-6-sulfate metabolism have been detected at the molecular level and ...

Osteoarthritis is one of the most common forms of musculoskeletal disease and the most prominent type of arthritis encountered in all countries. Although great efforts have been made to investigate cartilage biology and osteoarthritis pathology, the treatment has lagged behind that of other arthritides, as there is a lack of ...

Biologics including tumor necrosis factor α (TNF-α), interleukin-6 receptor (IL-6R), T and B cell inhibitors are very effective therapeutic agents for the treatment of arthritides. These compounds effectively improve articular symptoms and inhibit joint damage. In this respect, there are no major differences in the efficacy of the available biologics. ...

To investigate discrimination ability of the Assessment of Spondyloarthritis International Society (ASAS) endorsed disease activity score (ASDAS) versions evaluating low and high disease activity in an unselected group of patients with ankylosing spondylitis (AS). Patients consecutively included into the joint database of five university hospitals were analyzed for low or ...

We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later. The history of the disease, ...

PURPOSE OF REVIEW: Psoriatic arthritis (PsA) is the second most commonly identified inflammatory arthropathy in early arthritis clinics. It is a complex multisystem disease involving the skin and joints, but may also present with inflammation of the spine - spondylitis, digits - dactylitis, eyes - uveitis and ligamentous insertions - ...

Septic arthritis may represent a direct invasion of joint space by various microorganisms, including bacteria, viruses and fungi. Although any infectious agent may cause bacterial arthritis, bacterial pathogens are the most significant because of their rapidly destructive nature. We present a case of septic arthritis in a 56-year old male ...

Osteoarthritis (OA) results in the destruction and breakdown of articular cartilage matrix. Breakdown of the cartilage proteoglycan component results in the generation of constituent fragments that can be detected in the blood, synovial fluid or urine. Non-collagenous, non-proteoglycan components of cartilage can also be detected following their release as a ...

In this paper past research on the natural history of Mseleni joint disease, a crippling endemic osteoarthritis, its socio-economic impacts, the demographics, diet, geology and the genetic background of affected people are reviewed. In addition, some new research ideas are suggested to continue the search for etiological avenues for this ...

Ankylosing Spondylitis (AS) is an autoimmune disease of unknown cause belonging to the group of spondyloarthritides associated with HLA B27. This disease affects the spine and sacroiliac joints, but may also concern peripheral joints and different organs. Symptoms include morning stiffness and dull low back pain, both improving by exercise. ...

Osteoarthritis (OA) is the most prevalent arthritis in the world with increasing numbers of people expected to acquire the disease as the population ages. Therapies commonly used to manage the disease have limited efficacy and some carry significant risks. Current data suggest that the anti-inflammatory cytokine IL-1 receptor antagonist (IL-1Ra) ...

Osteoarthritis, the degeneration of the joints, is the leading source of physical disability with severely impaired quality of life due to pain and loss of joint functioning in industrialized nations. Clinically, degeneration affects mostly the large weight bearing joints of the legs like the hip or the knees, but in ...

Therapeutic alleviation of the pathophysiology of osteoarthritis (OA) is a great and unmet medical challenge. At the basic science level, significant progress has facilitated the identification of distinct pathways and targets which appear to be central to the OA-associated deterioration of articular cartilage. For example, the dysregulated activities of aggrecanases ...

The aim of this review is to discuss the potential usefulness of novel advances in the class of biochemical markers, neo-epitopes. Neo-epitopes are post-translational modifications (PTMs) of proteins formed by processes such as protease cleavage, citrullination, nitrosylation, glycosylation and isomerization. Each modification results from a specific local physiological or pathobiologial ...

The stifle joint of dogs is an organ comprised of multiple tissue types that must work in concert to maintain joint health and function. Cruciate disease in dogs is caused by a spectrum of causal and risk factors that result in a final common pathway of abnormal biomechanics and abnormal ...

We compared symptoms to radiographic disease in the medial (less weight bearing) and axial and superolateral (greater weight bearing) compartments in total hip arthroplasty patients. Western Ontario and McMaster Universities Osteoarthritis Index scores (0 [best] to 100 [worst]) were better for patients with more medial than axial radiographic disease for ...

We evaluated the Finnish Hospital Infection Program (SIRO) conducting incidence surveillance for prosthetic joint infection (PJI) from 1999 to 2004. We estimated its sensitivity using capture-recapture methods and assessed the disease burden of PJIs after hip (THA) and knee (TKA) arthroplasties (N = 13 482). The following three data sources ...

Osteoarthritis (OA) is a chronic degenerative joint disorder characterized by destruction of the articular cartilage, subchondral bone alterations and synovitis. Current treatments are focused on symptomatic relief but they lack efficacy to control the progression of this disease which is a leading cause of disability. Therefore, the development of effective ...

Charcot spinal disease is a destructive degenerative process involving the vertebrae and surrounding discs, resulting from repetitive microtrauma in patients who have decreased joint protective mechanisms due to loss of deep pain and proprioceptive sensation. The typical presentation of the disease is back pain and progressive spinal instability and deformity. ...

Fabry disease (FD) is an X-linked lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data is limited regarding skeletal involvement in this rare disorder. We describe four family-related patients, three men and one ...

The aim of this study was to assess the use of anti-CD3, labelled with technetium-99m scintigraphy, for evaluating the joints of patients with RA, juvenile idiopathic arthritis (JIA), OA and gouty arthritis, and to establish the diagnosis parameters for each disease. We evaluated 2044 joints from 77 patients with rheumatic ...