Concussions and their consequences: current diagnosis, management and prevention.
Ontology highlight
ABSTRACT:
SUBMITTER: Tator CH
PROVIDER: S-EPMC3735746 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Publications
Concussions and their consequences: current diagnosis, management and prevention.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 20130722 11
Similar Datasets
Project description:Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical signs and symptoms, diagnosis, and management of ABL, and 2) propose diagnostic criteria that define eligibility to receive financial support from the Japanese government for patients with ABL as a rare and intractable disease. In addition, our diagnostic criteria and the entry criterion of low-density lipoprotein cholesterol (LDL-C) ＜15 mg/dL and apoB ＜15 mg/dL can be useful in universal or opportunistic screening for the disease. Registry research on ABL is currently ongoing to better understand the disease burden and unmet needs of this life-threatening disease with few therapeutic options.
| S-EPMC8560840 | biostudies-literature
Project description:Primary chylomicronemia (PCM) is a rare and intractable disease characterized by marked accumulation of chylomicrons in plasma. The levels of plasma triglycerides (TGs) typically range from 1,000 - 15,000 mg/dL or higher.PCM is caused by defects in the lipoprotein lipase (LPL) pathway due to genetic mutations, autoantibodies, or unidentified causes. The monogenic type is typically inherited as an autosomal recessive trait with loss-of-function mutations in LPL pathway genes (LPL, LMF1, GPIHBP1, APOC2, and APOA5). Secondary/environmental factors (diabetes, alcohol intake, pregnancy, etc.) often exacerbate hypertriglyceridemia (HTG). The signs, symptoms, and complications of chylomicronemia include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, and acute pancreatitis with onset as early as in infancy. Acute pancreatitis can be fatal and recurrent episodes of abdominal pain may lead to dietary fat intolerance and failure to thrive.The main goal of treatment is to prevent acute pancreatitis by reducing plasma TG levels to at least less than 500-1,000 mg/dL. However, current TG-lowering medications are generally ineffective for PCM. The only other treatment options are modulation of secondary/environmental factors. Most patients need strict dietary fat restriction, which is often difficult to maintain and likely affects their quality of life.Timely diagnosis is critical for the best prognosis with currently available management, but PCM is often misdiagnosed and undertreated. The aim of this review is firstly to summarize the pathogenesis, signs, symptoms, diagnosis, and management of PCM, and secondly to propose simple diagnostic criteria that can be readily translated into general clinical practice to improve the diagnostic rate of PCM. In fact, these criteria are currently used to define eligibility to receive social support from the Japanese government for PCM as a rare and intractable disease.Nevertheless, further research to unravel the molecular pathogenesis and develop effective therapeutic modalities is warranted. Nationwide registry research on PCM is currently ongoing in Japan with the aim of better understanding the disease burden as well as the unmet needs of this life-threatening disease with poor therapeutic options.
| S-EPMC8532063 | biostudies-literature
Project description:Hypersensitivity Pneumonitis (HP) one of the most common interstitial lung diseases (ILDs) is characterized by exposure to an inhaled inciting antigen that leads to a host immunologic reaction determining interstitial inflammation and architectural distortion. The underlying pathogenetic mechanisms are unclear. The absence of international shared diagnostic guidelines and the lack of a "gold-standard" test for HP combined with the presence of several clinical and radiologic overlapping features makes it particularly challenging to differentiate HP from other ILDs, also in expert contests. Radiology is playing a more crucial role in this process; recently the headcheese sign was recognized as a more specific for chronic-HP than the extensive mosaic attenuation. Several classification proposals and diagnostic models have been advanced by different groups, with no prospective validation. Therapeutic options for HP have been limited to antigen avoidance and immunosuppressant drugs over the last decades. Several questions about this condition remain unanswered and there is a need for more studies.
| S-EPMC7105432 | biostudies-literature
Project description:Respiratory syncytial virus (RSV) is responsible for a large burden of disease globally and can present as a variety of clinical syndromes in children of all ages. Bronchiolitis in infants under 1 year of age is the most common clinical presentation hospitalizing 24.2 per 1000 infants each year in the United Kingdom. RSV has been shown to account for 22% of all episodes of acute lower respiratory tract infection in children globally. RSV hospitalization, that is, RSV severe disease, has also been associated with subsequent chronic respiratory morbidity. Routine viral testing in all children is not currently recommended by the United Kingdom National Institute for Health and Care Excellence (NICE) or the American Academy of Pediatrics (AAP) guidance and management is largely supportive. There is some evidence for the use of ribavirin in severely immunocompromised children. Emphasis is placed on prevention of RSV infection through infection control measures both in hospital and in the community, and the use of the RSV-specific monoclonal antibody, palivizumab, for certain high-risk groups of infants. New RSV antivirals and vaccines are currently in development. Ongoing work is needed to improve the prevention of RSV infection, not only because of the acute morbidity and mortality, but also to reduce the associated chronic respiratory morbidity after severe infection.
| S-EPMC6664627 | biostudies-literature
Project description:Endoscopic retrograde cholangiopancreatography (ERCP) carries a post-ERCP pancreatitis (PEP) rate of 2-10%, which could be as high as 30-50% in high-risk cases. PEP is severe in up to 5% of cases, with potential for life-threatening complications, including multi-organ failure, peripancreatic fluid collections, and death in up to 1% of cases. The risk of PEP is potentially predictable and may be modified with pharmacological measures and endoscopist technique. This review covers the definition, epidemiology and risk factors for PEP, with a focus on the latest evidence-based medical and endoscopic strategies to prevent and manage PEP.
| S-EPMC9502657 | biostudies-literature
Project description:Chronic obstructive pulmonary disease (COPD) affects one-tenth of the world's population and has been identified as a major global unmet health need by the World Health Organisation, which predicts that within 10 years, COPD will become the third leading cause of death. Despite active research, there have been no recent major strides in terms of disease modifying treatment for COPD; smoking cessation remains the only intervention known to alter disease progression and improve mortality. As established COPD is a key driver of disease burden, earlier diagnosis coupled with disease-modifying intervention carries promise as a route to address this global health priority. The concept of early COPD is emerging as an area of focus for research and consideration of new treatment modalities, as it has been hypothesised that intervention at this stage may potentially halt or reverse the disease process. However, at present, a globally accepted criteria for defining early COPD does not exist. Several studies propose small airways disease as the earliest stage in the development of COPD, and this has been demonstrated to be a precursor to development of emphysema and to correlate with subsequent development of airflow obstruction. However, treatment strategies for early disease, which pre-date the development of airflow obstruction, remain uncertain. This review addresses the rationale and current evidence base for the diagnosis and treatment of early COPD and highlights the challenges of implementing trials and clinical pathways to address COPD earlier in the life course, particularly in the absence of a universally accepted definition of COPD.The reviews of this paper are available via the supplemental material section.
| S-EPMC7394029 | biostudies-literature
Project description:Acute hyperammonemia may induce a neurologic impairment leading to an acute life-threatening condition. Coma duration, ammonia peak level, and hyperammonemia duration are the main risk factors of hyperammonemia-related neurologic deficits and death. In children, hyperammonemia is mainly caused by severe liver failure and inborn errors of metabolism. In an acute setting, obtaining reliable plasma ammonia levels can be challenging because of the preanalytical difficulties that need to be addressed carefully. The management of hyperammonemia includes 1) identification of precipitating factors and cerebral edema presence, 2) a decrease in ammonia production by reducing protein intake and reversing catabolism, and 3) ammonia removal with pharmacologic treatment and, in the most severe cases, with extracorporeal therapies. In case of severe coma, transcranial Doppler ultrasound could be the method of choice to noninvasively monitor cerebral blood flow and titrate therapies.
| S-EPMC6140721 | biostudies-literature
Project description:Study designReview.ObjectivesCervical spondylotic myelopathy (CSM) is a major cause of disability, particular in elderly patients. Awareness and understanding of CSM is imperative to facilitate early diagnosis and management. This review article addresses CSM with regard to its epidemiology, anatomical considerations, pathophysiology, clinical manifestations, imaging characteristics, treatment approaches and outcomes, and the cost-effectiveness of surgical options.MethodsThe authors performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives.ResultsThe clinical presentation and natural history of CSM is variable, alternating between quiescent and insidious to stepwise decline or rapid neurological deterioration. For mild CSM, conservative options could be employed with careful observation. However, surgical intervention has shown to be superior for moderate to severe CSM. The success of operative or conservative management of CSM is multifactorial and high-quality studies are lacking. The optimal surgical approach is still under debate, and can vary depending on the number of levels involved, location of the pathology and baseline cervical sagittal alignment.ConclusionsEarly recognition and treatment of CSM, before the onset of spinal cord damage, is essential for optimal outcomes. The goal of surgery is to decompress the cord with expansion of the spinal canal, while restoring cervical lordosis, and stabilizing when the risk of cervical kyphosis is high. Further high-quality randomized clinical studies with long-term follow up are still needed to further define the natural history and help predict the ideal surgical strategy.
| S-EPMC5582708 | biostudies-literature
Project description:Uveal melanoma, which is the most common primary intraocular malignancy in adults, arises from melanocytes within the iris, ciliary body and choroid. The diagnosis is based principally on clinical examination of the tumor with biomicroscopy and indirect ophthalmoscopy and confirmed by diagnostic techniques such as ultrasonography, fundus fluorescein angiography and optical coherence tomography. The clinical diagnosis of posterior uveal melanomas can be made when the classical appearance of a pigmented dome-shaped mass is detected on dilated fundus exam. Uveal melanomas classically show low to medium reflectivity on A-scan ultrasonography and on B-scan ultrasonography the tumor appears as a hyperechoic, acoustically hollow intraocular mass. Management of a suspicious pigmented lesion is determined by its risk factors of transforming into a choroidal melanoma, such as documentation of growth, thickness greater than 2 mm, presence of subretinal fluid, symptoms and orange pigment, margin within 3 mm of the optic disc, and absence of halo and drusen. Advances in the diagnosis and local and systemic treatment of uveal melanoma have caused a shift from enucleation to eye-conserving treatment modalities including transpupillary thermotherapy and radiotherapy over the past few decades. Prognosis can be most accurately predicted by genetic profiling of fine needle aspiration biopsy of the tumor before the treatment, and high-risk patients can now be identified for clinical trials that may lead to target-based therapies for metastatic disease and adjuvant therapy which aims to prevent metastatic disease.
| S-EPMC5076295 | biostudies-other
Project description:The prevention and treatment of iron deficiency is a major public health goal. Challenges in the treatment of iron deficiency include finding and addressing the underlying cause and the selection of an iron replacement product which meets the needs of the patient. However, there are a number of non-evidence-based misconceptions regarding the diagnosis and management of iron deficiency, with or without anaemia, as well as inconsistency of terminology and lack of clear guidance on clinical pathways. In particular, the pathogenesis of iron deficiency is still frequently not addressed and iron not replaced, with indiscriminate red cell transfusion used as a default therapy. In our experience, this imprudent practice continues to be endorsed by non-evidence-based misconceptions. The intent of the authors is to provide a consensus that effectively challenges these misconceptions, and to highlight evidence-based alternatives for appropriate management (referred to as key points). We believe that this approach to the management of iron deficiency may be beneficial for both patients and healthcare systems. We stress that this paper solely presents the Authors' independent opinions. No pharmaceutical company funded or influenced the conception, development or writing of the manuscript.
| S-EPMC5589705 | biostudies-literature