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Recombinant Virus Vectors Treatment Glycogen Storage Disease Type∨derfield=score∨derval=desc PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Recombinant Virus Vectors Treatment Glycogen Storage Disease Type∨derfield=score∨derval=desc articles that have been published worldwide.
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Cerebrospinal fluid (CSF) levels of total tau (t-tau) protein are thought to reflect the intensity of the neuronal damage in neurodegeneration, including Alzheimer's disease (AD). The recent link of CSF t-tau to rapidly progressive AD raises the question among other AD clinical variants regarding CSF t-tau. We investigated the clinical phenotypes of AD patients with varying CSF t-tau levels.
Huntington's disease (HD) is a genetic disorder known for affecting motor control. Despite evidence for the impact of HD on visual cortico-striatal loops, evidence for impaired visual perceptual in early symptomatic HD patients is limited; much less is known about what happens during the HD prodrome.
Reply to Oliver W. Quarrell et al.: Letter in response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.
Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1).
As therapeutic trials target early stages of Parkinson's disease (PD), appropriate patient selection based purely on clinical criteria poses significant challenges. Members of the Critical Path for Parkinson's Consortium formally submitted documentation to the European Medicines Agency (EMA) supporting the use of Dopamine Transporter (DAT) neuroimaging in early PD. Regulatory documents included a comprehensive literature review, a proposed analysis plan of both observational and clinical trial data, and an ...
Breast cancer has the highest cancer prevalence rate among the women worldwide. Early detection of breast cancer is crucial for successful treatment and reducing cancer mortality rate. However, tumor detection of breast ultrasound (US) image is still a challenging work in computer-aided diagnosis (CAD).
A GI Quality improvement consortium registry study published in this issue of The American Journal of Gastroenterology confirms the lack of adherence to surveillance intervals and guidelines in patients with Barrett's esophagus (BE). Given the widespread use of upper endoscopy for evaluation of patients with gastroesophageal reflux disease and surveillance of BE, the lack of well-defined standard criteria for performing a high quality upper endoscopy calls for the establishment of valid quality indicators i...
Sarcoidosis is a multisystemic granulomatous disease, which commonly affects the lung. The natural course of the disease and prognosis are variable from asymptomatic, spontaneous remission to progressive disease, which requires treatment. Once treatment is initiated, tapering therapy can be problematic.
Noninvasive ventilation (NIV) is an established treatment for chronic hypercapnic respiratory failure (CRF). Volume-assured pressure support (VAPS) is a mode of NIV that automatically adjusts inspiratory pressure in order to maintain a constant respiratory volume. We aim to discuss the role and application of VAPS in CRF.
HIV atherosclerosis and cardiovascular disease (CVD) represent a significant human health burden in the era of combination antiretroviral therapy (cART). The pathogenesis of HIV atherosclerosis is still poorly understood, due, in part, to the lack of a suitable small animal model. Indoleamine-2,3-dioxygenase (IDO) enzyme activity is the first and rate-limiting step in tryptophan catabolism and is measured by the kynurenine to tryptophan ratio (KTR). The serum KTR is a biomarker of inflammation and has recen...
Although diabetes is more common in HIV patients, the direct link between HIV and diabetes is unknown. Glucose abnormalities should be assessed among antiretroviral treatment (ART)-naive patients to reduce confounding by ART. We assessed diabetes status, insulin function and association with inflammation among Ethiopian ART-naive HIV patients.
Creutzfeldt-Jakob disease (CJD) is a complex and rapidly fatal prion infection of the central nervous system with characteristic clinical and pathological findings. Herein, we present the case of an 80-year-old man with a 2-month history of rapid cognitive decline and ataxic gait. He was found to have a positive rapid plasma reagin and fluorescent treponemal antibody absorption (FTA-ABS) upon clinical testing and was presumed to have neurosyphilis. His neurological status precipitously declined during his h...
We report data from an observational cohort of South African children living with HIV
Breathlessness debilitates countless people with a wide range of common diseases. For some people, the experience of breathlessness is poorly explained by the findings of medical tests. This disparity complicates diagnostic and treatment options and means that disease-modifying treatments do not always have the expected effect upon symptoms. These observations suggest that brain processing of respiratory perceptions may be somewhat independent of disease processes. This may help to explain the dissonance ob...
Dedicated cadmium-zinc-telluride cardiac cameras have been shown to provide accurate measurements of absolute myocardial blood flow and flow reserve when PET is not available. We report the case of a 66-year-old woman who underwent 1-day stress/rest myocardial perfusion imaging (MPI) for coronary artery disease (CAD) screening. Relative MPI analysis was normal, whereas low-dose CT showed high calcium score. Myocardial blood flow and flow reserve were strongly impaired in all territories. Coronary angiograph...
A 49-year-old patient with metastatic melanoma was treated with nivolumab (Opdivo). An early F-FDG PET/CT after 2 cycles showed a progressive metabolic disease. A 4-month optimal follow-up F-FDG PET/CT showed a complete metabolic response. The treatment was stopped after 22 cycles because of immunotherapy-related pneumonitis. After discontinuation of treatment, PET/CT examinations demonstrated a metabolic complete remission during 2 years. The metabolic pattern on early PET was suggestive of pseudoprogressi...
PSMA PET/CT is known to show uptake in various benign and malignant processes. The following PSMA PET/CT was performed for prostate carcinoma staging (Gleason 3 + 4 left apex; PSA 5.8). It shows incidental diffuse PSMA marrow uptake, not typical for prostate metastatic disease. No treatment had been commenced at the time of the scan. Serology and bone marrow biopsy showed B-cell acute lymphocytic leukemia. Focal PSMA uptake in the right ischium was correlated with a T1 hypointense lesion on a previous MRI a...
Falx cerebri ossification is an incidental finding. Mostly it is easy to diagnose, but can be challenging in few cases, and should be distinguished from calcified meningioma, hematoma, and meningeal infiltration. We report a case of a 46-year-old woman with breast cancer complaining of back pain. F-NaF PET/CT images show focal increase uptake at facet joints of L5/S1 vertebrae and both knees joints, suggesting degenerative disease. There is normal variant F-NaF uptake noted in the ossification at the falx c...
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease with a strong neuroinflammatory component. This review summarizes how the connection between neurodegeneration and the immune system is strengthened by new discoveries from ALS genetics and the analysis of subpopulations of immune cells in ALS.
The current review addresses one of the most common neurological disorders, diabetic polyneuropathy (DPN). DPN is debilitating, irreversible and dwarfs the prevalence of most other chronic disorders of the nervous system. Its complications include foot ulceration, amputation, falling and intractable neuropathic pain. Moreover, tight control of hyperglycemia reduces the incidence of DPN in type 1 diabetes mellitus but its role in type 2 diabetes mellitus is less clear.
Chemotherapy-induced peripheral neuropathy (CIPN) is a common and distressing side-effect of many chemotherapy regimens. Currently, aside from symptomatic treatments for neuropathic pain, there are no treatments to prevent CIPN or treat established CIPN. We discuss recent articles addressing clinimetric issues and treatment of CIPN.
The purpose of this study is to determine the utility of obtaining herpes simplex virus (HSV) serology for patients presenting with chronic corneal pathology of unknown etiology for which HSV is a diagnostic consideration.
IPX203 is an investigational oral extended-release capsule formulation of carbidopa and levodopa. The pharmacodynamics and efficacy of IPX203 were compared with immediate-release carbidopa-levodopa (IR CD-LD) in this open-label, rater-blinded, multicenter, crossover study in patients with advanced Parkinson disease (PD).
Collagen type IV (COL4)-related nephropathy includes a variety of kidney diseases that occur with or without extra-renal manifestations caused by COL4A3-5 mutations. Previous studies revealed several novel mutations, including three COL4A3 missense mutations (G619R, G801R, and C1616Y) and the COL4A3 chr:228172489delA c.4317delA p.Thr1440ProfsX87 frameshift mutation that resulted in a truncated NC1 domain (hereafter named COL4A3 c.4317delA); however, the mutation mechanisms that lead to podocyte injury remai...