Search results for "PROGRESS"
showing 10 items of 1620 documents
Mucopolysaccharidosis Type VII (Sly disease) survivors
2013
treatment. Onset of neurological symptoms at age 8 and in adolescence. Pair 4: L.M. died at age 5 months due to liver failure. P.M. (7 years): earlyinfantile form, despite treatment start at age 2 progressive neurological deterioration. Pair 5: R.K.: late-infantile form, untreated, died at age 9 due to progressive neurological involvement. M.K.: late infantileform, start of treatment at age 5, died at age 13 due to epileptic encephalopathy. These cases reveal that disease onset and progression in siblings with NPC vary, and that miglustat can slow disease progression.
Nutritional and global indexes of progression in dementia: a 12-month prospective study.
2012
Background: To assess the influence of body mass index (BMI) on the progression of dementia. Methods: Sixty elderly outpatients with untreated dementia followed for 12 months. All patients underwent clinical, cognitive, functional, and nutritional assessment at the baseline and after 12 months. Patients were divided into 2 groups by baseline BMI (< or ≥25 kg/m2). Results: Participants with a baseline BMI ≥25 kg/m2 had significantly higher Mini-Mental State Examination (MMSE) scores (21 ± 5.1 vs 15.9 ± 5.5; P < .001), while clinical dementia rating (CDR) and multidimensional prognostic index (MPI) scores were similar in the 2 groups. After 12 months, the MMSE score decreased significan…
Actinopathies and Myosinopathies
2009
The currently recognized two forms of "anabolic" protein aggregate myopathies, that is, defects in development, maturation and final formation of respective actin and myosin filaments encompass actinopathies and myosinopathies. The former are marked by mutations in the ACTA1 gene, largely of the de novo type. Aggregates of actin filaments are deposited within muscle fibers. Early clinical onset is often congenital; most patients run a rapidly progressive course and die during their first 2 years of life. Myosinopathies or myosin storage myopathies also commence in childhood, but show a much more protracted course owing to mutations in the myosin heavy chain gene MYH7. Protein aggregation co…
Efficacy of a House Dust Mite Sublingual Allergen Immunotherapy Tablet in Adults With Allergic Asthma: A Randomized Clinical Trial.
2016
Importance The house dust mite (HDM) sublingual allergen immunotherapy (SLIT) tablet is a potential novel treatment option for HDM allergy–related asthma. Objectives To evaluate the efficacy and adverse events of the HDM SLIT tablet vs placebo for asthma exacerbations during an inhaled corticosteroid (ICS) reduction period. Design, Settings, and Participants Double-blind, randomized, placebo-controlled trial conducted between August 2011 and April 2013 in 109 European trial sites. The trial included 834 adults with HDM allergy–related asthma not well controlled by ICS or combination products, and with HDM allergy–related rhinitis. Key exclusion criteria were FEV 1 less than 70% of predicted…
Treatment of relapsing-remitting multiple sclerosis after 24 doses of natalizumab: evidence from an Italian spontaneous, prospective, and observation…
2014
Importance The evaluation of therapeutic choices is needed after 24 doses of natalizumab in patients with multiple sclerosis (MS). Objective To evaluate the effect of therapeutic choices on the mean annualized relapse rate and on magnetic resonance imaging MS activity after 24 doses of natalizumab in patients with relapsing-remitting MS. Design, Setting, and Participants The TY-STOP study, which recruited participants between October 22, 2010, and October 22, 2012, at 8 Italian MS centers (secondary care outpatient clinics) among 124 adult patients who demonstrated no clinical or magnetic resonance imaging MS activity after 24 doses of natalizumab. Interventions Natalizumab, no treatment, i…
Treatment of early childhood medulloblastoma by postoperative chemotherapy and deferred radiotherapy
2008
To investigate the utility of postoperative chemotherapy in delaying radiotherapy and to identify prognostic factors in early childhood medulloblastoma, we studied children younger than 3 years of age registered to the HIT-SKK'87 (Therapieprotokoll für Säuglinge und Kleinkinder mit Hirntumoren [Brain Tumor Radiotherapy for Infants and Toddlers with Medulloblastoma] 1987) trial who received systemic interval chemotherapy until craniospinal radiotherapy was applied at 3 years of age or at relapse, from 1987 to 1993. Children with postoperative residual tumor or metastatic disease received systemic induction chemotherapy prior to interval chemotherapy. Twenty-nine children were eligible for an…
Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers.
2020
Background and aims Carriage of rs738409:G in patatin-like phospholipase domain containing 3 (PNPLA3) is associated with an increased risk for developing alcohol-related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with carriage of PNPLA3 rs738409:G. This study explores the risk associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC. Approach and results Variants in HSD17B13 and PNPLA3 were genotyped in 6,171 participants, including 1,03…
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
2013
Globotriaosylceramide concentrations were assessed as potential predictors of change from baseline after 12 months by estimated glomerular filtration rate and left-ventricular mass index using pooled data from three randomized, placebo-controlled agalsidase alfa trials and open-label extensions of patients with Fabry disease.Males (aged 18 years or older) with Fabry disease received agalsidase alfa (0.2 mg/kg every other week for 12 months). A backward-elimination approach evaluated potential predictors (baseline estimated glomerular filtration rate and left-ventricular mass index; age at first dose; baseline and change from baseline at 12 months of globotriaosylceramide (urine, plasma); ur…
Early stage human colorectal cancer: prognostic value of nm23-H1 protein overexpression
1997
Nm23 gene codifies for a nucleoside diphosphate kinase allowing the intracellular transduction of the signals. In colorectal cancer nm23 protein expression seems related to the progression of the disease. By immunohistochemistry we have studied the intracytoplasmatic nm23 H1 protein expression in 20 patients affected by colorectal cancer at initial stage. In 12 cases it resulted elevated and in four the disease recurred. The overexpression was not correlated with other prognostic factors. Nm23 H1-positive patients affected by colorectal cancer at initial stage could be considered at risk for disease recurrence and included in a more frequent follow-up protocol.
Gemcitabine and docetaxel every 2 weeks in advanced non-small cell lung cancer: a phase II study of the Gruppo Oncologico Italia Meridionale
2002
Abstract Introduction: Platinum-based chemotherapy is the gold standard in advanced non-small cell lung cancer (NSCLC), although with relevant toxic effects. Both docetaxel (DCT) and gemcitabine (GEM) have shown activity as single agent in advanced NSCLC with a different toxicity profile and a lack of cross-resistance. Materials and methods: From April 2000 to May 2001, 47 consecutive patients were enrolled in a multicenter phase II trial. Main inclusion criteria included untreated patients with histologically confirmed NSCLC, age⩽70 years, stage IIIB/IV, Eastern Cooperative Oncology Group performance status (PS) 0–2, measurable disease, adequate hematologic, cardiac, hepatic and renal func…