Search results for "bp"
showing 10 items of 672 documents
Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target
2018
Blastic Plasmacytoid Dendritic Cell Neoplasm is a rare and aggressive hematological malignancy currently lacking an effective therapy. To possibly identify genetic alterations useful for a new treatment design, we analyzed by whole-exome sequencing fourteen Blastic Plasmacytoid Dendritic Cell Neoplasm patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program as the most significantly undermined (P<.0001). In particular, twenty-five epigenetic-modifiers were found mutated (e.g., ASXL1, TET2, SUZ12, ARID1A, PHF2, CHD8); ASXL1 was the most frequently affected (28.6% of cases). To evaluate the impact of …
Impact Of The Pretreatment Characteristics As Well As Cyto- and Molecular-Genetic Profile On Outcome After Relapse In Acute Myeloid Leukemia
2013
Abstract Background Cyto- and molecular-genetic abnormalities evaluated at initial diagnosis are the most powerful prognostic and in part also predictive markers in acute myeloid leukemia (AML) with regard to achievement of complete remission (CR) and survival. Nonetheless, after relapse the prognostic impact of clinical characteristics and genetic abnormalities assessed at initial diagnosis with respect to achievement of subsequent CR and survival are less clear. Aims To evaluate the probability of CR achievement and survival in relapsed AML patients in correlation to clinical characteristics and genetic abnormalities assessed at initial diagnosis as well as treatment strategy. Methods The…
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
2010
Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…
Influence of Guideline Operationalization on Youth Activity Prevalence in the International Children's Accelerometry Database
2022
Introduction: The United Kingdom and World Health Organization recently changed their youth physical activity (PA) guidelines from 60 minutes of moderate-vigorous PA (MVPA) every day, to an average of 60 minutes of MVPA per day, over a week. The changes are based on expert opinion due to insufficient evidence comparing health outcomes associated with different guideline definitions. Further, inconsistent guideline operationalization impairs understanding of physical inactivity prevalence. This study used the International Children’s Accelerometry Database to compare approaches to calculating PA compliance among youth and associations with health indicators. Methods: Cross-sectional accelero…
Plasma granulysin levels and cellular interferon-gamma production correlate with curative host responses in tuberculosis, while plasma interferon-gam…
2007
Contains fulltext : 52707.pdf (Publisher’s version ) (Closed access) Granulysin is a recently identified cytolytic protein which is expressed by human cytotoxic T-lymphocytes and natural killer (NK)-cells, and has broad antimicrobial and tumoricidal activity. Circulating granulysin levels are associated with T- and NK-cell activity, and may thus reflect protection-associated cellular immune responses. In a case-control study in Indonesia, a highly tuberculosis (TB)-endemic country, we therefore determined plasma granulysin levels in adults with active pulmonary TB before, during, and after TB treatment, both in mild/moderate-TB and advanced-TB patients, and compared these to healthy neighbo…
Eating at restaurants, at work or at home. Is there a difference? A study among adults of 11 European countries in the context of the HECTOR* project
2016
BACKGROUND/OBJECTIVES: To compare macronutrient intakes out of home-by location-to those at home and to investigate differences in total daily intakes between individuals consuming more than half of their daily energy out of home and those eating only at home.SUBJECTS/METHODS: Data collected through 24-h recalls or diaries among 23766 European adults. Participants were grouped as 'non-substantial', 'intermediate' and 'very substantial out-of-home' eaters based on energy intake out of home. Mean macronutrient intakes were estimated at home and out of home (overall, at restaurants, at work). Study/cohort-specific mean differences in total intakes between the 'very substantial out-of-home' and…
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
2020
Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
Validity of ambulatory blood pressure monitoring in daily primary healthcare practice in France
2018
IF 1.194; International audience; ObjectiveThe objective of the study was to assess 24-h ambulatory blood pressure monitoring (ABPM) validity in daily primary healthcare practice in France.Patients and methodsAn observational, longitudinal, prospective, multicenter study was performed in the Burgundy region, France. Participants were patients who had been prescribed ABPM by their general practitioner (GP), whatever its indication. ABPM was performed by employees of the healthcare providers group, which is publicly funded. The validity of ABPM was established according to the European Society of Cardiology (ESC) criteria. GPs interpretation of the ABPM results was collected and compared with…
Physician attitudes to blood pressure control
2011
OBJECTIVES: The Supporting Hypertension Awareness and Research Europe-wide (SHARE) physician survey aimed to qualify the key challenges that physicians face when trying to get patients to blood pressure (BP) goal. METHODS: The SHARE survey was open to physicians involved in the treatment of patients with hypertension, was anonymous, and was designed to take 15 min to complete. The survey included 45 questions covering physicians' demographic information, views on the BP targets recommended by the European Society of Hypertension-European Society of Cardiology guidelines, opinions on acceptable levels of BP control, and perceptions about the challenges associated with getting patients to BP …