Search results for "DEFICIENCY"
showing 10 items of 1071 documents
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
2006
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…
The clinical benefit of instituting a prospective clinical community-acquired respiratory virus surveillance program in allogeneic hematopoietic stem…
2019
Highlights • Rapid detection methods used as first diagnostic test for CARVs may delayed the start of antiviral therapy in a significant number of influenza and RSV cases. • Syndromic multiplex RT-PCR-based prospective clinical CARV survey in allo-HCT recipients translates into a lower mortality rate as compared to standard clinical practice based on RSV and influenza virus rapid detection test. • We found that donor/recipient HLA mismatch, CARV LRTD and high-risk ISI were also associated with higher mortality.
Lifetime total and beverage specific - alcohol intake and prostate cancer risk: a case-control study
2004
Abstract Background We investigated lifetime alcohol consumption and prostate cancer risk in a case-control study conducted in Buffalo, NY (1998–2001). Methods The study included 88 men, aged 45 to 85 years with incident, histologically-confirmed prostate cancer and 272 controls. We conducted extensive in-person interviews regarding lifetime alcohol consumption and other epidemiologic data. Results Prostate cancer risk was not associated with lifetime intake of total and beverage specific ethanol. In addition we found no association with number of drinks per day (average drinks per day over the lifetime) or drinks per drinking day (average drinks per day on drinking days only over the lifet…
Vaccination with TAT-Antigen Fusion Protein Induces Protective, CD8+ T Cell-Mediated Immunity Against Leishmania Major
2010
In murine leishmaniasis, healing is mediated by IFN-γ-producing CD4 + and CD8 + T cells. Thus, an efficacious vaccine should induce Th1 and Tc1 cells. Dendritic cells (DCs) pulsed with exogenous proteins primarily induce strong CD4-dependent immunity; induction of CD8 responses has proven to be difficult. We evaluated the immunogenicity of fusion proteins comprising the protein transduction domain of HIV-1 TAT and the Leishmania antigen LACK ( Leishmania homolog of receptors for activated C kinase), as TAT-fusion proteins facilitate major histocompatibility complex class I-dependent antigen presentation. In vitro , TAT–LACK-pulsed DCs induced stronger proliferation of Leishmania -specific C…
Anemia prevalence in women of reproductive age in low- and middle-income countries between 2000 and 2018
2021
Anemia is a globally widespread condition in women and is associated with reduced economic productivity and increased mortality worldwide. Here we map annual 2000–2018 geospatial estimates of anemia prevalence in women of reproductive age (15–49 years) across 82 low- and middle-income countries (LMICs), stratify anemia by severity and aggregate results to policy-relevant administrative and national levels. Additionally, we provide subnational disparity analyses to provide a comprehensive overview of anemia prevalence inequalities within these countries and predict progress toward the World Health Organization’s Global Nutrition Target (WHO GNT) to reduce anemia by half by 2030. Our results …
Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, a…
2008
Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) in 2004. Objective To ensure that this consensus remains current. Methods In collaboration with the Canadian Network of Rare Blood Disorder Organizations, we held the second Canadian Consensus discussion with our international colleagues in Toronto, Ontario, on February 3, 2006, and reviewed its content at the Fifth C1 Inhibitor Deficiency Workshop in Budapest on June 2, 2007. Papers were presented by international investigators, and this consensus algorithm approach resulted. Results This consensus algorithm …
Pulmonary aspergilloma in a patient with AIDS.
1995
Aspergillus infections are rare in the course of AIDS. They mostly occur as invasive destructive disease in patients with severe CD4 cell depletion. An unusual case of a homosexual AIDS patient who developed a pulmonary aspergilloma is presented.
Evolución de la declaración de la tuberculosis en un área sanitaria de la Comunidad Valenciana desde 1987 hasta 1999
2001
Objetivos La infradeclaracion de la tuberculosis (TBC) es un hecho frecuente a escala mundial que ha sido escasa-mente estudiado en nuestro pais. El objetivo de nuestro es-tudio fue conocer el estado de la declaracion de los casos de TBC en nuestra area sanitaria Material y metodo Desde 1987 a 1999 se estudio de for-ma directa la incidencia y el estado de declaracion de los casos de TBC en nuestra area (censo: 106.632 habitantes). Los casos se obtuvieron desde el registro de EDO, anatomia patologica y bacteriologia, con posterior revision de la historia clinica Resultados Se diagnosticaron 410 casos de TBC, de los cuales 378 eran recientes del area (incidencia media anual: 27 por 100.000 ha…