Results 71 to 80 of about 3,275,705 (300)

The problem of rare (orphan) diseases in the Russian Federation: Medical and normative legal aspects of its solution

open access: yesТерапевтический архив, 2014
The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our ...
P V Novikov
doaj  

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine   +21 more
wiley   +1 more source

On the relationship between epistasis and genetic variance heterogeneity

open access: yes, 2017
Epistasis and genetic variance heterogeneity are two non-additive genetic inheritance patterns that are often, but not always, related. Here we use theoretical examples and empirical results from earlier analyses of experimental data to illustrate the ...
Forsberg, Simon K. G.,   +3 more
core   +1 more source

Genetic heterogeneity in duodenal ulceration [PDF]

open access: yes, 2007
Background: Duodenal ulcer (DU) is a multifactorial disorder with different etiological and pathogenetic mechanisms. Evidence for the role of genetic factors such as familial aggregation, twin studies, ABO blood groups, ABH nonsecretor status and ...
Vidyasagar, A., Venkateshwari, A.
core   +1 more source

Dystonic hyperkinesias in children of early childhood

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Dystonic hyperkinesias in children of early childhood may beinvolved in the structure of many syndromes that have differentetiological factors, prognosis, and treatment.
M. Yu. Bobylova   +7 more
doaj   +1 more source

Impact of Initial Treatment Setting on Survival in Relapsed Pediatric and AYA Bone Sarcomas: A Secondary Analysis of a Prospective Clinical Trial

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Outcomes in relapsed or refractory pediatric and AYA bone sarcomas remain poor, and the impact of early referral to specialized sarcoma centers on survival is unclear. Early centralization of care may improve local and systemic treatment quality, but evidence in this population is limited.
Justyna Antoniuk‐Majchrzak   +9 more
wiley   +1 more source

El tumor de Wilms. Un paradigma de heterogeneidad genética: a paradigm of genetic heterogeneity Wilm's toumor

open access: yesRevista Habanera de Ciencias Médicas, 2011
El Tumor de Wilms constituye el más frecuente de los cánceres renales pediátricos, aparece antes de los 5 años de edad y con igual frecuencia en ambos sexos.
Rolando A Hernández Fernández
doaj  

Neurodegeneration with brain iron accumulation

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia ...
G. E. Rudenskaya, E. Yu. Zakharova
doaj   +1 more source

Genetic heterogeneity in multiple myeloma [PDF]

open access: yesLeukemia, 2004
In the past decade, many progresses have been made in our knowledge of the genetics of multiple myeloma. The use of molecular cytogenetic techniques has led to the identification of several recurrent (cyto)genetic abnormalities, representing either prognostic markers, or novel therapeutic targets.
F, Magrangeas   +4 more
openaire   +2 more sources

Effect of DFPP on Ferroptosis in Peripheral Blood CD14+ Monocytes of Hyperlipidemic Patients Involving the ACSL4/LPCAT3/ALOX5 Pathway

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng   +3 more
wiley   +1 more source

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