Results 51 to 60 of about 2,538 (190)
Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study
Вопросы современной педиатрии, 2020 Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before in ...
Maria G. Ipatova +11 more
doaj +1 more source
Quality and quantity of information in summary basis of decision documents issued by health Canada. [PDF]
PLoS ONE, 2014 Health Canada's Summary Basis of Decision (SBD) documents outline the clinical trial information that was considered in approving a new drug. We examined the ability of SBDs to inform clinician decision-making.
Roojin Habibi, Joel Lexchin
doaj +1 more source
Liver stiffness in patients with Shwachman‐Diamond syndrome
JPGN Reports, EarlyView.Abstract Objective This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman‐Diamond Syndrome (SDS). Methods All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology ...
Sabina Sabharwal +5 more
wiley +1 more source
A Case of Simultaneous Unilateral Anterior and Posterior Stafne Bone Defects
Case Reports in Dentistry, 2015 Stafne bone defects (SBDs) are asymptomatic mandibular lingual bone depressions mainly caused by soft tissue inclusions. The most common form of SBDs is posterior; the anterior variant of SBD is relatively uncommon.
Hisashi Ozaki +5 more
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Density in $SBD$ and approximation of fracture energies [PDF]
Rendiconti Lincei, Matematica e Applicazioni, 2019 We prove three density theorems, in the strong BD topology, for the three subspaces of SBD functions: SBD
openaire +1 more source
Poultry Science: Short-beak and dwarf syndrome (SBDS) is caused by infection with novel goose parvovirus (NGPV), which leads to intestinal dysbiosis, developmental delay, short beak, lameness, and paralysis in ducks and is the cause of skeletal health problems.
Mandi Liu +10 more
doaj +1 more source
ChemistryOpen, EarlyView.Targeting a nucleotide‐sensitive groove on Hsp70 that binds the Bim BH3 helix, we integrate structures, biophysics, and SAR from peptides, fragments, and phenalene‐dicarbonitrile “wedges.” These disrupt the Hsp70–Bim complex with sub‐µM cellular engagement and in vivo activity while sparing Hsp90/mortalin.
Emadeldin M. Kamel +5 more
wiley +1 more source
Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy
JCI Insight, 2020 Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities. Biallelic mutations in SBDS, which encodes a ribosome maturation factor, are found in 90% of SDS cases.
Usua Oyarbide +8 more
doaj +1 more source
Haematologica, 2015 Shwachman-Diamond syndrome is a congenital bone marrow failure disorder characterized by debilitating neutropenia. The disease is associated with loss-of-function mutations in the SBDS gene, implicated in ribosome biogenesis, but the cellular and ...
Noemi A. Zambetti +9 more
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On the Approximation of SBD Functions and Some Applications [PDF]
SIAM Journal on Mathematical Analysis, 2019 Three density theorems for three suitable subspaces of $SBD$ functions, in the strong $BD$ topology, are proven. The spaces are $SBD$, $SBD^p_\infty$, where the absolutely continuous part of the symmetric gradient is in $L^p$, with $p>1$, and $SBD^p$, whose functions are in $SBD^p_\infty$ and the jump set has finite $\mathcal{H}^{n-1}$-measure. This
openaire +3 more sources