Results 61 to 70 of about 13,996 (241)

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source

Intrinsic Photoactive Star ZnPc–Poly(glutamate) Nanoplatforms for Multimodal Glioblastoma Therapy and Brain‐Targeted Delivery

Advanced Functional Materials, EarlyView.
An intrinsic photoactive star‐shaped zinc phtalocyanine‐poly(L‐glutamic acid) (ZnPc‐PGA) nanoplatform for multimodal glioblastoma (GBM) therapy and brain‐targeted elivery. A ZnPc‐PGA‐based multifunctional theranostic nanocarrier platform enables image‐guided, multimodal GBM therapy. ZnPc‐PGA nanocarriers support the integration of fluorescence imaging,
Amina Benaicha‐Fernández, Teodora Ranđelović, Ana Armiñán, Víctor Sebastián, Manuel Fuentes, Cristián Huck‐Iriart, Esther Masiá, Paula Carrascosa‐Marco, Pablo Juanes‐Velasco, Snežana Đorđević, Clara Bayona, Ignacio Ochoa, Maria Medel, Inmaculada Conejos‐Sánchez, María J. Vicent   +14 more
wiley   +1 more source

Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study

Annals of Saudi Medicine, 2008
Background and Objectives: There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited. The objective of this cross-sectional study was to explore the role of consanguinity in genetic
El Mouzan Mohammad, Al Salloum Abdullah, Al Herbish Abdullah, Qurachi Mansour, Al Omar Ahmad   +4 more
doaj  

Consanguinity and Apnea of Prematurity [PDF]

American Journal of Epidemiology, 2003
Consanguinity, marriage between relatives, has been associated with perinatal mortality and morbidity. Apnea of prematurity is defined as the cessation of breathing for longer than 20 seconds or that of any duration if accompanied by cyanosis and sinus bradycardia, for infants born before 37 weeks of gestation. The objective of the study was to examine
Hala, Tamim, Mustafa, Khogali, Hind, Beydoun, Imad, Melki, Khalid, Yunis   +4 more
openaire   +2 more sources

Encoded Cell‐Material Interactions to Reroute Cytokine Signaling for Regenerative Medicine

Advanced Healthcare Materials, EarlyView.
We present native MATRIX (Material Activated To Regulate Inducible gene eXpression), a co‐engineered material‐cell platform. Surfaces functionalized with antibodies for endogenous soluble ligands (e.g., IL‐1β or IL‐6) capture and immobilize ligands for presentation to a cognate, engineered synthetic Notch receptor, releasing a transcription factor (TF)
Zachary M. Eidman, Jhanvi Sharma, Joanne C. Lee, Nicholas F. Schulze, Hannah J. Brien, Kevin C. Corn, Marjan Rafat, Jonathan M. Brunger   +7 more
wiley   +1 more source

Histidinaemia in a consanguineous marriage [PDF]

Journal of Medical Genetics, 1974
Support to the autosomal recessive inheritance for histidinaemia is given by the finding of an affected product from a first-cousin marriage. The histidine loading test done on the parents confirms previous reports that female heterozygous metabolize the amino acid at a slower rate than male heterozygous.
I, Rostenberg, J, Guïzar, I, Alejandre, S, Benïtez, S, Armendares   +4 more
openaire   +2 more sources

Kelvin Probe Force Microscopy in Bionanotechnology: Current Advances and Future Perspectives

Advanced Materials, EarlyView.
Kelvin probe force microscopy (KPFM) enables the nanoscale mapping of electrostatic surface potentials. While widely applied in materials science, its use in biological systems remains emerging. This review presents recent advances in KPFM applied to biological samples and provides a critical perspective on current limitations and future directions for
Ehsan Rahimi, Mario Palacios‐Corella, Arjan Mol, Salvador Pané, Josep Puigmartí‐Luis   +4 more
wiley   +1 more source

Consanguinity rates predict long runs of homozygosity in Jewish populations

Human Heredity, 2017
Objectives: Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations.
Jonathan T. L. Kang, Amy Goldberg, Michael D. Edge, D. Behar, N. Rosenberg   +4 more
semanticscholar   +1 more source

Boolean Logic‐Based Control Over Recombinant Protein Biomaterial Degradability and Therapeutic Delivery

Advanced Materials, EarlyView.
Fully recombinant protein‐based biomaterials execute complex Boolean logic for user‐programmable material degradation and concomitant therapeutic cargo release. Biologics, such as growth factors, can be incorporated within the crosslinkers as “drugamers”, while encapsulated cells can be released according to nested YES/OR/AND‐type logical operations ...
Murial L. Ross, Ryan Gharios, Shivani Kottantharayil, Cole A. DeForest   +3 more
wiley   +1 more source

Tetra-Phocomelia: The Seal Limb Deformity - A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3 P2 L2 A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits.
Sunil Kumar Samal, Setu Rathod, Seetesh Ghose   +2 more
doaj   +1 more source