Results 141 to 150 of about 18,795 (214)

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan   +3 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa   +10 more
wiley   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly   +10 more
wiley   +1 more source

Ex vivo model for assessing fetal membrane integrity and therapeutic strategies. [PDF]

open access: yesSci Rep
Moser L   +7 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin   +10 more
wiley   +1 more source

Rehabilitation needs of long COVID patients in British Columbia

open access: yesPM&R, EarlyView.
Abstract Introduction COVID‐19 can result in persistent symptoms and functional impairment that significantly impact daily functioning, highlighting the need for targeted rehabilitation. However, there is a lack of data on what proportion of long COVID patients need rehabilitation and which types are required.
Débora M. Petry Moecke   +6 more
wiley   +1 more source

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