Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.asjsur.2023.08.026 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.
Ann Med
December 2025
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.
Efficacy and safety of low-dose TBI combined MAC regimen for HSCT in high-risk AML patients with active disease.
Ann Med
December 2025
Department of Hematology, Affiliated Hangzhou First People's Hospital, Westlake University, School of Medicine, Hangzhou, China.
Background: The management of high-risk acute myeloid leukaemia (AML) remains challenging, highlighting the need for innovative conditioning strategies beyond current regimens.
Methods: In the present single-arm study, a FACT regimen comprised of low-dose total body irradiation (TBI) with fludarabine, cytarabine and cyclophosphamide was employed to treat cytogenetically high-risk AML patients exhibiting pre-transplant active disease. This clinical trial is registered in the Chinese Clinical Trial Registry with the registration number ChiCTR2000035111.
Primary hepatic epithelioid hemangioendothelioma: a case report.
J Int Med Res
December 2024
Department of Hepatobiliary Surgery, Affiliated Hangzhou First People's Hospital, Westlake University, School of Medicine, Hangzhou, China.
Epithelioid hemangioendothelioma is a low-grade malignant tumor of vascular origin. The rarity of hepatic epithelioid hemangioendothelioma (HEHE) makes the diagnosis and treatment of this entity challenging. We report a case of a 69-year-old female patient who suffered from HEHE and complained of abdominal distension pain with dizziness and appetite loss for more than half a month.
View Article and Find Full Text PDF<b>Background and Objective:</b> Turmeric, strawberries and broccoli are popular in the community for their beneficial effects in improving lipid profile, but poor bioavailability and absorption of their phytochemical compounds might reduce their effects while given separately. Therefore, their combination might provide a synergistic enhancement of their property as hypolipidemic agents. This study aims to examine the effects of turmeric, strawberry and broccoli in improving lipid profile in adult patients with hypercholesterolemia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!