23 hasil untuk "Veerle Labarque"
Menampilkan 1–20 · 0,67 detik · RSS
-
Artikel Jurnal
Hemostatic phenotypes and genetic disorders
Abstract This review is focused on genetic regulators of bleeding and thrombosis with a focus on next‐generation sequencing (NGS) technologies for diagnosis and research of patients with inherited disorders. The molecular diagnosis of hemostatic phenotypes relies on the detection of genetic…
-
Artikel Jurnal
Physician decision-making process about withholding/withdrawing life-sustaining treatments in paediatric patients: a systematic review of qualitative evidence
Abstract Background With paediatric patients, deciding whether to withhold/withdraw life-sustaining treatments (LST) at the end of life is difficult and ethically sensitive. Little is understood about how and why physicians decide on withholding/withdrawing LST at the end of life in paediatric…
-
Artikel Jurnal Teks lengkap
Barriers to and Facilitators of Pediatric Palliative Care in Mainland China, Hong Kong, and Taiwan: A Document Analysis
Background: Although progress has been made, substantial barriers exist in the development and implementation of pediatric palliative care (PPC) in mainland China, Hong Kong, and Taiwan. Possible explanations include the idea that cultural taboos erect barriers that short-circuit PPC discussions…
-
Artikel Jurnal
Physicians’ attitudes and experiences about withholding/withdrawing life-sustaining treatments in pediatrics: a systematic review of quantitative evidence
Abstract Background One of the most important and ethically challenging decisions made for children with life-limiting conditions is withholding/withdrawing life-sustaining treatments (LST). As important (co-)decision-makers in this process, physicians are expected to have deeply and broadly…
-
Artikel Jurnal
Subconjunctival Hemorrhage in a Child with the Blue Rubber Bleb Nevus Syndrome on Treatment with Oral Propranolol
Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by venous malformations of mostly skin and gastrointestinal tract. Patients present with multiple venous malformations in various organs including liver, spleen, heart, eye, and central nervous system. Few ophthalmological…
-
Artikel Jurnal
Long-Term Outcome of Single-Session, Ultrasound-Guided, Radiofrequency Ablation for Symptomatic Small, Lower Limb, Venous Malformations
Objectives: To analyze the long-term clinical outcome of percutaneous, ultrasound-guided radiofrequency ablation (RFA) of peripheral low-flow vascular malformations (VM). Materials & Methods: Adolescent patients presenting with symptomatic VMs and referred for percutaneous management using RFA…
-
Artikel Jurnal
Chinese and Belgian pediatricians’ perspectives toward pediatric palliative care: an online survey
Abstract Background As pediatricians play a vital role in pediatric palliative care (PPC), understanding their perspectives toward PPC is important. PPC is established for a long time in Belgium, but has a shorter tradition in China, although it is growing in the last decade. Sampling and comparing…
-
Artikel Jurnal
Case report: Cardiac intimal sarcoma in a young child
Undifferentiated mesenchymal tumors from the intimal layer (intimal sarcomas) are rare within the ventricles and exceptional in children. A rare case of an intimal sarcoma located in the right ventricle in a young child is presented with need for urgent surgical resection due to mechanical flow…
-
Artikel Jurnal
A multiplex allele-specific polymerase chain reaction assay for rapid and affordable detection of APOL1 risk variants
Abstract Non-communicable diseases, such as chronic kidney disease (CKD), are becoming increasingly prevalent worldwide. Genetic factors, including apolipoprotein L1 (APOL1) risk variants (G1 and G2), have been identified as modifiers for the development and progression of CKD, particularly…
-
Artikel Jurnal
APOL1-mediated kidney disease: a narrative review of the lessons learnt from the past 15 years
Abstract Fifteen years have elapsed since the publication of the seminal work establishing the association between risk variants in the Apolipoprotein L1 (APOL1) gene and kidney disease in individuals of African ancestry. During this period, substantial advancements have been achieved in…
-
Artikel Jurnal Teks lengkap
Methylene tetrahydrofolate reductase A1298C polymorphisms influence the adult sequelae of chemotherapy in childhood-leukemia survivors
This retrospective correlation study investigated the putative link between methylene tetrahydrofolate reductase (MTHFR) A1298C mutations and chemotherapy-related brain function changes in adult childhood-leukemia survivors. To this end, we determined the relationship between the particular…
Juga tersedia di: DOAJ
-
Artikel Jurnal
Multigene panel analysis of connective tissue and vascular genes in patients with a bleeding disorder of unknown cause or a cerebrovascular event
Background: Bleeding disorder of unknown cause (BDUC) refers to patients with a significant bleeding phenotype despite normal hemostatic evaluation. Cerebrovascular events (CVEs) are neurologic deficits from intracerebral hemorrhages to hemorrhagic or ischemic strokes. A multigene panel for…
-
Artikel Jurnal
Transcriptome profiling of megakaryocytes and platelets: Application to GP9‐ and IKZF5‐related thrombocytopenia
Abstract Platelets are anucleate cells produced in the bone marrow and derived from large progenitor cells called megakaryocytes (MKs). Platelets receive RNA transcripts from their progenitorial MKs during thrombopoiesis. However, the correspondence between platelet and MK transcriptomes is poorly…
-
Artikel Jurnal Teks lengkap
Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction
Background: Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic…
Juga tersedia di: DOAJ
-
Artikel Jurnal
Clinical utility of panel-based genetic sequencing for von Willebrand disease
Background: von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing analyzes the entire VWF gene and provides concomitant assessment of other genes, allowing differentiation between genocopies. Objectives…
-
Artikel Jurnal
Efficacy and safety of recombinant von Willebrand factor in on-demand treatment of children with von Willebrand disease: up to 4 years of phase 3/3b follow-up
Background: Recombinant von Willebrand factor (rVWF) is approved to treat von Willebrand disease (VWD) in adults and was recently approved in the United States for pediatric on-demand and perioperative treatment. Objectives: To evaluate the efficacy and safety of rVWF, without or with recombinant…