Setting the international research agenda for sarcomas with patients and carers: results of phase II of the Sarcoma Patient Advocacy Global Network (SPAGN) priority setting partnership.

Background: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP).

Sunitinib for the treatment of metastatic gastrointestinal stromal tumors: the effect of TDM-guided dose optimization on clinical outcomes.

Background: Sunitinib is an oral anticancer drug approved for the treatment of among others gastrointestinal stromal tumor (GIST). Previous analyses demonstrated an exposure-response relationship at the standard dose, and minimum target levels of drug exposure have been defined above which better treatment outcomes are observed. Therapeutic drug monitoring (TDM) could be used as a tool to optimize the individual dose, aiming at sunitinib trough concentrations ≥37.

Patient-reported outcomes in randomized clinical trials of systemic therapy for advanced soft tissue sarcomas in adults: A systematic review.

Background: This systematic review evaluates reporting of patient-reported outcomes (PROs) within randomized clinical trials (RCTs) for advanced soft tissue sarcoma (STS) patients.

Methods: A systematic literature search from January 2000 - August 2022 was conducted for phase II/III RCTs evaluating systemic treatments in adult patients with advanced STS. Quality of PRO reporting was assessed using the CONSORT PRO extension.

Referral patterns of GIST patients: data from a nationwide study.

Background: This study compares the characteristics, referral and treatment patterns and overall survival (OS) of gastrointestinal stromal tumor (GIST) patients treated in reference and non-reference centers in the Netherlands.

Patients And Methods: This retrospective cohort study on patients diagnosed between 2016 and 2019, utilises data from the Netherlands Cancer Registry and the Dutch Nationwide Pathology Database. Patients were categorized into two groups: patients diagnosed in or referred to reference centers and patients diagnosed in non-reference centers without referral.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of coactivated enhancers and their target genes, known as superenhancers, are important in determining cell identity but have been largely unexplored in development.

Individualized Dosing Patterns in the Treatment of Older Patients with Gastrointestinal Stromal Tumors: Results of a Registry-Based Observational National Cohort Study Including 871 Patients.

Background: While the effectiveness of tyrosine kinase inhibitors (TKIs) seems similar in older patients with gastrointestinal stromal tumors (GIST) compared with younger patients, toxicities in older patients treated with TKIs more often lead to discontinuation of treatment.

Objective: To better understand the age-related pharmacology and pharmacodynamic differences in patients with GIST treated with TKIs, the primary aim of this study was to evaluate TKI dosing patterns in older patients with GIST, while the secondary aims were to evaluate differences in imatinib trough plasma concentrations between age groups and to compare the overall survival (OS) in patients with and without dose reductions in all treatment lines in a palliative setting.

Methods: Patients (18 years of age or older) with histologically proven GIST diagnosed between January 2009 and June 2021 and treated with one or more lines of TKIs were selected from the Dutch GIST Registry (DGR) database.

Comprehensive Genomic Profiling and Therapeutic Implications for Patients with Advanced Cancers: The Experience of an Academic Hospital.

Next-generation sequencing (NGS) can be used to detect tumor-specific genomic alterations. This retrospective single-center study aims to assess the application of an extensive NGS panel to identify actionable alterations and initiate matched targeted treatment for patients with advanced cancer. We analyzed genomic alterations in solid tumor biopsies from 464 patients with advanced cancer with the Foundation Medicine assay (FoundationOneCDx).

Pregnancy termination at a viable stage in daily clinical practice: A nationwide mortality follow-back study in Flanders, Belgium.

Objective: Congenital malformations are frequently diagnosed prenatally even at a viable stage. No adequate registration of incidence and characteristics of late termination of pregnancy (TOP) or abortion for medical reasons exists in Flanders.

Methods: Nationwide mortality follow-back survey sent to physicians signing death certificates of all stillbirths for 22 weeks gestation onward (September 2016-December 2017) in Flanders, Belgium.

Local recurrence in primary localised resected gastrointestinal stromal tumours: A registry observational national cohort study including 912 patients.

Background And Objectives: Previous literature showed a high risk of recurrence following surgical treatment in patients with gastrointestinal stromal tumours (GISTs). However, little is known about the patient- and treatment characteristics of local recurrences (LRs) in GIST patients. Therefore, this study aimed to better understand patterns of LR in surgically treated localised GIST and to describe treatment options based on our Dutch GIST Registry (DGR).

Components of Perinatal Palliative Care: An Integrative Review.

When a severe diagnosis is made before or after birth, perinatal palliative care (PPC) can be provided to support the infant, parents and involved healthcare providers. An integrative and systematic overview of effectiveness and working components of existing PPC programs was needed. An integrative search was conducted in MEDLINE, Embase, CENTRAL, CINAHL, PsycInfo and Web of Science.

Operative hysteroscopy in the minimally invasive management of interstitial pregnancy and interstitially retained products of conception: A case report and systematic literature review.

Objective: An interstitial pregnancy is a rare form of ectopic pregnancy. Diagnosis and management can be challenging. Treatment often involves invasive uterine surgery.

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Objective: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.

Methods: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography.

Charting Extracellular Transcriptomes in The Human Biofluid RNA Atlas.

Extracellular RNAs present in biofluids have emerged as potential biomarkers for disease. Where most studies focus on blood-derived fluids, other biofluids may be more informative. We present an atlas of messenger, circular, and small RNA transcriptomes of a comprehensive collection of 20 human biofluids.

Healthcare professionals' attitudes towards termination of pregnancy at viable stage.

Introduction: Upon prenatal diagnosis of congenital malformations, termination of pregnancy (TOP) may be an option, sometimes at a gestational age when the fetus is already viable (late TOP). We aimed to study attitudes towards late TOP of all tertiary healthcare professionals involved in late TOP practice.

Material And Methods: A mail survey was conducted among all physicians and paramedical professionals involved in late TOP decision-making in all eight centers with a Neonatal Intensive Care Unit in Flanders, Belgium (N = 117).

Risk factors for neonatal brachial plexus palsy: a systematic review and meta-analysis.

Aim: To provide a comprehensive update on the most prevalent, significant risk factors for neonatal brachial plexus palsy (NBPP).

Method: Cochrane CENTRAL, MEDLINE, Web of Science, Embase, and ClinicalTrials.gov were searched for relevant publications up to March 2019.

Sero-epidemiological status and risk factors of toxoplasmosis in pregnant women in Northern Vietnam.

Background: In Vietnam, few studies have determined the epidemiological status of toxoplasmosis in pregnant women and no routine prenatal screening is in place. This study was conducted to evaluate the seroprevalence of this zoonotic parasitic infection in pregnant women in Northern Vietnam and to assess the association with awareness, risk factors and congenital toxoplasmosis.

Methods: Approximately 800 pregnant women were included in the study from two hospitals, one in Hanoi and one in Thai Binh province, which is known to have a dense cat population.

Neonatologists and neonatal nurses have positive attitudes towards perinatal end-of-life decisions, a nationwide survey.

Aim: Perinatal death is often preceded by an end-of-life decision (ELD). Disparate hospital policies, complex legal frameworks and ethically difficult cases make attitudes important. This study investigated attitudes of neonatologists and nurses towards perinatal ELDs.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families.

A post-mortem population survey on foetal-infantile end-of-life decisions: a research protocol.

Background: The death of a child before or shortly after birth is frequently preceded by an end-of-life decision (ELD). Population-based studies of incidence and characteristics of ELDs in neonates and infants are rare, and those in the foetal-infantile period (> 22 weeks of gestation - 1 year) including both neonates and stillborns, are non-existent. However, important information is missed when decisions made before birth are overlooked.

Quality of life in oropharyngeal cancer: a structured review of the literature.

Purpose: To summarize the literature on quality of life (QoL) in patients with oropharyngeal squamous cell carcinoma (OPSCC).

Methods: The PubMed database was searched using the inclusion criteria "oropharyngeal cancer," "quality of life," "human," and "English," the exclusion criterion "recurrent," and publication date between January 1, 2005 and October 26, 2015.

Results: The search yielded 98 articles of which 17 fulfilled all selection criteria.

Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.

Objective: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD.

Method: Single center retrospective study in patients with severe CHD diagnosed prenatally or postnatally (2006 to 2014).

Results: A total of 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types.