Professionals' preferences in prenatal counseling at the limits of viability: a nationwide qualitative Dutch study

Item does not contain fulltextPrenatal counseling practices at the limits of viability do vary, and constructing a counseling framework based on guidelines, professional and parental preferences, might achieve more homogeneity. We aimed to gain insight into professionals' preferences on three domains of counseling, particularly content, organization, and decision making and their influencing factors. A qualitative, nationwide in-depth exploration among Dutch perinatal professionals by semi-structured interviews in focus groups was performed. Regarding content of prenatal counseling, preparing parents on the short-term situation (delivery room care) and revealing their perspectives on "quality of life" were considered important. Parents should be informed on the kind of decision, on the difficulty of individual outcome predictions, on survival and mortality figures, short- and long-term morbidity, and the burden of hospitalization. For organization, the making of and compliance with agreements between professionals may promote joint counseling by neonatologists and obstetricians. Supportive materials were considered useful but only when up-to-date, in addition to the discussion and with opportunity for personalization. Regarding decision making, it is not always clear to parents that a prenatal decision needs to be made and they can participate, influencing factors could be, e.g., unclear language, directive counseling, overload of information, and an immediate delivery. There is limited familiarity with shared decision making although it is the preferred model. CONCLUSION: This study gained insight into preferred content, organization, and decision making of prenatal counseling at the limits of viability and their influencing factors from a professionals' perspective. What is Known: * Heterogeneity in prenatal counseling at the limits of viability exists * Differences between preferred counseling and actual practice also exists What is New: * Insight into preferred content, organization, and decision making of prenatal periviability counseling and its influencing factors from a professionals' perspective. Results should be taken into account when performing counseling. * Particularly the understanding of true shared decision making needs to be improved. Furthermore, implementation of shared decision making in daily practice needs more attention

Prognostic significance of DNA methylation profiles at MRI enhancing tumor recurrence: a report from the EORTC 26091 TAVAREC Trial

Purpose:Despite recent advances in the molecular characterization of gliomas, it remains unclear which patients benefit most from which second-line treatments. The TAVAREC trial was a randomized, open-label phase II trial assessing the benefit of the addition of the angiogenesis inhibitor bevacizumab to treatment with temozolomide in patients with a first enhancing recurrence of World Health Organization grade 2 or 3 glioma without 1p/19q codeletion. We evaluated the prognostic significance of genome-wide DNA methylation profiles and copy-number variations on the TAVAREC trial samples.Experimental Design:Isocitrate dehydrogenase (IDH) mutation status was determined via Sanger sequencing and IHC. DNA methylation analysis was performed using the MethylationEPIC BeadChip (Illumina) from which 1p/19q codeletion, MGMT promoter methylation (MGMT-STP27), and homozygous deletion of CDKN2A/B were determined. DNA methylation classes were determined according to classifiers developed in Heidelberg and The Cancer Genome Atlas (TCGA; “Heidelberg” and “TCGA” classifier respectively).Results:DNA methylation profiles of 122 samples were successfully determined. As expected, most samples were IDH-mutant (89/122) and MGMT promotor methylated (89/122). Methylation classes were prognostic for time to progression. However, Heidelberg methylation classes determined at time of diagnosis were no longer prognostic following enhancing recurrence of the tumor. In contrast, TCGA methylation classes of primary samples remained prognostic also following enhancing recurrence. Homozygous deletions in CDKN2A/B were found in 10 of 87 IDH-mutated samples and were prognostically unfavorable at recurrence.Conclusions:DNA methylome Heidelberg classification at time of diagnosis is no longer of prognostic value at the time of enhancing recurrence. CDKN2A/B deletion status was predictive of survival from progression of IDH-mutated tumors.Neurolog

Measuring situation awareness and team effectiveness in pediatric acute care by using the situation global assessment technique

Contains fulltext : 204029.pdf (publisher's version ) (Open Access

Hypofysehyperplasie bij primaire hypothyreodïe

Contains fulltext : 26026___.PDF (publisher's version ) (Open Access

Perinatal practice in extreme premature delivery: variation in Dutch physicians' preferences despite guideline

Contains fulltext : 171156.pdf (publisher's version ) (Open Access)Decisions at the limits of viability about initiating care are challenging. We aimed to investigate physicians' preferences on treatment decisions, against the background of the 2010 Dutch guideline offering active care from 24(+0/7) weeks of gestational age (GA). Obstetricians' and neonatologists' opinions were compared. An online survey was conducted amongst all perinatal professionals (n = 205) of the 10 Dutch level III perinatal care centers. Response rate was 60 % (n = 122). Comfort care was mostly recommended below 24(+0/7) weeks and intensive care over 26(+0/7) weeks. The professional views varied most at 24 and 25 weeks, with intensive care recommended but comfort care at parental request optional being the median. There was a wide range in perceived lowest limits of GA for interventions as a caesarian section and a neonatologist present at birth. Obstetricians and neonatologists disagreed on the lowest limit providing chest compressions and administering epinephrine for resuscitation. The main factors restricting active treatment were presence of congenital disorders, "small for gestational age" fetus, and incomplete course of corticosteroids. CONCLUSION: There was a wide variety in individually preferred treatment decisions, especially when aspects were not covered in the Dutch guideline on perinatal practice in extreme prematurity. Furthermore, obstetricians and neonatologists did not always agree. WHAT IS KNOWN: * Cross-cultural differences exists in the preferred treatment at the limits of viability * In the Netherlands since 2010, intensive care can be offered starting at 24 (+0/7) weeks gestation What is new: * There was a wide variety in preferred treatment decisions at the limits of viability especially when aspects were not covered in the Dutch national guideline on perinatal practice in extreme prematurity

Ureterocolic fistula detected by mercaptoacetyltriglycine (MAG-3) diuretic renography including single photon emission CT and low-dose CT (SPECT-CT)

Item does not contain fulltextWe describe the case of a 60-year-old man with a ureterocolic fistula following laparoscopic sigmoid resection. The fistulous tract between the left ureter and sigmoid colon was detected by mercaptoacetyltriglycine diuretic renography including single photon emission CT with low-dose CT. Ureteroneocystostomy was successfully performed

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review

Noonan syndrome spectrum disorders are a group of phenotypically related conditions, resembling Noonan syndrome, caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. Lymphatic dysplasia with a clinical lymphatic abnormality is one of the major features. We performed a systematic review to get more insight in (1) the prevalence of clinically lymphatic abnormalities in patients with a genetically proven Noonan syndrome spectrum disorder, (2) if a genotype-lymphatic phenotype relation can be found and describe the clinical presentation and course of the lymphatic abnormality. Most studies report patients with Noonan syndrome. Prenatally, the prevalence of increased nuchal translucency differs from 7% in patients with pathogenic PTPN11 variants to 38% in patients with pathogenic RIT1 variants, and the prevalence of pleural effusions differed from 7% in patients with pathogenic SOS1 to 29% in patients with pathogenic RIT1 variants. Postnatally, the prevalence of lymphedema differs from 16% in patients with pathogenic PTPN11 variants to 44% in patients with pathogenic SOS1 variants, and the prevalence of acquired chylothorax is 4% in patients with pathogenic RIT1 variants. Lymphatic abnormalities do occur in patients with cardiofaciocutaneous syndrome and Costello syndrome. In conclusion, Noonan syndrome spectrum disorders, Noonan syndrome in particular, are associated with lymphatic abnormalities. Combining the available published literature about genetically proven Noonan syndrome spectrum disorders, it appears likely that the lifetime prevalence of these abnormalities in Noonan syndrome is higher than the 20% that were generally accepted so far. This is increasingly important, because the activation of the RAS/MAPK pathway can be inhibited by RAS/MAPK inhibitors, and clinically severe lymphatic abnormalities may improve

Inadvertent intravenous polyethylene glycol 4000 infusion in a child

Contains fulltext : 108304.pdf (publisher's version ) (Closed access

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

Contains fulltext : 182936.pdf (publisher's version ) (Closed access)Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C>G, p.Pro1045Arg. Ten family members with NS are included with genetically confirmed mutation and clinical evaluation. The phenotype shows a broad spectrum from only few suggestive features for NS in the older generation to typical features in the youngest generation. We report on a novel pathogenic mutation in the SOS1 gene and a large clinical spectrum in a NS family with ten genetically confirmed affected individuals