Enhancing safety feedback to the design of small, unmanned aircraft by joint assessment of impact area and human fatality.

Advantages of commercial UAS-based services come with the disadvantage of posing third party risk (TPR) to overflown population on the ground. Especially challenging is that the imposed level of ground TPR tends to increase linearly with the density of potential customers of UAS services. This challenge asks for the development of complementary directions in reducing ground TPR.

Homocysteine and methylmalonic acid in Phenylketonuria patients.

Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3).

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous variant NM_006441.3():c.

The effect of diet-induced weight loss on circulating homocysteine levels in people with obesity and type 2 diabetes.

Background/aims: Having type 2 diabetes (T2D) in combination with being overweight results in an additional increase in cardiovascular disease (CVD) risk. In addition, T2D and obesity are associated with increased levels of total homocysteine (tHcy), possibly contributing to the CVD risk. Weight loss dieting has positive effects on several CVD risk factors, but whether it affects tHcy remains unclear.

Visualization and clinical relevance of the endolymphatic duct and sac in Ménière's disease.

Background: Ménière's disease (MD) is a chronic inner ear disorder with a multifactorial etiology. Decreased visualization of the endolymphatic duct (ED) and sac (ES) is thought to be associated with MD, although controversy exists about whether this finding is specific to MD. Recent literature has revealed that two distinct ES pathologies, developmental hypoplasia and epithelial degeneration, can be distinguished in MD using the angular trajectory of the vestibular aqueduct (ATVA) or ED-ES system as a radiographic surrogate marker.

Goal Attainment Scale in tinnitus (GAS-T): treatment goal priorities by chronic tinnitus patients in a real-world setting.

Purpose: Standard treatment for tinnitus is cognitive behavioral therapy, although level of evidence of effectiveness is low. There is need for a Goal Attainment Scale to evaluate treatment effects based on patient satisfaction. Preliminary work in a clinical sample has identified six common personal treatment goals.

[Laser treatment of the tonsils in adults on an outpatient basis].

Tonsil complaints in adults are common. If conservative treatment fails, there is an indication for surgical removal of the tonsils. The current standard procedure, tonsillectomy under anaesthesia, is invasive, painful, and relatively often leads to complications including postoperative bleeding.

Quality of life after intratympanic steroid injection for Ménière's disease.

Objective: This study explores how treatment with intratympanic steroid injection affects quality of life, as well as several subjective complaints in patients with Ménière's disease.

Methods: Patients filled in the Ménière's Disease Outcome Questionnaire (MDOQ) and answered questions about subjective complaints. Scores before and after treatment were compared using paired tests.

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

The integration of metabolomics data with sequencing data is a key step towards improving the diagnostic process for finding the disease-causing genetic variant(s) in patients suspected of having an inborn error of metabolism (IEM). The measured metabolite levels could provide additional phenotypical evidence to elucidate the degree of pathogenicity for variants found in genes associated with metabolic processes. We present a computational approach, called Reafect, that calculates for each reaction in a metabolic pathway a score indicating whether that reaction is deficient or not.

Time to Functional Recovery After Laser Tonsillotomy Performed Under Local Anesthesia vs Conventional Tonsillectomy With General Anesthesia Among Adults: A Randomized Clinical Trial.

Importance: Carbon dioxide laser tonsillotomy performed under local anesthesia may be an effective and less invasive alternative than dissection tonsillectomy for treatment of tonsil-related afflictions.

Objective: To compare functional recovery and symptom relief among adults undergoing tonsillectomy or tonsillotomy.

Design, Setting, And Participants: This randomized clinical trial was conducted at 5 secondary and tertiary hospitals in the Netherlands from January 2018 to December 2019.

Hydropic Ear Disease: Correlation Between Audiovestibular Symptoms, Endolymphatic Hydrops and Blood-Labyrinth Barrier Impairment.

To investigate the correlation between clinical features and MRI-confirmed endolymphatic hydrops (EH) and blood-labyrinth barrier (BLB) impairment. Retrospective cross-sectional study. Vertigo referral center (Haga Teaching Hospital, The Hague, the Netherlands).

Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.

One-carbon metabolism (1C metabolism) is of paramount importance for cell metabolism and mammalian development. It is involved in the synthesis or modification of a wide variety of compounds such as proteins, lipids, purines, nucleic acids and neurotransmitters. We describe here the evolution of expression of genes related to 1C metabolism during liver and brain ontogeny in mouse.

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the lowest number of false-positives. In this case report, we describe four unrelated cases with a false-positive NBS result for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Effectiveness of endolymphatic duct blockage versus endolymphatic sac decompression in patients with intractable Ménière's disease: study protocol for a double-blinded, randomised controlled trial.

Introduction: Outcomes of surgery for Ménière's disease (MD) remain discordant. Recently, a new surgical procedure in which the endolymphatic duct is clipped was proposed. To date, only one prospective trial assessing this technique was published, yielding promising results.

[Adenotonsillectomy with or without intubation? Safety of the adenotonsillectomy without endotracheal tube in children].

Objective: To determine the safety of the non-intubated and intubated adenotonsillectomy by the Sluder method in children DESIGN: Retrospective database study METHOD: We compared the data of adenotonsillectomy by the Sluder method in children until thirteen years of two teaching hospitals from 2014 until 2017. In the Amphia Hospital the procedure was performed without endotracheal tube placement and without perioperative opioids, in the Haga Hospital the patients were intubated and received perioperative opioids. Primary outcome was reoperation for postoperative haemorrhage.

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Untargeted metabolomics is an emerging technology in the laboratory diagnosis of inborn errors of metabolism (IEM). Analysis of a large number of reference samples is crucial for correcting variations in metabolite concentrations that result from factors, such as diet, age, and gender in order to judge whether metabolite levels are abnormal. However, a large number of reference samples requires the use of out-of-batch samples, which is hampered by the semi-quantitative nature of untargeted metabolomics data, i.

Practical applicability of the STAMCO and ChOLE classification in cholesteatoma care.

Background: To compare cholesteatoma care internationally and to evaluate outcomes, ear surgeons must use the same terminology. However, a clear universal definition on how to describe the extension, destruction and accompanying morbidity caused by the cholesteatoma is lacking. The practical applicability by means of interrater agreement is assessed for the STAMCO and the ChOLE classification.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively).

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Background: Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without concomitant betaine supplementation. We systematically evaluated reports from 11 published and 4 unpublished patients with CBS deficiency and from additional four cases of encephalopathy in association with elevated methionine.

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Routine diagnostic screening of inborn errors of metabolism (IEM) is currently performed by different targeted analyses of known biomarkers. This approach is time-consuming, targets a limited number of biomarkers and will not identify new biomarkers. Untargeted metabolomics generates a global metabolic phenotype and has the potential to overcome these issues.

CO2-Lasertonsillotomy Under Local Anesthesia in Adults.

Tonsil-related complaints are very common among the adult population. Tonsillectomy under general anesthesia is currently the most performed surgical treatment in adults for such complaints. Unfortunately, tonsillectomy is an invasive treatment associated with a high complication rate and a long recovery time.