[Knowledge and attitudes towards sharing of health data: Results of a population survey].

Objective: The article tackles various issues arising in the context of the process of digitalization in the health sector. The communication and availability of health data, health registers, the electronic health record, consent procedures for the transfer of data and access to health data for research are considered.

Methods: The study is based on a computer-assisted telephone survey (dual-frame) of a random sample of adult people living in Germany.

Analyzing factors determining vaccination willingness against COVID-19 in Germany 2020.

The study is based on a German single-topic population survey on vaccination willingness against COVID-19 (VWC) by the authors (2020, n = 2014). The single-topic survey allowed us to test several competing explanations for VWC, as discussed in the literature. The VWC in the sample was 67.

CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.

Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses macrocephaly, implicating cortical abnormalities, how CHD8 haploinsufficiency affects neurodevelopmental is unclear. Here, employing human cerebral organoids, we find that CHD8 haploinsufficiency disrupted neurodevelopmental trajectories with an accelerated and delayed generation of, respectively, inhibitory and excitatory neurons that yields, at days 60 and 120, symmetrically opposite expansions in their proportions.

Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.

De novo loss of function mutations in the ubiquitin ligase-encoding gene Cullin3 (CUL3) lead to autism spectrum disorder (ASD). In mouse, constitutive Cul3 haploinsufficiency leads to motor coordination deficits as well as ASD-relevant social and cognitive impairments. However, induction of Cul3 haploinsufficiency later in life does not lead to ASD-relevant behaviors, pointing to an important role of Cul3 during a critical developmental window.

Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.

SETD5 gene mutations have been identified as a frequent cause of idiopathic intellectual disability. Here we show that Setd5-haploinsufficient mice present developmental defects such as abnormal brain-to-body weight ratios and neural crest defect-associated phenotypes. Furthermore, Setd5-mutant mice show impairments in cognitive tasks, enhanced long-term potentiation, delayed ontogenetic profile of ultrasonic vocalization, and behavioral inflexibility.

Mapping the mouse Allelome reveals tissue-specific regulation of allelic expression.

To determine the dynamics of allelic-specific expression during mouse development, we analyzed RNA-seq data from 23 F1 tissues from different developmental stages, including 19 female tissues allowing X chromosome inactivation (XCI) escapers to also be detected. We demonstrate that allelic expression arising from genetic or epigenetic differences is highly tissue-specific. We find that tissue-specific strain-biased gene expression may be regulated by tissue-specific enhancers or by post-transcriptional differences in stability between the alleles.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs.

Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans.

Background: Long non-coding RNAs (lncRNAs) are increasingly implicated as gene regulators and may ultimately be more numerous than protein-coding genes in the human genome. Despite large numbers of reported lncRNAs, reference annotations are likely incomplete due to their lower and tighter tissue-specific expression compared to mRNAs. An unexplored factor potentially confounding lncRNA identification is inter-individual expression variability.

Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data.

Detecting allelic biases from high-throughput sequencing data requires an approach that maximises sensitivity while minimizing false positives. Here, we present Allelome.PRO, an automated user-friendly bioinformatics pipeline, which uses high-throughput sequencing data from reciprocal crosses of two genetically distinct mouse strains to detect allele-specific expression and chromatin modifications.

Percutaneous renal ablation in patients with end-stage renal disease: alternative to surgical nephrectomy.

Percutaneous transcatheter ablation was performed on 18 kidneys in ten patients with end-stage renal disease (ESRD), who were either on hemodialysis or had undergone renal transplantation, for the following indications: nephrotic syndrome with massive protein loss (seven patients, 13 kidneys), poorly controlled posttransplantation hypertension in the absence of transplant renal artery stenosis (two patients, three kidneys), and diabetic nephropathy with persistent urine leak from ureterocutaneous fistulas following pelvic irradiation (one patient, two kidneys). Desired clinical results were achieved in all cases. Percutaneous renal ablation is an effective alternative to surgery in patients with ESRD who require nephrectomy.

Interventional angiography in the diagnosis of acute lower gastrointestinal bleeding.

Interventional angiography with the use of indwelling arterial catheters, anticoagulants, vasodilators and fibrinolytic agents, complements conventional angiography in the diagnosis of acute lower gastrointestinal bleeding. These interventional techniques prolong, augment or reactive bleeding and, by enabling better timing of examinations, they increase the diagnostic efficacy of angiography. In the reported series of 63 patients with acute lower gastrointestinal hemorrhage, interventions increased the diagnostic yield of angiography for demonstration of extravasation from 32% to 65% and decreased the percentage of negative angiograms from 27% to 16%.

Antegrade internal ureteral stenting: a technical refinement.

A pliable, easy to place, double pigtail, internal ureteral stent made of elastomeric polyurethane is described. The tapered distal pigtail end minimizes bladder irritation and the combination of a pusher and absorbable suture enables optimal placement of the proximal pigtail end in the renal pelvis. Ten stents used in eight patients remained functional without bladder irritation for a mean period of 8 months (range, 2-14 months).

Iopamidol arteriography: discomfort and pain.

A double-blind, randomized study was performed to compare discomfort and pain associated with the use of iopamidol and Hypaque (diatrizoate sodium and diatrizoate meglumine) during iliofemoral runoff arteriography in 33 patients. Iopamidol caused substantially less discomfort and pain. The evaluation was helped by audiotaping the study and comparing patients' vocal responses to injections of these materials.

Percutaneous removal of ureteral stents.

A new device for the removal of ureteral stents by the percutaneous nephrostomy route is presented. We used this device successfully in a 4-month-old male child. Its advantages in the removal of unwanted intracorporeal wanderers such as lost catheters are discussed.

Gelfoam powder embolization of the left gastric artery in treatment of massive small-vessel gastric bleeding.

Gelfoam (gelatin foam) powder was used for embolization therapy of massive gastric bleeding from small vessels in 14 patients with severe underlying medical problems. Bleeding was controlled in 10 patients with lesions localized in areas supplied by the embolized left gastric artery. In four patients with concurrent lesions in other portions of the stomach, bleeding decreased only (3 patients) or did not respond to embolization (1 patient).

Transluminal expandable nitinol coil stent grafting: preliminary report.

A method is described for the percutaneous catheter placement of expandable nitinol coil stents for the nonoperative restoration and maintenance of patency in internal flow pathways, especially the lumina of blood vessels and biliary ducts.

Transhepatic obliteration of gastroesophageal varices with absolute ethanol.

Absolute ethanol was evaluated as a vaso-obliterative agent in 15 patients with bleeding of gastroesophageal varices. Initial control of hemorrhaging was obtained in 13 (87%). Two patients died from unrelated causes within 48 hours of the procedure.

Pharmacoangiography in the diagnosis of recurrent massive lower gastrointestinal bleeding.

The source of recurrent massive lower gastrointestinal bleeding can sometimes escape detection by conventional diagnostic measures. In such situations, bleeding can be directly provoked by pharmacoangiography using vasodilators, anticoagulants, and/or fibrinolytic agents. Heparin, streptokinase, and tolazoline, used separately or in combination, can augment, prolong, or reactivate transient, covert bleeding, thereby facilitating angiographic identification and localization of the lesion.

Percutaneous interventional catheter therapy for lesions of the chest and lungs.

Percutaneous, nonsurgical interventions using angiographic catheter techniques and radiologic guidance were used in the management of seven cases of various lesions of the chest and lungs. Successful catheter therapy included the embolization of a large, acquired, postinflammatory vascular malformation causing massive hemoptysis and a cavernous hemangioma of the chest wall. Sixteen pulmonary arteriovenous fistulas (one patient), an iatrogenic internal mammary artery-to-innominate vein fistula, and a persistent, postbiopsy bronchopleural fistula were successfully closed.