Array genotyping as diagnostic approach in medical genetics.

Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications. Applications included stand-alone testing for specific variants (32 variants in 10 genes), first-tier array variant screening for monogenic conditions (10 different autosomal recessive metabolic diseases), and diagnostic workup for specific conditions caused by variants in multiple genes (suspected familial breast and ovarian cancer, and hypercholesterolemia).

Targeted Synthesis of the Type-A Particle Substructure from Enzymatically Produced Eumelanin.

Eumelanin exhibits a defined supramolecular buildup that is deprived of at least three distinct particle species. To enable the full potential of its promising material properties, access to all particle types is crucial. In this work, the first protocol for the synthesis of the intermediate type-A particles in pure and stable dispersion form is described.

Self-Assembled Fibrinogen Hydro- and Aerogels with Fibrin-like 3D Structures.

The natural blood protein fibrinogen is a highly potent precursor for the production of various biomaterials due to its supreme biocompatibility and cell interaction. To gain actual materials from fibrinogen, the protein needs to undergo fibrillogenesis, which is mostly triggered via enzymatic processing to fibrin, electrospinning, or drying processes. All of those techniques, however, strongly limit the available structures or the applicability of the material.

Sample Preparation of Secreted Mammalian Host Cell Proteins and Their Characterization by Two-Dimensional Electrophoresis and Western Blotting.

The manufacturing and purification of therapeutic recombinant proteins expressed by cultivated mammalian cells into the cell culture medium leaves the potential for contamination by host cell proteins (HCPs). Validation and quality control testing of any therapeutic protein needs to include a test to show that HCP contamination is at a minimal level. The presence of residual mammalian HCPs during purification and in the final drug product is typically determined using enzyme linked immunosorbent assay (ELISA), which is regarded as the gold standard.

Superstructure-Dependent Loading of DNA Origami Nanostructures with a Groove-Binding Drug.

DNA origami nanostructures are regarded as powerful and versatile vehicles for targeted drug delivery. So far, DNA origami-based drug delivery strategies mostly use intercalation of the therapeutic molecules between the base pairs of the DNA origami's double helices for drug loading. The binding of nonintercalating drugs to DNA origami nanostructures, however, is less studied.

Users' opinions on intensive care unit alarms--a survey of German intensive care units.

Monitoring of physiologic parameters in critically ill patients is associated with an enormous number of alarms, leading to reduced clinical value with high sensitivity but low specificity. To evaluate opinions of intensive care unit (ICU) staff on current monitoring we conducted a survey of German ICUs. Furthermore, the survey aimed to assess requirements and requests for future alarm systems.

Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia.

In patients with diabetes mellitus nonenzymatic glycosylation of hemo-globin is a result of increased blood glucose concentrations. In analogy glycosylated hemo-globin fractions were determined in 23 patients with hereditary fructose intolerance (HFI) and 8 patients with galactosemia (G) by means of hemoglobin chromatography on a column packed with Bio-Rex 70 resin. The concentrations were compared to those of 14 control patients and 43 patients with type 1 diabetes mellitus.

[Therapy of pituitary dwarfism with recombinant human growth hormone. A multicenter study].

During the period from 1982 to 1985, biosynthetic growth hormone (methionyl-hGH) was administered to 55 children with pituitary growth deficiency, 49 with idiopathic, six with other forms of the disorder. Preparations with a relatively high content of Escherichia coli polypeptides (ECP) were given to 32 children (group I), those with a markedly reduced ECP content to 12 (group II), while 11 children received almost ECP-free preparations (group III). The treatment achieved an intensive rise of growth acceleration in all three groups.

[Induction of puberty by pulsatile luteinizing hormone releasing hormone (LH-RH)--therapy in a boy with Kallmann syndrome].

To induce the lacking development of puberty, a male patient with hypothalamic hypogonadism and anosmia (Kallmann's syndrome) was treated with pulsatile application of gonadotropin-releasing hormone (GnRH) to imitate the endogenous secretion of GnRH. The low-dose pulsatile GnRH treatment which was reported to be successful by various authors proved to be ineffective when administered to our patient subcutaneously as well as intravenously. Serum testosterone levels comparable to the lower normal values in adults and continuous progress of pubertal development were only achieved after increasing the dosage from 2 to 8 micrograms per pulse by subcutaneous application.

Mass screening for glucose-6-phosphate dehydrogenase deficiency: improved fluorescent spot test.

New data on the reliability of the fluorescent spot test are presented. Improvements in the assay were established. Newborn mass screening for glucose-6-phosphate dehydrogenase (G-6-PD, EC 1.

[Conjugated-estrogen treatment of excessively tall girls (author's transl)].

46 excessively tall girls, aged 10.5-15 years and with a mean height prediction of 185.5+/-3.

[Gonadotropin secretion following pernasal stimulation with synthetic gonadotropin releasing hormone (GnRH) and a highly effective GnRH-analog in healthy men and prepubertal boys].

Potent long acting analogs of GnRH are of great interest especially in view of pernasal (p.n.) treatmen of hypogonadism of hypothalamic origin and of cryptorchidism.

Changes of serum testosterone and of LH-RH test after treatment of cryptorchidism by intranasal LH-RH.

The aim of the present investigation was to study, in a collaborative double-blind study, the treatment with intranasal LH-RH application of boys aged 1 1/2 to 12 years, who suffered from unilateral or bilateral cryptorchidism. A total of 88 subjects were randomly and blindly allocated to LH-RH and placebo therapy. Before and after 4 weeks of treatment basal testosterone serum levels were estimated and LH-RH tests were performed.

Treatment of cryptorchidism with pernasal gonadotropin-releasing hormone therapy.

Twenty-five boys between 1 and 10 years of age with unilateral or bilateral cryptorchidism were treated with 200 microgram of gonadotropin-releasing hormone (GnRH) pernasally six times daily until descensus was completed, or for 10 weeks at most. Complete descent of the tests occurred in 16 patients, usually after 2 to 5 weeks of treatment. No adverse side effects have been observed.

Treatment of cryptorchidism by intranasal synthetic luteinising-hormone releasing hormone. Results of a collaborative double-blind study.

The effect of intranasal luteinising-hormone releasing hormone (L.H.R.