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Establishing nucleic acid-based assays for genetic newborn screening (NBS) provides the possibility to screen for genetically encoded diseases like spinal muscular atrophy (SMA), best before the onset of symptoms. Such assays should be easily scalable to 384-well reactions that make the screening of up to 2000 samples per day possible. We developed a test procedure based on a cleanup protocol for dried blood spots and a quantitative (q)PCR to screen for a homozygous deletion of exon 7 of the survival of motor neuron 1 gene (SMN1) that is responsible for >95% of SMA patients. Performance of this setup is evaluated in detail and tested on routine samples. Our cleanup method for nucleic acids from dried blood spots yields enough DNA for diverse subsequent qPCR applications. To date, we have applied this approach to test 213,279 samples within 18 months. Thirty patients were identified and confirmed, implying an incidence of 1:7109 for the homozygous deletion. Using our cleanup method, a rapid workflow could be established to prepare nucleic acids from dried blood spot cards. Targeting the exon 7 deletion, no invalid, false-positive, or false-negative results were reported to date. This allows timely identification of the disease and grants access to the recently introduced treatment options, in most cases before the onset of symptoms. Carriers are not identified, thus, there are no concerns of whether to report them.

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before clinical manifestation. With an effective treatment available, a newborn screening assay is highly demanded. Since newborns with cystinosis usually do not show symptoms within the first months of life and no biochemical markers are easily detectable, a DNA-based method seems to be an obvious tool for early diagnosis. Screening was performed using high-throughput nucleic acid extraction followed by 384-well qPCR and melting analysis for the three most frequent variants (57 kb deletion NC_000017.11:g.3600934_3658165del (GRCh38); c.18_21del GACT; c.926dupG) responsible for the defective lysosomal membrane protein cystinosin (CTNS). To increase sensitivity, all heterozygous samples identified in qPCR assay were verified and screened for additional variants by applying next generation sequencing. From January 2018 to July 2019 nearly 292,000 newborns were successfully screened. We identified two newborns with a homozygous 57 kb deletion and a second one with heterozygous 57 kb deletion and a G>C substitution at position c.-512 on the second allele. Cystinosis is an example for diseases caused by a limited number of high prevalence and a high number of low prevalence variants. We have shown that qPCR combined with NGS can be used as a high throughput, cost effective tool in newborn screening for such diseases.

The focus of the recent investigation lies on the cultural assignment and archaeological chronology of the A-Group, the scientific result of which is to establish an internal chronology. With the emphasis on the Nubian pottery classes and type groups the study is mainly based on the find materials of the early surveys in the 20th century but also on the lately published works of the Aswan – Kom Ombo – Survey. The bulk of the published find material represents the material culture that was excavated during the different salvage campaigns conducted in Lower Nubia and in the Second Cataract area.

We consider differential operators A that can be represented by means of a so-called closure relation in terms of a simpler operator A ext defined on a larger space. We analyse how the spectral properties of A and A ext are related and give sufficient conditions for exponential stability of the semigroup generated by A in terms of the semigroup generated by A ext . As applications we study the long-term behaviour of a coupled wave–heat system on an interval, parabolic equations on bounded domains that are coupled by matrix-valued potentials, and of linear infinite-dimensional port-Hamiltonian systems with dissipation on an interval.

Most immigrant parents face the challenge of passing on their heritage language to their children. Family predictors of Turkish heritage language vocabulary are examined for 119 preschoolers and 121 fourth graders in Germany. Path analyses link children's Turkish vocabulary to the family background (parents’ education and generational status), the home literacy environment (HLE), and mothers’ language use. The main findings are (a) the HLE predicts children's Turkish vocabulary, (b) mothers’ use of Turkish with their children predicts children's Turkish vocabulary, and (c) family background is mainly connected to Turkish vocabulary by way of mothers’ use of Turkish. The HLE and being exposed to Turkish are both important for children's heritage vocabulary. Thus, parents can use everyday resources to actively promote their children's Turkish language skills.

We consider differential operators \\(A\\) that can be represented by means of a so-called closure relation in terms of a simpler operator \\(A_{\\operatorname{ext}}\\) defined on a larger space. We analyze how the spectral properties of \\(A\\) and \\(A_{\\operatorname{ext}}\\) are related and give sufficient conditions for exponential stability of the semigroup generated by \\(A\\) in terms of the semigroup generated by \\(A_{\\operatorname{ext}}\\). As applications we study the long-term behaviour of a coupled wave-heat system on an interval, parabolic equations on bounded domains that are coupled by matrix valued potentials, and of linear infinite-dimensional port-Hamiltonian systems with dissipation on an interval.