Publications by authors named "Nadine Herzig"

3 Publications

  • Page 1 of 1

Management of bone disease in cystinosis: Statement from an international conference.

J Inherit Metab Dis 2019 09 5;42(5):1019-1029. Epub 2019 Aug 5.

Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.

Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Virtually all individuals with classical, nephropathic cystinosis suffer from cystinosis metabolic bone disease (CMBD), related to the renal Fanconi syndrome in infancy and progressive chronic kidney disease (CKD) later in life. Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. Assessment of CMBD involves monitoring growth, leg deformities, blood levels of phosphate, electrolytes, bicarbonate, calcium, and alkaline phosphatase, periodically obtaining bone radiographs, determining levels of critical hormones and vitamins, such as thyroid hormone, parathyroid hormone, 25(OH) vitamin D, and testosterone in males, and surveillance for nonrenal complications of cystinosis such as myopathy. Treatment includes replacement of urinary losses, cystine depletion with oral cysteamine, vitamin D, hormone replacement, physical therapy, and corrective orthopedic surgery. The recommendations in this article came from an expert meeting on CMBD that took place in Salzburg, Austria, in December 2016.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379238PMC
September 2019

Deliberately Light Interpersonal Contact Affects the Control of Head Stability During Walking in Children and Adolescents With Cerebral Palsy.

Arch Phys Med Rehabil 2017 09 27;98(9):1828-1835. Epub 2017 Feb 27.

Department of Sport and Health Science, Technical University Munich, Munich, Germany; School of Health Sciences, University of East Anglia, Norwich, United Kingdom. Electronic address:

Objective: To evaluate the potential of deliberately light interpersonal touch (IPT) for reducing excessive head and trunk sway during self-paced walking in children and adolescents with cerebral palsy (CP).

Design: Quasi-experimental, proof-of-concept study with between-groups comparison.

Setting: Ambulant care facility, community center.

Participants: Children and adolescents (N=65), consisting of those with CP (spastic and ataxic, n=26; Gross Motor Function Classification System I-III; mean age, 9.8y; 11 girls, 15 boys) and those who were typically developed (TD, n=39; mean age, 10.0y; 23 girls, 16 boys).

Interventions: IPT applied by a therapist to locations at the back and the head.

Main Outcome Measures: As primary outcomes, head and trunk sway during self-paced walking were assessed by inertial measurement units. Secondary outcomes were average step length and gait speed.

Results: CP group: apex and occiput IPT reduced head velocity sway compared with thoracic IPT (both P=.04) irrespective of individuals' specific clinical symptoms. TD group: all testing conditions reduced head velocity sway compared with walking alone (all P≤.03), as well as in apex and occiput IPT compared with paired walking (both P≤.02).

Conclusions: Deliberately light IPT at the apex of the head alters control of head sway in children and adolescents with CP. The effect of IPT varies as a function of contact location and acts differently in TD individuals.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.apmr.2017.01.026DOI Listing
September 2017

Comparison of a nucleosidic vs non-nucleosidic postsynthetic "click" modification of DNA with base-labile fluorescent probes.

Bioconjug Chem 2009 Mar;20(3):558-64

Institute of Organic Chemistry, University of Regensburg, Regensburg, Germany.

The azides 1 and 2 bearing a phenoxazinium and a coumarin fluorophore, respectively, were applied in postsynthetic "click"-type bioconjugation and coupled to oligonucleotides modified with alkyne groups using two alternative approaches: (i) as a nucleotide modification at the 2'-position of uridine and (ii) as a nucleotide substitution using (S)-(-)-3-amino-1,2-propanediol as an acyclic linker between the phosphodiester bridges. The corresponding alkynylated phosporamidites 3 and 6 were used as DNA building blocks for the preparation of alkyne-bearing DNA duplexes. The base pairs adjacent to the site of modification and the base opposite to it were varied in the DNA sequences. The modified duplexes were investigated by UV/vis absorption spectroscopy (including melting temperatures) and fluorescence spectroscopy in order to study the different optical properties of the two chromophores and to evaluate their potential for bioanalytical applications. The sequence-selective fluorescence quenching of phenoxazinium 1 differs only slightly and does not depend on the type of modification, meaning whether it has been attached to the 2'-position of uridine or as DNA base surrogate using the acyclic glycol linker. The 2'-chromophore-modified uridine still recognizes adenine as the counterbase, and the duplexes exhibit a sufficient thermal stability that is comparable to that of unmodified duplexes. Thus, the application of the 2'-modification site of uridine is preferred in comparison to glycol-assisted DNA base surrogates. Accordingly, the coumarin dye azide 2 was attached only to the 2'-position of uridine. The significant Stokes shift of approximately 100 nm and the good quantum yields make the coumarin chromophore a powerful fluorescent label for nucleic acids.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1021/bc8004864DOI Listing
March 2009