排序方式: 共有20条查询结果,搜索用时 31 毫秒
1.
Jochen Süßmuth Wassilios-Daniele Protogerakis Alexander Piazza Frank Enders Ramin Naraghi Günther Greiner Peter Hastreiter 《International journal of computer assisted radiology and surgery》2010,5(6):647-654
Purpose
Visualization of pathological contact between cranial nerves and vascular structures at the surface of the brainstem is important for diagnosis and treatment of neurovascular compression (NVC) syndromes. We developed a method for improved visualization of this abnormality. 相似文献2.
3.
Philipp Meyer-Marcotty Felix Kunz Tilmann Schweitzer Barbara Wachter Hartmut Böhm Nina Waßmuth Christian Linz 《Journal of cranio-maxillo-facial surgery》2018,46(6):987-993
Purpose
In the first months of life, any deviation from a physiological growth pattern can cause skull deformity. As there has not been any longitudinal three-dimensional (3D) study investigating the physiological growth of the infant skull, the aim of the present study was to acquire such data.Materials and Methods
We performed 3D stereophotogrammetric scans of 40 infants without cranial asymmetry at four regular 2-month intervals from the 4th to the 10th month of age. Six growth-related parameters (circumference, length, width, height, cephalic index [CI; width-length ratio] and total head volume) were used to analyse skull growth longitudinally.Results
With exception of the CI, all parameters showed significant increases, with maximum percentage growth from the 4th to the 6th month. The CI initially remained unchanged until the 6th month, before showing a significant reduction that continued throughout the study period. Male infants had larger heads than female infants, but a similar width-length ratio at all measurement times.Conclusion
This prospective study is the first longitudinal 3D analysis to examine the physiological growth dynamics of infants' heads within the first months of life. Understanding patterns of skull growth in all three dimensions is important for gaining further insights into physiological and pathophysiological skull development. 相似文献4.
5.
6.
Identification and Analysis of the Balhimycin Biosynthetic Gene Cluster and Its Use for Manipulating Glycopeptide Biosynthesis in Amycolatopsis mediterranei DSM5908 总被引:4,自引:0,他引:4 下载免费PDF全文
S. Pelzer R. Süßmuth D. Heckmann J. Recktenwald P. Huber G. Jung W. Wohlleben 《Antimicrobial agents and chemotherapy》1999,43(7):1565-1573
Seven complete genes and one incomplete gene for the biosynthesis of the glycopeptide antibiotic balhimycin were isolated from the producer, Amycolatopsis mediterranei DSM5908, by a reverse-cloning approach and characterized. Using oligonucleotides derived from glycosyltransferase sequences, a 900-bp glycosyltransferase gene fragment was amplified and used to identify a DNA fragment of 9,882 bp. Of the identified open reading frames, three (oxyA to -C) showed significant sequence similarities to cytochrome P450 monooxygenases and one (bhaA) showed similarities to halogenase, and the genes bgtfA to -C showed similarities to glycosyltransferases. Glycopeptide biosynthetic mutants were created by gene inactivation experiments eliminating oxygenase and glycosyltransferase functions. Inactivation of the oxygenase gene(s) resulted in a balhimycin mutant (SP1-1) which was not able to synthesize an antibiotically active compound. Structural analysis by high-performance liquid chromatography-mass spectrometry, fragmentation studies, and amino acid analysis demonstrated that these oxygenases are involved in the coupling of the aromatic side chains of the unusual heptapeptide. Mutant strain HD1, created by inactivation of the glycosyltransferase gene bgtfB, produced at least four different compounds which were not glycosylated but still antibiotically active. 相似文献
7.
Kunz Felix Schweitzer Tilmann Dörr Alexander Waßmuth Nina Stellzig-Eisenhauer Angelika Böhm Hartmut Linz Christian 《Clinical oral investigations》2020,24(9):2991-2999
Clinical Oral Investigations - Although prematurity is a risk factor for developing deformational plagiocephaly (DP), to our knowledge, there are no studies that have analyzed the impact of a... 相似文献
8.
Markus Buelow David Süßmuth Laurie D. Smith Omid Aryani Claudia Castiglioni Werner Stenzel Enrico Bertini Markus Schuelke Ellen Knierim 《European journal of human genetics : EJHG》2021,29(7):1121
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Variants in SPTBN4 disrupt the cytoskeletal machinery that controls proper localization of ion channels and the function of axonal domains, thereby generating severe neurological dysfunction. We set out to analyze the genetic causes and describe the clinical spectrum of suspected cases of NEDHND. Variant screening was done by whole exome sequencing; clinical phenotypes were described according to the human phenotype ontology, and histochemical analysis was performed with disease-specific antibodies. We report four families with five patients harboring novel homozygous and compound heterozygous SPTBN4 variants, amongst them a multi-exon deletion of SPTBN4. All patients presented with the key features of NEDHND; severe muscular hypotonia, dysphagia, absent speech, gross motor, and mental retardation. Additional symptoms comprised horizontal nystagmus, epileptiform discharges in EEG without manifest seizures, and choreoathetosis. Muscle histology revealed both characteristics of myopathy and of neuropathy. This report expands the SPTBN4 variant spectrum, highlights the spectrum of morphological phenotypes of NEDHND-patients, and reveals clinical similarities between the NEDHND, non-5q SMA, and congenital myopathies.Subject terms: Genetics research, Disease genetics 相似文献
9.
10.
Costanza Pellegrini MD Markus Freißmuth MD Tobias Rheude MD David Graas MD N. Patrick Mayr MD Finn Syryca MD Hector A. Alvarez-Covarrubias MD PhD Andrei Fetcu MD Judith Hübner MD Carsten Lennerz MD Heribert Schunkert MD Adnan Kastrati MD Erion Xhepa MD PhD Michael Joner MD 《Catheterization and cardiovascular interventions》2023,102(7):1301-1310