Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clinical trial data into a real-life environment is challenging, especially regarding the advice of patients and families to what extent they can expect a benefit from the novel treatment.

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Chromosomal microarray testing is commonly used to identify disease causing de novo copy number variants in patients with developmental delay and multiple congenital anomalies. In such a patient we now observed an 150 kb deletion on chromosome 7q21.11 affecting the first exon of the axon guidance molecule gene SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A).

Official measurement protocol and accuracy results for an optical surgical navigation system (NPU).

Image-guided surgical navigation is on the rise in many different areas of modern medicine and is already an established standard in some disciplines like ear nose and throat (ENT) or maxillofacial surgery. When evaluating surgical navigation systems the absolute accuracy of the device is of major concern to the surgeon. The following work presents two different ways of measuring the accuracy of surgical navigation systems using the example of the KARL STORZ Navigation Panel Unit (NPU).

Design and accuracy evaluation of a new navigated drill system for computer assisted ENT-surgery.

In this article a new navigated drill system for computer assisted ear, nose and throat (ENT) surgery is presented. The navigated drill and the microscope probe are part of a surgical navigation system for ENT-surgery. In particular, the accuracy of the new navigated drill is compared to an existing navigated drill experimentally under conditions close to the surgical workflow.

Automatic correction of registration errors in surgical navigation systems.

Surgical navigation systems are used widely among all fields of modern medicine, including, but not limited to ENT- and maxillofacial surgery. As a fundamental prerequisite for image-guided surgery, intraoperative registration, which maps image to patient coordinates, has been subject to many studies and developments. While registration methods have evolved from invasive procedures like fixed stereotactic frames and implanted fiducial markers toward surface-based registration and noninvasive markers fixed to the patient's skin, even the most sophisticated registration techniques produce an imperfect result.

Virtual endoscopy on a portable navigation system for ENT surgery.

Virtual endoscopy is considered as an ideal aid assessing the complex anatomy of patients and has already been evaluated in several clinical studies. However, due to the increasing quality of modern CT- and MRT-images, present virtual-endoscopy software relies on powerful hardware. In this contribution virtual endoscopy on a portable navigation system for ENT surgery is proposed.

Evaluation of baculovirus-derived recombinant 53-kDa protein of Trichinella spiralis for detection of Trichinella-specific antibodies in domestic pigs by ELISA.

The complete gene encoding the 53-kDa protein derived from Trichinella spiralis was cloned and expressed using a baculovirus-based system. Characterization of a purified fusion protein consisting of the 53-kDa protein and the glutathione S-transferase protein showed unspecific reactivity with swine pre-immune serum in both enzyme-linked immunosorbent assay (ELISA) and Western blot analysis. Subsequently, a purified C-terminal 6xHis-tagged 53-kDa protein was used in an ELISA.