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FlAsH staining and antibody counterstaining of all four constructs showed cell membrane expression of all MCT8 constructs. The construct with the tag after the first start codon demonstrated comparable T3 uptake to the MCT8 wildtype.

Our data indicate that introduction of a TC-tag directly after the first start codon generates a MCT8 reporter with suitable characteristics for live-cell monitoring of MCT8 expression. One promising future application will be generation of stable hiPSC MCT8 reporter lines to characterize MCT8 expression patterns during

neuronal development.

Our data indicate that introduction of a TC-tag directly after the first start codon generates a MCT8 reporter with suitable characteristics for live-cell monitoring of MCT8 expression. One promising future application will be generation of stable hiPSC MCT8 reporter lines to characterize MCT8 expression patterns during in vitro neuronal development.No Abstract.No Abstract.Ultrasound safety is of particular importance in fetal and neonatal scanning. Fetal tissues are vulnerable and often still developing, the scanning depth may be low, and potential biological effects have been insufficiently investigated. On the other hand, the clinical benefit may be considerable. The perinatal period is probably less vulnerable than the first and second trimesters of pregnancy, and ultrasound is often a safer alternative to other diagnostic imaging modalities. Here we present step-by-step procedures for obtaining clinically relevant images while maintaining ultrasound safety. We briefly discuss the current status of the field of ultrasound safety, with special attention to the safety of novel modalities, safety considerations when ultrasound is employed for research and education, and ultrasound of particularly vulnerable tissues, such as the neonatal lung. This CME is prepared by ECMUS, the safety committee of EFSUMB, with contributions from OB/GYN clinicians with a special interest in ultrasound safety.Salivary gland diseases are rare. In the European Union (EU) a disease is considered to be rare if not more than 5 of 10,000 people are affected by it. According to estimates in Germany are about 4 million people with a rare disease. In the EU are about 30 million people with rare diseases [1]. In the present work most of the described diseases of salivary glands and of the facial nerve fall in this category. They form a very heterogeneous group whose treatment takes place mainly in specialized centers. Still, it is essential for the otolaryngologist to identify and to diagnose these diseases in order to initiate the right therapeutic steps. The work is a compilation of innate andacquired rare salivary gland disorders and of rare facial nerve disorders. The etiologies of inflammatory diseases, autoimmune disorders and tumors are taken into account. For the individual topics, the current literature, if available, was evaluated and turned into summarized facts. In this context the development of new processes, diagnostics, imaging and therapy are considered. Genetic backgrounds of salivary gland tumors and the trends in the treatment of tumorous lesions of the facial nerve are picked up. Furthermore, also rare diseases of the salivary glands in childhood are described. Some of them can occur in adults as well, but differ in frequency and symptoms. Due to the rarity of these diseases, it is recommended to tread these in centers with special expertise for it. Finally, the difficulties of initiation of studies and the problems of establishing disease registries concerning salivary gland disorders are discussed. This is very relevant because these pathologies are comparatively seldom.Diseases occurring with an incidence of less than 1-10 cases per 10 000 individuals are considered as rare. Currently, between 5 000 and 8 000 rare or orphan diseases are known, every year about 250 rare diseases are newly described. CQ31 activator Many of those pathologies concern the head and neck area. In many cases, a long time is required to diagnose an orphan disease. The lives of patients who are affected by those diseases are often determined by medical consultations and inpatient stays. Most orphan diseases are of genetic origin and cannot be cured despite medical progress. However, during the last years, the perception of and the knowledge about rare diseases has increased also due to the fact that publicly available databases have been created and self-help groups have been established which foster the autonomy of affected people. Only recently, innovative technical progress in the field of biogenetics allows individually characterizing the genetic origin of rare diseases in single patients. Based on this, it should be possible in the near future to elaborate tailored treatment concepts for patients suffering from rare diseases in the sense of translational and personalized medicine. This article deals with orphan diseases of the lip, oral cavity, pharynx, and cervical soft tissues depicting these developments. The readers will be provided with a compact overview about selected diseases of these anatomical regions. References to further information for medical staff and affected patients support deeper knowledge and lead to the current state of knowledge in this highly dynamic field.This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory laryngeal disorders, benign and malignant epithelial as well as non-epithelial tumors, laryngeal and tracheal manifestations of general diseases and, finally, thyroid disorders are discussed. The individual chapters contain an overview of the data situation in the literature, the clinical appearance of each disorder, important key points for diagnosis and therapy and a statement on the prognosis of the disease. Finally, the authors indicate on study registers and self-help groups.This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are available, the prognosis are described. The authors tried to highlight the most characteristic aspects of the different diseases to describe their relevant aspects in spite of the brevity of the subsections.Due to their low incidence and thus resulting limited diagnostic criteria as well as therapeutic options, rare diseases of the nose, the paranasal sinuses, and the anterior skull base are a significant challenge. The value as of which a disease has to be considered as rare amounts to a maximum of 5 patients per 10 000 people. Within these diseases, however, there are extreme differences. Some rare or orphan diseases like for example the inverted papilloma belong to regularly diagnosed and treated diseases of larger departments of oto-rhino-laryngology whereas other rare diseases and malformations have only been described in less than 100 case reports worldwide. This fact emphasizes the necessity of bundling the available experience of diagnostics and therapy. The present article gives an overview about rare diseases of the nose, the paranasal sinuses, and the anterior skull base from the field of diseases/syndromes of the olfactory system, malformations of the nose and paranasal sinuses, ventilation and functional disorders as well as benign and malignant tumors. The classification and data on diagnostic and therapeutic options were established based on the current literature.Otalgia, otorrhea and hearing loss are the most common ear-related symptoms that lead to the consultation of an otolaryngologist. Furthermore, balance disorders and affections of the cranial nerve function may play a role in the consultation. In large academic centres, but also in primary care, the identification of rare diseases of the middle ear and the lateral skull base is essential, as these diseases often require interdisciplinary approaches to establish the correct diagnosis and to initiate safe and adequate treatments. This review provides an overview of rare bone, neoplastic, haematological, autoimmunological and infectious disorders as well as malformations that may manifest in the middle ear and the lateral skull base. Knowledge of rare disorders is an essential factor ensuring the quality of patient care, in particular surgical procedures. Notably, in untypical, complicated, and prolonged disease courses, rare differential diagnoses need to be considered.The differential diagnosis of vertigo syndromes is a challenging issue, as many - and in particular - rare disorders of the vestibular labyrinth can hide behind the very common symptoms of "vertigo" and "dizziness". The following article presents an overview of those rare disorders of the balance organ that are of special interest for the otorhinolaryngologist dealing with vertigo disorders. For a better orientation, these disorders are categorized as acute (AVS), episodic (EVS) and chronic vestibular syndromes (CVS) according to their clinical presentation. The main focus lies on EVS sorted by their duration and the presence/absence of triggering factors (seconds, no triggers vestibular paroxysmia, Tumarkin attacks; seconds, sound and pressure induced "third window" syndromes; seconds to minutes, positional rare variants and differential diagnoses of benign paroxysmal positional vertigo; hours to days, spontaneous intralabyrinthine schwannomas, endolymphatic sac tumors, autoimmune disorders of the inner ear). Furthermore, rare causes of AVS (inferior vestibular neuritis, otolith organ specific dysfunction, vascular labyrinthine disorders, acute bilateral vestibulopathy) and CVS (chronic bilateral vestibulopathy) are covered. In each case, special emphasis is laid on the decisive diagnostic test for the identification of the rare disease and "red flags" for potentially dangerous disorders (e. g. labyrinthine infarction/hemorrhage). Thus, this chapter may serve as a clinical companion for the otorhinolaryngologist aiding in the efficient diagnosis and treatment of rare disorders of the vestibular labyrinth.Despite the low overall prevalence of individual rare diseases, cochlear dysfunction leading to hearing loss represents a symptom in a large proportion. The aim of this work was to provide a clear overview of rare cochlear diseases, taking into account the embryonic development of the cochlea and the systematic presentation of the different disorders. Although rapid biotechnological and bioinformatic advances may facilitate the diagnosis of a rare disease, an interdisciplinary exchange is often required to raise the suspicion of a rare disease. It is important to recognize that the phenotype of rare inner ear diseases can vary greatly not only in non-syndromic but also in syndromic hearing disorders. Finally, it becomes clear that the phenotype of the individual rare diseases cannot be determined exclusively by classical genetics even in monogenetic disorders.