Search results for "LM"
showing 10 items of 19289 documents
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
2017
Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…
Expansion und Transplantation limbaler Stammzellen zur Regeneration der kornealen Oberfläche
2017
ZusammenfassungDie Regeneration des Hornhautepithels wird beim Menschen über das Stammzellreservoir des Limbus reguliert. Bei ausgedehnter Zerstörung der Limbusregion im Rahmen von Entzündungen, Verbrennungen oder Verätzungen kann sich eine limbale Stammzellinsuffizienz ausbilden, bei der es zu einer Vaskularisation und Eintrübung der Hornhaut mit funktioneller Beeinträchtigung kommen kann. Es stehen verschiedene Verfahren der autologen und allogenen Transplantation limbaler Stammzellen zur Verfügung. So können ganze Limbusabschnitte und kleine Limbusbiopsate direkt transplantiert oder aus kleinen Limbusbiopsaten stammende Zellen zunächst ex vivo auf Trägermembranen vermehrt und anschließen…
Rezidivierende Hornhauterosion bei epithelialen Hornhautdystrophien
2018
ZusammenfassungDas Hornhautepithel stellt die wesentliche abbildende Struktur des optischen Systems dar. Rezidivierende Hornhauterosionen können durch Entzündung, Trauma, Degenerationen und Dystrophien verursacht werden. Die epitheliale Basalmembrandystrophie (EBMD), die epitheliale rezidivierende Erosionsdystrophie (ERED) nach Francheschetti und die Meesmannʼsche epitheliale Hornhautdystrophie (MECD) führen jenseits unterschiedlicher Symptome und klinischer Zeichen – bedingt durch verschiedene Pathomechanismen – mehr oder weniger häufig zu einer Erosio corneae. Diese treten bei der EBMD fakultativ auf, wobei jedoch das Krankheitsbild der EBMD sehr versteckt sein kann. Die histologische Urs…
Das Usher-Syndrom, eine Ziliopathie des Menschen
2018
ZusammenfassungDas humane Usher-Syndrom (USH) ist eine seltene, komplexe genetische Erkrankung, die sich in kombinierter Taubblindheit manifestiert. Aufgrund der Ausprägung des Krankheitsbilds werden 3 klinische Typen (USH1 – 3) unterschieden. Für eine korrekte Diagnose sind zusätzlich zu den auditorischen Tests im Zuge des Neugeborenenscreens auch frühe ophthalmologische Untersuchungen und eine molekulargenetische Abklärung notwendig. Die bislang 10 bekannten USH-Gene codieren für heterogene Proteine, die in Proteinnetzwerken miteinander in Funktionseinheiten kooperieren. Im Auge und im Ohr werden USH-Proteine vor allem in den mechanosensitiven Haarsinneszellen und den Stäbchen- und Zapfen…
Gut-microbiota-derived extracellular vesicles: Overlooked mediators in host–helminth interactions?
2021
Helminth infections impact the composition of the mammalian gut microbiota; however, the mechanisms underpinning these interactions are, thus far, unknown. In this article, we propose that microbiota-derived extracellular vesicles might represent key players in host-helminth-microbiome crosstalk, and outline future directions to elucidate their role(s) in host-parasite relationships.
Th2 and Th1 Responses: Clear and Hidden Sides of Immunity Against Intestinal Helminths.
2017
Intestinal helminthiases affect millions of people worldwide, mainly in developing regions, where they cause a significant negative impact on human health and socioeconomic growth of affected populations. However, intestinal helminthiases are still among the most neglected tropical diseases. Protective immunity against intestinal helminths is associated with development of type 2 responses. Nevertheless, in some host–intestinal helminth combinations, local Th1 responses are initiated, inducing chronicity. The usage of helminth–mouse models is useful for elucidating the mechanisms behind the initiation of each type of response. Herein, the current knowledge on these topics is reviewed, payin…
Classic Models for New Perspectives: Delving into Helminth–Microbiota–Immune System Interactions
2018
Whilst a wealth of data indicate that infections by gastrointestinal helminths are accompanied by significant alterations in the composition of the vertebrate gut flora, little is known of the immune-molecular mechanisms that regulate host-parasite-microbiota interactions. 'Traditional' experimental models of gastrointestinal helminthiases, in which the role(s) of each of the components of this triad can be tested, provide an opportunity to advance research in this area. In this article, we propose the Echinostoma caproni-mouse system as a potentially useful tool for studies of the role of the host gut microbiota in preventing pathology and inducing parasite clearance via interleukin (IL)-2…
Binding and neurotoxicity mitigation of toxic tau oligomers by synthetic heparin like oligosaccharides.
2018
Well-defined heparin like oligosaccharides up to decasaccharides were synthesized. It was discovered for the first time that heparin oligosaccharides, as short as tetrasaccharides, can bind with the most toxic tau species, i.e., tau oligomers with nM KD. The binding significantly reduced the cellular uptake of toxic tau oligomers and protected the cells from tau oligomer induced cytotoxicity.
Hepatitis B Virus Exploits ERGIC-53 in Conjunction with COPII to Exit Cells.
2020
Several decades after its discovery, the hepatitis B virus (HBV) still displays one of the most successful pathogens in human populations worldwide. The identification and characterization of interactions between cellular and pathogenic components are essential for the development of antiviral treatments. Due to its small-sized genome, HBV highly depends on cellular functions to produce and export progeny particles. Deploying biochemical-silencing methods and molecular interaction studies in HBV-expressing liver cells, we herein identified the cellular ERGIC-53, a high-mannose-specific lectin, and distinct components of the endoplasmic reticulum (ER) export machinery COPII as crucial factor…
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation a…
2016
Background Beckwith–Wiedemann syndrome (BWS) is an early-onset overgrowth disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of imprinted genes on chromosome 11p15.5; however, the driving forces in the development of tumors are not fully understood. Procedure We report on a female patient presenting with macrosomia, macroglossia, organomegaly and extensive bilateral nephroblastomatosis. Adjuvant chemotherapy was initiated; however, the patient developed hepatoblastoma and Wilms tumor at 5 and 12 months of age, respectively. Subsequent radiofrequency ablation of the liver tumor and partial nephrectomy followed by consolidation therapy achieved complete remis…