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Lipid nanoparticles are a successful carrier system for dermal drug delivery. They possess various beneficial properties, i.e., increased chemical stability for chemically labile compounds, increased dermal penetration of active compounds, or skin carrying properties after dermal application due to the formation of a so-called “invisible patch.” Despite manifold studies showing these properties individually, a study that investigates if one lipid nanoparticle formulation can really combine all the above-mentioned benefits at once is not yet available. In the present study, lipid nanoparticles (NLC) were produced and characterized regarding their physico-chemical properties. The chemical stability of the incorporated active ingredient (AI) was determined, as well as the dermal penetration efficacy of the AI, and the skin carrying properties of the NLC after dermal penetration. The properties of the NLC were compared to classical formulations, i.e., AI dissolved in pure oil, an o/w cream base and a nanoemulsion. All formulations contained similar lipids and emulsifiers, which allowed for a direct comparison of the different properties. NLC were shown to provide most efficient chemical stabilization and most efficient dermal penetration for the AI. The formation of the invisible patch was shown for the NLC but not for the other formulations. Skin hydration and skin carrying properties were also most pronounced for the NLC. Results provide evidence that NLC can combine all beneficial effects that were previously described in one formulation. Thus, providing evidence that NLC are a holistically superior formulation principle when compared to other formulation principles. Graphical abstract

Objectives: About four million people are affected by rare diseases in Germany and 30 million in the EU. In 2013, a national action plan for people with rare diseases was adopted in Germany which is also aimed at improving the information situation and better gathering of information for affected patients and their families. Since then, various sources of information and medical care structures have been made available. The aim of this study was to evaluate the state of knowledge about information sources and health care centres for rare diseases among those affected. Methods: The study was carried out as anonymous survey among the member associations of the German Alliance for Chronic Rare Diseases (German acronym ACHSE e. V.). For this, a questionnaire was developed which in addition to questions on gender, age and disease comprised free text input referring to knowledge of health care centres or expert centres and source of information on rare diseases in Germany. Results: A total of 484 individuals suffering from 96 different rare diseases participated in the survey. Of these, 74.47% are aware of medical or dental care centres for treatment of their types of rare disease; 69.31% use self-help groups as a source of information, only a few respondents know government-sponsored "se-atlas" and "Orphanet". Conclusion: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard.

In Deutschland sind rund 4 Mio. Menschen von verschiedenen seltenen Erkrankungen betroffen, von denen sich etwa 15 % im Zahn‑, Mund‑, Kiefer- und Gesichtsbereich manifestieren konnen. Mit dieser Querschnittsstudie soll die mundgesundheitsbezogene Lebensqualitat bei Menschen mit seltenen Krankheiten ermittelt und der Zusammenhang mit den Faktoren orale Symptome, Diagnoseverzogerung und Geschlecht untersucht werden. Ein Fragebogen mit offenen Fragen und 14 Fragen aus dem validierten Verfahren OHIP (Oral Health Impact Profile; G14) zur Erhebung der subjektiven mundgesundheitsbezogenen Lebensqualitat wurde 125 deutschen Mitgliedsverbanden des Dachverbands von Selbsthilfegruppen zugesandt. Der Zusammenhang zwischen OHIP-Werten und den 3 Faktoren wurde mittels Regressionsmodell mit einem Signifikanzniveau von p = 0,01 evaluiert. Insgesamt nahmen 473 Personen mit 96 unterschiedlichen seltenen Erkrankungen an der Studie teil. Der OHIP-Wert bei Teilnehmenden ohne orale Manifestationen lag 6,54 Punkte niedriger als bei jenen mit oralen Symptomen (p = 0,001). Bei oralen Symptomen stieg der OHIP-Wert mit jedem Jahr Diagnoseverzogerung um 0,080 Punkte (p = 0,014). Ein Zusammenhang mit dem Geschlecht wurde nicht gefunden. Bei seltenen Erkrankungen zeigt sich unabhangig vom Vorliegen oraler Symptome eine schlechtere mundgesundheitsbezogene Lebensqualitat als bei der deutschen Normbevolkerung. Wenn orale Symptome vorliegen, stehen diese im negativen Zusammenhang mit der mundgesundheitsbezogenen Lebensqualitat. Durchschnittlich vergehen bis zur Diagnose der jeweiligen seltenen Erkrankung 8,37 Jahre. Je fruher die Diagnose gestellt wird, desto besser ist die mundgesundheitsbezogene Lebensqualitat der Betroffenen.

Poor aqueous solubility of active compounds is a major issue in today’s drug delivery. In this study the smartFilm-technology was exploited to improve the dermal penetration efficacy of a poorly soluble active compound (curcumin). Results were compared to the dermal penetration efficacy of curcumin from curcumin bulk suspensions and nanocrystals, respectively. The smartFilms enabled an effective dermal and transdermal penetration of curcumin, whereas curcumin bulk- and nanosuspensions were less efficient when the curcumin content was similar to the curcumin content in the smartFilms. Interestingly, it was found that increasing numbers of curcumin particles within the suspensions increased the passive dermal penetration of curcumin. The effect is caused by an aqueous meniscus that is created between particle and skin if the dispersion medium evaporates. The connecting liquid meniscus causes a local swelling of the stratum corneum and maintains a high local concentration gradient between drug particles and skin. Thus, leading to a high local passive dermal penetration of curcumin. The findings suggest a new dermal penetration mechanism for active compounds from nano-particulate drug delivery systems, which can be the base for the development of topical drug products with improved penetration efficacy in the future.

In Germany, around four million people are affected by a rare disease, from which 15% show orofacial manifestations.The aim of this cross-sectional study was to determine the oral health-related quality of life of people with rare diseases and to investigate the relationship between oral symptoms, diagnostic delay, and gender.A questionnaire with open-ended questions, including questions from the validated oral health impact profile (OHIP) G14 questionnaire, was developed to survey the subjective oral health-related quality of life. The questionnaire was sent to 125 German member associations of the umbrella organization of self-help groups. The correlation between OHIP values and the three factors was evaluated using a regression model with a significance level of p = 0.01.In total, 473 participants affected by 96 different rare diseases were included in this analysis. The OHIP value for participants without oral manifestations was 6.54 points lower than for those with oral symptoms (p = 0.001). For oral symptoms, the OHIP increased by 0.080 points (p = 0.014) with each year of diagnostic delay. A connection with sex was not found.Regardless of the presence of oral symptoms, people with rare diseases in Germany show a poorer oral health-related quality of life than is known to the normal population. If oral symptoms are present, they show a negative correlation with oral health-related quality of life. On average, it takes 8.37 years for a disease to be correctly diagnosed. The earlier a rare disease is diagnosed, the better the oral health-related quality of life of those affected.

Background and Objective: The oral health-related quality of life (OHRQoL) of patients with achalasia has not been evaluated to date. Therefore, the aim of this study was to assess the OHRQoL of patients with achalasia and to get information about the time taken for diagnosis and oral symptoms. Materials and Methods: The study was conceived of as an anonymous epidemiological survey study in people with achalasia in order to assess their OHRQoL in each case. For this, a questionnaire was developed consisting of free-text questions and of the standardized German version of the OHIP-14 questionnaire. Results: In total, forty-four questionnaires were analyzed including 31 female and 13 male participants. Regardless of gender, the mean age was 50.57 years (range: 17&ndash, 78). Of the surveyed individuals, seventy-nine-point-five-five percent had been diagnosed between 25 and 60 years of age. The period from the first signs of the disease to diagnosis was 6.15 years, irrespective of gender. The overall OHIP-14 score without gender differentiation was 8.72 points (range 0&ndash, 48), the mean score of female participants was 11.13 (range: 0&ndash, 48), and the OHIP score of male participants was 3.15 on average. Two participants reported oral symptoms. Conclusions: The already known problem of the delayed diagnosis of rare diseases was also confirmed in the case of achalasia. Females with achalasia seemed to be significantly affected by lower OHRQoL than males with achalasia and women of the general population. Demineralization of the tooth structure was described in two participants.

Background: The aim of this study was to analyze data on oral health-related quality of life (OHRQoL) in people with Marfan syndrome and to obtain information on the diagnosis period, orthodontic treatment, and oral symptoms. Methods: A questionnaire was developed consisting of open questions and the standardized German version of the OHIP-14 (Oral Health Impact Profile) questionnaire for the evaluation of OHRQoL. The age of diagnosis, time period from the first signs of the disease to diagnosis, and OHIP-values were compared between male and female participants. Additionally, the OHIP-values between participants who were orthodontically treated and those who were not treated were assessed. The statistical analysis was performed using the Mann&ndash, Whitney test with a significance level at p = 0.05. Results: A total of 51 questionnaires were evaluated, which included 34 female and 17 male participants. Overall, 84% of respondents reported oral symptoms. Male respondents tended to diagnose the disease earlier (p = 0.00), with a smaller period between the first symptom and the diagnosis (p = 0.04). The OHIP-14 score was gender-neutral at 13.65 &plusmn, 13.53 points. Conclusion: In Marfan syndrome, many years (12.01 &plusmn, 11.61) elapse between the onset of first symptoms and correct diagnosis of the disease. People with Marfan syndrome have a worse OHRQoL than do the general population.

Background: The aim of this study was to examine the current dental care situation in Germany from the perspective of those affected by a rare disease, especially concerning their satisfaction with the German dental health care system, and thus assess the relationship between their perspective and their oral health-related quality of life (OHRQoL). Methods: A questionnaire regarding their experiences with the dental assistance and the health care system, such as the OHIP-14, was sent to the member associations of the organization of self-help groups for rare diseases ACHSE e.V. The correlation between OHIP-14 values and patient&rsquo, s perspective was statistically analyzed by the non-parametric Tau de Kendall test (p &lt, 0.05). Results: There was a statistically significant correlation between the OHIP score and the patient&rsquo, s perspective regarding dental assistance and health care system (p &lt, 0.05). For those surveyed who were satisfied with the support of the health care system, an average OHIP score of 8.54 &plusmn, 10.45 points (range: 0&ndash, 48) was determined. The group that did not feel sufficiently supported by the health care system had an average OHIP score of 16.07 &plusmn, 13.43 points (range: 0&ndash, 56). Discussion: The majority of respondents with rare diseases are dissatisfied with the German health care system and its support with regard to dental care.

Background: The aim of this study was to collect information on oral health-related quality of life (OHRQoL) in people with rare diseases. Methods: A questionnaire comprising free text questions and the German version of the standardized Oral Health Impact Profile-14 (OHIP-14) questionnaire on OHRQoL was developed. All participants who indicated oral symptoms in the questionnaire were included in a cluster analysis. Different cluster analyses were performed (Ward&rsquo, s, k-Means) to find symptom profile groups in the data. Results: A total of 484 questionnaires with 96 rare diseases were included in the study. The most reported symptoms were anomalies of the tooth formation, dysgnathia, changes in number of the teeth, and malocclusions. The OHIP mean values of the five resulting symptom clusters ranged from 15.1 to 19.9, which is very high compared to the general population in Germany, which has a mean value of 4.09. Discussion: All investigated symptoms show a negative association with OHRQoL, but the strongest were for symptoms of the oral mucosa and periodontal diseases. All the symptoms described in this cluster analysis can lead to considerably higher mean values of the OHIP total score among people with rare disease and thus to worse OHRQoL than reported in the general population.