Natalie Garcia Bartels’s research while affiliated with Charité Universitätsmedizin Berlin and other places

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Publications (77)


Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
  • Article

August 2022

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191 Reads

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14 Citations

JAMA Dermatology

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Regina C. Betz

Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective: To elucidate the genetic spectrum of UHS. Design, setting, and participants: This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main outcomes and measures: Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and relevance: This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.


Fig. 1. Stratum corneum hydration values on the forehead, forearm, and leg from baseline to week 16. In all three investigational areas, stratum corneum hydration levels were higher at the end of the study compared with those at baseline with increasing values until week 12. On the leg, a decline was noted at week 16. On the forearm, an increase in week 4 followed by a slight decrease in week 12 was observed. (o, outliers). 
Table 1 Baseline characteristics of participants
Fig. 2. Transepidermal water loss values on the forehead, forearm, and leg from baseline to week 16. When comparing week 16 with baseline, the values remained stable in all investigational areas. On the forehead, decreasing values with a significant drop at week 4 were observed. (o/* outliers). 
Table 2 Modified daily dosage and application mode of emollients on body surface
Fig. 3. Skin surface potential of hydration on the forehead, forearm, and leg from baseline to week 16. Until week 12, a decline was observed on the forehead and forearm. When comparing week 4 and week 12, a significant drop was noted in all areas. On the forehead, values were significantly lower at week 16 compared with those at baseline. (o, outliers). 

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Noninvasive monitoring of plant-based formulations on skin barrier properties in infants with dry skin and risk for atopic dermatitis
  • Article
  • Full-text available

June 2018

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383 Reads

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6 Citations

International Journal of Women’s Dermatology

Background: Dry skin and the associated impaired epidermal barrier function are postulated to constitute a major element in the development of atopic dermatitis. Objective: The aim of this study was to evaluate the effect of two plant-based formulations on the epidermal barrier function in a defined cohort of infants with a predisposition for atopic dermatitis. Methods: Over a period of 16 weeks, 25 infants who were ages 3 to 12 months and had an atopic predisposition and dry skin received two emollients that contained pressed juice of the ice plant. The infants received both cream and lotion on the forearm, only cream on the face, and only lotion on the leg. Stratum corneum hydration (SCH), transepidermal water loss (TEWL), skin surface pH, and sebum were assessed on the infants’ forehead, leg, and forearm. The Scoring Atopic Dermatitis (SCORAD) index was used for the clinical assessment. Results: SCH significantly increased in all body regions that were assessed. The forearm and leg revealed stable levels of pH and TEWL, but a decline in pH (week 16) and TEWL (week 4) was noted on the forehead. At week 16, sebum levels were lower on the forehead compared with those at baseline. SCORAD scores improved significantly during the study. Conclusion: A daily application of both emollients was associated with increased SCH levels and a stable course of TEWL, pH, and sebum on the forehead except for the forehead when compared with the forearm and leg. Clinically, improved SCORAD scores were noted.

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Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

October 2017

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103 Reads

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23 Citations

Journal of Investigative Dermatology

Alopecia areata (AA) is one of the most common forms of human hair loss. Although genetic studies have implicated autoimmune processes in AA etiology, understanding of the etiopathogenesis is incomplete. Recent research has implicated microRNAs, a class of small noncoding RNAs, in diverse autoimmune diseases. To our knowledge, no study has investigated the role of microRNAs in AA. In this study, gene-based analyses were performed for microRNAs using data of the largest genome-wide association meta-analysis of AA to date. Nominally, significant P-values were obtained for 78 of the 617 investigated microRNAs. After correction for multiple testing, three of the 78 microRNAs remained significant. Of these, miR-30b/d was the most significant microRNA for the follow-up analyses, which also showed lower expression in the hair follicle of AA patients. Target gene analyses for the three microRNAs showed 42 significantly associated target genes. These included IL2RA, TNXB, and ERBB3, which had been identified as susceptibility loci in previous genome-wide association studies. Using luciferase assay, site-specific miR-30b regulation of the AA risk genes IL2RA, STX17, and TNXB was validated. This study implicates microRNAs in the pathogenesis of AA. This finding may facilitate the development of future treatment strategies.





Prevalence and associated factors of skin diseases in aged nursing home residents: A multicentre prevalence study

September 2017

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204 Reads

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69 Citations

Objectives The aim of this study was to measure the prevalence of skin diseases in aged nursing home residents and to explore possible associations with demographic and medical characteristics. Design Descriptive multicentre prevalence study. Setting and participants The study was conducted in a random sample of ten institutional long-term care facilities in the federal state of Berlin, Germany. In total, n=223 residents were included. Results In total, 60 dermatological diseases were diagnosed. The most frequently diagnosed skin disease was xerosis cutis (99.1%, 95% CI 97.7% to 100.0%) followed by tinea ungium (62.3%, 95% CI 56.0% to 69.1%) and seborrheic keratosis (56.5%, 95% CI 50.2% to 63.0%). Only few bivariate associations have been detected between skin diseases and demographic and medical characteristics. Conclusion Study results indicate that almost every resident living in residential care has at least one dermatological diagnosis. Dermatological findings range from highly prevalent xerosis and cutaneous infection up to skin cancer. Not all conditions require immediate dermatological treatment and can be managed by targeted skin care interventions. Caregivers need knowledge and diagnostic skills to make appropriate clinical decisions. It is unlikely that specialised dermatological care will be delivered widely in the growing long-term care sector. Trial registration number This study is registered at https://clinicaltrials.gov/ct2/show/NCT02216526.



The effectiveness of standardized skin care regimens on skin dryness in nursing home residents: A randomized controlled parallel-group pragmatic trial

February 2017

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750 Reads

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41 Citations

International Journal of Nursing Studies

Background: Aged residents of institutional long-term care facilities are at high risk for developing skin and tissue diseases. Besides various common skin problems, dry skin (xerosis cutis) is one of the most frequent skin conditions in this setting. Objectives: To investigate the effectiveness of two structured skin care regimens in comparison to routine skin care on xerosis cutis in nursing home residents. Design: A multi-center, pragmatic, randomized, controlled, investigator blinded study with three parallel groups. Settings: The study was conducted in a random sample of ten out of 291 institutional long-term care facilities of the federal state of Berlin, Germany. Participants: Long-term care residents being 65+ years affected by dry skin were included. Methods: The residents were allocated into one of three study groups. Two interventional groups used standardized skin care regimens, consisting of a body wash and twice daily applications of leave-on products for eight weeks. The third control group performed skin care as usual. All participating residents were examined at baseline and after 4 and 8 weeks. Xerosis cutis was measured with the Overall Dry Skin score. Instrumental skin barrier measurements were performed at baseline and after 8 weeks. Diaries were used to document washing and skin care frequencies. Results: In total, 133 residents were included and allocated to one of the three groups. Mean age was 83.8 (SD 8.3) years, 65.4% were female and most residents had care levels I (42.9%) or II (42.9%) according to the German Social Code Book XI. Mean Barthel score was 46.8 (SD 24.2) and mean Braden score was 17.6 (SD 3.7). Leg skin areas were drier compared to arms and trunk areas. At the end of the study the Overall Dry Skin scores in the intervention groups were lower compared to the control group. There were statistically significant improvements of skin dryness in both intervention groups compared to the control group over time. Conclusions: The results of this pragmatic trial indicate that structured skin care regimens are effective in reducing skin dryness in aged nursing home residents within eight weeks. Trial registration: The study is registered at https://clinicaltrials.gov/ct2/show/NCT02216526.


Citations (49)


... UHS skyldes sygdomsfremkaldende varianter i generne PADI3, TCHH og TGM3. Disse gener koder for proteiner, der er involveret i dannelsen af hårskaftet [3]. Et stort kohortestudie fra 2022 konkluderede, at UHS oftest skyldtes sygdomsfremkaldende varianter i PADI3, og at disse sandsynligvis er nedarvet fra en faelles forfader (founder mutation) [3]. ...

Reference:

Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
  • Citing Article
  • August 2022

JAMA Dermatology

... Under the European Council Directive 76/768/EEC, a cosmetic includes any substance or mixture of substances manufactured, sold or represented for use in cleansing, improving, or altering the skin, hair, lips, nails or teeth (Bocca et al., 2014). Some of the products used by the populace that stipulate this definition include skin-care creams, lotions, powders and sprays, facial makeup, permanent waves, hair colours, deodorants, baby products, bath and shower oils and creams, toothpaste, sunscreens etc. Dry skin and the associated impaired epidermal barrier function are postulated to constitute a major element in the development of atopic dermatitis (Lünneman et al., 2018). The major characteristic of dry skin is the reduced water content in the stratum corneum which entails abnormal enzymic and mechanical properties (Rawlings and Matts, 2005). ...

Noninvasive monitoring of plant-based formulations on skin barrier properties in infants with dry skin and risk for atopic dermatitis

International Journal of Women’s Dermatology

... Als Off-Label-Therapie steht mit Clofazimin ein weiteres Medikament aus der Lepratherapie zur Behandlung zur Verfügung [1,12]. Des Weiteren wird eine erhöhte Produktion von Tumornekrosefaktor (TNF)α für möglich gehalten, was eine erfolgreiche Therapie mit Infliximab in einem Fallbericht mit Assoziation zu Morbus Crohn untermauert [13]. ...

Erfolgreiche Behandlung einer Cheilitis granulomatosa mit Infliximab bei Kindern: Korrespondenz
  • Citing Article
  • December 2017

Journal der Deutschen Dermatologischen Gesellschaft

... AA is an autoimmune condition mediated by T cells, resulting in sudden and often patchy hair loss, while AGA is driven by androgens and typically manifests as a progressive thinning of hair in a characteristic pattern [1][2][3][4][5][6][7]. Despite their differing etiologies, recent research has highlighted common underlying molecular pathways, particularly involving the dysregulation of microRNAs (miRNAs) and key cellular signaling molecules [8][9][10][11][12]. ...

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata
  • Citing Article
  • October 2017

Journal of Investigative Dermatology

... 4 The associated triad of granulomatous cheilitis, peripheral facial palsy and plicated tongue is referred to as Melkersson-Rosenthal syndrome (MRS). Although numerous treatment options have been described in case reports and small series, [1][2][3]5,6 there is a lack of standardized treatment recommendations and longterm observational data. We performed a study aiming to (i) characterize clinical baseline parameters in a large cohort of patients, (ii) assess disease-related functional and psychological impairment, and (iii) evaluate treatment strategies and long-term outcomes. ...

Successful treatment of childhood cheilitis granulomatosa with infliximab
  • Citing Article
  • October 2017

Journal der Deutschen Dermatologischen Gesellschaft

... Secondly, age-related physiological changes, such as decreased renal function and altered drug metabolism, can affect the pharmacokinetics and pharmacodynamics of Lifitegrast, making elderly patients more susceptible to AEs. For example, reduced renal clearance in older adults may lead to increased drug accumulation, potentially exacerbating skin conditions like psoriasis and acne [39]. Additionally, cognitive decline in the elderly may impact their medication adherence, as they might forget to take their medication or take it incorrectly, further contributing to more AEs [40]. ...

Prevalence and associated factors of skin diseases in aged nursing home residents: A multicentre prevalence study

... Захворювання має багатофакторний характер, що передбачає комплексну взаємодію генетичних особливостей організму й екзогенних впливів. ГА має генетичну основу з низьким ступенем пенетрантності в сім'ях [31,32]. Близько 20% осіб із ГА мають позитивний сімейний анамнез. ...

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study

Acta Dermato-Venereologica

... After three months application of either study products, there was an increase of SCH, both on the forearms and the lower leg indicating skin barrier enhancing properties of both lipophilic leave-on products. The size of the group differences was similar to previous studies using leave-on products to treat dry skin [23]. The TEWL did not show major changes after three months of product application. ...

The effectiveness of standardized skin care regimens on skin dryness in nursing home residents: A randomized controlled parallel-group pragmatic trial
  • Citing Article
  • February 2017

International Journal of Nursing Studies

... 9 Protective emollients provide a thin film of lipid on the skin, preventing the direct impact of irritants like urine and feces on the skin. [10][11][12] It also supplies lipid, which is beneficial to repairing the stratum corneum. 6,13 This study is the first to compare the skin hydration levels of the napkin area of cases with ND and controls without ND in Nigeria. ...

Influence of sunflower seed oil or baby lotion on the skin barrier function of newborns: A pilot study
  • Citing Article
  • January 2017

... Unfortunately, all current and even emerging treatment options are intended to ease one or several clinical symptoms often in association with other therapies including saline nasal washes, topical or oral antibiotics, nasal decongestants, steroids and anti-inflammatory drugs [13]. New emerging options include antimycotics, anti-IgE, anti-IL5, new antihistamines, complementary and alternative medicine, immunosuppressant medications, leukotriene inhibitors, phytotherapy, probiotics and proton pump inhibitors [15][16][17][18][19][20][21][22]. Despite such abundance of treatments available one wonders why none of them is really working and why even today, we don't have a cure for CRS. ...

4th Pediatric Allergy and Asthma Meeting (PAAM)