Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.

Cafe-au-lait macules are the most distinctive clinical finding in neurofibromatosis type I. The aim of this prospective study of Greek children diagnosed with neurofibromatosis type I was to describe the dermatological phenotype and to analyse the characteristics of cafe-au-lait macules and their association with genotype. Pigment intensity and melatonin content of cafe-au-lait macules were measured with a narrowband spectrophotometer. A total of 63 children aged 6 months to 16 years old were studied. Mean melanin content varied, both among patients, and within each patient (p < 0.001). Females had a higher number of cafe-au-lait macules than did males (p = 0.025), and the melanin content of cafe-au-lait macules was lower in females than males (p < 0.001). Patients with protein-truncating variants in the neurofibromatosis type I gene had higher melanin content of cafe-au-lait macules than other types of genetic variants t (55) = 2.196, p = 0.032. Plexiform neurofibromas were also detected in the majority of patients with protein- truncating variants, while juvenile xanthogranulomas were detected equally in patients with protein-truncating and non-protein-truncating variants. In conclusion, cafe-au-lait macules with high melatonin content are associated with patients carrying non-protein-truncating variants. Therefore, measurement of cafe-au-lait macule pigment intensity might provide useful information for initial assessment of patients with neurofibromatosis type I and the severity of their future phenotype.

CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.

CHILD syndrome is a rare X-linked dominant condition that presents with congenital hemidysplasia, Ichthyosiform erythroderma, and limb defects in affected patients. We report the case of a 10-year-old girl treated with topical simvastatin and cholesterol ointment, after which her skin lesions significantly improved within the first 30 days of treatment.

In Vitro Propagation of Origanum scabrum (Boiss. & Heldr.): An Endemic Medicinal Plant of Greece.

The aim of the study was to develop an efficient micropropagation protocol of Origanum scabrum, which will allow its commercial exploitation in the pharmaceutical and horticultural industries. First, the effect of the date of the explant collection (20 April, 20 May, 20 June, 20 July, 20 August) and the position of the explant on the plant stem (shoot apex, 1st node, 3rd node, 5th node) on the establishment of in vitro cultures was studied (1st experiment: Stage I). Next, the effect of temperature (15 °C, 25 °C) and the node position (microshoot apex, 1st node, 5th node) on the microplant production and ex vitro survival of plantlets was studied (2nd experiment: Stage II). The optimum season to collect explants from wild plants was shown to be during the vegetative growth of the plants (April to May), while the shoot apex and the 1st node were the most suitable explants. For the proliferation and production of rooted microplants, the best results were obtained from single-node explants excised from microshoots produced from 1st node-explants collected on 20th of May. Temperature did not affect microshoot number, leaf number and the percentage of rooted microplants, while microshoot length was higher at 25 °C. Moreover, microshoot length and the percentage of rooted microplants were higher in those derived from apex explants, while the survival of plantlets was not affected by treatments and ranged between 67% and 100%.

The powerful Solanaceae: Food and nutraceutical applications in a sustainable world.

The Solanaceae family is considered one of the most important families among plant species because, on one hand encompasses many staple food crops of the human diet while, on the other hand, it includes species rich in powerful secondary metabolites that could be valorized in medicine or drug formulation as well as nutraceuticals and food supplements. The main genera are Solanum, Capsicum, Physalis, and Lycium which comprise several important cultivated crops (e.g., tomato, pepper, eggplant, tomatillo, and goji berry), as well as genera notable for species with several pharmaceutical properties (e.g., Datura, Nicotiana, Atropa, Mandragora, etc.). This chapter discusses the nutritional value of the most important Solanaceae species commonly used for their edible fruit, as well as those used in the development of functional foods, food supplements, and nutraceuticals due to their bioactive constituents. The toxic and poisonous effects are also discussed aiming to highlight possible detrimental consequences due to irrational use. Finally, considering the high amount of waste and by-products generated through the value chain of the main crops, the sustainable management practices implemented so far are presented with the aim to increase the added-value of these crops.

Treatment of alopecia totalis/universalis/focalis with vitamin D and analogs: Three case reports and a literature review.

BACKGROUND: Alopecia areata (AA) is an inflammatory disease with autoimmune, environmental, and inherited components directed at the hair follicle, either limited to patchy hair loss over the scalp (Focalis, AF), total loss of scalp hair (Totalis, AT), or total loss of both scalp and body hair (Universalis, AU). Despite multiple treatment modalities, no therapy exists. Vitamin D deficiency in patients with AA/AT/AF influences disease severity and duration, inversely correlating with inflammation histologically. CASE SUMMARY: Three girls presented with AT (P1), AU (P2), and AF (P3) at the ages of 1, 5, and 5 years, respectively. For P1-P2, all available treatments implemented for 2 years had failed. We started an initial 6-mo repletion with oral cholecalciferol 2000/4000 IU/d, with no apparent effect. Then we attempted immunomodulation using oral calcitriol and its analog paricalcitol. On calcitriol, 0.5 mcg/d P1 regrew hair within 6 mo. After 4 years, a relapse with loss of eyebrow hair was resolved after doubling the calcitriol dose to 0.5 mcg × 2/d; the results have been maintained for 6 years to date. On calcitriol, 0.25 mcg × 3/d P2 led to the development of asymptomatic hypercalcemia-hypercalciuria, which was immediately resolved by switching to paricalcitol 2 mcg × 3/d; mild tolerable hypercalciuria was maintained. Hair regrowth was observed at 6 mo, stabilizing only as fur at 12 mo. AF in P3 was resolved completely within 3 mo on a daily high dose (8000 IU) of cholecalciferol. CONCLUSION: Vitamin D may have immunomodulating therapeutic impact on AT/AU/AF, which needs to be explored with further pilot clinical trials.

Potato biodiversity: A linear discriminant analysis on the nutritional and physicochemical composition of fifty genotypes.

Fifty potato genotypes from twenty-four different countries of origin, four different flesh colours (yellow, purple, red and marble) and different cultivation types (Andean accessions, landraces, breeder lines and cultivated varieties) were studied in terms of their nutritional and physicochemical characteristics. In general, cultivated varieties and breeder lines showed the highest similarity (slight differences only in some particular fatty acids distributions: C10:0, C12:0 and C22:0) concerning the physicochemical parameters assayed in this work, independently of the geographical origin or tuber flesh colour of these genotypes. Nonetheless, some of the studied landraces and Andean accessions proved to be similar enough to be considered as genotypes with good potential for commercial cultivation. These results can contribute to the supply of new potato genotypes into sustainable farming systems, supporting the protection of potato biodiversity, particularly Andean accessions, landraces and coloured genotypes (red or purple flesh) which are not widely cultivated so far.

Phenolic composition and cell-based biological activities of ten coloured potato peels (Solanum tuberosum L.).

The present study provides an in-depth characterisation of the non-anthocyanin and anthocyanin phenolic compounds of potato peels from ten coloured potato varieties. Furthermore, the underexplored bioactive potential (antioxidant, cytotoxic and anti-inflammatory capacities) of the studied peels is comprehensively analysed. Among non-anthocyanin phenolics, caffeic and a caffeoylquinic acid were found in the highest concentrations in all samples, which also showed the presence of O-glycosylated flavonol derivatives and polyamine derivatives. Acylated anthocyanins were identified in red and purple varieties, being pelargonidin, peonidin, and malvidin the most prominent aglycones. All samples revealed antioxidant and antitumor activities, and no toxic effect. The extract of the Rosemary variety presented the best antioxidant and antitumor outcomes and was the only sample to reveal anti-inflammatory activity. These results are valuable for the food-industry by adding value to an important bio-residue, particularly concerning its potential as natural ingredients in novel food and pharmaceutical formulations.

Anthocyanin-rich extracts from purple and red potatoes as natural colourants: Bioactive properties, application in a soft drink formulation and sensory analysis.

Aqueous extracts from seven coloured potato varieties (three red-fleshed, three-purple fleshed, and one marble-fleshed) were studied for their anthocyanin content, in vitro biological activities, colouring properties and their potential application in the food industry. Acylated glycosides or pelargonidin and petunidin aglycones were identified as the main anthocyanin forms in the red and purple varieties, respectively. The total anthocyanin content among varieties ranged from 478.3 to 886.2 mg/100 g extract. All the extracts presented in vitro antioxidant, antibacterial and antifungal activities, whereas no toxic effects were detected. Finally, two selected extracts were tested as colourants in a soft drink formulation and presented suitable sensory profiles as well as high colour stability during a 30-day shelf-life when compared with the commercial colourant E163. Therefore, the tested extracts could be used as natural food colourants and considered for substituting the existing synthetic colouring agents.

Pediatric vasculitis: a single center experience.

BACKGROUND: Existing studies of children with vasculitis are limited. The aim of this study was to assess the epidemiology, clinical manifestations, laboratory findings, course, and outcome of Greek children presenting with vasculitic rash. METHODS: The relevant data included in the study were collected retrospectively using a standardized form from children who were admitted into our department between 2003 and 2013, with the provisional diagnosis of vasculitis of the skin. RESULTS: The study sample consisted of 95 children (58 boys, 37 girls) with a mean age of 5.9 years. In total, 76 out of 95 (80%) of the children were diagnosed with Henoch-Schönlein purpura, 10/95 (10.5%) with hypersensitivity vasculitis, 6/95 (6.3%) with urticarial vasculitis, and 3/95 (3.1%) with acute hemorrhagic edema of infancy. The mean age of the children was 5.7 years for Henoch-Schönlein purpura, 9 years for hypersensitivity vasculitis, 5.1 years for urticarial vasculitis, and 0.5 years for acute hemorrhagic edema of infancy. CONCLUSIONS: (i) The most common vasculitis presenting with skin rash in children is Henoch-Schönlein purpura; (ii) hypersensitivity vasculitis occurs in older children more often when compared to other types of vasculitis; (iii) urticarial vasculitis lesions may be a sign of severe underlying disease; therefore a thorough examination of these patients is warranted; (iv) Despite relapses, the overall prognosis of patients with pediatric skin vasculitides is good, with the exception of those with the urticarial vasculitis type.