Hair depigmentation is very rare presentation of cystic fibrosis (CF). We present 3.5-month-old female patient who had dermatitis and depigmentation of hair and eye lashes, malnutrition, edema and anemia as presenting symptoms of CF. After pancreatic enzyme and vitamin supplementation therapy, skin changes gradually disappeared, and her hair regained its normal brown colour
Study was focused on effect of silicon (Si) on growth and nutritional status of sunflower (Helianthus annuus L.) under low boron (B) external supply. Plants were grown under controlled environmental conditions in nutrient solutions with two low B treatments (0.2 μM B and 0.5 μM B) with or without addition of Si and control treatment containing sufficient B supply. Shoots growth was only slightly affected by Si supply while accumulation of B in fully developed leaves was significantly higher only at 0.5 μM B. In roots, nutrients contents were relatively constant, while accumulation of all nutrients in leaves was affected by addition of Si. Differences were significant only in K, Fe and Mo between treatments 0.5 μM B and 0.5 μM B with Si added and in Zn between both treatments. In comparison with other studies, results confirmed that plant species show different response to Si application. Interaction of B and Si should be involved in further research in B deficiency in sunflower.
A study on the morphological variability and ecological differentiation among the species in the genus Daphne was carried out which included seven species from the Balkan Peninsula: Daphne mezereum, D. laureola, D. alpina, D. oleoides, D. malyana, D. cneorum and D. blagayana. In the Balkan Peninsula, the ranges of the species in this genus overlap, which does not occur anywhere else in Europe. Descriptive statistics were measured for 20 quantitative characters of the leves and stems. A comparative analysis of the morpho-anatomical adaptations of these species shows that: D. cneorum, D. malyana and D. oleoides belong to the adaptive type of xerophytes; D. alpina is a xeromesophyte; D. blagayana and D. laureola are mesoxerophytes; and D. mezereum is a mesophyte. Principal component analysis shows the largest contribution to the formation of the variability between the different species is made by characters that are related to leaf shape (leaf length, distance between the largest leaf width and the leaf top, largest width of the leaf, leaf surface area), followed by surface area of abaxial stomata, stem characters (stem cortex thickness and stem diameter) and leaf anatomy characters (thickness of the palisade tissue, thickness mesophyll, number of palisade layers). These features can use to discriminate among the seven studied species, suggesting that leaves and stems of Daphne can represent a source for taxonomically useful characters. Canonical discriminant analysis and the clustering method based on Mahalanobis distances shows that there is significant morphological differentiation among the species studied. The results show that various combinations of morphological and anatomical features contribute to the adaptive capacity of plants to different degrees. The morpho-anatomical features found in all seven species agree with previous infrageneric taxonomic classifications of this genus.
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All patients had defined DMD gene deletions or duplications [multiplex ligation- dependent probe amplification (MLPA), polymerase chain reaction (PCR)] and cognitive status assessment (Wechsler Intelligence Scale for Children, Brunet-Lezine scale, Vineland-Doll scale). In 37 patients with an estimated full scale intelligence quotient (FSIQ), six (16.22%) had borderline intelligence (70<FSIQ ≤85), while seven (18.92%) were intellectually impaired (FSIQ <70). The FSIQ was not associated with proximal and distal mutations when boundaries were set at exons 30 and 45. However, FSIQ was statistically significantly associated with mutation location when we assumed their functional consequence on dystrophin isoforms and when mutations in the 5’-untranslated region (5’UTR) of Dp140 (exons 45-50) were assigned to affect only Dp427 and Dp260. Mutations affecting Dp140 and Dp71/Dp40 have been associated with more frequent and more severe cognitive impairment. Finally, the same classification of mutations explained the greater proportion of FSIQ variability associated with cumulative loss of dystrophin isoforms. In conclusion, cumulative loss of dystrophin isoforms increases the risk of intellectual impairment in DMD and characterizing the genotype can define necessity of early cognitive interventions in DMD patients.