This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR ...C677T genotype were analyzed in 147 subjects with DS. For 77 subjects, metabolite levels were correlated with cognitive tests. Griffiths-III test was administered to 28 subjects (3.08-6.16 years) and WPPSI-III test was administered to 49 subjects (7.08-16.08 years). Significant correlations were found among some metabolite levels and between homocysteine levels and MTHFR C677T genotype. Moreover, homocysteine, UA and creatinine levels resulted increased with age. We did not find any correlation between metabolites and cognitive test score in the younger group. Homocysteine showed statistically significant correlation with WPPSI-III subtest scores when its level is ≥ 7.35 µmol/L, remaining correlated in higher thresholds only for non-verbal area scores. Vitamin B12 showed correlations with all WPPSI-III subtest scores when its level is < 442 pg/mL. The relevance of the present findings is the detection of a specific metabolite threshold related with a better or worse cognitive score, suggesting that vitamin B12 and homocysteine may have a role in cognitive development in children with DS.
L'idea di bellezza nell'Islam non può prescindere dalla Rivelazione, punto di riferimento per tutto. C'è una bellezza creata da Dio, lo stesso corpo umano è creazione divina per cui il suo aspetto ...esteriore esige rispetto, ed una bellezza creata dall'uomo che si esprime nella creazione di opere artistiche. Il canone estetico, di conseguenza, varia a seconda che il criterio sia strettamente religioso o profano, come nel caso della poesia e delle arti destinate al godimento privato. Il piacere prodotto dalla bellezza femminile, da un oggetto artistico, dalla parola, deriva dalla sua armonia, da un sistema di proporzioni fondato sull'equilibrio delle varie parti anche se spesso l'accento è posto sul dettaglio. L'assoluta unicità di Dio lascia poco spazio alle arti figurative, attribuendo grande importanza a forme artistiche più specifiche dell'Islam, prima fra tutte la calligrafia.
Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both intellectual and adaptive functioning. According to this, ...individuals with Down Syndrome (DS) reach developmental milestones (e.g., sitting, walking, and babbling) in the same order as their typically developing peers, but later in life. Since developmental milestones are the first blocks on which development builds, the aims of the current study are to: (i) expand the knowledge of developmental milestone acquisition; and (ii) explore the relationship between developmental milestone acquisition and later development. For this purpose 105 children/adolescents with DS were involved in this study, divided in two groups, Preschoolers (
= 39) and School-age participants (
= 66). Information on the age of acquisition of
and
was collected, together with cognitive, motor, and adaptive functioning.
predicted later motor development, but, with age, it became less important in predicting motor development in everyday life.
predicted later language development in older children. Finally,
emerged as the strongest predictor of motor, cognitive, language, and adaptive skills, with its role being more evident with increasing age. Our data suggest that the age of reaching the milestones considered in the study has an influence on successive development, a role that can be due to common neural substrates, the environment, and the developmental cascade effect.
Abstract Amyotrophic Lateral Sclerosis (ALS) is a degeneration of somatic motor neurons extending from upper motor cortical pyramidal neurons to lower motor neurons of the brainstem and cord. During ...the course of the disease patients require invasive procedures for nutrition and ventilation. Percutaneous Endoscopic Gastrostomy (PEG), performed in patients with impaired swallowing, is a safe procedure for the administration of Enteral Nutrition (EN). In the advanced stages of the disease patients develop a ventilatory failure due to muscolar weakness in these case they need a permanent tracheal tube with mechanical ventilation. Here we reported a case of a patient with Amyotrophic Lateral Sclerosis (ASL) who developed an increased gastric endocavitary pressure after a Percutaneous Endoscopic Gastrostomy (PEG).
The idea of beauty in Islam rests on the Revelation, a landmark for everything. There is a beauty created by God, the very human body is a divine creation and, as such, its outward appearance ...requires respect, and a beauty created by man which reveals itself in the creation of works of art. Consequently, the aesthetic canon applied to a religious work cannot be the same of a secular one, as in the case of poetry or arts reserved to a private pleasure. The delight produced by feminine beauty, by a work of art, by words, comes from its harmony, by a system of proportions based on the balance of the various parts even if the emphasis is often laid on a detail. The absolute uniqueness of God leaves little space to figurative arts, giving great importance to artistic forms which are specific to Islam, first of all calligraphy. Keywords: Corano, donna, poesia, arte, natura; Quran, woman, poetry, art, nature. L'idea di bellezza nell'Islam non puo prescindere dalla Rivelazione, punto di riferimento per tutto. C'e una bellezza creata da Dio, lo stesso corpo umano e creazione divina per cui il suo aspetto esteriore esige rispetto, ed una bellezza creata dall'uomo che si esprime nella creazione di opere artistiche. Il canone estetico, di conseguenza, varia a seconda che il criterio sia strettamente religioso o profano, come nel caso della poesia e delle arti destinate al godimento privato. Il piacere prodotto dalla bellezza femminile, da un oggetto artistico, dalla parola, deriva dalla sua armonia, da un sistema di proporzioni fondato sull'equilibrio delle varie parti anche se spesso l'accento e posto sul dettaglio. L'assoluta unicita di Dio lascia poco spazio alle arti figurative, attribuendo grande importanza a forme artistiche piu specifiche dell'Islam, prima fra tutte la calligrafia.
Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with ...DS have a specific plasma and urinary metabolomic profile. In this work we confirmed the alteration of mitochondrial metabolism in DS and also investigated if metabolite levels are related to cognitive aspects of DS. We analyzed the metabolomic profiles of plasma samples from 129 subjects with DS and 46 healthy control (CTRL) subjects by
H Nuclear Magnetic Resonance (NMR). Multivariate analysis of the NMR metabolomic profiles showed a clear discrimination (up to 94% accuracy) between the two groups. The univariate analysis revealed a significant alteration in 7 metabolites out of 28 assigned unambiguously. Correlations among the metabolite levels in DS and CTRL groups were separately investigated and statistically significant relationships appeared. On the contrary, statistically significant correlations among the NMR-detectable part of DS plasma metabolome and the different intelligence quotient ranges obtained by Griffiths-III or WPPSI-III tests were not found. Even if metabolic imbalance provides a clear discrimination between DS and CTRL groups, it appears that the investigated metabolomic profiles cannot be associated with the degree of ID.
La pittura islamica e in particolare l’illustrazione dei manoscritti, opere a circolazione limitata e prevalentemente privata, ha avuto una notevole diffusione godendo del patrocinio delle corti. ...Alcune pitture, soprattutto quelle che illustrano l’Ascensione celeste del profeta Muhammad (mi’râj), ma anche le Storie dei Profeti, pitture datate al XIV e XV secolo, rappresentano l’uno e gli altri col volto scoperto. Solo relativamente tardi, in particolare nel mondo iranico, ma anche presso gli ottomani o i Moghul dell’India, il volto del Profeta diventa una convenzione iconografica. Un versetto coranico afferma che Dio parla all’uomo o per Rivelazione o dietro a un velame. Per questo nell’iconografia della pittura islamica si constata che il Profeta o altri personaggi possono figurare con il volto coperto da un velo. Questo segno di rispetto, col tempo, si trasformerà in parola e il sembiante del Profeta sarà reso calligraficamente. Islamic painting and particularly miniature painting illustrating manuscripts, books restricted to few people and for personal use, had a considerable circulation thanks to the patronage of courts. Some paintings, chiefly those illustrating the heavenly Ascent of the prophet Muhammad (mi’râj), but also Histories of Prophets, paintings dated to the XIV and XV century, show him and the others barefaced. Only fairly later, particularly in the iranian world, but also among Ottomans or the Moghuls of India, the face of the Prophet becomes an iconographic convention. According to a Koranic verse God speaks to man either through Revelation of behind a veil. For this reason in the iconography of islamic painting the Prophet or other people may appear with the face covered by a veil. This sign of respect, in the course of time, changed and the countenance of the Prophet was rendered in words, that is calligraphically.
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