Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation

Objective Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype–phenotype correlation. Material/participants Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis. Methods General and neurological examination was performed for all affected family members and asymptomatic mutation carriers. The molecular analysis encompassed GCH1 and PARK2 genes. Results All probands were clinically diagnosed with DRD. The molecular analysis revealed, however, that the dopa-responsive dystonia phenotype was caused by a mutation in the GCH1 gene in three families and in the PARK2 gene in one family. Obtained results allowed to establish the final diagnosis for all families as DYT5a or early-onset Parkinson disease (EO-PD). Conclusions Reported cases confirm that the DRD phenotype may have heterogeneous genetic background and may be caused by point mutations or rearrangements in the GCH1 gene as well as in the PARK2 gene. Differential diagnosis and genetic tests covering the analysis of genes causative for DRD and EO-PD should be obligatory in both disorders diagnostics as DRD, mainly adolescent onset dystonia, may be associated with parkinsonism

THE DEVELOPMENT OF MONASTIC GARMENTS IN EARLY MONASTICISM (IIITH-VITH CENTURIES). ADAPTATION OF SECULAR FORMS OF CLOTHING. PART 1

The article contains a brief presentation of the development of monastic clothing forms in the eastern monasticism (IIIth-VIth centuries). The analysis is based on the early Christian literature which constitutes the basis for the recon-struction of the garment. It also indicates its origins . The form of the habit derives from widely used repertoire of secular clothing. The texts of first monastic rule of St. Pachomius and the ascetic writings included in the dissertation have been supplemented with iconographic material that illustrates the process of adaptation of secular forms of clothing to the requirements of monastic life as well as its transformation stages. The analysis embraces women’s and men’s clothing together with certain aspects of the symbolism of habit

„Objaśnienie o sukience…” Historia i symbolika habitu karmelitańskiego w polskich klasztorach żeńskich

The habit of the Carmelite Nuns of the Ancient Observance, formed on the basis of their constitutions of 1482, combined forms borrowed from the habit of the Carmelite Monks (tunics) with the models that came from Polish women’s fashion (headwear used by married women and widows – mob cap, wimple). The analysis of the habit of the Discalced Carmelite Nuns is based on extensive written sources as well as iconography. Their habit demonstrated the reception of forms of women’s clothing of Spanish provenance (a dress called saya and toca – a headdress), modified in accordance with the spirit of poverty and austerity. In the dress of candidates and in the symbols introduced to the vestition ceremony, native elements are visible. The symbolism of the habit is connected with Carmelite spirituality, whose main features are the cult of the Virgin Mary, that of the Passion, and the spirit of expiation. It also contains some meanings that come from the monastic tradition: the nuptial and baptismal significance being the symbol of new life. The habit is also the tunica sacra and the armour of the Miles Christianus.Strój karmelitanek dawnej obserwancji, ukształtowany w oparciu o konstytucje z 1482 roku, łączył formy zapożyczone ze strojów karmelitów (tuniki) oraz wzorce płynące z polskiej mody kobiecej (nakrycie głowy używane przez mężatki i wdowy – czepiec, rańtuch, podwika). Podstawą do analizy stroju karmelitanek bosych są bogate teksty źródłowe i ikonograficzne. Habit wykazywał recepcję form ubiorów kobiecych o proweniencji hiszpańskiej (suknia zwana saya oraz toca – nakrycie głowy), modyfikowanych zgodnie z duchem ubóstwa i surowości. W ubiorach kandydatek oraz w symbolach wprowadzonych do ceremonii obłóczyn widoczne są pierwiastki rodzime. Symbolika habitu łączy się z duchowością karmelitańską, której głównym rysem jest kult maryjny, pasyjność, duch ekspiacji. Niesie także znaczenia płynące z tradycji monastycznej: nupcjalne i chrzcielne będąc symbolem nowości życia. Habit to także tunica sacra oraz zbroja Miles Christianus

„Objaśnienie o sukience…” Historia i symbolika habitu karmelitańskiego w polskich klasztorach żeńskich

The habit of the Carmelite Nuns of the Ancient Observance, formed on the basis of their constitutions of 1482, combined forms borrowed from the habit of the Carmelite Monks (tunics) with the models that came from Polish women’s fashion (headwear used by married women and widows – mob cap, wimple). The analysis of the habit of the Discalced Carmelite Nuns is based on extensive written sources as well as iconography. Their habit demonstrated the reception of forms of women’s clothing of Spanish provenance (a dress called saya and toca – a headdress), modified in accordance with the spirit of poverty and austerity. In the dress of candidates and in the symbols introduced to the vestition ceremony, native elements are visible. The symbolism of the habit is connected with Carmelite spirituality, whose main features are the cult of the Virgin Mary, that of the Passion, and the spirit of expiation. It also contains some meanings that come from the monastic tradition: the nuptial and baptismal significance being the symbol of new life. The habit is also the tunica sacra and the armour of the Miles Christianus

The Development of Scapular Form and Its Symbolism

The article contains a brief presentation of the scapular and indicates its origins in the field of working clothes at the close of antiquity. The author of the article complements the literary sources with the iconographic material as well as portrays the changes of its form. The article also illustrates the evolution of the function that the scapular went through – from the role of a habit accessory (in St Benedict’s monastic rule) to the sign of piety associated with spiritual exercises of „good death”