1,314 research outputs found
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
No full textBACKGROUND: Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent.CASE-DIAGNOSIS/TREATMENT: We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1.CONCLUSIONS: Biallelic inheritance of abnormalities of PKD1 may cause extremely severe disease resembling autosomal dominant polycystic kidney disease (ADPKD) which can result in diagnostic confusion. Accurate diagnosis is essential for genetic counseling
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant
No full textThe role of osteoblast cells in the pathogenesis of unicameral bone cysts
No full textPurposeThe pathogenesis of unicameral bone cysts (UBCs) remains largely unknown. Osteoclasts have been implicated, but the role of osteoblastic cells has, to date, not been explored. This study investigated the pathophysiology of UBCs by examining the interactions between the cyst fluid and human bone marrow stromal cells (hBMSCs) and the effect of the fluid on osteogenesis.MethodsFluid was aspirated from two UBCs and analysed for protein, electrolyte and cytokine levels. Graded concentrations of the fluid were used as culture media for hBMSCs to determine the effects of the fluid on hBMSC proliferation and osteogenic differentiation. The fibrocellular lining was analysed histologically and by electron microscopy.ResultsAlkaline phosphatase (ALP) staining of hBMSCs that were cultured in cyst fluid demonstrated increased cell proliferation and osteogenic differentiation compared to basal media controls. Biochemical analysis of these hBMSCs compared to basal controls confirmed a marked increase in DNA content (as a marker of proliferation) and ALP activity (as a marker of osteogenic differentiation) which was highly significant (p < 0.001). Osteoclasts were demonstrated in abundance in the cyst lining. The cyst fluid cytokine profile revealed levels of the pro-osteoclast cytokines IL-6, MIP-1? and MCP-1 that were 19×, 31× and 35× greater than those in reference serum.ConclusionsCyst fluid promoted osteoblastic growth and differentiation. Despite appearing paradoxical that the cyst fluid promoted osteogenesis, osteoblastic cells are required for osteoclastogenesis through RANKL signalling. Three key cytokines in this pathway (IL-6, MIP-1?, MCP-1) were highly elevated in cyst fluid. These findings may hold the key to the pathogenesis of UBCs, with implications for treatment methods
Stadi della fede e trasformazioni della vita adulta negli studi di J. Fowler
No full textJ.W. Fowler (1940-2015), Ministro della Chiesa unitariana metodista, docente di teologia all’Università di Emory (Atalanta, Georgia, USA), Direttore del Centro di Ricerca sulla fede e lo sviluppo morale presso quella stessa Università, fino al 2005, è un autore ancora non tradotto in Italia, per quanto abbastanza studiato a livello internazionale. Il saggio lo introduce al lettore italiano, analizzando principalmente un suo volume del 1984 (rieditato e revisionato nel 2000), Becoming Adult, Becoming Christian (New York, Jossey Bass/ Wiley). Fowler ha utilizzato la ricerca psicologica sullo sviluppo umano per ridefinire le fasi evolutive della religiosità, sia negli stadi evolutivi, sia negli stadi adulti. Il suo modello dipende dalla letteratura scientifica quanto da una lunga esperienza di consulenza personale e di azione pastorale. L’A. evidenzia l’estrema attualità e l’importanza degli studi di Fowler per la ridefinizione del senso religioso/religiosità, in tempi di cambiamenti rapidi e di multi-cultura, e le implicazioni, implicite ed esplicite che tali studi presentano, sia per l’educazione religiosa iniziale, sia per l’accompagnamento formativo negli stadi della vita adulta.
Stages of faith and transformation of adult life in the studies of J. Fowler
J. W. Fowler (1940-2015), Minister of the Methodist Church Unitarian, professor of theology at Emory (Atalanta, Georgia, USA), Director of the Research Center on faith and moral development at the same university, until 2005, is an author still not translated in Italy, as studied enough at the international level. The essay introduces the reader Italian, mainly by analyzing a book of 1984 (re-edited and revised in 2000), Becoming Adult, Becoming Christian (New York, Jossey Bass / Wiley). Fowler has used psychological research on human development to redefine the evolutionary phases of religion, both in the developmental stages, both in the adult stages. His model depends on the scientific literature as a long experience of personal counseling and pastoral action. The A. highlights the extreme relevance and importance of the studies of Fowler to the redefinition of the religious sense / religiosity, in times of rapid change and multi-culture, and the implications, both implicit and explicit that such studies have, both for early religious education and for training and counseling in the stages of adult life
Poems by the most deservedly admired Mrs Katherine Philips, the matchless Orinda. To which is added, Monsieur Corneille\u27s Pompey & Horace, tragedies. With several other translations out of French.
No full textPhilips, Katherine Fowler (1631-1664) London: H. Herringman, 1678 Third edition PR3619 P4 1678 In 1663, poet Katherine Fowler Philips, daughter of a moderate Puritan and wife of a prominent Parliamentarian, translated Pierre Corneille\u27s tragedy La Mort de Pompée. Her translation was performed that year at Smock Alley Theatre in Dublin. The publication of Pompey was well-received and secured her reputation as an author. In 1664, a collection of her poetry plus her translation of La Mort de Pompée and her translation of Corneille\u27s Horace was published, much to her displeasure. She objected to the quality of the printing and the edition was removed from sale. Nevertheless, the book was reprinted in 1669, 1678 and once more in 1710
Italian influences at the court of James VI: the case of William Fowler
No full textIn this essay the author analyses the role of William Fowler, intellectual, translator, poet and spy, at the court of James VI of Scotland. In the early years of his reign, the King called at his court a literary coterie of Scottish and English writers, encouraging not only original and occasional compositions, but also literary translation. The essay shows that, while the King and most of his poetic followers showed a predilection for the translation of contemporary French works, Fowler turned his attention to Italian classic and contemporary works, translating Petrarch's Trionfi, Machiavelli's Prince, but also a number of minor works such as Giordano Bruno's sonnets or the Lamenti of musical tradition. The essay therefore re-locates Fowler's position in the Scottish early modern literary revival, and his role in Scoto-Italian cultural relations
Early ultrasonographic changes in Fowler syndrome features and review of the literature
No full textBackground: Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression of the ultrasonographic features of Fowler syndrome has never been described. Methods: Case report and review of the literature. Results: A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. Conclusion: The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age. Copyright © 2005 John Wiley and Sons, Ltd.Castro-Gago M, 2001, J CHILD NEUROL, V16, P858, DOI 10.1177-08830738010160111401; FOWLER M, 1972, DEV MED CHILD NEUROL, V14, P173; Halder Ashutosh, 2003, Indian Pediatr, V40, P418; HARDING BN, 1995, NEUROPATH APPL NEURO, V21, P61, DOI 10.1111-j.1365-2990.1995.tb01029.x; HARPER C, 1983, DEV MED CHILD NEUROL, V25, P232; Laurichesse-Delmas H, 2002, ULTRASOUND OBST GYN, V20, P612, DOI 10.1046-j.1469-0705.2002.00830.x; NORMAN MG, 1988, PEDIATR NEUROSCI, V14, P301, DOI 10.1159-000120409; Witters I, 2003, ULTRASOUND OBST GYN, V21, P411, DOI 10.1002-uog.123; Witters I, 2002, AM J MED GENET, V113, P23, DOI 10.1002-ajmg.10698; Witters I, 2002, AM J MED GENET, V108, P41, DOI 10.1002-ajmg.10208116
Leptobarbus rubripinna
No full textLeptobarbus rubripinna (Fowler) (Fig. 30, SEA[SPC]) References. Lim & Ng, 1990 (as L. hoeveni); Ng et al., 1993 (as L. hoeveni); Ng & Lim, 1997a (as L. hoeveni); Ng & Lim, 1997b (as L. hoeveni); Ng HH & Tan HH, 2010; Tan, 2016b. Remarks. This species is not established in Singapore as no breeding populations are known (Lim & Ng, 1990; Ng & Lim, 1997a).Published as part of Hui, Tan Heok, Peng, Kelvin Lim Kok, Huan, Liew Jia, Wei, Low Bi, Hing, Rayson Lim Bock, Beng, Jeffrey Kwik Teik & Yeo, Darren C. J., 2020, The non-native freshwater fishes of Singapore: an annotated compilation, pp. 150-195 in Raffles Bulletin of Zoology 68 on page 161, DOI: 10.26107/RBZ-2020-0016, http://zenodo.org/record/534398
Hemibagrus guttatus
No full textHemibagrus guttatus (Lacepède) [Extirpated] (EAs) References. Günther, 1864 (as Macrones elongatus); Fowler, 1938 (as Mystus elongatus); Alfred, 1966a (as Mystus elongatus); Ng et al., 1993; Ng & Lim, 1997b; Ng & Kottelat, 1998. Distribution. Not known. Remarks. This species was imported accidentally through the food fish route (Alfred, 1966a; Ng et al., 1993; Ng & Lim, 1997b), and appears to be extirpated in Singapore, as there had been no recent records. Ng & Kottelat (1998) clarified the taxonomy of the species, and H. elongatus, the name used previously, is a subjective junior synonym to H. guttatus.Published as part of Hui, Tan Heok, Peng, Kelvin Lim Kok, Huan, Liew Jia, Wei, Low Bi, Hing, Rayson Lim Bock, Beng, Jeffrey Kwik Teik & Yeo, Darren C. J., 2020, The non-native freshwater fishes of Singapore: an annotated compilation, pp. 150-195 in Raffles Bulletin of Zoology 68 on pages 166-167, DOI: 10.26107/RBZ-2020-0016, http://zenodo.org/record/534398
Topology Design of Pressure Adaptive Honeycomb for a Morphing Fowler Flap
No full textA new method for designing a morphing Fowler flap based on pressure-adaptive honeycomb is detailed. Pressure adaptive honeycomb has been shown to be able to induce gross camber deformations in airfoil sections, such as a flap. However, due to the large amount of design variables the integration of the honeycomb as a distributed actuator in a flap structure has proven to be challenging. Therefore, a design tool is developed that can aid the designer in generating a honeycomb and flap topology that ensures two desired shapes under two distinct conditions: a cruise shape and a high-lift shape. This tool is based on a finite-element analysis of the pressure-adaptive honeycomb, where the honeycomb elements are reduced to simple rigid-bar elements connected by frictionless hinges. This tool is verified against analytical and experimental results. In the present implementation the honeycomb is attached to the upper skin of the flap, which itself introduces curvature in the aft flap section. An optimization algorithm calculates the exact thickness distribution of the skin that introduces the prescribed shape in high-lift conditions. By varying the pressure inside the honeycomb, the initial skin curvature distribution, or the honeycomb topology, the designer can evaluate how well the calculated shapes match the desired shapes in high-lift and cruise condition. This allows for a faster and more accurate topology designs that can ultimately enable an effective morphing solution to increase the maximum lift capability of Fowler flaps.Aerodynamics, Wind Energy & PropulsionAerospace Engineerin
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