Next-Generation Sequencing of Hereditary Hemochromatosis-Related Genes: Novel Likely Pathogenic Variants Found in the Portuguese Population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.

Bullyin: espectáculo/intervenção : Relatóriode estágio sobre o espectáculo teatral / intervenção educativa ACTA - A companhia de teatro do Algarve

BULLYING- espectáculo/intervenção, é um relatório de estágio elaborado no contexto do curso de Mestrado de Teatro em Arte do Actor da Universidade de Évora pelo aluno 20584 Pedro Mendes. Dá conta da experiência curricular do mestrando enquanto actor numa companhia de teatro profissional, bem como de urna análise e pesquisa temática, processual e académica, por ele desenvolvidas e redigidas. O estágio de três meses foi realizado na ACTA- A Companhia de Teatro do Algarve, sedeada na cidade de Faro, e teve como objectivo a construção e consequente apresentação do espectáculo BULLYING, terceira produção artística da companhia de carácter pedagógico, nas diversas escolas básicas da região. Segundo a orientação da docente Ana Tamen, o discente abordou todo o objecto de estágio através de urna aproximação estética ao Teatro do Oprimido de Augusto Boal. _Summary: BULLYING- Show/lntervention, is an internship report, elaborated within the context of a Master's Degree in Theatre, «The Actor’s Art» - at the University of Évora by the student, number 20584, Pedro Mendes. This report contains the curricular experience of the student while acting for a professional theatre company, as well as an analysis and a thematic, procedure and academic research, developed and written by the student. The three-month internship was made at ACTA - A Companhia de Teatro do Algarve (Algarve's Theatre Company), established in the town of Faro. The development and presentation of the show BULLYING, is the third artistic educational production of the company, in several schools of the region. Under the guidance of the teacher Ana Tamen, the student meant to establish, through this report, an aesthetic connection between the work developed in this context and Augusto Boal’s ‘Teatro do Oprimido'. NOTA: Contém DVD com ficheiros de vídeo que só podem ser consultados na biblioteca.

Catalogue des Tableaux modernes... tableaux anciens, objets d'art... oeuvres d'art du Japon et de la Chine... provenant de la collection V. (Vitta) Vente Hotel Drouot les 27 et 28 juni 1924

[Vente (Art). 1924-06-27 - 1924-06-28. Paris]

Recueil d'épitaphes, précédé d'un journal des principaux événements arrivés à Paris de 1557 à 1590.

Contient : 1 Journal autographe de JEHAN DE LA FOSSE, où sont notés mois par mois les principaux événements des années 1557 à 1590, arrivés en France et particulièrement à Paris, où vivait l'auteur, curé de St-Leu et de St-Barthélemy ; 2 Recueil d'épitaphes ; « Cavendish,... general Norris,... docter Story,... mylord Treasurer,... Frier Andrew,... Ellis,... earle of Essex, beheaded in the tower », Joannes Rekingale, episcopus Cicestriensis, Gulielmus de Blitz, archidiaconus Nodovicensis ; Thomas Linaerus, regis Henrici VIII medicus, Antonius Riccius Faventiae, « Mr Hofkins », Lucretia Borgia, Honorius P. M., Johannes Riberius ; Galfridus Chaucer, Corythus, filius Oenones et Paridis, Ninus, Assyriae monarcha, Pyramis, lateritia Asychis, Aegypti regis ; Bartholomaeus Platina, Petrus Pomponatius, Pompeius Magnus, Capys, Ennius, Hannibal ; Marcus Antonius Turrianus, Marcus Antonius Coccius, Marcus Antonius Casanova, Sardanapalus, Rufus, Julius Caesar, Augustus Caesar ; Petrus Ciaconius, Nicolaus Macchiavellus, Gulielmus Rondeletus, medicus, Anicia, foemina romana, Callicratea ; Johannes Coletus, Rembertus Dodonaeus, medicus Maximiliani II et Rodolphi imperatorum, Alcaeus poeta, Scipio Africanus ; Paracelsus, Gerardus Noviomagus et Andreas Hyperius, Didacus de Valdes, Albericus de Vere et Gulielmus, primus comes Oxoniensis, Robertus Buc ; Hieronymus Cagnolus Vercellensis, Johannes Stofflerus, mathematicus Tubingae, Remigius Bellaqueus, Pallas, Evandri filius, Zarmanochegas indus, de Bargosa ; Johannes Rivius Attbend, Petrus Bembus, Lucius P. M. Veronae, Gulielmus Norselez, decanus quondam ecclesiae S. Pauli Londini, Mathias Corvinus, rex Pannoniae ; Philippus Callimachus Cracoviae, in aede S. Trinitatis, Ludovicus Bologninus, Bononiae, Rachel, uxor Jacobi Bethleem, Aratus, Plato, Aeschylus ; Joannes Zonaras, Homerus, Menander, Epictetus ; Berengarius, archidiaconus Andegavensis, Andreas Fanzonius, Cyrus, Persarum monarcha, Midas ; Hugo S. Victoris Parisiensis, S. Bernardus, abbas claraevallensis, Petrus de Toledo, Psittacus, Musaeus poeta, Linus, thebanus poeta, Orpheus ; Petrus Lombardus, Petrus Comestor, Pallas, libertus Romae, Megista, Spartanus vates ; Aegidius de Roma, archiepiscopus Bituricensis, Johannes Gerson, Aristocrates, perfidus in Lycaei Jovis luco, Setho, sacerdos Vulcani et Aegypti rex, Rosamunda Cliffordensis, Petrus Aretinus ; Nicolaus de Lyra, Jacobus Pisaurus, Paphi episcopus, Cedwalla, rex Sussexiae ; Alphonsus Tostadus, hispanus, Abulensis episcopus, Albertus Pius de Sabaudia, princeps Carporum, Similis, praefectus praetorianorum, Jupiter, Osyris, Isis ; Aeneas Sylvius, Christophorus Colombus, Hermes, Apollo, Timon, Darius ; Robertus Gaguinus, Johannes de Sacro Busto, Darius, Hystaspis filius, Simandius, Aegypti rex, Idomeneus et Myrio, filii Deucalionis, Semiramis ; Alexander Piccolomineus, Justina, pulchra foemina, quam maritus zelotypus nefarie decollavit, Claudia, nobilis foemina Romae, Carolus Magnus, Carolus V, imperator ; Actius Plautus, Johannes Boccacius, Franciscus Ximenes, cardinalis Hispaniae, Federicus imperator, Sylla, Ricardus I, rex Anglorum ; Johannes Stadius, math. belga, C. Manlia camertina, Johannes de Mandeville, Patricius, Brigida et Columda in Hibernia, la reine d'Angleterre, femme de Jacques Ier ; Johannes Glandorp, Jodocus, medicus Romae, Urandus, sive Durandus, Johannes Jacobus Trivultius, Ludovicus VIII, rex Francorum ; Antonius quidam italus, Fin dal Finale, Battistina Senensis, puella elegantissima ; Chalonerus Dubliniae, Askew Lincolniensis, Christophorus Hatton, Robertus, comes Leicestriae ; Johannes Chidley, Walterus Ralegh, Arturus Gorges, Johannes Parkar, Maria Stafford, Charitas et Carolus Ho., Thomas Wals, Sylvanus Scorus, Johannes Horo et Edwardus Nymark, Edwardus Stanhop, Franciscus Wal ; Philippus Sydney, Franciscus Walsinghan, N. Marsonius, jurisconsultus, Christophorus H, Gulielmus, comes Penbrok, Angliae marescallus, Antonius Deny, frater Lubinus ; Fratislaus, dux Bohemiae, countess of Penbrok, Edward Spenser, Henry Abyngdon, Thomas Nash, N. Dobson ; Dr Hugh a price, Johannes Vitulus, Dr Bently, Hor. Pallavicin, Margaret Ratcliff ; Howlet, Elian, Henry Barron ; James Stuart, Thomas Sackville, Penelope d'Evreux, uxor domini Bar. Rich, pellicis comitis Devonshire, Robert Cecil, Ricardus Bancroft, archiepiscopus Cantuariensis ; Godefridus de Bulion, Balduinus, rex Jerusalem, Allicia, pulchra foemina anglica et forte meretrix, Theobaldus, comes Campaniae, qui vixit tempore regis Angliae Stephani ; Fernandus de Castro, hispanus in Anglia exulans et moriens ob fidem in Dominum Petrum, regem Castellae, Johannes Taylor de Colman street, usurarius, Petrus Miago Vallisoleti, in templo Sancti Stephani, Franciscus Duarte de Mendico, a proveedor de los exercitos y armadas del emperador Carlo V, Henricus, Walliae princeps ; Milo, comes de Anglera, pater Rolandi, a Mauris juxta ripam Ceae occisus, Hecuba, S. Edmundus, rex et martyr, Pindarus, poeta lyricus, Stesichorus, Anacreon, poeta vinosus, Leonidas, dux Lacedemoniorum ad Thermopylas occisus contra Persas, Timotheus, citharedus milesius ; Timocreon Rhodius, Laïs, meretrix Corinthia, sepulta in Thessalia, juxta Peneum fluvium, Acron, antiquissimus medicus Agrigentinus

Horton Family collection, 1912, 1919, 1924, n.d.

Dr. William Hamilton Merritt, Jr. was born in 1865 and died in 1924. He was the son of Jedidiah Prendergast Merritt and Emily Prescott, grandson of William Hamilton Merritt. In 1892 he was married to Maud Claudman Hudson of Memphis, Tennessee and had a daughter and a son. During World War I he commanded the 14th battery at Flanders and after becoming ill served as part of the 9th Canadian Field Ambulance, 3rd Canadian Division, serving at a military hospital in Orpington, Kent, England and in 1917 at a military hospital in France. Dr. Merritt served as alderman and mayor for the city of St. Catharines, Ont. He was also a vice-president of the Imperial Bank of Canada, and served on the board of the Niagara Falls Suspension Bridge. A memorial service was held in St. Thomas Church, St. Catharines, Ont. on April 24, 1924.

Benjamin Woodruff Price Papers, 1851, 1853-1860, 1862-1863, 1874, n.d.

The fonds includes sixty two items of correspondence between Benjamin Woodruff Price, aka Woodruff, Ben or Uncle, and various family members, both immediate and distant cousins. Also included is business correspondence related to Price’s activities as a watchmaker and/or jeweler. Benjamin Woodruff Price was born in Thorold Township ca. 1831, the son of Joseph Price and Mary Smith. B.W. Price married Ella or Ellen McGlashan (1851-1906) ca. 1868. Price died between 1891 and 1901, his burial location is unknown at present. A watchmaker and jeweler, Price lived most of his life in Fonthill, Ont. He also included auctioneer, undertaker and photographer as some of his other professional activities. His siblings included David Smith Price (wife Isabella Ann), John Smith Price (wife Elizabeth Jane), and sisters Susan Page (husband Edward Rice Page), Jerusha Price, Mary Price and Martha W. Stone (husband Dudley Ward Stone). John Smith Price died 18 April 1860, leaving no descendents. It is likely that G.W. Stone was a nephew to B.W. Price, the son of his sister Martha W. Stone and her husband Dudley Ward Stone. Susan Page was a sister of Benjamin Woodruff Price. She was married to Edward Rice Page and they had at least two children, Joseph and Clayton. At the time of this correspondence they lived in Suspension Bridge, NY, now part of Niagara Falls, New York. Edward Rice Page’s occupation was listed as saloon keeper. The Price family appears to have had a very large extended family. This information was gleaned from the contents of letters of Maggie Tisdale, daughter of Ephraim and Hannah (Price) Tisdale, P.A. or Ann Morgan, [may also be Phebe Ann] of Newark, NY? and Marietta House of Bayham Township. DeWitt Higgins of Suspension Bridge, NY aka Niagara Falls, NY was an auctioneer, specialized in buying jewellery, watches, clocks, from individuals and reselling his product to others like B.W. Price.

General Price List, Ontario, 1 January 1924

A general price list from the year 1924 for the province of Ontario. The cover of the list reads: "Ontario Government Dispensaries Conducted Under Direction of Board of License Commissioners for Ontario By Authority of The Ontario Temperance Act. General Price List, Dispensaries sell liquor for medicinal, sacramental, scientific and manufacturing purposes only. The sale of liquor for beverage purposes in the Province of Ontario is prohibited by The Ontario Temperance Act. Dispensaries: No.1-154 Wellington Street West, Toronto; No.2-1271 Dundas Street West, Toronto; No.3-29 Charles Street, Hamilton; No.4-425 Talbot Street, London; No.5-30 Sandwich Street West, Windsor; No.6-Golden Lion Block, Kingston; No.7-92 Kent Street, Ottawa; No.8-109 Simpson Street, Fort William."

Letter to Mr. W.D. Woodruff of Lincoln Paper Mills, Merritton from P.J. Price of the United Gas Companies

Letter to Mr. W.D. Woodruff of Lincoln Paper Mills, Merritton from P.J. Price of the United Gas Companies, St. Catharines regarding a cheque received from E.J. McIntyre for $200. Included with this letter is an envelope addressed to W.D. Woodruff, Dec. 27, 1910.