Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common type, known as infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl; this is followed by seizures, hearing loss, inability to move. Death occurs in early childhood. Less the disease may occur in childhood or adulthood; these forms are milder in nature. Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, it is inherited from a person's parents in an autosomal recessive manner. The mutation results in problems with an enzyme called beta-hexosaminidase A which results in the buildup of the molecule GM2 ganglioside within cells, leading to toxicity. Diagnosis may be supported by measuring the blood hexosaminidase genetic testing, it is a type of sphingolipidosis. The treatment of Tay–Sachs disease is supportive in nature; this may involve multiple specialities as well as psychosocial support for the family.
The disease is rare in the general population. In Ashkenazi Jews, French Canadians of southeastern Quebec, the Old Order Amish of Pennsylvania, the Cajuns of southern Louisiana, the condition is more common. 1 in 3,600 Ashkenazi Jews at birth are affected. The disease is named after Waren Tay, who in 1881 first described a symptomatic red spot on the retina of the eye. Carriers of a single Tay–Sachs allele are normal, it has been hypothesized that being a carrier may confer protection from tuberculosis, explaining the persistence of the allele in certain populations. Researchers are looking at gene therapy or enzyme replacement therapy as possible treatments.. Tay–Sachs disease is first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimuli, known as the "startle response". There may be listlessness or muscle stiffness; the disease is classified into several forms, which are differentiated based on the onset age of neurological symptoms.
Infants with Tay–Sachs disease appear to develop for the first six months after birth. As neurons become distended with GM2 gangliosides, a relentless deterioration of mental and physical abilities begins; the child may become blind, unable to swallow and paralytic. Death occurs before the age of four. Juvenile Tay–Sachs disease is rarer than other forms of Tay–Sachs, is seen in children between two and ten years old. People with Tay–Sachs disease develop cognitive and motor skill deterioration, dysphagia and spasticity. Death occurs between the age of five to fifteen years. A rare form of this disease, known as Adult-Onset or Late-Onset Tay–Sachs disease has its first symptoms during the 30s or 40s. In contrast to the other forms, late-onset Tay–Sachs disease is not fatal as the effects can stop progressing, it is misdiagnosed. It is characterized by unsteadiness of progressive neurological deterioration. Symptoms of late-onset Tay–Sachs – which begin to be seen in adolescence or early adulthood – include speech and swallowing difficulties, unsteadiness of gait, cognitive decline, psychiatric illness a schizophrenia-like psychosis.
People with late-onset Tay–Sachs may become full-time wheelchair users in adulthood. Until the 1970s and 1980s, when the disease's molecular genetics became known, the juvenile and adult forms of the disease were not always recognized as variants of Tay–Sachs disease. Post-infantile Tay–Sachs was misdiagnosed as another neurological disorder, such as Friedreich's ataxia. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy; the affected child would have received a mutated copy of the gene from each parent. Tay–Sachs results from mutations in the HEXA gene on chromosome 15, which encodes the alpha-subunit of beta-N-acetylhexosaminidase A, a lysosomal enzyme. By 2000, more than 100 different mutations had been identified in the human HEXA gene; these mutations have included single base insertions and deletions, splice phase mutations, missense mutations, other more complex patterns.
Each of these mutations alters the gene's protein product, sometimes inhibiting its function. In recent years, population studies and pedigree analysis have shown how such mutations arise and spread within small founder populations. Initial research focused on several such founder populations: Ashkenazi Jews. A four base pair insertion in exon 11 results in an altered reading frame for the HEXA gene; this mutation is the most prevalent mutation in the Ashkenazi Jewish population, leads to the infantile form of Tay–Sachs disease. Cajuns; the same 1278insTATC mutation found among Ashkenazi Jews occurs in the Cajun population of southern Louisiana. Researchers have traced the ancestry of carriers from Louisiana families back to a single founder couple – not known to be Jewish – who lived in France in the 18th century. French Canadians. Two mutations, unrelated to the Ashkenazi/Cajun mutation, are absent in France but common among certain French-Canadian communities living in southeastern Quebec and Acadians from the Province of New Brunswick.
Pedigree analysis suggests. In the 1960s and early 1970s, when the biochemical basis of Tay–Sachs disease was first becoming known, no mutations ha
Emily Hagins is a Los Angeles-based filmmaker. Emily Hagins made her first feature at the age of 12 in her hometown of Austin, Texas – a zombie movie called Pathogen; the documentary Zombie Girl: The Movie chronicled her process from start to finish. Hagins made her second feature, The Retelling, at the age of 14. At 17, she wrote and directed her third feature, My Sucky Teen Romance, which film premiered at SXSW and was distributed by Dark Sky Films, her fourth feature, Grow Up, Tony Phillips premiered at SXSW and was released on DVD/VOD in 2014. She wrote and directed the segment "Touch" for Chiller's horror anthology Chilling Visions: 5 Senses of Fear, her most recent feature film, a teen heist movie titled Coin Heist, is based on a young adult novel of the same name and was released as a Netflix Original Film in January 2017. She completed the six-part digital series Hold to Your Best Self with Adaptive Studios, which premiered at SXSW 2018. Pathogen The Retelling My Sucky Teen Romance Chilling Visions: 5 Senses of Fear Grow Up, Tony Phillips Coin Heist Official website Emily Hagins on IMDb
The American International Yellow Jackets is composed of 22 teams representing American International College in intercollegiate athletics, including men and women's basketball, cross country, lacrosse and track and field. Men's sports include baseball, ice hockey, wrestling. Women's sports include field hockey, softball and volleyball; the Yellow Jackets compete in NCAA Division II and are members of the Northeast-10 Conference for all sports except ice hockey and women's rugby, which compete in NCAA Division I, wrestling, NCAA Division II Independent. The men's ice hockey team is a member of Atlantic Hockey; the Yellow Jackets started competing in the 1933-34 academic season in football, men's basketball and baseball. Men's soccer was added just one year later; the athletic department grew to five teams in the winter of 1948 when the Yellow Jackets started their ice hockey team. Twenty years AIC introduced its first women's sport, softball. Judy Groff was introduced as a position she held for 42 seasons.
Volleyball, invented down the road in Holyoke, started in the fall of 1974 with Groff taking the reins. In the 1977-78 school year, AIC began competing in men's golf, it would be seven years before the athletic department grew again when they added women's soccer for the 1985 school year. With the emergence of lacrosse in the Northeast, the Yellow Jackets added men's lacrosse in the spring of 1992. In 1996-97, field hockey and women's lacrosse were added to the department to bring the women's teams total to six. Ten years the Yellow Jackets added six teams to their extensive department in men's and women's cross country, men's and women's indoor track, men's and women's outdoor track. In 2018, the department added women's golf. With the backing of USA Triathlon, American International College will become the 24th team in the nation to introduce a women's varsity triathlon program to its athletic department, Director of Athletics Matthew Johnson announced on Tuesday, May 29 AIC expects competition to begin in the fall of 2019.
Ice Hockey: 2019 Baseball: 1991 Men's Basketball: 1966, 1967, 1968, 1969, 1970, 1983, 1984, 1985, 1994, 2000, 2010, 2015 Elite Eight: 1968, 1969, 1970, 1985 Men's Cross Country: 2012, 2014, 2016, 2017 Football: 2008, 2013 Men's Golf: 2008, 2009, 2010, 2011, 2012, 2014, 2015 Women's Basketball: 1995, 1996, 2000, 2001, 2002, 2004, 2005, 2006, 2007, 2009, 2016 Elite Eight: 2002, 2006 National Finalist: 2006 Field Hockey: 2010, 2011 Women's Soccer: 1998, 2010, 2012, 2013, 2016 Final Four: 2013 Softball: 1985, 1987, 1989, 1990, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2001, 2002, 2003 World Series: 1996, 1997 Volleyball: 2010, 2016, 2017, 2018 Elite Eight: 2016, 2018 AIC has a college rugby program, founded in 2009 and began play in 2010. The rugby program is part of the school's athletic department, has varsity status, with rugby scholarships available for students. AIC plays in Division I in the Liberty Rugby Conference. Romina Bell, Austrian football defender playing for FC Neunkirch in the Swiss Nationalliga A.
Jim Calhoun, a Hall of Fame basketball coach Asnage Castelly, Olympic Games 1st Haitian wrestler in Summer Olympics in the 74 kg freestyle competition the flag bearer of the Haitian delegation for the Olympics opening. Mario Elie, NBA guard Dave Forbes, NHL hockey player John Gibbons, First African American U. S. Marshall for the District Bruce Laird, NFL safety for the Baltimore Colts Tom Rychlec, NFL and AFL tight end for several teams GASHI, Rapper Official website
Otto's Sausage Kitchen Otto's Meat Market, is a sausage restaurant and meat market located in the Woodstock neighborhood of Portland, United States. German immigrant Otto Eichentopf established Otto's Meat Market in Aberdeen, Washington in the 1910s before relocating to Portland in 1921. Otto's Meat Market opened on Southeast Woodstock Boulevard in 1922. A new building was constructed at its current location in 1936–1937. Eichentopf's son Edwin acquired the store in the 1940s. Since he and his wife have expanded the retail part of the store; the family, which now includes the couple's children and extended members, makes more than forty sausage varieties on site, including some based on Eichentopf's recipes from Germany. Otto Eichentopf, born in Germany in 1890, started Otto's Meat Market in Aberdeen, Washington in the 1910s. In 1921, Eichentopf relocated to Oregon with his wife Selma and their son Edwin. Otto's Meat Market opened on Southeast Woodstock Boulevard in 1922. A new building was constructed at its current location in 1936–1937.
The building included a smokehouse. Moreland Market was located in the front of the building, Eichentopf and his son continued to make sausage in the back. Following Edwin's marriage to Eleanor in 1942 and some time in Germany during World War II, he worked for his father and acquired the meat market and store. In 1942, Edwin and Eleanor gave birth to Jerry. Jerry began working for Edwin full-time starting at age eighteen. In 1976, Jerry married Gretchen; the couple acquired the store in 1983. Gretchen has expanded the retail part of Otto's over the years; the couple's three daughters Heidi and Bereka, Heidi's husband Justin and their two children, assist with daily operations. Sausage making practices have been passed down over the generations; the family makes more than forty sausage varieties on site, including some based on Eichentopf's recipes from Germany. Otto's' menu includes British bangers, chicken, ham hocks and varieties of sausages. Eichentopf's "authentic" bockwurst recipe contains chives, eggs and veal.
The kitchen serves homemade relish and sauerkraut and sells chocolates from Europe, German beer and wine, imported varieties of mustard, locally-made honey, peppered jellies. In 2014, Michael Burge Smith painted a nearly 1,000 square foot mural depicting the Swiss and German Alps for the Eichentopfs. Smith and Gretchen collaborated on the concept after he saw the building's blank exterior 64-foot wall one year prior and showed her samples of his work. Before painting the kitchen's outside wall, Smith completed an interior mural at Otto's and another at the Eichentopfs' daughter's house. Most of the mural, inspired by the Eichentophfs' passion for skiing, was completed by Smith. Smith worked on the mural over the course of two months between the hours of 9 pm and 3 am, he said of his working style: "I love the freedom of being able to pick my hours. And I travel with my band all over the world, so I fit painting in when I have time." Smith has completed many murals in Portland and has taught painting to high school students in Oregon and Idaho.
In February 2019, Smith returned to paint a "magical" 33-foot-long mural on the building's north side. The fantastic art depicts German folklore and features castles and flying horses around a central "tree sprite"; the "Lord of the Forest" figure is painted over a column and onto nearby benches, the bark was painted by Smith to be interpreted as either "friendly or fearsome". According to staff, Smith paints seasonal murals four times per year. Otto's has been featured in Jane and Michael Stern's book Roadfood, on the Food Network's Diners, Drive-Ins and Dives, in publications such as Gourmet magazine and The Oregonian; the Sterns included the kitchen on their list of the top ten "best hot-dog makers" in the United States for the cooking and food website Epicurious. In 2011, Serious Eats included Otto's as one of 64 contenders in their "Search for America's Best Hog Dog". Otto's has been called "quaint" and its sausages, "awesome"; the guide book Portland, Oregon: Including the Metro Area and Vancouver, Washington recommends the potato salad and says, "if you are a sausage connoisseur and love ethnic foods you will enjoy your stop here".
Mladen Markač is a Croatian retired general. He was a Commander of Croatian Special Police during Operation Storm during the Croatian War of Independence, afterwards held the rank of Colonel General, he was indicted by the International Criminal Tribunal for the Former Yugoslavia for war crimes committed during Operation Storm by Croatian forces against the Serbs from Croatia. In April 2011, the ICTY sentenced him to 18 years. On 16 November 2012, his conviction was overturned on all charges by the appeals panel at the ICTY, he was set free to a hero's welcome in Croatia. Mladen Markač was born in 1955 in Đurđevac, People's Republic of Croatia part of the Federal People's Republic of Yugoslavia. In 1981, he graduated from the University of Zagreb, in 1982, he completed his compulsory military service, he joined the police force of the SFRY Ministry of the Interior. In 1990, Markač and others established a police unit for special tasks in the Ministry of the Interior, he was appointed Deputy Commander and in late 1990, this unit became the Lučko Anti-Terrorist Unit.
In 1991, Mladen Markač was appointed the head of the Lučko Anti-Terrorist Unit. In 1992, he was promoted to the rank of Colonel General. On 18 February 1994, Mladen Markač was appointed Commander of the Special Police of the Ministry of the Interior of the Republic of Croatia, which gave him overall authority and responsibility for the operation and functioning of the Special Police, he was Assistant Minister of the Interior for Special Police. As Commander of the Special Police, Markač controlled all members of the Special Police who were involved in Operation Storm and the related continuing operations in that region; the participating Special Police force was composed of individuals from special purpose units, including the Lučko Anti-Terrorist Unit, the Special Police logistics department and a Ministry of Interior communications company, as well as individuals from Special Police units from various District Police Administrations throughout Croatia. According to the ICTY indictment, he could command his subordinates, had the material ability to prevent persons under his authority from committing crimes and to punish his subordinates for any crimes that they committed.
He had the ability to recommend or propose disciplinary measures against members of the Croatian Army who were subordinated to his command during the operation. He has been indicted by the International Criminal Tribunal for the Former Yugoslavia in the Hague on charges of operating a joint criminal enterprise for the purpose of permanently removing the Serb population from the Krajina by force and of crimes against humanity. In March 2004, Markač voluntarily was transferred to the ICTY in The Hague. On 15 April 2011, Mladen Markač was found guilty by the ICTY and sentenced to 18 years in jail for war crimes, including murder and plunder. In a three-to-two majority opinion, the appeals panel rendered a not guilty verdict on 16 November 2012; the presiding judge was Theodor Meron. The previous verdict sentenced him to 18 years in prison, while Ante Gotovina was sentenced to 24 years. Both were accused of being part of the "criminal enterprise", but Meron concluded that "there was no such conspiracy".
The night before, candle-lit vigils were held across Croatia, including at Roman Catholic churches, while several thousand people were expected to watch a live 9:00 broadcast on a giant screen in Zagreb's Ban Jelačić Square. A leader of the war veterans' association, Josip Klemm, said: "We want to show our support for our generals and we are waiting with them for the verdict." Roman Catholic bishop Vlado Košić had called on his flock to "raise their voice against injustice regarding the generals and Croatia" and to pray "for a fair verdict."Many veterans, some of whom wore their uniforms and carried the coat of arms of their units or the flag of Croatia, marched from Zagreb's Mirogoj cemetery to the Zagreb Cathedral. Another veterans' association leader, Ilija Vucemilovic, said: "It has to be clear who were the victims, from where those who killed and raped came; this was not the verdict against our generals, but against all of us, our children and our future."After his release, the Croatian government sent a plane for Markač and Gotovina and they were greeted by the minister of defence Ante Kotromanović and minister of veterans, Predrag Matić.
When Gotovina and Markač arrived in Zagreb, they were greeted by the Croatian officials, including the Prime Minister. Around 100,000 people cheered. During a speech, Markač addressed the mass, saying: "I have always carried the homeland in my heart, the homeland are you."After making a speech at the square, a procession was held for the generals after which they were greeted by the cardinal, Josip Bozanić. At Zagreb Cathedral, a mass was held for the event. After the mass, Markač and Gotovina were received by the president at the Presidential Palace. Markač's acquittal made international reactions. Croatian Prime Minister Zoran Milanović said that release of Markač and Gotovina is important for whole Croatia and thanked them for "enduring so much for Croatia." The President, Ivo Josipović, said that Markač and Gotovina spent eight years in prison while innocent and thanked them for their sacrifice for Croatia. Ivan Šimonović, former Croatian minister of justice and present assistant of the UN's General Secretary Ban Ki-Moon, said that this verdict will have an important role in interpretation of certain regulations and in definition of the standard of the international criminal law.
Brian Walton was an English priest and scholar. Walton was born in the district of Cleveland, Yorkshire, his early education was at the Newcastle Royal Free Grammar School. He went up to Cambridge as a sizar of Magdalene College in 1616, migrated to Peterhouse in 1618, was bachelor in 1619 and master of arts in 1623. After holding a school mastership at Suffolk and two curacies, he was made rector of St Martin's Ongar in London, of Sandon, in Essex, in 1626. At St Martin's Ongar he took a leading part in the contest between the London clergy and the citizens about the city tithes, compiled a treatise on the subject, printed in Brewster's Collectanea, his conduct in this matter displayed his ability, but his zeal for the exaction of ecclesiastical dues was remembered in 1641 in the articles brought against him in parliament, which appear to have led to the sequestration of his considerable preferments. He was charged with Popish practices, but on frivolous grounds, with aspersing the members of parliament for the city.
His arms were: Three geese passant close. In 1642 he was ordered into custody as a delinquent. In this retirement he gave himself to Oriental studies and carried through his great work, a Polyglot Bible which should be completer and provided with a better critical apparatus than any previous work of the kind, he was buried in Old St Paul's Cathedral in London, but the grave and monument were destroyed in the Great Fire of London in 1666. His name appears on a modern monument in the crypt; the proposals for the Polyglot appeared in 1652. The book itself came out in six great folios; the first volume appeared in September 1654. Nine languages are used: Hebrew, Samaritan, Arabic, Ethiopic and Latin. Among his collaborators were James Ussher, John Lightfoot and Edward Pococke, Edmund Castell, Abraham Wheelocke and Patrick Young, Thomas Hyde and Thomas Greaves; the great undertaking was the first in England supported by subscription - £50 each. Walton's political opinions did not deprive him of the help of the Commonwealth.
Two versions of the work, one dedicated to Cromwell, the other known as the "Loyal" one. To Walton himself, the Restoration brought no disappointment: he was consecrated bishop of Chester in December 1660. In the following spring he was one of the commissioners at the Savoy Conference, but took little part in the business. In the autumn of 1661 he paid a short visit to his diocese, returning to London he died. According to an assessment in Chisholm: However much Walton was indebted to his helpers, the Polyglot Bible is a great monument of industry and of capacity for directing a vast undertaking, the Prolegomena show judgment as well as learning; the same qualities appear in Walton's Considerator Considered, a reply to the Considerations of John Owen, who thought that the accumulation of material for the revision of the received text tended to atheism. Among Walton's works must be mentioned an Introductio ad lectionem linguarum orientalium, meant to prepare the way for the Polyglot. In 1669, Dr. Edmund Castell published the Lexicon Heptaglotton in two folio volumes.
This was a lexicon of the seven Oriental languages used in Walton's Polyglot, had grammars of those languages prefixed. Codex Montfortianus Minuscule 47 Minuscule 57 Minuscule 96 Minuscule 2818 Christianity portal "Walton, Brian". Dictionary of National Biography. 1885–1900. Todd, Henry John. Memoirs of the life and writings of the Right Rev. Brian Walton. F. C. & J. Rivington. Works by Brian Walton at Post-Reformation Digital Library