Christopher S Collins Sj Popular Books
Christopher S Collins Sj Biography & Facts
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited. The involved genes may include TCOF1, POLR1C, or POLR1D. Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing. Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900. Signs and symptoms Symptoms in people with Treacher Collins syndrome vary. Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway compromise. Most of the features of TCS are symmetrical and are already recognizable at birth. The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone. This can be accompanied by the tongue being retracted. The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing. The respiratory system of a child with Treacher Collins syndrome is the primary concern at birth, with other issues only addressed once respiratory function has been stabilized. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance. The external ear is sometimes small, rotated, malformed, or absent entirely in people with TCS. Symmetric, bilateral narrowing or absence of the external ear canal, is also described. In most cases, the bones of the middle ear and the middle ear cavity are misshapen. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss. Most affected people also experience eye problems, including coloboma (notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia. It can also be caused by severely dry eyes, a consequence of lower eyelid abnormalities and frequent eye infections. Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed. Cleft palate is also common. Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth. In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion. This can lead to problems with food intake and the ability to close the mouth. Less common features of TCS may add to an affected person's breathing problems, including sleep apnea. Choanal atresia or stenosis is a narrowing or absence of the choanae, the internal opening of the nasal passages, which may also be observed. Underdevelopment of the pharynx can also narrow the airway. Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate, hypertelorism, notched upper eyelid, and congenital heart defects. Although facial deformity is often associated with developmental delay and intellectual disability, more than 95% of people affected with TCS have normal intelligence. The psychological and social problems associated with facial deformity can affect quality of life in individuals with TCS. Genetics Mutations in TCOF1, POLR1C, or POLR1D genes can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, with POLR1C and POLR1D gene mutations causing an additional 2% of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. The TCOF1, POLR1C, and POLR1D genes code for proteins which play important roles in the early development of bones and other tissues of the face. Mutations in these genes reduce the production of rRNA, which may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. It is unclear why the effects of a reduction in rRNA are limited to facial development. Mutations in TCOF1 and POLR1D cause the autosomal dominant form of Treacher Collins, and mutations in POLR1C cause the autosomal recessive form. TCOF1 TCOF1 is the primary gene associated with TCS, a mutation in this gene being found in 90–95% of the individuals with TCS. However, in some individuals with typical symptoms of TCS, mutations in TCOF1 have not been found. Investigation of the DNA has resulted in the identification of the kind of mutations found in TCOF1. The majority of mutations are small deletions or insertions, though splice site and missense mutations also have been identified. Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family-specific mutations. The only recurrent mutation accounts for about 17% of the cases. TCOF1 is found on the 5th chromosome in the 5q32 region. It codes for a relatively simple nucleolar protein called treacle, that is thought to be involved in ribosome assembly. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. The one normal copy of the gene does not produce enough protein, causing disease. Haploinsufficiency of the treacle protein leads to a depletion of the neural crest cell precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arches. These cells play an important role in the development of the craniofacial appearance, and loss of one copy of treacle affects the cells' ability to form the bones and tissues of the face. Other mutations POLR1C and POLR1D mutations are responsible for a minority of cases of Treacher Collins. POLR1C is found on chromosome 6 at position 6q21.2 and POLR1D is found on chromosome 13 at position 13q12.2. Those genes code for a protein subunits shared between RNA polymerase I and III. Both of these polymerases are important for ribosome biogenesis. Diagnosis Genetic counseling TCS is inheri.... Discover the Christopher S Collins Sj popular books. Find the top 100 most popular Christopher S Collins Sj books.
Best Seller Christopher S Collins Sj Books of 2024
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The Icing on the Cake
Linda SeedShe’s a baker without a kitchen. He’s got a double oven to spare. It’s a recipe for success, until his mother starts stirring up trouble … Cassie Jordan has a sweet dream to open a...
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My Paper Heart
Magan VernonOne piece of paper can change everything After my parents received the letter I failed out of college, they didn't ask questions. They just sent me to work for my great aunt i...
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School of Potential
W.J. MayUSA Today Bestselling author, W.J. May brings you a continuation of the international bestselling series, The Chronicles of Kerrigan! Come back and enjoy the famous characters, or ...
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Becoming Lady Dalton
Carrie LomaxA dance of desire and deceit... In the glittering world of London's ton, Mrs. Viola Cartwright revels in her newfound freedom as a lady of leisureuntil a series of jewel theft...
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The Honeymoon Homicide
J. R. Mathis & Susan MathisEnjoy this SmallTown Murder Mystery Featuring A Unique Sleuthing Couple I'm Father Tom Greer, a Catholic Priest in a smalltown parish who never expected this . . . When I came...
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Noxious
Lexy TimmsStop setting yourself on fire to keep someone else warm. Brady and Levi have been together since high school, since before he became famous and started thinking only about himself....
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You Are Kind
Michael GordonA little kindness goes a long way. How can you help encourage your kids to be kind from a young age? Teach kindness to preschoolers Acts of kindness can be fun, easy, and make a ...
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The Odyssey
HomerAn Apple Books Classic edition. Homer’s eighthcentury epic poem is a companion to The Iliad . It tells the story of Odysseus, who journeys by ship for 10 years after the Trojan War...
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The Holy Bible - King James Version
King JamesHoly Bible King James Version Few Sample Paragraphs from The Holy Bible eBook, Genesis (OT) 1 Gen. 1 IN the beginning God created the heaven and the earth. 2 And the earth was with...
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Alpha
Sybil BartelBillionaire. Mercenary. Navy SEAL. The Teams trained me to be a killer. War taught me to be ruthless. Then an illfated mission proved I was human. Combat wounded, cut loose by the ...
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Saltwater Cove
Amelia AddlerSecond chances...and the secrets that sabotage them. At 48 years old, Margie Clifton never expected to be starting her life all over again. But when her brother gifts her a propert...
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Awaken Me
Jenna JacobHe was more than a ghost haunting my dreams…he was real. By day, I’m Julianna Garrett …a prim, proper accountant. By night, I’m tormented by dreams of an alpha, ambereyed Adonis wh...
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Dream Psychology
Sigmund FreudAn Apple Books Classic edition. Written by the founding father of psychoanalysis, Sigmund Freud’s 1899 book is the definitive text on learning to interpret dreams. Freud’s groundbr...
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A Green Kind of Witch
Sierra CrossCinderella crossed with Mean Girls.   That's what Hazel's daily existence feels like. Born to a family of elegant yet shallow Beige Witches, seventeen y...
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Peace on Earth
Maia RossCrime never takes a holiday. Why should Irma? Irma Abercrombie is an energetic retiree with a shadowy past, a mean right hook, and a profound love of Christmas. Surrounded by seaso...
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Pretty Little Lies
Ivy ThornFour years ago, Nicolo Marchetti took my innocence. But he left me with something else Nicolo almost took everything from me. My virginity, my reputation, and very nearly my future...
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Holy Bible
The Church of Jesus Christ of Latter-day SaintsThe 2013 edition of the Holy Bible contains all of the study aids contained in the 1979 edition and includes revisions to the study aids, several new photos, updated maps, and adju...
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Get Lucky
Lila MonroeFall for the hot and hilarious romcom spin on 'The Hangover', perfect for fans of Tessa Bailey, Ali Hazelwood, and Emily Henry! What happens when you wake up in a hotel s...
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His Own Heaven
Jennie KewWinner of the 2021 Passionate Plume Award for BDSM Romance Finalist in the 2021 Stiletto Contest for Contemporary Romance He taught her to trust, she taught him to love. Lucy Bar...
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Christmas in Sweetbriar Cove
Melody GraceCelebrate the holidays in Sweetbriar Cove with this festive romance collection, containing two sizzling smalltown holiday stories perfect for fans of Tessa Bailey, Sophie Kinsella...
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Escape, A New Life
David J AntocciTo save herself, she had to lose everything. Trapped in a tropical paradise with no memory of how she got there, Abby is thrust into a fight for her life. Hunted by a madman, and c...
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Good Guy
Kate MeaderHe's a Special Forces veteran making his pro hockey debut. She's a dogged sports reporter determined to get a scoop. She's also his best friend's widow . . . Fa...
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The Stoic Mind
Addy Osmani & GoLimitlesssDiscover the timeless wisdom of Stoicism in a modern context with "The Stoic Mind," an enlightening visual guide by Addy Osmani and GoLimitlesss. This rich exploration co...
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The Great Gatsby
F. Scott FitzgeraldAn Apple Books Classics edition. The Roaring Twenties are in full effect in F. Scott Fitzgerald’s riveting classic. Manabouttown Jay Gatsby seems to have it all, including loads of...
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Man In The Water
Jon HillAn attempted murder. A missing spouse. And an international conspiracy that could change the world. Jack Green has always been skeptical of socalled facts. Though he's forced ...
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Law of Attraction
Jordan HollisHow to Finally Overcome the Hurdles of Manifesting Proven, effective and enjoyable ways to help you manifest faster… Right now, think of something that makes you successful. If you...
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Bewitching a Highlander
Roma CordonDefying all for the love of a bewitching lass. Breena MacRae, a healer from Skye with a touch of witchery in her blood, embarks on a dangerous search for her missing father. She ar...
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Always Yours
Claire RayeSome things are just meant to be... Ellen Somerville and Will McIntyre met by accident and under unusual circumstances. Getting sprayed by a skunk in a parking lot wouldn’t normall...
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Teased by Fire
Molly O'HareFrom USA Today bestselling author Molly O’Hare comes an enemiestolovers, older brother’s best friend, romantic comedy with a curvy, antisocial, supernaturalobsessed, allyearround h...
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Meditations
Emperor of Rome Marcus AureliusMeditations is a series of personal writings by Marcus Aurelius, Roman Emperor 161–180 CE, setting forth his ideas on Stoic philosophy.
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Caught Up with the Captain
Kait NolanCan a retired naval commander and the love he left behind overcome a 34yearold secret to find their way to a second chance? Captain Mitchell Greyson is a man who believes in duty. ...
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Tempting the King
Jessa YorkAn escaped Mafia Queen, hiding from her past. A Mafia King who wants to claim her… Giselle They think I'm lostbut I know better. I can never be found. The path I've creat...
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The Target
Lexy TimmsWhen you seek revenge be sure to dig two graves… Revenge was the only thing I had going for me. It kept me awake at night and drove me into desperate situations in dive bars across...
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The Adventures of Sherlock Holmes
Arthur Conan DoyleAn Apple Books Classic You get not one, not two, but 25 gripping mysteries in Arthur Conan Doyle’s first of five collections of Sherlock Holmes short stories. Follow the brilliant ...
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Rogue Alpha
Kimber WhiteOne touch made her crave him. But the pull of fate could be the path to ruin. College student Laura Prince lands a plum internship deep in the Michigan wilderness. When she discove...
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All Fired Up
Kathryn ShayCaptain Jarek Zenko, a war veteran and firefighter, meets Lacey Roth at a bar one night. They don’t share their real identities, even when they retreat to a hotel. When they meet t...
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Once Upon A One-Night Stand
Zoey LockeAt first sight, there was electrifying chemistry.  So why not go for it? After all, Lynx Grove, the city's most eligible bachelor, wants to claim her, at least for th...
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Just Me
Lexy TimmsWe all need somewhere where we feel safe… After leaving her abusive husband, Katherine Marshall is out on her own for the first time. She's hopped from city to city to avoid t...
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Dracula
Bram StokerAn Apple Books Classic edition. Few characters have seized readers’ imaginations quite like Count Dracula of Transylvania, the hero of Bram Stoker’s classic. The 1897 novel put vam...
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A Christmas Carol
Charles DickensAn Apple Books Classic edition. It’s Christmas Eve in Victorian England. While some families don’t know where their next meal will come from, Ebenezer Scrooge sits in his large hom...
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The Count of Monte Cristo
Alexandre DumasAn Apple Books Classic edition. Alexandre Dumas’ classic paints a portrait of Edmond Dantès, a dark and calculating man who is willing to wait years to exact his perfect plan for r...
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Little Women
Louisa May AlcottAn Apple Books Classic edition. Meet the Marches! Louisa May Alcott’s classic introduces us to four unforgettable sisters: beautiful Meg, tomboyish Jo, delicate Beth, and Amy, the ...
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Teach Me
Cassandra DeanFrom awardwinning author Cassandra Dean comes a tale where lessons of pleasure between a curious, sunshine widow and a dissolute, grumpy earl leads to passion and allconsuming love...
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Wuthering Heights
Emily BrontëAn Apple Books Classic edition. If you’ve only ever seen Wuthering Heights on screen, you may have an image of Catherine and Heathcliff as the ultimate starcrossed lovers. But that...
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Hot Off the Press
Lexy Timms"This is what really happened… reported by a free press, for a free people…" Wes Shaw leads a secret double life. As the secret owner of a billion dollar newspap...
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How to Choose a Guy in 10 Days
Lila MonroeThe only thing more hilarious than the movies is… real life?! Fall in love with the sizzling grumpysunshine romantic comedy perfect for fans of Sophie Kinsella and Ali Hazlewood! ...
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Salvation
Meghan O'FlynnIf you like mouthy detectives, serial killers, and suspenseful mysteries that don't quit, this chilling and actionpacked hardboiled detective series has you covered! Try this ...
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Assisting the Bosshole
Kristin MacQueenNo hot water? Check Missed the train? Check Broke my heel? Check Dropped my coffee? Check My first day of my new job can’t possibly go worse, right? Wrong. When I meet Parker Scott...
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Masters of Restraint
Ines JohnsonMy new boss is good at giving orders. But his latest demand is NSFW. Especially when his two business partners want in on our deal. My new boss My boss’s boss Their investor &#...
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The Wonderful Wizard of Oz
L. Frank BaumAn Apple Books Classic edition. You’ve seen the iconic 1939 movie, but do you know about the talking field mice, the Winkies, and the Witch of the North that appear in the original...