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         Cri Du Chat Syndrome:     more detail
  1. Cri du chat syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith Sims, Holly, M.S. Ishmael, 2006
  2. Cri-Du-Chat Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  3. Gale Encyclopedia of Medicine: Cri du chat syndrome by Holly Ann Ishmael M.S., 2002-01-01
  4. Using Parent-Delivered Graduated Guidance to Teach Functional Living Skills to a Child with Cri du Chat Syndrome.: An article from: Education & Treatment of Children by Michael Denny, Nancy Marchand-Martella, et all 2000-11-01
  5. Cri Du Chat Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Holly, M.S. Ishmael, Rebecca, PhD Frey, 2006
  6. Cri du chat syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS, CGC Ishmael, 2005

1. The Cri Du Chat Syndrome Support Group
Information about this disease as well as a message board and a chat room.Category Health Conditions and Diseases cri du chat syndrome...... Charlotte has cri du chat syndrome. What is cri du chat syndrome ? ; Raises awarenessof cri du chat syndrome amongst the medical profession and the public.
http://www.cridchat.u-net.com/
Cri-du-Chat Syndrome Support Group
Chatroom Message board Guestbook Photo gallery ... Just for Students I've not updated the page for a while - sorry. I'm back on again now, and will be getting the backlog of pictures up soon.
The chatroom and message board are not working properly - I'm working on it, but it may take a few weeks to sort out. 24th February 2003 - Updated Laurianne and Maggie in Gallery , Added Agentinian Support Group , Added Hanna and Ishan to Gallery
3rd February 2003 - Added Lindsey to Gallery
19th September - Added Belgian Support Group
12th August - Added Gabriel to Gallery Search engines : Google Dogpile MedLine OMIM ... Quickmarch
This is Charlotte when she was six years old.
Charlotte has Cri du Chat syndrome. What is Cri du Chat Syndrome ?
Cri du Chat Syndrome ("Cry of the cat" in French) is a genetic disorder caused by the loss or misplacement of genetic material from the fifth chromosome. It was first identified in 1963 by Professor Lejeune, who also identified the genetic cause of Downs Syndrome. He described the syndrome after the sound that many of the babies and young children make when crying. This cry, along with some of the other notable features, is so characteristic of the syndrome that a doctor can usually identify the condition before a chromosome analysis has taken place.

2. The Contact A Family Directory - CRI DU CHAT SYNDROME
A description of cri du chat syndrome with details on the inheritance pattern and prenatal diagnosis.
http://www.cafamily.org.uk/Direct/c81.html
printer friendly CRI DU CHAT SYNDROME home more about us in your area conditions information ... how you can help search this site Cri du Chat Syndrome: Deletion 5p- syndrome; chromosome 5 short arm deletion Cri du Chat syndrome was first described by Lejeune et al (1963). Early research described the prevalence of Cri Du Chat syndrome as about 1 in 50,000 live births (Neibhur, 1978), although more recent estimates suggest a greater incidence of 1 in 37,000 live births (Higurashi, Masaaki et al 1990). The hallmark cat-cry is a core feature of Cri du Chat syndrome and is still regarded as an important early clinical diagnostic feature in most but not all individuals. Many infants tend to be of low birthweight and show marked hypotonia . Feeding difficulties are common and the associated failure to thrive may be the initial clinical presentation. Some infants may require enteral feeding, a process which may have to continue for several years. Certain facial and head abnormalities are also over represented: microcephaly , micrognathia, rounded face, macrostomia, hypertelorism with downward sloping palpebral fissures, low set ears, broad nasal ridge and short neck. Structural laryngeal abnormality and hypotonia are thought to be responsible for the cat-like cry.

3. The Cri Du Chat Syndrome Support Group
The cri du chat syndrome Support Group
http://www.tokyo-med.ac.jp/genet/cdcs/cdcsg.htm
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http://www.cridchat.u-net.com

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  • 4. Special Child: Disorder Zone Archives - Cri Du Chat Syndrome
    cri du chat syndrome Cri Du Chat (CDC) is a rare genetic disorder that is caused by a missing piece (deletion) in the short arm of chromosome 5 (also known as 5p minus syndrome).
    http://www.specialchild.com/archives/dz-012.html
    Disorder Zone
    Archives Cri Du Chat Syndrome
    Beth Sweeney
    Philipp Klages Introduction Cri Du Chat (CDC) is a rare genetic disorder that is caused by a missing piece (deletion) in the short arm of chromosome 5 (also known as 5p minus syndrome). Approximately 50 to 60 children are born each year in the United States with CDC. It is thought to be one of the most common human deletion syndromes with an occurrence rate of 1 in 20,000 to 1 in 50,000 live births. CDC was first identified in 1963 by Dr. Lejeune, the same physician who first wrote about Down syndrome. Features and Characteristics
    • High-pitched cry (identified as a cat-like cry) Low birth weight Poor muscle tone (hypotonia) Microcephaly (small head size) Micrognathis (small jaw) Hypertelorism (wide spaced eyes) Round face Epicanthal folds Low set ears Feeding difficulties Delays in walking Hyperactivity Scoliosis Language difficulties Mental retardation Organ defects
    Diagnosis The cry that is associated with CDC is so distinct, physicians can often make a diagnosis before a chromosome analysis is even completed. However, chromosome testing is used for a definitive diagnosis. Treatment There is no cure for CDC, however, with the proper intervention and education, individuals with CDC can lead full and meaningful lives. Speech and physical therapy may be particularly useful for children with CDC. There are varying levels of cognitive impairment - some children can succeed in a mainstream education, where others will need to be placed in a special education classroom. A recent study regarding cognitive function of children with typical CDC suggests that there was a discrepancy between receptive language skills and expressive language skills. The researchers indicate that these findings should provide optimism to parents regarding the capacities of their children, in that they can understand more complex language than what their expressive skills would suggest. Some children can learn to express themselves using short sentences, sign language, and/or gestures.

    5. Cri-du-chat Syndrome
    newsletter, telephone help line. cri du chat syndrome Group (www.cridchat.unet.com); an excellent resource on this
    http://www.mssc.edu/biology/B305/GTS/ss97/cdchat/cdchat.htm
    Cri-du-chat Syndrome
    by Lori McKinney
    Clinical Signs
  • Microcephaly, round face, micrognathia, low-set ears Severe psychomotor and mental retardation Phenotype includes a develop narrow face and a prominent nasal bridge Cry that resembles a cat sound that is a diagnostic symptom and hence the name; cry of the cat
  • Dominant autosomal trait
    Mechanism for Disease Process
  • Causes gastrointestinal problems Cardiac problems Death D. Chromosome location varies from only band 5p15.2 to entire petite arm of chromosome 5.
  • Ongoing Current Research
  • Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5 specific cDNA library; Simmons, AD, Overhauser J, Lovett M-1997 Evidence for a distinct region causing a cat-like cry in patients with 5p deletions; Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J-1995 -This abstract gives an overview on how some patients are reported as having the cat-like cry, but develop normally or only slightly abnormally. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome; Overhauser J, Haung X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ-1994 -This abstract explains how it is believed that different symptoms of CDC syndrome are caused by abnormalities on different regions of chromosome 5.
  • Help Group for Disorder
  • 5p- Society 2. General Information a. located in Overland Park, Kansas b. founded 1989 c. membership:320 d. provides information, peer support, professional consultation, support for research, educational materials e. newsletter, telephone help line
  • 6. NORD - Cri Du Chat Syndrome
    Offers the synonyms, a general discussion and further resources.
    http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

    7. The Cri Du Chat Syndrome Support Group
    CriDu-Chat Syndrome Support Group. This is the text of an article we had publishedearlier this year by a local newspaper, during National Carers Week.
    http://www.cridchat.u-net.com/ourstory.htm
    Cri-Du-Chat Syndrome Support Group
    This is the text of an article we had published earlier this year by a local newspaper, during National Carers Week. We wanted to highlight the good work that foster-parents do, instead of the usual stories about children being taken into care. We also wanted to say thank you to Mike and Sue for everything they have done for us.
    Wonderful Foster Parents
    Our daughter Charlotte was born on 31st March 1990 at Warrington General Hospital. The pregnancy had been very straight-forward until 32 weeks, when a routine ultrasound scan revealed that our baby's head was smaller than usual. I knew, because of my training, that there could be something seriously wrong with our baby. Charlotte was only 9 hours old when we were told that she had a very rare chromosome abnormality called Cri-Du-Chat syndrome.
    We were told she would probably never walk or talk, and might not be able to do much more than smile. I am a Registered Sick Children's Nurse, working in the paediatric oncology department the Royal Manchester Children's Hospital. Every day I look after children who are having treatment for leukaemia or cancer. The thought of having a child of our own with a serious handicap filled us with dread. Jeff and I did not know if we would be able to look after her. Would we be able to do all the right things for her ?. Would she be looked after better if she was adopted ?. We didn't know the answers, and needed some time to decide what was best.

    8. OMIM ENTRY 123450
    Make contacts through a list of worldwide support organizations. Includes a library, chat rooms and various resources.
    http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?123450

    9. Cri Du Chat Syndrome
    Library C D. cri du chat syndrome. Learn More About It. Cri du ChatSyndrome From the On-line Mendalian Inheritance in Man data base.
    http://www.familyvillage.wisc.edu/lib_cric.htm
    Cri du Chat Syndrome
    Who to Contact
    Where to Go to Chat with Others

    Learn More About It

    Web Sites
    ...
    Search AltaVista for "Cri du Chat Syndrome"
    Who to Contact
    5p- Society
    7108 Katella Avenue #502
    Stanton, CA 90680
    Fax: (714) 890-9112
    E-mail: fivepminus@aol.com
    Website: http://www.fivepminus.org/
    The 5p- Society encourages and facilitates communication among families having a child with 5p-Syndrome and spreads awareness and education of the syndrome to these families and their service providers. The society provides parent-to-parent matching by age and geographical location. The 5p- Society issues a bi-annual newsletter that is free to members. They have brochures, books, and articles available, and collect information on physicians who treat and study the condition and make this information available via family support coordinators.
    Cri du Chat Support Group of Australia
    5 Connal Drive Frankston, VIC. AUSTRALIA 3199 Phone: (03) 9561 8134 Fax: (03) 9791 8577 Email: maggiecdc@bigfoot.com
    Cri-du-Chat Society Department of Human Genetics Medical College of Virginia Box 33 MCV Station Richmond VA 23298 Phone: (804) 786-9632
    Cri-Du-Chat Syndrome Support Group 7 Penny Lane Barwell Leicestershire LE9 8HJ United Kingdom
    Where to Go to Chat with Others
    Learn More About It

    10. Overview
    Image Creations. We are aware of more sites on the web explaining what theCridu-Chat syndrome is. cri du chat syndrome. Cri-du-chat Syndrome.
    http://cjh.virtualave.net/cri-du-chat/overview.htm

    Matchmaker.com: Sign up now for a free trial. Date Smarter!
    Home Cri-du-Chat Links ... Image Creations We are aware of more sites on the web explaining what the Cri-du-Chat syndrome is. We will link to these sites soon, and to any new sites we find. An excellent site by Elaine Another good one by Elaine CRI-DU-CHAT SYNDROME Cri-du-chat Syndrome ... Cri-du-chat Syndrome [ Overview ] Support Stories Cry of the Cat Video Cri-du-Chat FAQ ... Contact Thia page was last updated on 02 February 2002 . Riaan Hattingh

    11. The Cri Du Chat Syndrome Chatroom
    Photo gallery Other homepages Worldwide CDC Groups Chat archives This chatroomis for families and professionals with an interest in cri du chat syndrome.
    http://www.virtualnurse.com/chat/Cri-Du-Chat/
    ChatWorld Home Holistic Search Forums ... Books
    Cri-Du-Chat Syndrome Support Group
    CDC Home Page Message board Guestbook Photo gallery ...
    Chat archives

    This chatroom is for families and professionals with an interest in Cri du Chat syndrome.
    If you are not familiar with Cri du Chat syndrome, please visit our Home Page and find out all about it. Cri du Chat syndrome is very rare, only about 1 in 50,000. This means you are unlikely to meet anyone in this room !.
    To make it easier to meet someone, we have a regular meeting here at :
    Sunday 10:00 PM GMT, = 5:00 PM EST 4:00 CST 3:00 MST and 2:00 PST
    Thursday 8:30 PM EST. You are welcome to join us then.
    Enter Your Name or Handle Here...
    Pick an Avitar Below Or Enter Your Own Handle Gif
    Let's Chat!
    Chatroom hosted by VirtualNurse

    12. MEDLINEplus Medical Encyclopedia: Cri Du Chat Syndrome
    cri du chat syndrome. mental retardation. Infants with cri du chat syndromecommonly have a distinctive catlike cry. They also have
    http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm
    Skip navigation
    Medical Encyclopedia
    Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
    Cri du chat syndrome
    Contents of this page: Alternative names Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome Definition Return to top A group of findings that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high pitched and sounds like a cat. Causes, incidence, and risk factors Return to top The cri du chat syndrome is caused by the deletion of information on chromosome 5. The cause of this rare chromosomal deletion is not known, but it is expected that the majority of cases are due to spontaneous loss of a piece of chromosome 5 during development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation. Between 1 in 20,000 and 1 in 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. Infants with cri du chat syndrome commonly have a distinctive cat-like cry. They also have an extensive grouping of abnormalities with severe mental retardation being the most important.

    13. Cri Du Chat Syndrome Lainey's Page
    As the proud mother of a child with cri du chat syndrome (and trisomy 11q as Ihave just found out!!!!) I aim to provide up to date information about the
    http://members.tripod.com/~yenial/rainbow.html
    last update 9th June 2000 - added Heather and Ken's story. previous update 1st May 2000 - added FAQ's to the student's page. previous update 21st April 2000 - added Chandra's story, and a link to European 11q network. previous update 19th April 2000 - added some more links on the links and friends pages previous update 19th April 2000 - added pictures from the 1999 UK conference... at last!
    For Sam
    As the proud mother of a child with Cri du Chat syndrome (and trisomy 11q - as I have just found out!!!!), I aim to provide up to date information about the syndrome through my experiences and those of others.Click on the rainbows to access other pages.
    Meet my Son Sam and find out what it is like to have a child with severe learning difficulties. Read inspirational writings which have helped me on my way. Meet the rest of the family here. Meet Maria , a little girl who is doing extremely well and astounding everyone. She is nearly 4 and lives in England.Thanks Heather! Meet Breanna from Atlanta Georgia. Thanks Cheri! Meet Mingge from Singapore. Thanks Goh Leng!

    14. The DRM WebWatcher: Cri-Du-Chat Syndrome
    cri du chat syndrome This article from WebMD provides an overview of the syndrome,briefly covering causes, incidence, risk factors, symptoms, signs and tests
    http://www.disabilityresources.org/CRI.html
    Home WebWatcher Regional Librarians ... Contact Us The DRM WebWatcher Cri-Du-Chat Syndrome Updated 5/31/2001 A B C D ... About/Hint/Link
    Cri-du-Chat Syndrome, also known as 5p- Syndrome (five p minus) or Cat Cry Syndrome, is a rare genetic disorder characterized at birth by a high pitched cry, low birth weight, poor muscle tone, and other anomalies. For information about Cri-Du-Chat syndrome, check these sites.

    5p- Society
    This organization provides information about the syndrome, the organization's services, and other resources, including organizations, articles, publications and products.
    Cri Du Chat Support Group of Australia
    This Australian support group provides general information about the syndrome and the group, as well as an extensive list of related links and resources. There is also a list of international groups and contacts, a chatroom, and a messageboard.
    Cri Du Chat Syndrome
    This article from WebMD provides an overview of the syndrome, briefly covering causes, incidence, risk factors, symptoms, signs and tests, treatment, and related topics.
    Cri Du Chat Syndrome
    A short technical overview from the Pediatric Database (PEDBASE).

    15. Sindrome Cri Du Chat Syndrome Bambi
    Sindrome Cri Du Chat cri du chat syndrome http//www.rcs.re.it/abc/icitaz.htm http//www.criduchat.it/giornale/gio1/lasin.htmhttp//space.tin.it/associazioni
    http://fastnet.it/enti/bambi/sindrome-criduchat.htm
    Sindrome Cri Du Chat Cri Du Chat Syndrome
    http://www.rcs.re.it/abc/icitaz.htm

    http://www.criduchat.it/giornale/gio1/lasin.htm

    http://space.tin.it/associazioni/itoffan

    http://utenti.tripod.it/medge/cdc.htm
    ...
    http://www.farmaciaonline.it/criduchat.htm
    ASSOCIAZIONE BAMBINI CRI-DU-CHAT
    Via Machiavelli 56, 50026 San Casciano in Val di Pesa (FI)
    tel. e fax. 055/828683 Prof.ssa P. Cerruti Mainardi, Ospedale S.Andrea, c.so Abbiate 21,
    13100 Vercelli, tel (0161) 5931
    http://www.cridchat.u-net.com/

    http://cjh.virtualave.net/cri-du-chat/
    http://au.yahoo.com/Health/Diseases_and_Conditions/Cri_Du_Chat_Syndrome http://www.familyvillage.wisc.edu/lib_cric.htm ... http://www.galaxy.com/galaxy/Community/Health/Family-Health/Womens-Health/Pr egnancy-and-Birth/Birth-Defects/Cri-du-Chat-Syndrome.html http://home.vicnet.net.au/~criduch/ http://members.tripod.com/~yenial/rainbow.html http://www.u-net.com/~cridchat http://mitglied.tripod.de/cdc/index-english.html ... http://english.hk.dir.yahoo.com/Health/Diseases_and_Conditions/Cri_Du_Chat_S yndrome http://www.biotech.ist.unige.it/cldb/pat170.html

    16. Cri Du Chat Syndrome
    . Dr.Jerome Lejeune first described cri du chat syndrome in 1963. The...... cri du chat syndrome. Definition. Cri du disorder.
    http://www.healthatoz.com/healthatoz/Atoz/ency/cri_du_chat_syndrome.html
    Encyclopedia Index C Home Encyclopedia Encyclopedia Index C Cri du chat syndrome
    Definition
    Cri du chat syndrome occurs when a piece of chromosomal material is missing from a particular region on chromosome 5. Individuals with this syndrome have unusual facial features, poor muscle tone(hypotonia), small head size (microcephaly), and mental retardation . A classic feature of the syndrome is the cat-like cry made by infants with this disorder. Description Dr. Jerome Lejeune first described cri du chat syndrome in 1963. The syndrome is named for the cat-like cry made by infants with this genetic disorder. Cri du chat means "cry of the cat" in French. This unusual cry is caused by abnormal development of the larynx (organ in the throat responsible for voice production). Cri du chat syndrome is also called "5p minus syndrome" because it is caused by a deletion, or removal, of genetic material from chromosome 5. The deletion that causes cri du chat syndrome occurs on the short or "p" arm of chromosome 5. This deleted genetic material is vital for normal development. Absence of this material results in the features associated with cri du chat syndrome. A high-pitched mewing cry during infancy is a classic feature of cri du chat. Infants with cri du chat also typically have low birth weight, slow growth, a small head (microcephaly) and poor muscle tone (hypotonia). Infants with cri du chat may have congenital heart defects. Individuals with cri du chat syndrome have language difficulties, delayed motor skill development, and mental retardation. Behavioral problems may also develop as the child matures.

    17. Cri Du Chat Syndrome
    HOME cri du chat syndrome (Cat Cry Syndrome, Monosomy 5p). Pathology cridu chat syndrome; Cridu-Chat; The cri du chat syndrome Support Group;
    http://www.bdid.com/criduchat.htm

    HOME
    Cri Du Chat Syndrome (Cat Cry Syndrome, Monosomy 5p)

    HOME

    18. Cri-du-chat Syndrome - The Knowledge Database Of The Swedish National Board Of H
    Individuals with cri du chat syndrome often have concentration difficulties,and hyperactivity is very common. Niebuhr E. The cri du chat syndrome.
    http://www.sos.se/smkh/2001-110-16/2001-110-16.htm
    Socialstyrelsen
    106 30 Stockholm
    e-post

    With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions.
    Cri-du-chat syndrome
    Cat-cry syndrome
    5p- minus syndrome
    Table of Contents:
    The disease/injury/diagnosis
    Incidence

    Aetiology of the disease/injury

    Heredity
    ...
    Database references

    Dokument date: 2002-04-30
    Version: 2.2 Article number: 2001-110-16 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require.
    The disease/injury/diagnosis
    Cri-du-chat syndrome. Synonyms: 5p-minus syndrome, cat-cry syndrome.

    19. Cri Du Chat Syndrome
    Genetic Disorder Corner Home Genetic Disorder Corner What Can OurChromosomes Tell Us? cri du chat syndrome cri du chat syndrome.
    http://gslc.genetics.utah.edu/units/disorders/karyotype/criduchat.cfm
    Genetic Science Learning Center at the Eccles Institute of Human Genetics
    University of Utah

    Home
    ... What Can Our Chromosomes Tell Us? Cri du chat Syndrome
    Cri du chat Syndrome
    Cri du chat is a rare syndrome (1 in 50,000 live births) caused by a deletion on the short arm of chromosome 5. The name of this syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, which becomes normal within a few weeks of birth. Infants with cri du chat have low birth weight and may have respiratory problems. Some people with this disorder have a shortened lifespan, but most have a normal life expectancy. Where does the abnormal chromosome 5 come from? In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm. Additional Resources The Five P Minus Society

    20. Cri-du-Chat (5p-)Syndrome
    site http//www.vicnet.net.au/~criduch/ cri du chat syndrome SupportGroup, United Kingdom; 5p Family Support Services, Canada;
    http://www.kumc.edu/gec/support/cri-du-c.html
    Cri-du-Chat (5p-)
    5p- Society (Cri-du-Chat)
    11609 Oakmont Overland Park, KS 66210 Phone: (913) 469-8900 E-mail: fivepminus@aol.com Web Site: http://www.fivepminus.org/
    Cri Du Chat Support Group of Australia
    5 Connal Drive, Frankston, VIC 3199 E-mail: maggiecdc@bigfoot.com Web site: http://www.vicnet.net.au/~criduch/
    Also See:

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