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Christmas disease

Haemophilia B (also spelled Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal. Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. more...

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Genetics and pathophysiology

The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is inherited X-linked recessive, which explains why - as in haemophilia A - only males are generally affected.

Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.

Reference

  • Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952;2:1378-1382. PMID 12997790.

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A white-knuckle Christmas: this holiday season, sugarplums won't be the only things dancing in our heads. PT considers the 12 neuroses of Christmas - Holiday
From Psychology Today, 11/1/03 by Bruce Kluger

Over the years, self-help authors have bent themselves into a pop-psych pretzel trying to identify and cure a battery of seasonal ailments--from the midsummer doldrums to spring fever to back-to-school blahs. What surprises me is that, with all this credentialed attention paid to the emotional distresses that seem to come and go with the equinoxes, nowhere has there been a serious exploration of Thanksgiving-to-Christmastime angst.

Oh, sure, you've read the homespun tips for coping with the upcoming seasonal stress (e.g., relentless familial interaction, gift-giving anxiety, Bowl Game viewing selection). But where is a down-and-dirty checklist of those real turkey-to-mistletoe neuroses--you know, the ones that linger in the pit of your stomach like a lump of coal in the toe of a stocking?

Having celebrated 47 Christmases in my lifetime--18 of them as the youngest son in a Jewish family, 19 as a carefree agnostic and the past ten holed up in the guest room of nay Episcopalian in-laws' house in Cleveland--I know a thing or two about how the yuletide brings out the fruitcake in all of us.

Deck the halls, America. Carefully.

Orderline Personality Disorder (OPD): The inability to stop calling 1-800 numbers in pursuit of last-minute holiday sales. Hopelessly devoted to low-budget, late night infomercials--and secure in the knowledge that operators are, indeed, standing by--OPD sufferers commonly exhibit three telltale symptoms of their buy-by-phone disorder: an unusually flat ear; the inability to recite numbers without also mentioning a cardholder name and expiration date; and a sudden addiction to 3 a.m. reruns of Three's Company on Nick at Nite. (Technophobes who still oval rotary phones also run the risk of developing Carpal Tunnel Syndrome.)

Ho-Ho-Phobia (HHP): A profound fear of rotund, bearded men in red suits and black boots. HHP outbreaks usually surface in late November, when sufferers begin to report frequent sightings of their most feared apparition on street corners, in shop windows and on TV commercials for local car dealerships. Often referring to these men as Santa Claus, St. Nick or "chortling fatboy," the afflicted appear most unsettled by what they call "department store Santas," whom they insist "are constantly surrounded by cranky little men in green outfits who keep glancing at their watches." (See following related disorders.)

North-Polar Disorder (NPD): The chronic fear that someone is on the roof.

Blitzen Fits (BF): Uncontrollable tantrums resulting from the belief that reindeer have befouled one's driveway.

Calendar Countdown Condition (CCC): An unyielding obsession with how many shopping days are left until Christmas. Constantly reaching for Palm Pilots and notepads, CCC sufferers feel a pressing need to absorb and retain a daunting litany of time zones, store hours and driving mileage in support of their shop-or-drop obsession. "It's amazing," notes Harvard University's Arnold Belfry, who has studied CCC. "Some of these people can't even balance their checkbooks. But can they number-crunch the time it takes to get to the Radio Shack on Route 40? Down to the millisecond." CCC is most commonly found among former math majors, chronic coupon-clippers and old ladies who still use tiny change purses.

Saksual Dysfunction (SD) (also known as Saks Addiction): A disabling sense of disappointment upon receiving a gift that wasn't purchased at Saks Fifth Avenue. Unable to control winces, grimaces and stony pouts after opening their presents, SD sufferers were previously thought to be incurable. Yet new hope emerged last year when, in an experimental trial, Geraldine Koop of Bellport, Long Island, was gradually exposed to lesser-quality Christmas gifts during a two-week period. Successfully uttering half-convincing thank-yous after receiving a toaster oven from Macy's and a pair of Isotoner driving gloves from the Fashion Bug, Koop was pronounced entirely cured when she actually screamed, "Just what I've always wanted!" after getting a Weed Whacker from Wal-Mart. (See following related disorder.)

Angoraphobia CAP): A chronic fear that cousin Harriet from Omaha sent you another homemade sweater for Christmas.

OCD-AAA: A variation on obsessive-compulsive disorder, in which sufferers are constantly on the verge of panic for fear that they forgot to buy triple-A batteries for their kid's Game Boy. Although researchers once believed OCD-AAA was chiefly a male syndrome passed from father to son, new data point to a variant in married women. Currently classified OCD-BVD, the affliction manifests in wives' inability to choose between boxers and briefs when underwear shopping for their spouses. (Further studies are currently being conducted under a joint grant from the AMA, NIH and the Fruit of the Loom Foundation.)

Semitic Phlegm Syndrome (SPS): The inability to make the guttural, Hebraic ch sound when pronouncing the word chanukah. Primarily afflicting children, gentiles and seriously lapsed Jews, SPS sufferers become paralyzed with fear that a passing remark about chanukah at the dinner table will cause them to launch unexpected throat projectiles into the mashed potatoes. Sufferers typically isolate themselves from family members during spontaneous 'round-the-piano sing-alongs, particularly during the number "(C)happy (C)holidays."

Tongue-lied Terror (TTT): The inability to speak normally in the presence of one's in-laws at the holiday dinner table. Often referred to by its clinical name, "selective relational mutism," TTT renders sufferers with a sudden loss of speech during family meals, primarily when potential in-laws make such passing inquiries as, "So what are your intentions?" "How soon can you give us grandkids?" and the more pointed "How much did you say you make?"

Dick Clark Syndrome (DCS): Named for the American entertainer most famously associated with New Year's, DCS encompasses a host of fixations in which celebrants find their calendar-turning revelry marked more by lid-flipping than cork-popping. Sub-ailments include Fez-o-Phobia, a fear of silly paper hats; Midnight Madness, the dread of being kissed as the clock strikes 12 by a slobbering stranger with beer breath; and Synustis, the inability to accurately define the words auld, lang and/or syne.

Walking Winter-Wonderland Disease (WWW): The inability to be giddy or mirthful at the sight of a new snowfall. Constantly complaining about fire clatter of snow chains and expressing a sudden need to shovel tire walk, the WWW-afflicted often remain debilitated by this wet-white-blanket disorder until the first spring thaw. For further information on WWW disease, log on to the national Web site at www.www.edu.

COPYRIGHT 2003 Sussex Publishers, Inc.
COPYRIGHT 2003 Gale Group

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