In fluke experiment, espresso quells rare genetic disease

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Updated 11 June 2019

In fluke experiment, espresso quells rare genetic disease

  • ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure
  • The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy

PARIS: A lot of people say they cannot live without coffee, but for one 11-year-old boy living in France, that may be literally true.
When his parents accidentally bought decaffeinated capsules recently, a rare genetic muscular disorder — which they knew could be held in check by two shots of espresso per day — flared up, provoking uncontrollable and painful muscle spasms.
Four days of agony, anguish and doctor’s visits followed before his parents realized their mistake.
Once the boy started drinking the caffeinated brew again, the symptoms subsided.
“It’s one of those amazing cases of serendipity that dot the history of medicine,” said Emmanuel Flamand-Roze, a doctor at Pitie-Salpetriere Hospital in Paris and lead author of a study published Tuesday about the disease afflicting his patient.
Unwittingly, Flamand-Roze told AFP, the parents had carried out what scientists called a double-blind placebo experiment — the most rigorous test possible to see if a drug or treatment actually works.
The “double blind” part means that neither the patient nor the persons carrying out the experiment know whether the medicine is the real thing or an inert fake.
In this case, the accidental test proved the efficacy of caffeine as a treatment of dyskinesia — a family of disorders characterized by violent, involuntary muscle movements — caused by a mutation in the ADCY5 gene.
“The arms, legs and face all move wildly,” Flamand-Roze explained.
“This child couldn’t ride a bike, walk home from school, write with a pencil — a seizure-like crisis could strike at any time.”
ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure.
The gene in its normal state provides instructions for making an enzyme that helps to regulate muscle contraction.
The mutation disrupts that process, and caffeine helps to restore it.
Doctors had long known that strong coffee helps quell the muscle spasms, but the condition is so rare that there are not enough patients to conduct an experiment in which one group take the “medicine,” and another imbibes a look-alike — in this case, a taste-alike — placebo.
Such an experiment would, in any case, probably raise ethical issues, since researchers would know ahead of time that the placebo group would likely suffer severe discomfort.
The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy.
The symptoms typically appear as sudden jerks, twitches and tremors, and writhing, and usually begin between infancy and late adolescence. The movements can occur during waking hours or at night.
The problem can also strike internally with the respiratory muscles.
The study was published in the US-based Annals of Internal Medicine.

Arabs in Paris showroom to highlight Mideast talent at fashion week

Updated 27 September 2020

Arabs in Paris showroom to highlight Mideast talent at fashion week

DUBAI: Paris Fashion Week is set to look a lot different this season. Kicking off on Sept. 28, only a handful of designers are staging physical shows while the rest are opting for digital presentations. Meanwhile, some designers, including Arab couturier Zuhair Murad, are opting out of showing collections this season entirely.

To ensure that Arab design talent gets the recognition they deserve this Fashion Week, the Fédération de la Haute Couture et de la Mode has teamed up with the Arab Fashion Council to host an exclusive showroom and presentation on the official Paris Fashion Week calendar that shines a light on Middle Eastern designers.


Today the Arab Fashion Council (AFC) has announced a new exciting project which aims to connect the Arab talents with the French fashion industry. The new initiative, titled “Arabs in Paris”, is a collaboration between the Arab Fashion Council (AFC) and the Fédération de la Haute Couture et de la Mode (FHCM) @fhcm aiming to enable the Arab designers to showcase their creativity officially in Paris Fashion Week’s calendar for spring/summer 2021. @parisfashionweek #ArabsInParis Aujourd'hui, l'Arab Fashion Council (AFC) a annoncé un nouveau projet passionnant qui vise à connecter les talents arabes à l'industrie française de la mode. La nouvelle initiative, intitulée “Arabs in Paris”, est une collaboration entre le Conseil arabe de la mode (AFC) et la Fédération de la haute couture et de la mode (FHCM) visant à permettre aux créateurs arabes de montrer officiellement leur créativité dans le calendrier de la mode de Paris pour la semaine. printemps / été 2021.

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The goal of the initiative, titled “Arabs in Paris,” is to not only spotlight the fashion talent from the region on a global scale, but to also connect designers with international media and buyers.

Participating designers include Lebanese design duo Azzi & Osta, Beirut-based footwear brand Pose Design, Esmod graduate Aboud Jammal, Lebanese womenswear label Ecaille, New York- based handmade jewelry brand Saad Collection, Jordanian ready-to-wear label Mada’En and Emergency Room Beirut, a clothing store based in Lebanon’s capital.


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“The project is in line with the Arab Fashion Council’s vision to build an Arab economy based on creativity and to promote the Arab talents on a global scale,” said Mohammed Aqra, chief strategy officer of The Arab Fashion Council in a statement. “This is the first strategic alliance project with our French counterparts.”

The showroom, which will open its doors from Sept. 30 to Oct. 5, 2020, will highlight the designer’s Spring 2021 collections and will be situated in Paris’s Rue Saint-Honore, adjacent to luxury shops like Dior, Fendi, Celine and more.

“Arabs in Paris” follows in the footsteps of other initiatives launched recently aimed to provide a global platform for regional talents.

In August, a virtual pop-up supporting 16 established and emerging designers from the Middle East and North Africa titled “Eastwave” launched online and featured a curated selection of brands spanning from ready-to-wear, accessories and jewelry, such as Egyptian accessories label Alliel, Dubai-based womenswear label Mrs Keepa and Lebanese womenswear brand Jessica K.