Two coffees a day was enough to change the life of a boy with familial dyskinesia with facial myokymia. Thanks to this strange therapy, the eleven year old showed a 90% reduction in involuntary movements.

This allows him to walk to school, write without difficulty and even ride a bike. All things impossible for him until recently. Familial dyskinesia with facial myokymia is a disease caused by a mutation in the ADCY5 gene. Children who suffer from it have to live with involuntary movements that involve the whole body. Night and daytime crises can even worsen the situation, making a normal life impossible. To date there is no definitive cure, yet a father and daughter claim to control crises by drinking coffee.

A team from the neurology department of the Pitié-Salpêtrière Hospital and the Brain and Spinal Cord Institute decided to test the statements of the two. The doctors studied the case of an 11-year-old patient. The boy suffered from about 30 episodes of involuntary movements a day, which precluded him many normal activities for his peers.

The doctors then prescribed him a cup of espresso in the morning, one in the afternoon and a half in the evening. The sui generis treatment has almost completely eliminated the episodes, but it is not conclusive. It was enough to give the boy a cup of decaffeinated coffee, to have a total regression. By replacing caffeine in the morning routine, the symptoms of the disease disappeared again. Considering this episode, it is unlikely to be a simple placebo effect.

Source: annals.org

Due caffè al giorno, tanto è bastato per cambiare la vita a un ragazzino affetto da discinesia familiare con miochimia facciale. Grazie a questa strana terapia, l’undicenne ha manifestato una riduzione del 90% dei movimenti involontari. Ciò gli permette di andare a scuola a piedi, scrivere senza difficoltà e perfino di andare in bici. Tutte cose per lui impossibili fino a poco tempo fa.

La discinesia familiare con miochimia facciale è una malattia causata da una mutazione del gene ADCY5. I bambini che ne soffrono devono convivere con movimenti involontari che coinvolgono tutto il corpo. Crisi notturne e diurne possono addirittura peggiorare la situazione, rendendo di fatto impossibile una vita normale. Ad oggi non esistono cure definitive, eppure un padre e una figlia affermano di controllare le crisi bevendo caffè.

Un team del dipartimento di neurologia dell’Ospedale Pitié-Salpêtrière e del Brain and Spinal Cord Institute ha deciso di mettere alla prova le affermazioni dei due. I medici hanno studiato il caso di un paziente di 11 anni. Il ragazzino soffriva di circa 30 episodi di movimenti involontari al giorno, che gli precludevano tante attività normali per i coetanei. I medici gli hanno quindi prescritto una tazza di caffè espresso al mattino, una al pomeriggio e mezza alla sera.

Il trattamento sui generis ha eliminato quasi del tutto gli episodi, ma non è risolutivo. È bastato dare una tazza di caffè decaffeinato al ragazzino, per avere una totale regressione. Reinserendo la caffeina nella routine mattutina, i sintomi della malattia sono spariti di nuovo. Considerando questo episodio, è improbabile che si tratti di semplice effetto placebo.

Fonte: annals.org

Tracing sperm tail movements could improve male fertility tests and, consequently, the effectiveness of IVF. The technique was developed by researchers at the University of Birmingham and measures both the speed and the type of tail movements.

According to the researchers, analyzing the sperm's tail allows us to understand when and if they will reach the oocyte. It is therefore one step more than traditional analyzes, which almost always involve the simple sperm count. The new technique uses a combination of high-performance digital imaging, mathematics and fluid dynamics. It is available through a free software called FAST (Flagellar Capture and Sperm Tracking), so other teams can use it.

The hope is that the spread of the technique will allow us to better understand the behavior of the spermatozoa. The mathematical model of the system, developed by Dr. Gemma Cupples, analyzes the amount of energy needed for a sperm to swim to the goal. In particular, it measures tiny forces that are impossible to measure with simple experimentation. A technique that could also be applied to other areas, such as the spread of bacteria.

By measuring the actual energy of the spermatozoa, it is easier to identify any problems and prescribe ad hoc treatments. In some cases, even lifestyle changes may be enough to increase the chances of conceiving. It could therefore be an economic and less stressful alternative to the more classic IVF.

Source: independent.co.uk