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Ereditarietà della Malattia Celiaca

Celiac disease is transmitted to children? How?

If you did, a doctor, a question like that, I guess that the answer was not very understandable.

Me too, until I studied a bit of genetics at the university, I had very clear ideas.

speech is actually a fairly simple and involves genes, but not limited to those.

As we saw in the post and Celiac Disease HLA , even if you possess the genes called "typical" of celiac disease, That does not mean that the disease has been unleashed, as well as not to get to 100% does not rule out that there could be ill.

There is a first major subdivision of genetic diseases:

• monogenic (single gene mutation)
• multifactorial (non-Mendelian or complex, in which there are many genes and is stronger than the influence of environmental).

In the former, the presence of a single gene is absolutely a given diagnosis. Not only that. The diagnosis can be performed at birth (or even prenatal).

It 's the case of diseases such as thalassemia (or Mediterranean anemia), o meno gravi, come l'albinismo.
E' possibile anche prevedere l'ereditarietà della malattia, tramite le leggi di Mendel [1].

Nelle seconde invece, i genti che vengono coinvolti sono moltissimi e quasi sempre non si conoscono tutti.
Assolutamente nessuno di questi geni è necessario o sufficiente per sviluppare la malattia; la loro presenza aumenta solo la probabilità di svilupparla.

Lo scatenarsi o meno della malattia dipende da meccanismi ambientali, esterni al DNA, in grado di attivare i geni coinvolti.

I geni infatti, anche se presenti, devono essere "attivati" o, in gergo, "espressi".

Coeliac disease and autoimmune diseases such as autoimmune thyroiditis, rheumatoid arthritis, Crohn's disease, etc. .. are multifactorial diseases.

Inherit the Celiac or not, is not currently expected, since this disease does not follow the Mendelian rules.

Carry an intervention by Prof. Maria Cristina Mazzilli (Professor of Genetics, La Sapienza University in Rome) to the AIC Conference on Celiac Disease of 07/03/2009 [2] [3].

Professor speaks in the first part of how to interpret the data and HLA in the second, provides the results of a search, always on HLA.
In summary, research reports that HLA covers only 40% of cases of disease while other HLA genes may play a role in the development thereof.

In this study, a cohort of children and controls, it is evidenced that:

• 81% of these cases had the DQ2 DQ8
• 10% 9% this
• neither the one nor the other.

Of this 9% (nearly 1 in 10), 6% dimer only the DQB1 * 02, 2% had only the dimer DQA1 * 05, while the remaining 1%, none of the known dimers.

The risk, therefore, made up by having a positive HLA consists in 'having about 51% more likely to contract the disease than those without predisposing genes.

And, as we have seen, have a gene does not mean that it is "active".
gene activity is given by the adjustment mechanism. And
'This is the mechanism currently most studied in genetics.

[1] http://it.wikipedia.org/wiki/Gregor_Mendel
[2] http://www.youtube.com/watch?v=IM9QNxYt5uQ
[3] http://www.youtube.com/watch?v=CScfVBWITLU

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Vaccino influenza A (H1N1) e Celiachia

Here the text of the statement of Professor Umberto Volta, CSN President AIC (Italian Celiac Association), concerning the problem of vaccination against influenza A for people with celiac disease.

This notification is given in full by the official website of the Italian Celiac disease [1].

"The advice that, as president of the CSN-MA, I would give the gluten is to get vaccinated in the presence of underlying conditions that increase the risk of infection, poor response to the diet on the clinical and in the presence of risk factors related to age, pregnancy and work- (tutti indipendenti dalla celiachia), mentre per la stragrande maggioranza dei celiaci a dieta aglutinata stretta la decisione di vaccinarsi rimane del tutto personale in quanto il rischio di contrarre l'infezione suina è paragonabile a quello della popolazione generale non celiaca.
Altresì è sconsigliato qualsiasi tipo di vaccinazione (se non strettamente necessaria) nella fase florida della celiachia quando ancora sono presenti elevati titoli di anticorpi antritransglutaminasi ed antiendomisio circolanti prima che sia trascorso un congruo periodo di dieta senza glutine.”

[1] http://www.celiachia.it/faq/faq.asp?idcat=6&idpag=132

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Celiachia: cosa fare dopo la diagnosi?

As you know, this blog is an operation from patient to patient, and born of the belief that to move in the celiac condition, or suspect that both must share the maximum information.

The purpose is not to cure us alone, as some doctors fear often suspicious sites, forums and blogs like this.
But, conversely, to understand what is the right way to arrive at a diagnosis and then live with this disease.

E 'then why we stress that after the diagnosis, attention should not decrease.
Analysis, and visited not be exhausted by it.

There is a protocol, called "follow-up [1]" to be followed by the newly-diagnosed celiac disease and that the centers of excellence (hospitals which, along with high experience on this disease, you also have a team of doctors of various specializations) are running.

The Protocol was born from the work of the Scientific Committee Country AIC, Volta and co-ordinated by Prof. Prof.Greco and controlled by committees of national experts and ministry.

born not only for the follow-up, but also for diagnosis.

The protocol for follow-up for celiac disease [2]:

to run:

• Verifica correttezza della dieta (errori involontari)
• Complicanze per la diagnosi in età adulta
• Insorgenza di patologie autoimmuni associate
• Complicanze metaboliche o neoplastiche

Come si svolge:

• Primo controllo a 6 mesi dalla diagnosi.
• Successivi a 1-2 anni

Si tratta solitamente di una visita medica con intervista dietetica ed alcuni esami.

Controllo di I livello

Fra quelli possibili, elenchiamo le analisi di:
ferritina, emocromo, acido folico, altri test di assorbimento, antitransglutaminasi (TTG) IGA (IgG in cases of IgA deficiency) values \u200b\u200bfor thyroid, but not only TSH, T3 and T4, also of specific antibodies of autoimmune thyroiditis, and thyroid peroxidase antibodies (AcTPO), thyroglobulin antibodies (ACTG)

Control Level II

are carried out also controls metabolism.
As often about 2 years from the diet can be a syndrome of fatty liver, as well as ultrasound of the liver transaminases you do the analysis.
immunological tests.
tests to check that there are excessive increases in body mass, due to better absorption or psychological compensation in the amount of food.
Densiometria bone (In adults).
thyroid ultrasound and abdominal and / or barium enema examinations are useful.

When you do not make the second endoscopy with multiple biopsies after a period of diet, except for special cases.

Clinical improvement (reduction and absence of symptoms) and examinations will not make this practice necessary.

[1] http://www.fondazioneceliachia.it/doc_din/tocollo_diagnosi_followup_celiachia.pdf
[2] http://www.youtube.com/watch?v=Nk4S9Hd11a0