New day in the XII Reunion of Minority Nurses

Mesa redonda de la XII Reunion de Enfermedades Minoritarias.

Dentro de las minority minorities there is a specific type, known as lysosomal pathologywhich are produced by the malfunctioning environment of los lysosomas, mainly debito problems with the enzymes that contain. In a new mesa redonda de la XII Reunion of Minority Enfermedasorganized by la Sociedad Española de Internal Medicine (SEMI), the factories of Fabry, Pompe, Gaucher and the deficiency of Esfingomielinasa acid have been destroyed. La mesa ha sido moderada por Leticia Ceberio Hualdeintegrative of Internal Medicine of Hospital University of Crucesin Vizcaya.

The ability to detect new Fabry mutations

Jorge Gómez Cerezo, integrant of the Internal Medicine Service of Infanta Hospital Sofiain Madrid, support that patients with la enfermedad de Fabry “they have characteristics such as for example a crisis of pain at the level of vistatrastornos como sudoración, lesiones cutáneas vascular clarament, etc. You can generate cardiac injury in the form of hypertrophy and chronic renal failure, in addition to cerebral vascular injury. In the diagnostic, any additional information that converges with the diaphragm is a classic Fabri, but that can follow conjugating new mutations. All of these features are more visible varones, algún group of women can have problems in the genotypic classification. Los Organs diana son el Corazon fundamentally and in action el Rino o ambas. Algunos authors created that hay cerebral enfermedadpero is an excuse “.


Gómez: “Diana’s organs are fundamentally and fundamentally the same”


For another part, Gómez hace hincapié en cómo actuar to reduce the dudes that can be used as a surrogate in relation to the phenotype: phenotype dejan de ser inciertos. If you are a geneticist and expert consultant, the candidacy of each of these is minor. Creo que describe the phenotype it is a clinical position and it is only tended to be dual and mantenemos it is of rational and non-radical form “.

Pompe enfermedad se granteza gracias al tratamiento

The patient’s mane in Pompe’s diary is explicitly per Josep Grau Junyentmember of Internal Medicine Service del Barcelona Clinical Hospital. “In a study evidenced that in Spain the majority of these cases are concentrated in Andalusia y Catalonia. “In the diagnosis of dermatitis, the determination of tardía deformity in inferior extremities, which is the most frequent, is associated with respiratory problems.”

For the respect of home therapy, the Hospital Sant Joan de Déu tiene dos patients que esta semana recibirán ya su second home infusion. “One of the diagnosed patients lasted 15 years and 73 years, performing 12 years of treatment. Do not show the natural history of the nursing home ralentiza gracias al tratamiento. “We observe that the patient suffers from an accumulation of fat in the tongue.” The woman was shocked that the investigation had been advanced and that a group of newcomers had been advancing and had “started, the Separ petition, a crib in Pompeii’s office, as well as the study Pompenyol”.

A firm initiates the first line treatment in Gaucher

Oral treatment in the nursery Gaucher type 1 in the adult is analyzed by part of Miguel Torngel Torralba Cabezaintegral of the Internal Medicine Service of Lozano Bleza University Hospital, in Zaragoza: “Patients with this disease suffer from significant asphyxia and predominance of anemia. We have to diagnose, quantify the phenotype, plant objective therapeutic and individualize the treatment. Currently, one of the objectives is to prevent some parameters, as well as to avoid speciation ”.

One of the pharmaceutical companies by part of the specialist has either eliglustadwhich has been approved as oral treatment first line in Europe. In this respect, Torralba affirms that “the criteria for initiating treatment with the patient should valorarse of individualized form and to follow the therapeutic objectives short and long distance. “On the other hand, it is recommended to validate the indications of each form before initiating the treatment”.

Impulse a precise initial evaluation at Fabry for sex

If the most relevant aspects of Fabry’s contract are contested by prioritization, Rosario Sánchez Martínezspecialist in Internal Medicine Multidisciplinary Unit of Baja Prevalence Enfermedadescommenting that “as part of an investigation hypothesis, there is a clear evidence in the literature that the students referred to frequency frequency for interventions Diagnostico and treats with menos aggression que los hombres. The Fabri embryo is ligated to the X chromosome and the phenotype in the female is highly variable. Existing dos phenotype types, el classic y el late-onset. The difference from the classic, the beginning of what the words mean is 40-70 years old, they use cardiovascular and habitual phrases affecting a single organ ”.


Sánchez: “It is necessary to treat men and women to impulse an accurate precise evaluation”


One of them afectaciones found in the woman and who is the most frequent son, tal and as affirmation of the specialist, “type gastrointestinal, as for example abdominal pain and diarrhea. There must also be an impact on the peripheral nervous system. It is necessary to treat men and women to impulse one precise initial evaluation. With this initial photo of the nurse we have to search for precise signs to avoid the therapeutic vent and take care of the natural evolution of the nurse ”.

Enzyme replacement therapy therapies for esophageal acidosis

Finally, the hematologist Jesus Villarrubiadel Ram Universn y Cajal University Hospital of Madrid, has taken its perspective on novels in the sphincter deficiency’s acid deficit. “It treats an infestation provoked by a mutation in a gene that is considered rare, progressive and fatally frequent, provoked by the accumulation of sphingomyelin. creo que haya more than 40 casos “.

The classification is realized at the moment esfingomielinasa se divide en three types mencionados por Villarrubia: “Tenemos la nurovisceral infantilla crónica and the type intermediate. The affected gene is SMDP1 on chromosome 11. clinical presentation. How all lysosomal enfermedons are treated multisystems. There is currently no treatment available for this purpose, but it is currently in the enzyme replacement therapy”.

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