Archive for June, 2009
Down syndrome
The Down syndrome, also known by the name of trisomy 21, was described for the first time in 1866 by English physician John Langdon Down. Le Jeune to identify, in 1959, the cause of its occurrence in an abnormality of chromosome 21.
More precisely, there are three types of chromosomal abnormalities (all still on chromosome 21) which result in final Down syndrome: in 95% of cases are present in every cell in the body three chromosomes 21 (one more than normal), a rather small number of individuals instead presents a mosaic form of the syndrome, for which only some cells have three copies of that chromosome, finally, just rarely, trisomy 21 is caused by a chromosomal abnormality called Robertsonian translocation in which a fragment of chromosome 21 is joined to another chromosome, usually on 14 or 22. Individuals are healthy carriers of this anomaly but have a high probability of generating a child with Down Syndrome (speaking here of Down Syndrome family).
People with this syndrome have characteristic features such as round face, short nose, eyes cutting eastern narrow nasal bridge, epicanthal folds (skin-fold the inner corners of the eye), small ears, fingers and neck, stubby, shorter than the average. The syndrome includes medical complications including heart disease, increased susceptibility to infection due to a partial deficiency of the immune system, susceptibility to leukemia, low vision and hearing impairment, spinal anomalies, hypotonia of muscles. There are mental retardation and language problems.
Thalassemia and new therapies
The waves of immigration from countries of southeast Asia such as the Middle East, India, Egypt, Africa are promoting the return of congenital hereditary, endemic in countries of origin, which need to be further developed by us . When we speak of congenital, it means all those forms that involve red blood cells both in shape, size and number.
Gemini Fiorelli, director of the Department of Internal Medicine Ospedale Maggiore is a ‘business unit mainly to the care of two particular types of congenital anemia: thalassemia and the hemoglobinopathies. Professor Maria Domenica Cappellini, director of the Center congenital IRCCS Ospedale Maggiore, Mangiagalli e Regina Elena, important centers in the Lombardy region says with certainty that in the next 15 years these forms of anemia are a serious health threat worldwide.
The thalassemia (from the Greek thalassa = sea), better known as Mediterranean anemia or microcitemia just endemic to the characteristics that distinguishes it, also involves a number of Italians who, if struck in the most serious as beta thalassemia major requires, since the early months of life, blood transfusion continue to be coupled with iron chelation therapy daily, every patient needs an average of 2-3 units of red blood cells to be taken every 15/20 days to maintain a hemoglobin level correctly, it cannot also neglect the iron-chelation therapy to remove the excess iron accumulated in your body.
So are people who will always need assistance and for which, it is the case of say, blood is life. Then not only children but also adults, for which, due to improved therapies, it is increasingly possible to make a normal life, in particular the introduction of a new oral medication to treat iron chelator, deferasirox (available from a few months even by us) predisposes patients and their families to a more serene life.
The drug was registered in the United States in November 2006 and approved by the EMEA in spring 2007, is available in a hospital and is taken only once a day. We are in expectation that the research discovers more and more effective therapies for patients’ lives.
Overcoming bulimia. The multidisciplinary approach as treatment of choice
The bulimia is an eating disorder that may present a course controlled from a single episode resolved quickly at the structure of a chronic form with a moderate risk of death from medical complications or suicide.
Treatment of eating disorders like anorexia and bulimia, presents several difficulties related to the attitude of patients usually deny the disease and lack of collaborative and often have, concurrently, other psychiatric disorders of interest besides a high risk of suicide. In most cases the treatment is outpatient. It requires hospitalization when outpatient treatment is inadequate, there are significant electrolyte disturbances, the patient has serious co morbidities in mental illness, are at risk of suicide, or you must get her away from pathological family relationships.
In any case it is essential that intervention is calibrated according to the specific needs of the patient.
The most effective treatment is undoubtedly the one to multi-disciplinary approach because, especially in the early stages, you need the backing of several health professionals. First it is necessary to evaluate the medical condition of the patient and treat the complications resulting from excessive ingestion of food and abuse of diuretics and laxatives, as well as by induced vomiting. It’s very useful prescribing a proper diet and a psycho-educational intervention to restore healthy eating habits. Especially in the case of very young patients should involve the family and obtain their cooperation in the therapeutic process. It’s also indicating a path of psychotherapy (individual, group or family) to intervene on the psychological aspects of the disorder and any concomitant psychological disorders (personality disorders, depression or anxiety).
Although psychiatric drugs have proven very effective in treating the symptoms of bulimia, in particular antidepressants such as fluoxetine. It has become evident that their intake leads to a drastic reduction in the number of bulimic crisis even if the disorder is not accompanied by depressive symptoms.
In Italy there are several public health facilities that deal with eating disorders and there are active groups for mutual self-help Over eaters anonymous
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