Archive for category Syndrome
Syndrome Turner factsheet
Turner syndrome, also known as gonadal dysgenesis, is a disease that affects only female subjects due to an abnormal chromosome X. The incidence is 1 female born in 2500. In most cases it is caused by the absence of an entire X chromosome in each cell in the body that normally, in female subjects, it has two more rarely are found in mosaic forms (the chromosome is absent only in some cells in others is present in two copies) and forms caused by chromosomal abnormalities such as structural members in one of the two X chromosomes is somehow damaged.
The syndrome occurs in more nuanced forms in those individuals with mosaic or those caused by structural alterations, and is most evident in the forms due to complete monosomy of chromosome X. The clinical manifestations typically include short stature, 1.45 m on average, a shield chest (rib cage wide and flat), short neck, swelling of feet and hands (peripheral lymphedema), poorly developed secondary sexual characteristics due to abnormal ovarian involving a lack of estrogen production. Women with Turner syndrome also have amenorrhea primary (absence of menstruation) or menopause early. Less than 1% is able to procreate. Can be added cardiac complications, renal anomalies, hypertension, increased susceptibility to autoimmune diseases and development of osteoporosis. In some cases there are myopia or strabismus. The syndrome does not involve mental retardation, although deficits were detected visual-motor and visuo-spatial that can cause problems at school, in this sense is of paramount importance that the quality of family and school that the child must be sufficiently supportive and encouraging attitude iperportettivo differently by family, friends and teachers could have uninflluenza negative effect on mental development of the person.
The life expectancy of women with Turner syndrome is not different from the rest of the population. Much can be done to improve quality by working on clinical manifestations of disease. It ‘may be administered somatotropin (growth hormone) to stimulate the development of the height and using a hormone to the 12 years to foster the development of secondary sexual characteristics of women. Through the administration of somatotropin was reached to obtain an increase in the height of 7 / 8 cm. Currently, the problem of infertility can be overcome thanks to the techniques of assisted fertilization. Any complications from heart or kidney should be kept under medical supervision.
Prenatal diagnosis is possible through karyotype analysis by amniocentesis (taking a small amount of amniotic fluid) or CVS (taking of villous chorion, the cells that form the placenta). The newborn with Turner syndrome presents at birth weight and length below average, swelling of hands and feet, skin folds of the neck.
Sometimes, when the manifestations are mild, the diagnosis is reached only once reached puberty when there is primary amenorrhea and short stature. More accurate post-natal diagnosis is possible through the removal of skin cells obtained from skin biopsy.
Down Syndrome Information
In the past, mainly because of cardiac complications, the life expectancy of individuals with Down syndrome was not very high. Currently, thanks to advances in cardiac surgery and medicine in general, it has risen significantly with an increasing number of individuals who come up seniority. The quality of life has improved significantly, the problematic aspects of the syndrome may in fact be effectively addressed through appropriate educational and early intervention and rehabilitation implemented since early childhood. A child followed properly by skilled operators (speech therapist, locomotion, child psychiatrist) since the first months of life and raised in a stimulating and welcoming family environment has a good chance of becoming an adult is sufficiently autonomous and social integration. Are many people with Down Syndrome who attend school, play sports and do a job in addition to having a good life report.
It is estimated that in Italy there are 40000 people living with jack trisomy 21 with 800 newborns each year. The incidence of the syndrome and constant time and in all populations.
Prenatal diagnosis is possible through the ‘amniocentesis around the sixteenth week of gestation, or through CVS around the twelfth week. There are many additional screening tests such as the Tri-testing, and so-called nuchal translucency combined tests that allow to identify mothers at risk for which it is recommended to undergo amniocentesis or CVS. These are invasive investigations which present a risk of miscarriage of 0.8% for amniocentesis and 1, 5% for CVS. Currently, the most important risk factor identified for the onset of the syndrome and maternal age accounted for. Fewer younger the mother the greater the risk that a child is born with Down syndrome.
In Italy there are different groups of people with Down Syndrome and their families, providing, inter alia, information support services and are active in projects of social promotion.
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.
Anxiety disorders.How to deal
Anxiety disorders are: panic disorder, generalized anxiety disorder, phobias, the obsessive-compulsive disorder, stress disorder and post-traumatic stress disorder acute. Panic Disorder is characterized by very strong panic attack lasting a few minutes but induce in the patient with a very strong feeling of anxiety, in addition to physical symptoms such as choking, dizziness, sweating, tremor and tachycardia is the feeling of being on the verge die. Phobias are the most common anxiety disorders, they consist of an uncontrollable and irrational fear, and avoidance of a given “object” (often an animal) or a given situation, and the Obsessive - Compulsive leads the person to suffer a series of obsessions (distressing thoughts or mental images that you require the person against his will) and compulsions (repetitive behaviors that the person feels forced to take to relieve anxiety). Unlike phobias and obsessive-compulsive disorder, generalized anxiety disorder is represented by a state of constant anxiety and persistent without reference to particular situations (floating anxiety). Finally, post-traumatic stress disorder and acute stress disorder resulting from having suffered a severe injury in which the person has experienced a feeling of horror and helplessness.
In most cases, anxiety disorders can be successfully resolved through an appropriate and timely intervention. Should always consult a professional (psychiatrist or psychotherapist) that would put an accurate diagnosis and indicate the most appropriate treatment to the case (psychotherapy and / or pharmacotherapy). The Autogenic Training can be a valuable aid in the treatment of somatic manifestations of anxiety such as tachycardia, abdominal pain, hot flushes, and its associated disorders such muscolotensive headaches and insomnia psychogenic.
I can not go to work! The burnout syndrome in the helping professions
The burnout syndrome is a state of psychic pain that affects almost exclusively the social service sector operators, i.e. all those professions in which the operator-user relationship is central to the conduct of work. To be affected by this phenomenon are therefore areas of work in which the operators are in constant contact with the users and should cater for the needs of each individual. And ‘the case of doctors, nurses, psychologists, social workers, but also teachers, to mention only some of the professions involved.
The person suffering from burnout experienced a state of unease linked to the performance of his professional activity that begins to be experienced only as a source of stress. This leads to a progressive loss of interest and concentration and a cold and detached attitude in addition to the unpleasant feeling of not doing their job properly.
Early studies on burnout, although the phenomenon was known for some time, began in the seventies, before that in fact the phenomenon was considered a problem limited to a small number of players, mostly because of their personal temperament. With the further development of studies and research in academia, it was discovered that was not the case and that the burnout phenomenon closely tied to professional contexts consuming from the standpoint of emotional well-equipped with precise characteristics identified through appropriate assessment tools. Christina Maslach and Susan Jackson were to identify, in the eighties, the three main components of burnout syndrome: the ‘emotional exhaustion, which leads the operator to feel tired of his job, as empty, depersonalization, which is an attitude of coldness, detachment, often cynical and, ultimately, reduced personal achievement which induces a feeling of inadequacy that leads the employee to negatively judge themselves and their actions against you.
Studies conducted by the same Maslach showed that the three dimensions of the syndrome are a sort of chain reaction triggered by emotional overload which these workers are daily subjected. Places before a quantity of labor relations professionals perceived as emotionally overwhelming experience a feeling of mental exhaustion that is configured as emotional exhaustion, in response to this situation by implementing a defensive attitude by which they try to limit its emotional until put between himself and users a real wall that makes them look cool, detached and sometimes even cynical. From all this could bring about a feeling of not doing their job properly and, consequently, a feeling of failure to complete training. Even the personality characteristics of the operator appear to still have a role in the onset of the syndrome, however, according to Maslach to have the greatest impact on it are the characteristics of the worker maintains relationships with clients such as with colleagues and superiors.
Have studied the role of intrapsychic components of the individual in burnout syndrome was instead Ayala M. Pines. According to the author’s syndrome occurs mainly in those workers who, motivated in ‘pursue a particular profession, invest all their energies on raising it to its primary means of personal fulfillment. The syndrome is therefore concerned with those workers who live in the occupation as the primary mission of their life, which, before a working environment that does not respond to them, high initial expectations will experience a progressive loss of motivation and then to burnout.
Anxiety disorders. How to recognize
Anxiety is a state of mind characterized by unpleasant sensations in the individual’s physical and mental that inspire a feeling akin to fear, from which the Anxiety is distinguished by the fact of not necessarily occur in response to a specific stimulus. The emergence of a state of anxiety accompanied by physical symptoms such as specific tachycardia, difficulty breathing, chest pain, tremors, dry mouth, abdominal pain, pallor or redness. That set the ‘Anxiety of itself is a physiological phenomenon, closely ingrained in human nature which plays important functions related to survival and adaptation, a moderate degree of anxiety in fact, by increasing the concentration, muscle tension, attention helps us to adapt to all life situations that require an effective response.
Anxiety begins to pose a problem when the state of activation it induces prolonged too much time or is manifested in a non-specific. In this case physiological anxiety becomes pathological and can cause discomfort to the person or be the basis for a real mental disorder. Possible to distinguish mild anxiety disorders Anxiety disorders easily solvable by proper where the anxiety rise to a series of behaviors, seemingly inexplicable and irrational, which sought to restrict it. In both cases it is appropriate to use a mental health professional (psychologist or psychiatrist).
Phobias Listing
Specific phobias are perhaps the best known among the anxiety disorders, it is because of irrational fear of avoidance of objects, animals, or situations defined. We distinguish four groups of specific phobias: the first group are phobias that have as their subject animals, such as Arachnophobia (phobia of spiders), the cinofobia (fear of dogs)’ s ornitofobia (fear of pigeons or birds in general), ailurofobia (fear of cats), the second group belong instead phobias regarding environmental situations: such as’ acrophobia (fear of heights), the brontofobia (fear of thunderstorms), agyrofobia (fear of crossing the street) , rupofobia (fear of dirt) in the third group are phobias of blood, injections or injury, and finally the fourth group, phobias directed to specific situations such as claustrophobia (fear of closed places), or the fear of driving or air travel (aviofobia), train, bus and so on. Generally the person with a specific phobia can handle the situation carefully avoiding the dreaded bump in the circumstances. In this case, however, is more appropriate to consult a specialist who put a proper diagnosis and indicate the most appropriate care.
We conclude this brief overview of phobias by listing a series of specific phobias that might be called “unusual” alliumfobia (fear of garlic), basifobia (fear of falling while standing or walking), calliginefobia (fear of having relations with women good), eritrofobia (fear of the color red), iatrofobia (fear of doctors), logofobia (afraid to say or hear certain words), pendofobia (fear of clocks), pogonofobia (fear of beards), xylofobia (fear of wooden objects or forests), automatonofobia (fear of objects that have human form), clinofobia (fear of beds), eisoptrofobia (fear of mirrors), falacrofobia (fear of baldness), leucofobia (fear of the color white), xantofobia ( fear of the color yellow), melofobia (fear of music), tafofobie (fear of being buried alive).
Phobias. The chameleon-like forms of anxiety
Phobia is an anxiety disorder characterized by an uncontrollable and irrational fear of an object or situation that leads a person to his avoidance. People with this type of noise are well aware that their fear is excessive and often unwarranted but nevertheless fail to change things. The anxiety is distinguished from phobic fear simply because of the presence of the pipeline to prevent the individual will not only lead to fear a particular situation or object, but also to “avoid” being implemented to this end, a whole set of behaviors and strategies that are likely to cause them a high degree of personal distress and relational.
Literature we find three distinct types of phobias: Agoraphobia, which may be more or less associated with panic disorder, specific phobia and social phobia. Agoraphobia is the fear of being left alone in public spaces from which escape is perceived impossible. When the ‘Agoraphobia is associated with panic attacks, a major factor for its occurrence is the fear of social consequences of having a panic attack in public. Typically the person agoraphobic fears the public places such as shops, trains, buses. Social phobia refers to a fear of speaking or performing in public for fear, irrational; to commit impulsive acts contrary to the common sense of decency and / or shame that may expose the person to negative judgments. Physiological anxiety commonly experienced by everyone before you speak or show themselves in a situation of “public” in these individuals becomes pathological to the point of preventing them from these types of performances.
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