Dangerous hereditary diseases

Dangerous hereditary diseases

Chorea Huntington. Usually this disease begins to manifest itself between the ages of 20 and 50 and progresses slowly. The disease is characterized by mental disorders and the development of dementia. With the progression of the disease, the patient appears hallucinations, unreasonable attacks of aggression, hysteria, and the complete disintegration of the personality.

Batten’s disease. Batten’s disease (NCL) occurs in childhood or adolescence. With this disease, fatty substances accumulate in the cells of the nervous system. The main symptoms of the disease are blurred vision, headaches, epileptic seizures, mental retardation and fits of rabies. The time of manifestation of certain symptoms, the speed and severity of the progression of the disease depends on what type of disease Batten is. In any case, this disease leads to death.

Epilepsy. This is one of the most common to date, neurological diseases. One person in a hundred on the Earth regularly has epileptic seizures. The first epileptic seizures, which are congenital, appear at the age of 5-18 years. In most cases, patients with epilepsy do not have mental and intellectual disorders, but regularly suffer from seizures that occur with complete loss of consciousness and control over their actions. The danger of the disease is that the attacks can occur anywhere and at any time, which can cause death.

Becker muscular dystrophy. This disease manifests itself at the age of 10-15 years and is characterized by the disruption of work of arbitrary muscles. At first, the patient quickly gets tired only with intense physical exertion, then weakness in the muscles of the legs increases, there are cramps and muscle spasms. The ability to move independently lasts up to 30-40 years, in the last stages of the disease, respiratory and swallowing functions are damaged, leading to death.

Schizophrenia. Schizophrenia usually begins in men at the age of 20-28 years, in women the peak of the incidence is at the age of 26-32 years. This disease is quite common today and is known as a severe mental disorder. The symptoms of schizophrenia are paranoid and fantastic nonsense, auditory hallucinations, impaired speech and thinking, inappropriate behavior. Schizophrenic patients have a high risk of developing depression and suicidal tendencies.

Unfortunately, these statistics are such that today every 100th inhabitant of our planet suffers from dangerous mental disorders and it is far from always that genes are to blame. Often the reasons for the development of mental illness are prolonged stress, chronic fatigue, alcohol abuse, use of narcotic substances and the inability to calmly perceive reality.

What mental diseases are inherited

What mental diseases are inherited

So it is laid by nature – we all during the life of something sick and not once. ARI, chickenpox, flu, sore throat – this is a small part of what each of us had been ill. But in the world there are diseases that are inherited, like a terrible curse. Their occurrence is difficult to predict. A child whose parents suffered from a hereditary disease does not necessarily have to be born sick, but he will always have a high risk of developing this disease.

To date, there are 3,000 genetic diseases that are inherited. Fortunately, among them the main part consists of diseases, the risk of which in a child is only 3-5%. Genetic diseases that occur in virtually every generation always have a suppressive gene. In this case, the carrier of the sick gene can be one of the parents, or both. Just in the first case, the risk of developing a genetic disease in a child will be 2 times less.

The most common inherited diseases are diabetes, hypertension, psoriasis, color blindness, congenital deafness, epilepsy, and schizophrenia. Among them, the most dangerous are mental illnesses that negatively affect the person’s adequate behavior. The mentally ill loses the ability to think reasonably and communicate normally with people.

Neurological hereditary diseases can occur in people of all ages, but some of them do not appear immediately after birth, but 20-40 years later. Such dangerous disorders of the nervous system include:

1. Parkinson’s Disease. Most often, this disease affects people after 50-60 years, then progresses steadily. Its main features include poor coordination of movements, trembling hands, chin and legs, slow walking. In addition, with this disease, there is a lack of emotion, a slowdown in thinking and attention, a deterioration of speech and the development of depression. As the disease progresses, memory and intellect deteriorate, complete immobility occurs when the patient is confined to a wheelchair or bed.

2. Alzheimer’s disease. This disease begins to manifest itself before the age of 65, but it is difficult to diagnose in the early stages of development due to the non-specific clinical picture. The first signs of Alzheimer’s disease are forgetfulness, confusion and inability to do things that were previously easy. Later, dementia, unreasonable irritability and aggression develop, with time speech and loss of all vital functions of the body are disturbed.

3. Amyotrophic lateral sclerosis. The first manifestations of this disease, which is usually called ALS, can be felt by patients after 40 years. ALS is an incurable progressive disease of the central nervous system, in which paralysis and muscle atrophy occur due to degenerative lesions of the upper and lower motor neurons of the brain. As a result of all these processes, a fatal outcome occurs within a few years, due to severe pneumonia or failure of the respiratory muscles.

Mental diseases are progressing.

Mental diseases are progressing.

Over time, mental illness progresses and may combine delusional, hallucinatory, and emotional disorders. Manifestations of visual, auditory and delusional hallucinations appear as follows:

– the person talks to himself, laughs for no apparent reason. – can not focus on the topic of conversation, always has a worried and anxious look.
– hears other voices and sees someone that you can not perceive.
– is hostile to family members, especially those who serve it. In the later stages of the development of mental illness, the patient becomes aggressive, attacks others, deliberately smashes dishes, furniture and other objects.
– tells the stories of implausible or doubtful content about themselves and loved ones.
– fears for his life, refuses to eat, accusing loved ones of trying to poison him.
– writes statements to the police and letters to various organizations with complaints to relatives, neighbors and just acquaintances.
– hides money and things, quickly forgets where he put them and accuses others of theft. – long does not wash and does not shave, in the behavior and appearance there is inaccuracy and uncleanliness.

Knowing the general signs of mental disorders it is very important to understand that mental illness brings suffering, first of all, to the patient himself, and only then to his relatives and society. Therefore, it is absolutely wrong to prove to the patient that he is behaving immorally, to accuse or reproach him that he does not love you and worsens your life. Of course, a mentally ill person is a disaster in the family. However, he should be treated as a sick person and responded to their inappropriate behavior with understanding.

You can not argue with the patient, trying to prove to him that his accusations against you are wrong. Listen carefully, calm and offer help. Do not try to clarify the details of his delusional accusations and statements, do not ask him questions that may aggravate those with mental disorders. Any mental illness requires attention from loved ones, and treatment by specialists. It should not cause complaints and accusations of selfishness in the direction of a sick person.

Alas, no one is immune from the development of mental disorders. This is especially true of those who have a hereditary predisposition to the disease or care for elderly parents with dementia. Show an example of good attitude towards them to your children, so that they do not repeat the mistakes of their parents.

How to understand that a person is mentally ill? Signs of mental disorders

How to understand that a person is mentally ill? Signs of mental disorders

We live in a time when tantrums and protracted depressions have become commonplace for many. Each of us is familiar with a state when close people behave inadequately or suffer from insomnia themselves, twisting the same obsessive thought in my head all night. But these are signs of a prepsychotic state: anxiety, insomnia, unwillingness to live, hysterics, an attack on others, an attempt at suicide, and abrupt mood changes. In order to identify abnormalities in the psyche, it is necessary to observe a person in a hospital for 30 days, and in some cases, to diagnose schizophrenia, it is necessary to examine the patient for 6 months.

Mental illness is not only schizophrenia, it also includes neurosis, psychosis, mania, panic attacks, paranoia, dementia and bipolar disorder. In turn, each mental disorder is divided into several types. It is believed that if situations that cause acute stress reactions in people: hysterics, crying, assault, nervous tremors and other aggressive actions directed at others or towards themselves are episodic and disappear after a while, then they do not interfere with life and are not abnormality.

However, it often happens that after the examination the doctor doesn’t reveal any mental disorders in the patient, and after a while he makes a hard planned murder or harms his health or others. This is a clear deviation in the psyche and in order not to become a victim of such a patient, it is very important to have some ideas about the signs of mental disorders and how to behave when communicating or even living with them.

Nowadays, many people are forced to live together or in the neighborhood with alcoholics, drug addicts, neurasthenics and elderly parents with dementia. If you delve into the subtleties of their daily life, you can easily come to the conclusion that absolutely mentally healthy people simply do not exist, but there are only under-examined people.

scandals, accusations, threats, assault, unwillingness to live, and even suicide attempts are the first signs that the psyche of the participants in such conflicts is not in order. If such human behavior repeats itself from time to time and begins to influence the privacy of other people, then it is a question of mental illness and requires examination by a specialist.

Deviations in the psyche are primarily manifested in the fact that a person’s perception of the world changes and their attitude to the people around him changes. Unlike healthy people, people with deviations in the psyche, seek to satisfy only their physical and physiological needs, they do not care how their inappropriate behavior will affect the health and mood of others.

They are cunning and attentive, egoistic and hypocritical, unemotional and resourceful. It is very difficult to understand when a person close to you shows excessive anger, aggression and unfounded accusations against you. Few are able to keep calm and accept inappropriate behavior of a loved one associated with mental disorders. In most cases, people think that a person is mocking him, and they are trying to use “educational measures” in the form of morals, demands and evidence of innocence.

Diagnostics of new medical technologies

The use of new diagnostic and therapeutic technologies has significantly reduced the number of severe forms of the GDT and mortality from them. However, with the development of medicine, new issues of diagnosis and treatment of infectious diseases in obstetrics arise, which need further study. The features of modern obstetrics and gynecology are changes in the number of pregnant women and puerperas (an increase in the number of women with severe extragenital pathology, induced pregnancy, hormonal and surgical correction of miscarriage, etc.), a high frequency of abdominal delivery, and the widespread use of advanced antimicrobial drugs for preventive and therapeutic purposes. spectrum of action, leading to the accumulation of antibiotic-resistant strains of microorganisms in institutions, and Use of invasive examination and treatment methods. It should also take into account the increasing use during pregnancy of various drugs, including corticosteroids and cytotoxic drugs with immunosuppressive effects.
In the complex therapy of the GD, the leading role belongs to antibacterial drugs. Over the past decade, there has been an increase in the use of antibiotics throughout the world, but this trend varies significantly between countries.

The variability of the etiological structure of the GDH, the growth of microbial resistance to antibiotics leads to the need to constantly update and expand the range of these drugs. In this regard, there is a need for periodic review of their use in the treatment of inflammatory diseases in all areas of medicine, including in obstetrics and gynecology.
Antibiotics are the most numerous group of drugs. Thus, in Russia at present, 30 different groups of antibiotics are used, and the number of drugs (excluding non-original) is approaching 200. In the US, antibiotics have been shown to be one of the most frequently prescribed drugs for pregnant women: 3 out of 5 drugs used during pregnancy are antibacterial agents [9]. Despite the fact that a small number of studies have revealed the possible negative effects of antibiotic therapy during pregnancy, the frequency of use of antimicrobial agents during gestation remains largely unknown. A population cohort study, conducted in Denmark from 2000 to 2010, revealed that antibiotics were prescribed in 33.4% of cases among all deliveries and in 12.6% among all artificial interruptions of pregnancy, while from 2000 to 2010 Antimicrobial prescription increased from 28.4% to 37.0%. In a study by L. de Jonge et al., It was shown that at least one antibacterial drug was prescribed in 20.8% of patients during pregnancy, while β-lactam antibiotics were used most often. It is worth noting that similar trends are observed in many countries around the world.

Microbiological feature

It must be said that the microbiological feature of the GDH in obstetrics, gynecology and neonatology is the polymicrobial etiology of these diseases. Conditionally pathogenic enterobacteria (E.coli, Klebsiella spp., Proteus spp.) Dominate among the pathogens of the uvogenital tract in pregnant women and puerperas, often in association with obligate anaerobes of the bacteroid family – Prevotella spp. and anaerobic cocci. In recent years, the role of enterococci in the aetiology of the GDV in obstetrics and neonatology has increased, which is apparently due to the resistance of these bacteria to cephalosporins, widely used in obstetric practice.
In inflammatory diseases of the female genital organs, the ascending pathway of infection prevails. Invasion of the microbes that inhabit the vagina into the internal genital organs can occur during various surgical interventions, the introduction of intrauterine contraceptives, the implementation of invasive diagnostic methods. With the development of the GDH after childbirth, in most cases the vaginal microflora penetrates into the internal genital organs. An important role is played by the degree of colonization by the microorganisms of the vagina and the cervical canal: massive contamination contributes to the development of the infection process. Thus, a high degree of colonization of the vagina with aerobic and anaerobic bacteria before abdominal delivery increases the risk of postoperative purulent-inflammatory complications, in particular, endometritis, peritonitis after cesarean section. The factors contributing to the activation of the microflora of the vagina and the subsequent development of the infectious process include reduction of systemic and local immunity, changes in hormonal status, and irrational administration of antimicrobial drugs that disrupt the natural relationship of microorganisms in the vaginal microcenosis.
The general patterns of the dynamics of the etiological structure of the GDH allow us to say that in each hospital there is a certain epidemiological situation, biological features of pathogens and their sensitivity to antibiotics, and therefore local monitoring of the species composition and antibiotic resistance of the secreted microorganisms is necessary, determining the choice of drugs for the prevention and treatment of the disease .
The use of antibacterial drugs in obstetric practice has a number of features that should be considered for the effective treatment of infectious and inflammatory diseases in pregnant women and puerperas. Antibacterial therapy of the GDH in obstetrics and gynecology can be effective only taking into account their clinic, etiology, pathogenesis and a number of features that occur in the body of pregnant women and determine the correct choice and adequate use of antibacterial drugs.

First of all, you should know whether the drug has embryotoxic and teratogenic effects. The presence of such properties is a contraindication for the use of medicinal substances in obstetrics. Of great importance is the transplacental transition of antibiotics. The level of the drug, which is created in the tissues of the fetus and in the amniotic fluid when it is introduced into the maternal organism, determines the possibility for its therapeutic use during intrauterine infection and chorioamnionitis.

Directional therapy

During pregnancy, antibiotic therapy should be aimed at eliminating infection, preventing infection of the fetus and newborn, as well as the development of postpartum HDS. The rational and effective use of antibiotics during pregnancy involves the following conditions:
• it is necessary to use drugs only with established safety of use in pregnancy, with known metabolic pathways (FDA criteria);
• when prescribing drugs should take into account the period of pregnancy, you must be especially careful in the appointment of antimicrobial drugs in the first trimester of gestation
• in the course of treatment, careful monitoring of the state of the mother and fetus is necessary.
The FDA divides all drugs into the following risk categories:
• category A – as a result of adequate strictly controlled studies there was no risk of adverse effects on the fetus in the first trimester of pregnancy (and there is no evidence of such a risk in subsequent trimesters);
• category B – the study of reproduction in animals did not reveal the risk of adverse effects on the fetus, and adequate and strictly controlled studies in pregnant women have not been conducted;
• category C – the study of reproduction in animals revealed an adverse effect on the fetus, and adequate and strictly controlled studies in pregnant women have not been carried out, but the potential benefits associated with the use of drugs in pregnant women may justify its use, despite the possible risk;
• category D – there is evidence of the risk of adverse effects of drugs on the human fetus, obtained during research or in practice, but the potential benefits associated with the use of such drugs in pregnant women may justify use, despite the possible risk;
• category X – animal tests or clinical trials have revealed abnormal development of the fetus and / or there is evidence of the risk of adverse effects of the drug on the human fetus, obtained during research or in practice, this category includes drugs that cause irreversible and severe fetal abnormalities, these drugs are contraindicated in pregnant women or women who may become pregnant.
According to this classification, all the antibiotics penicillin group, cephalosporins, erythromycin, azithromycin, metronidazole, meropenem, nitrofurans and antifungal drugs (nystatin, amphotericin B) included in Category B, tobramycin, amikacin, kanamycin, streptomycin, and tetracycline – known to the category D. that aminoglycosides can have an oto- and nephrotoxic effect on the fetus. Chloramphenicol is classified as C, as well as trimethoprim, vancomycin and fluoroquinolones.
Given the side effects of antimicrobial drugs on the mother, fetus and newborn, these drugs are divided into 3 groups.
Group I includes antibiotics, which are contraindicated during pregnancy. It includes chloramphenicol, tetracycline, trimethoprim, i.e. substances having an embryotoxic effect. This group includes fluoroquinolones, in which the effect on the cartilage tissue of the joints was found experimentally. However, their effect on the human fetus has been little studied.
Group II includes antibiotics, which during pregnancy should be used with caution: aminoglycosides, sulfonamides, nitrofurans, as well as a number of antibacterial drugs whose effects on the fetus have not been studied enough. Preparations of this group are prescribed for pregnant women only according to strict indications in case of serious diseases, the pathogens of which are resistant to other antibiotics, or in cases when the treatment is ineffective.

Non-embryotoxic drugs

Group III includes drugs that do not have an embryotoxic effect – penicillins, cephalosporins, macrolides. These antibiotics can be considered the drugs of choice in the treatment of infectious diseases in pregnant women.
Physiological changes occurring in the body of women during pregnancy have a significant impact on the pharmacokinetics of drugs, including antibiotics. A decrease in the amount of albumin in the blood, an increase in renal clearance, a decrease in absorption from the gastrointestinal tract, and a number of other factors that appear during pregnancy, lead to a decrease in the period of excretion of drugs. The above helps to reduce the concentration of antibacterial substances in the blood and organs compared to non-pregnant ones, this is most pronounced in the third trimester of pregnancy. The individual characteristics of the body, as well as the properties of the drug, have a significant impact on the pharmacokinetics of antibiotics during pregnancy. This is of great diagnostic importance and determines the need for dose adjustment and the mode of administration of the antibiotic.

Often, the content of antibacterial drugs in the blood during gestation exceeds their minimum bacteriostatic concentration for pathogens. However, in some cases, the average therapeutic concentrations of antibiotics in the treatment of infections in pregnant women may be ineffective, and therefore there is a need to increase the dose. Without the risk of pronounced adverse reactions, large doses of antibiotics can be used, having a wide range between therapeutic and toxic effects, such as penicillins, cephalosporins. If the specified range is small, then drugs are prescribed only in the average therapeutic dose. In case of a severe disease, ineffectiveness of the treatment, when there is a need to increase the dose of antibiotics, in order to avoid their embryotoxic action, it is advisable to determine the content of drugs in the blood of pregnant women.

Postpartum Pharmacokinetics of Antibiotics

In the postpartum period, the pharmacokinetics of antibiotics do not significantly change. In the early postpartum period there is an increase in the half-life of some antibacterial drugs, the volume of distribution and the renal clearance of these antibiotics are increased. In puerperas, antibiotics are found in uterine lochia and milk.

Antibacterial drugs for use in obstetric practice, as indicated above, should not have any teratogenic or embryotoxic properties; as far as possible, with maximum efficacy, be of low toxicity, with a minimum incidence of side effects. A number of modern antibiotics fully meet these requirements, in particular, inhibitor-protected penicillins, cephalosporins and macrolides. As you know, penicillins penetrate the placenta, but they are quite safe. There is a fairly large amount of observation in pregnant women who received them in the first trimester, but even in this case there were no serious anomalies, this group of drugs can be used in the postpartum period without stopping breastfeeding. Cephalosporins easily cross the placenta, so their use in the first trimester is still not recommended. The conducted preclinical studies did not reveal any mutagenic or teratogenic effect in the preparations of these groups.
Due to the wide range of pathogens that cause inflammation in the female genital organs, the choice of an effective antibiotic is crucial. Treatment in many cases is carried out with a combination of broad-spectrum drugs, preferably intracellularly penetrating, and anti-anaerobic drugs.
Dosage forms and pharmacokinetic properties of antimicrobial drugs allow you to use the principle of “step therapy”, that is, to begin the course with parenteral administration of drugs, and finish taking the tablets of the antibiotic.

Modern antibiotic therapy

Modern antibiotic therapy of individual nosological forms begins with empirical treatment, when antibiotics are administered immediately after the diagnosis of the disease, taking into account possible pathogens and their sensitivity to drugs. When choosing a drug for initial therapy, data from the literature on its spectrum of action on microorganisms, pharmacokinetic features, etiological structure of this inflammatory process, and structure of antibiotic resistance are taken into account. Before starting therapy, one should receive material from the patient for microbiological examination.
From the first days of the disease, it is advisable to prescribe an antibiotic or a combination of antibiotics that best cover the spectrum of possible pathogens. To do this, it is necessary to use combinations of synergistically acting antibiotics with an action spectrum that complements each other, or one drug with a broad spectrum of action. In case of positive dynamics of the disease, based on the results of microbiological research, it is possible to switch to drugs of a narrower spectrum of action. After isolating the pathogen and determining its sensitivity to antimicrobial drugs in the absence of clinical effect from the initiated empirical therapy, it is advisable to continue the treatment with the drug to which, according to the analysis, the causative agent of the disease is sensitive. Purposeful monotherapy is often more effective, it is more profitable and economically. Such tactics of antibiotic therapy is used in the treatment of the GDH in obstetrics and gynecology.

The combination of antibacterial drugs is indicated in the treatment of diseases of polymicrobial etiology in order to reduce the possibility of the development of antibiotic resistance of certain types of bacteria, to take advantage of the combined effect of antibiotics, including reducing the dose of drugs used and their side effects. However, it should be borne in mind that combination therapy is usually less economically advantageous than monotherapy.

Antibacterial therapy of the GDH in obstetrics and gynecology should be systemic, and not local. With systemic treatment, it is possible to create the necessary concentration of antibiotics in the blood and the lesion focus, maintaining its required time. Local use of antibacterial drugs does not allow to achieve this effect, which in turn can lead to the selection of resistant strains of bacteria and the lack of effectiveness of local antibiotic therapy.