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Author: Sylvia Marinova, PhD student in the Genomic Stability Laboratory at BAS

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Whether our baby will have green or brown eyes depends on what is written in its genetic code. But in addition to such characteristics, genetics also determines the development of diseases and defects that can be very severe and even fatal. On average, between 3% and 5% of all pregnancies [<a href="https://pubmed.ncbi.nlm.nih.gov/27235906/" target="_blank" rel="noopener">ref.1</a>] are known to be complicated by a genetic or birth defect.

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In order to prevent them, there are a number of genetic tests both before and during pregnancy and it is important that all expectant parents are aware of them and discuss them with the advising obstetrician-gynecologist when planning a pregnancy. In this article we will introduce you to the 3 main groups of genetic tests that are applied.

What-are-genetic-diseases

What are genetic diseases

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Genetic diseases <a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer"></a>are due to anomalies in a person's genome. They may be different species and may be the result of a change called a mutationin a particular gene.

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Anomalies can also be in larger structures called chromosomes . They carry the genes. Each person normally has 23 pairs of chromosomes insomatic cells, a total of 46 pieces (more <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer"></a> detailed about genes and chromosomes can be read here [ref.2]). Sometimes it is possibleto get this way, for example, with Down syndrome, we know that there is a trisomy of the 21th chromosome.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy

Find out if you are a carrier of genetic diseases before pregnancy

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As a first step towards creating a new life, we could do a study to see if we or our partner are carriers of a genetic defect that may be risky for our future baby.

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The choice of whether to take such a test is entirely free. Often our obstetrician-gynecologist can recommend such studies or refer us to a specialist in medical genetics if he <a href="https://www.puls.bg/bremennost-i-razhdane-c-36/prof-liudmila-angelova-skriningova-programa-za-otsenka-na-risk-se-predlaga-na-vsichki-bremenni-v-stranite-s-naprednalo-zdraveopazvane-n-35599" target="_blank" rel="noopener">deems</a> itnecessary.

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The study in itself is taking material from the oral cavity .

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<ul>
<li>Cystic fibrosis - with a defect in the CFTR gene. The disease affects the respiratory and digestive systems most seriously</li>
<li>Spinal muscular atrophy - with a defect in the SMN gene. More about the disease can be read <a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">here</a> [ref.4]</li>
<li>Thalassaemia - Defect <a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer"> in HBA or HBB </a> [ref.5] genes.</li>
<li>Brittle X chromosome syndrome - a defect in the FMR1 gene. The disease leads to increased mental retardation and specific facial deformities and much more.</li>
</ul>

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As these are hereditary diseases, there is a high incidence of disease in the family history. In the presence of any of the following factors, it is good to do a genetic screening for carrier. Here is the time to mention that this test can also be done during pregnancy, along with other studies.

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In addition to genetic testing, there are other ones that assess the mother's health, but they are not subject to this article.

Screening-tests-during-pregnancy

Screening tests during pregnancy

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Most prenatal tests belong to the screening test group. They aim to identify women with pregnancies at risk of chromosomal aberrations or birth defects. These studies do not diagnose, but only identify the higher risk of a genetic defect for our baby.

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<ul>
<li style="font-weight: 400;">Screening in the first trimester - it consists of a combination of a study of serum indicators of the mother and an echographic examination. The two studies complement each other and are not interchangeable. In ultrasound, for example, the amount of fluidthat accumulates in the occipital region of the foetus is observed. If foetal abnormalities are present, it will be increased and this is an early sign by which aneuploydia can be assumed, especially Down syndrome.</li>
<li style="font-weight: 400;">Late screening - we are talking about classic biochemical screening in the second trimester, but it has a reduced sensitivity to that in the first trimester.</li>
<li style="font-weight: 400;">Non-invasive prenatal test - has been studied since <a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener"></a> 2011. </li>
</ul>

Diagnostic-tests-during-pregnancy

Diagnostic tests during pregnancy

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These are procedures that determine with high accuracy whether the fetus has chromosomal malformation. If our screening test is positive, then a diagnostic examination is required. They are two main types:

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<ul>
<li style="font-weight: 400;">Chorionobiopsia - is performed between the 10th and 13th weeks of gestation, <a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener"></a> and this is the main advantage of the method. It is invasive and involves sampling from the placenta, which is subjected to examination.</li>
<li style="font-weight: 400;">Amnioccentesis - the study is carried out between the 16th and 18th weeks of gestation.</li>
</ul>

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Having a child is the greatest happiness that can happen to us. But it is accompanied by many difficulties and requires us to be responsible and plan our actions well. In this sense, it is good to think about the possibility of genetic testing, especially if we have reason to assume that we are carriers of a genetic disease. Prenatal diagnosis is also an important part of pregnancy. The main advantage of taking advantage of it is that it gives us preliminary information about the health of our baby and in case it needs special care it gives us time to prepare well.

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Diagnostic-tests-during-pregnancy_3_5

<a href="/p/ima_li_smisl_da_si_napravish_ghienietichien_tiest_0a6b928b_e726_4246_be6a_2ef32f93ccf0" target="_blank" rel="noreferrer">Does it make sense to take a genetic test?</a>

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<a href="/p/iepighienietikata_ili_kak_nachint_na_zhivot_upravliava_ghienitie_ni_8ec805d0_069f_4823_89cd_c55d051a9610" target="_blank" rel="noreferrer">Epigenetics or how lifestyle governs our genes</a>

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<a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer">Mutations vs. Natural Selection</a>

Diagnostic-tests-during-pregnancy_3_8

<a href="/p/kak_nuklieinovitie_kisielini_dnk_i_rnk_dirizhirat_zhivota_7b8f007a_0254_40cb_8d72_36410852722e" target="_blank" rel="noreferrer">How nucleic acids DNA and RNA orchestrate life</a>

Diagnostic-tests-during-pregnancy_3_9

<a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine resemblance to our parents</a>

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<ol>
<li style="font-weight: 400;">
<a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine resemblance to our parents</a>
</li>
<li style="font-weight: 400;">
Prof. Lyudmila Angelova: A risk assessment screening program is offered to all pregnant women in countries with advanced healthcare.
</li>
<li style="font-weight: 400;">
<a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">Spinal muscular atrophy (SMA) - causes, clinic and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer">Types of thalassaemia, symptoms and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener">Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy</a>. Journal of Human Genetics, 2015
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener">Noninvasive prenatal testing: the future is now.</a> Reviews in obstetrics &amp; gynecology, 2012
</li>
</ol>

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&nbsp;

Cell-free DNA: Comparison of Technologies, Clin Lab Medicine, 2016

According to a new article, which will be published in the May issue of the journal Redox Biology, regular exercise can help prevent or reduce the severity of acute respiratory failure (ARDS) in those suffering from coronavirus infection. According to the authors of the article (Zhen Yan and Hannah R. Spaulding from the Hospital at the University of Virginia, University of Virginia Health System), a one-time exercise session increases the production of a critical antioxidant called extracellular superoxide dismutase, or EcSOD, helping to reduce the effects of COVID-19.

Why exercise is important in the fight against the coronavirus

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What is different about the new strain of coronavirus - Omicron and why is it advisable to get vaccinated, despite the concerns of scientists - read here. 

Should we get vaccinated in the light of the new SARS-CoV-2 strain, Omicron?

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We decided to provide our readers with information about medicinal plants, for which there is evidence in the scientific literature that they may support the symptomatic treatment of influenza and other respiratory infections. We will also indicate the potential dangers of using certain medicinal plants in the case of COVID-19.

5 herbs to relieve mild COVID-19 symptoms and how to prepare them

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Dr. Uğur Şahin and his team applied mRNA treatment, encoding autoantigen associated with multiple sclerosis, to different mouse models of the disease. The results of the study are promising.

Is mRNA vaccine an unexpected ally in the fight against multiple sclerosis

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Attention! It is important to note that pneumonia in Covid-19 has its peculiarities distinguishing it from other types of pneumonia, and now, more than ever, it is important to coordinate each action with a doctor, so as not to harm our health.

Saline inhalation may help with pneumonia

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As we have stated earlier, 85% of those infected with the new SARS-CoV-2 coronavirus and infected with COVID-19 in China received not only conventional treatment, but also therapy with herbs from Chinese traditional medicine. In this article, we will look separately at each of the herbs that have been used and what the science of them has to tell us. It's a pandemic, and hope lurks everywhere. :)

9 herbs China uses in the fight coronavirus (COVID-19)

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According to a study published by Chinese scientists in the International Journal of Biological Sciences, 85% of coronavirus patients in China are also given traditional Chinese medicine, which includes components of natural origin. One of the beneficial effects of this method is associated with relieving the severe side effects of conventional treatment of the disease.

Traditional Chinese medicine and the treatment of COVID-19

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Although epidemics have occurred throughout human history, at the moment they seem to be gaining strength. In the last 20 years alone, coronaviruses have caused three major outbreaks worldwide. Even more worryingly, the interval between these three pandemics is small. Suresh V Kuchipudi is a virologist and assistant director of the Animal Diagnostics Laboratory at Penn State University, which studies zoonotic viruses. Zoonotic disease is what can be transmitted from pets to humans. He observed that most of the pandemics have something in common, namely that they always start in Asia or Africa, and we do not realize the reasons that provoke them. With this material we will consider the analysis of the virologist.

Why a pandemic like COVID-19 won't be the last

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3 Types of Genetic Tests Before and During Pregnancy

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 3 Types of Genetic Tests Before and During Pregnancy

Силвия Маринова

Author: Yana Nencheva, Biochemist, PhD candidate in Biophysics

In recent years, the anti-vaccination movement has been gaining popularity and growing in numbers. False vaccination certificates issued by medical doctors to serve for children's enrollment in kindergarden or school, are not rarery spoken of. Children who are just waiting to reach adulthood to stand up to their parents and get vaccinated. These people began to associate with extreme vegetarians who protested for animal rights in the form of packaged frozen meat. They say they are conservationists. A distinction between&nbsp; between an ecologist and an environmentalist, or a homeopath, herbalist <a href="/p/koi_9_bilki_pomaghat_pri_kashlitsa_88c1e5ad_66c2_4b76_a42b_ca71d9d16c71" target="_blank" rel="noreferrer"></a> and nutritionist, becomes more and more vague and inintelligable for the general public

In this article, we will observe neutrality by explaining what alternative medicine is and point out all its 22 subtypes, referring to the classification of the National Medical Library of the United <a href="https://meshb.nlm.nih.gov/record/ui?ui=D000529" target="_blank" rel="noopener">States - MESH (Medical Subject Headings)</a> [ref. 1]. We will consider its benefits, for whom this type of treatment is appropriate and who should avoid it.

What-is-alternative-medicine

What is alternative medicine

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By definition, alternative medicine is a set of therapeutic practices that are not currently part of the generally accepted allopathic medical practice. Two types are considered:

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<ol>
<li style="font-weight: 400;">When the alternative type of therapy is used in conjunction with classical (conventional medicine), it is called complementary (complementary) medicine.</li>
<li style="font-weight: 400;">When the alternative type of practice is used instead of generally accepted medicine, it is called Alternative Medicine.</li>
</ol>

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Some units of alternative medicine often lack sufficient scientific evidence, but since they have been applied for centuries, they are well studied in practice (e.g. curative diet, acupuncture). Other parts of it are not so prevalent (Dry Needling e.g.) and there is a tendency for these types of therapies to disappear and leave only a historical footprint.

What-types-of-alternative-medicine-exist

What types of alternative medicine exist

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Some sources count down to 400-420 <a href="https://meshb.nlm.nih.gov/record/ui?ui=D000529" target="_blank" rel="noopener"></a> types of alternative practices, but officially according to the Classification of the National Medical Library, there are 22 basic subtypes of alternative medicine.

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1. Acupuncture - from Latin acus, "needle" and punctura "pricking", is a technique for treating disease by placing needles on certain, according to the disease, acupuncture points on the body. Sometimes used in combination withheat, herbs, acupressure and electrical stimulation.

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2. Anthroposophy – from Greek "anthropos" – man and "sofia" – wisdom is a spiritual, mystical doctrine founded in 1912.

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3. Auriculotherapy - a form of acupuncture, but the impact is only on points of the ear to treat other parts of the body.

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4. Cupping therapy - the practice involves placing cups on the skin to create a vacuum, which is believed to help increase blood flow and promote healing.

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5. Pain inhibiting pain (Diffuse Noxious Inhibitory Control, DNIC or conditioned pain modulation (CPM) - a physiological process in which pain in one part of the body is inhibited (suppressed) by deliberately submitted another painful stimulus induced elsewhere in the body.

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6. Dry Sewing (Dry Needling) - the intervention is performed with a thin needle that passes through the skin and affects specific muscle points in order to treat neuromuscular-skeletal pain and movement damage. The procedure is performed by qualified physiotherapists with additional training certification. The pain of the intervention is expected to be minimal and relax in a few seconds.

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7. Holistic medicine - according to her, people function as complete, integrated units, and when something is wrong, then the problem is in the whole; in her opinion, the disease is just one manifestation of a complete problem in life force.

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8. Homeopathy - the founder was Samuel Hahnemann in 1796, and the concept is to treat diseases with the highly diluted form of the substance causing the disease in question.

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9. Horticultural therapy - a therapeutic approach in which gardening is used to reduce stress, improve social, emotional, psychological and physical health.

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10. Integrative oncology - is based on therapies to reduce symptoms associated with the treatment of cancer.

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11. Traditional medicine&nbsp;- based on beliefs and practices passed down from generation to generation , includes mystical and magical rituals, phytotherapy and other treatments that modern medicine cannot explain.

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12. Mesotherapy - vitamins, extracts or other bioactive substances are used for local treatment with subcutaneous injections or perfusion of substances in the different layers of the skin under the epidermis.

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13. Therapies of the mind and body - methods or techniques of treatment, which are based on knowledge of the relationship between mind and body. These techniques often include ways to lower tension and stress in order to improve emotional, mental and physical healing.

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14. Musculoskeletal manipulations - various manipulations of body tissues, muscles and bones, with only hands or with the use of special equipment.

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15. Naturopathy - based on the belief that diseases can be cured or prevented without taking any medications. Treatment through a healthy lifestyle (clean water, air, sun), specific diet, exercise and massages.

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16. Organotherapy - a technique that uses animal organs, extracts and especially glands.

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17. Phytotherapy - this is a treatment with the use of plants or herbs. Aromatherapy is also part of this group, except for the group of Therapies of mind and body.

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18. Prolotherapy - This is one of the promising therapies with an 85-95% success rate.

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19. Reflexology (Reflexotherapy) - this is a local therapy, in which pressure is applied at certain points.

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20. Sensory art therapies - therapies that use different types of art, as well as those using the senses.

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21. Speleotherapy - in this type of therapy, conditions characteristic of caves (illumination, humidity) are reproduced and salt pans are made. This practice is used in a narrower range of medical conditions, mostly respiratory and skin conditions. It is believed that standing the patient in the salt shaker reduces irritations and the symptoms of the disease decrease or disappear.

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22. Spiritual therapy - includes a mix of mystical, religious, spiritual practices for healing purposes.

What-are-the-benefits-of-alternative-medicine

What are the benefits of alternative medicine

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"What are the benefits of alternative medicine?" is a difficult question that cannot be answered unambiguously, with a variety of methods. From a historical pointof view , until a very late stage of the scientificdevelopment of mankind, it was not possible to develop classical medicine as we know it today.

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Prehistoric medicine used herbs, potions, spiritual practices and rituals led by priests and shamans, which is quite natural.The <a href="http://www.touregypt.net/edwinsmithsurgical.htm" target="_blank" rel="noopener"></a> translation of the papyrus can be found HERE and you can look at a case for the diagnosis and treatment of the <a href="/p/oshchie_7_ghrupi_zaboliavaniia_koito_miedt_liekuva_6b2f7c31_1862_4ec9_a361_a9e7fb4094e1" target="_blank" rel="noreferrer"></a> sick. until [ref. 2] is strengthened.

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Over the years, science has begun to "check" alternative treatment practices to explain exactly how they work.

For-whom-is-alternative-medicine-treatment-appropriate

For whom is alternative medicine treatment appropriate

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In many cases, people are resorting to alternative treatments where classical medicine can no longer help and use unconfirmed or hesitant science-denied practices.It gives hope. Whether treatment is appropriate - sometimes it becomes a matter of personal choice.

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In fact, alternative medicine refers to a centuries-old "sample error" and if the medical practice is proven not to be harmful, It is quietly used, even if its positive result is not sure.

For-whom-is-alternative-medicine-treatment-contraindicated

For whom is alternative medicine treatment contraindicated

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Given that there are 22 types of categories and about 400 types of practices, it is not possible to say who alternative treatment is contraindicated for. This is an issue that depends on the type of therapy and on very many individual factors . Patients trust the doctor whotrusts them.

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In India, people do not trust classical medicine and would prefer a healer in the spiritual sense of the word than to be treated by a doctor in a clinic. In China, healers pass on the knowledge of Traditional Chinese Medicine generation to generation, from teacher to apprentice, for centuries and there, too, classical medicine is not so imposed. With us in Bulgaria it is only natural not to trust people who practice acupuncture or Indian healing practices after only 2-3 years of training.

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Finally, when we wonder whether to turn to alternative medicine, let us know thatclassical aims to be the most humane type of treatment at the heart of which is the Hippocratic Oath with "Primum non nocere", translated "First, do not harm" [ref. 3].

For-whom-is-alternative-medicine-treatment-contraindicated_4_4

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<a href="/p/17_dostpni_bilki_v_pomoshch_na_stradashchitie_ot_mnozhiestviena_sklieroza_e283f90a_9560_4d6e_9921_d3260c14b70c" target="_blank" rel="noreferrer">17 affordable herbs to help multiple sclerosis sufferers</a>

<a href="https://meshb.nlm.nih.gov/record/ui?ui=D000529" target="_blank" rel="noopener">National Medical Library of the United States - MESH (Medical Subject Headings)</a>

<a href="http://www.touregypt.net/edwinsmithsurgical.htm" target="_blank" rel="noopener">The Edwin Smith Surgical Papyrus</a>

<a href="http://www.zdravnitza.com/a/nav/rubrics/raz/2/cat/1/sub/1/rub/21" target="_blank" rel="noopener">What is this alternative medicine?</a> &nbsp;

Researchers from the Oregon State University conducted a study that could be pivotal to a new type 2 diabetes treatment and prevention.

Probiotics and type 2 diabetes

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There are 14,480 new cases of cervical cancer expected in the states in 2021, according to the American Cancer Society (1). Any woman can be affected by this disease. Fortunately, there are methods that can prevent the appearance of cervical cancer. One such method is the vaccine against human papilloma virus (HPV). 

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