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Genetic Overlap of Endometriosis & Chronic pain conditions

Genetic Overlap of Endometriosis & Chronic pain conditions

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There is presently no cure for the disease endometriosis, which can lead to discomfort and infertility. In order to determine whether endometriosis has a hereditary component, researchers at the University of Oxford in the United Kingdom examined DNA samples from hundreds of female participants.

25 teams from around the world worked together with the researchers to collect and analyse a sizable amount of data from female participants with and without endometriosis.

Their results demonstrated a link between endometriosis and other inflammatory disorders in addition to demonstrating the genetic component of this condition. For those who have it, endometriosis can be a crippling ailment, and identifying it can be expensive and challenging.

Scientists from the University of Oxford collaborated with experts from other countries to study the DNA from tens of thousands of female volunteers. In order to understand more about the genetic variables influencing the illness. They found that endometriosis might be related to other inflammatory diseases.

Endometriosis overview

The endometrial lining, the tissue that lines the inside of the uterus, thickens during the menstrual cycle as part of the process. This lining usually sheds throughout the menstrual cycle if a person does not become pregnant.

A tissue that resembles this lining can occasionally proliferate where it shouldn’t, which is what happens with endometriosis. This lining may develop in the pelvic region, around the ovaries, or around the fallopian tubes. It can occasionally even grow around other organs like the intestines or the bladder.

Endometriosis symptoms and indicators might include:

The World Health Organization (WHO) estimates that 10% of menstrual women worldwide who are in their reproductive stage are affected by endometriosis.

The study methods

In order to ascertain whether there is probably a genetic component to endometriosis, the research team from the University of Oxford planned to undertake a genome-wide association study (GWAS). They did a meta-analysis of the data gathered.

The researchers gathered data from more than 60,000 people. People had been diagnosed with endometriosis in collaboration with 25 other teams. They compared it to DNA samples from slightly more than 700,000 people who had been diagnosed with endometriosis.However they not have the disease.

Participants with either European or East Asian heritage provided the samples.

The genetic differences between those who have endometriosis and those who do not were taken into consideration by the researchers when they examined the data. The implications of these variations on “endometrium, blood, and other important tissues” were also taken into account.

In order to determine whether there was a connection between endometriosis and nine other immunological or inflammatory illnesses, researchers also looked at those conditions.

Genetic map of endometriosis

The scientists discovered 42 genetic loci sites of genes or genetic sequences in the genome. They regarded important for developing endometriosis after reviewing the data provided.

This research supports the hypothesis that endometriosis may have a hereditary component, which may be important for the advancement of diagnostic procedures and therapeutic approaches.

The researchers were able to pinpoint a number of genes and hormone regulators that were linked to both endometriosis and other pain problems after further investigating these locations.

The scientists discovered links between a number of medical illnesses and symptoms, including asthma, osteoarthritis, chronic back pain, and migraines.

Senior research scientist at the Wellcome Centre for Human Genetics at the University of Oxford and the study’s first author, Dr. Nilufer Rahmioglu, spoke about the study.

“We were able to generate a treasure trove of new information about genetically driven endometriosis subtypes. Also, pain experience using different datasets of women with and without endometriosis. Some of which had unprecedented detailed data on surgical findings and pain experience collected using standardised criteria,” said Dr. Rahmioglu.

Links to IBS, migraine, asthma

MNT spoke with Dr. G. Thomas Ruiz, the head of OB/GYN at Memorial Care Orange Coast Medical Center in Fountain Valley, California, who was not associated with this study.

This study confirms the significance of a family history of endometriosis. Gynecologists have long known this, and this study confirms their theory, according to Dr. Ruiz.

Dr. Ruiz stated that the study’s huge sample size is a strength and that a lot of useful information can be extrapolated from it. He advises concentrating on the overall concept that “endometriosis and advanced stage endometriosis” have a genetic basis.

Dr. Ruiz continued, “There seems to be a connection between the body’s response to endometriosis and other inflammatory diseases like osteoarthritis and asthma.

The results of the study were also discussed by Dr. Steve Vasilev, an integrative gynecologic oncologist who is board-certified, the medical director of integrative gynecologic oncology at Providence Saint John’s Health Center, and a professor at Saint John’s Cancer Institute in Santa Monica, California. Dr. Vasilev was not involved in the study.

Diagnosis and management

Endometriosis may be the cause of persistent pelvic discomfort, painfully heavy periods, and other menstrual symptoms. Women who are concerned about these symptoms should speak with their gynaecologists.

There is currently no blood test that can validate a doctor’s diagnosis of endometriosis, according to recommendations published in the Canadian Medical Association Journal earlier this month.

Endometriosis is generally diagnosed by laparoscopic surgery. But like all operations, this one is a little intrusive and comes with certain dangers.

As a result, these new diagnostic guidelines advise doctors to detect endometriosis by combining patient history with imaging. Diagnostic techniques covered by the recommendations include magnetic resonance imaging (MRI) and transvaginal ultrasound.

Hormone therapy, such as birth control tablets can have efficacy rates of 60-80%, people with endometriosis can manage their symptoms. Nonetheless, surgery may be required to eliminate lesions in those who are attempting to get pregnant.

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Is Norethisterone good to treat gynecological disorders?

Is Norethisterone good to treat gynecological disorders?

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Gynecological Disorders

A woman’s reproductive organs undergo continuous change from puberty to menopause due to sexual activity, pregnancy, age, natural processes, etc. Gynecology is the branch of medicine that deals with the condition female reproductive systems (vagina, uterus, and ovaries).

A gynaecological disorder is a condition that affects the female reproductive organs. It including the breasts, the uterus, the ovaries, the fallopian tubes, the vagina, and the vulva. Almost every woman will experience a gynaecological problem at some point in her life. It may be disastrous or insignificant.

Types of Gynecological Disorders

There are many different tpes of Gynecological Disorders found in wome. Some of the most common types of disorder include,

  • PCOS(Polycystic ovary syndrome) – The most frequent reason for anovulatory infertility is PCOS. Women who have PCOS are more likely to develop a number od medical conditions. It includes endometrial cancer, endometrial hyperplasia, metabolic syndrome, type 2 diabetes, cardiovascular disease, obesity, obstructive sleep apnea, and mood problems.
  • Endometriosis – About 10% of women of reproductive age are affected by endometriosis, which significantly contributes to the formation of pelvic adhesions, infertility, ectopic pregnancy, and persistent pelvic pain.
  • Uterine Fibroids (leiomyomata) -The most frequent benign gynecologic tumour in women, uterine fibroids (leiomyomata) are linked to a number of harmful health outcomes, such as irregular uterine bleeding, pelvic pain, infertility, miscarriage, and preterm childbirth.
  • Vaginitis – Any condition that results in swelling or inflammation of the vulva and the vagina is referred to as vaginitis. Yeast infections, bacterial vaginosis, non-infectious vaginitis, and vaginitis that is transmitted through sexual contact are common types of vaginitis.
  • Menstrual Disorders – Irregular or heavy menstrual bleeding affects quality of life and can be a sign of underlying gynecologic diseases including endometrial polyps, uterine fibroids, or anovulatory disorders.

Norethisterone

Norethisterone is a medical drug available to us under the name Noriday which belongs to a class of medication called Progestins. This medicine is used for several women reproduction related disorders such as painful periods, premenstrual tension, breast cancer, endometriosis and also for the treatment of gynecological disorders.

How to use?

Norethisterone is available to us in a form of pill that must be taken by mouth with or without food as per your doctor’s prescription. It is usually taken once a day daily. The dosage and length of the treatment is based on your medical condition, response to the treatment and other medicine that you may be taking for the same or different reason. Swallow the tablet whole rather than chewing or crushing it in your mouth as it may release all the drug in your mouth which increases the risk of side effects.

Your doctor may start you with a low dose which will increase gradually. Take the medicine at the same time daily to get the most benefits from it. Do not increase your dose or take it more often than prescribed as this may also increase the risk of side effects without any improvement in your condition. Discuss all the other medicines that you might be taking along with  Norethisterone for the same or different reasons. Follow the medical prescription carefully and inform your doctor in case of any exception or confusion.

Side Effects of Norethisterone

Common side effects observed while medicating with Ibandronate are nausea, vomiting, headache, weight gain, bloating or breast tenderness, may occur. Inform your doctor if these conditions persist or get worse.

There are some serious side effects which must be informed to the doctor right away if observed such as lumps in the breast, mental/mood changes, severe stomach/abdominal pain, unusual changes in vaginal bleeding, dark urine, yellowing eyes/skin, etc. 

There are also some severe allergic reactions involved with these medications which require immediate medical attention if observed such as rash, itching/swelling (especially of the face/tongue/throat), trouble breathing, severe dizziness, chest/jaw/left arm pain, confusion, sudden dizziness/fainting, pain/swelling/warmth in the groin/calf, trouble speaking, sudden shortness of breath/rapid breathing, unusual headache, unusual sweating, weakness on one side of the body, vision problems/changes, etc.

Precaution before using Norethisterone

  • If you have any allergies, including those to other progestins or norethindrone, let your doctor or pharmacist know before using this drug. Inactive chemicals in this product have the potential to trigger allergic reactions or other issues. To learn more, speak with your pharmacist.
  • Inform your doctor or pharmacist of your medical history before taking this medication, especially of any of the following conditions such as blood clots (for example, in the legs, eyes, or lungs), blood clotting disorders (such as protein C or protein S deficiency), high blood pressure, abnormal breast exam, cancer (especially endometrial or breast cancer), low levels of “good” cholesterol (HDL), depression, diabetes, severe headaches/migraines, heart problems (such as heart valve disease, irregular heartbeat, Jaundice, liver disease (including tumours), unexplained vaginal bleeding, history of yellowing of the eyes or skin (jaundice) during pregnancy or while using hormonal birth control (such as pills or a patch).
  • Inform your surgeon or dentist of all the products you use prior to surgery (including prescription drugs, nonprescription drugs, and herbal products).
  • Your face and skin may develop blotchy, dark spots as a result of this drug (melasma). This effect could get worse in the sun. Keep sun exposure to a minimum. Avoid using sunlamps and tanning booths. When outdoors, wear protective gear and sunscreen.
  • Pregnancy should not be the time to use this drug. Inform your doctor as soon as possible if you become pregnant or suspect that you may be pregnant.
  • Small doses of this medicine may enter breast milk and cause unfavourable effects on a nursing newborn. Before breastfeeding, speak with your doctor.

Norethisterone effects on Gynecological Disorders

  • With regard to treating dysmenorrhea, causing amenorrhea for at least six months, and reducing the size of ovarian endometriomas, the current data showed that NET was effective.
  • Progestins have anti-inflammatory and anti-angiogenic effect in endometriotic tissues and do not raise the risk of thrombosis. In endometriosis, NET and DNG both seem to be equally effective at reducing pain and the size of lesions. DNG is anti-androgenic, but NET also exhibits this property. These two progestins lack the strong glucocorticoid or anti-mineralcorticoid effects that many other hormonal medications have. Even progestins by themselves may help in bone development. Because NET is partially converted to estrogens, this may be an advantage over DNG.

In conclusion, the available evidence points to NET as a viable treatment for endometriosis-related dysmenorrhea and for shrinking ovarian endometriomas. Oral progestins alone can be used at any age, have very few adverse effects, do not increase the risk of thrombosis, and are capable of suppressing ovulation and causing amenorrhea.

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