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2 Types Of Turner SyndromeEffect On Girls
Turner syndrome is a rare female-only genetic disorder that affects around one in every 2,500 baby girls. It is characterized by the partial or total loss of the second sex chromosome and is associated with growth problems and underdevelopment of the ovaries. There is no cure for this condition, but medication and therapies can be used to manage some of the symptoms.
What is Turner syndrome?Turner syndrome also known as gonadal dysgenesis is a genetic disorder that affects only girls. Human beings generally have 23 pairs of chromosomes – a total of 46 chromosomes. One of these chromosome pairs dictates a person's sex at birth. The condition occurs when one of the sex hormones is partial or missing. This chromosomal abnormality affects the growth and sexual development of girls with Turner syndrome, as well as causing a range of other difficulties.
Variations of Turner syndromeThere are two types of Turner syndrome:
The condition occurs randomly during conception. There is nothing you can do to reduce the risk of this happening. Scientists do not know why this condition occurs randomly. Maternal age is not a factor, and family history doesn't increase your likelihood of having a daughter with Turner syndrome.
Some girls are given an early diagnosis because symptoms are present at birth. Potential symptoms present at birth are:
There is a wide range of symptoms associated with this condition. Common symptoms are:
Other varying symptoms are:
Children with this condition often exhibit normal growth until age three, when their growth slows. At puberty, the height difference between most girls with the condition and their peers increases. Women with untreated Turner syndrome might be significantly shorter than their peers. High-doses of hormone treatments can improve growth and reduce this difference by around 5 cm.
Does Turner syndrome effect infertility?Turner syndrome is characterized by a missing sex chromosome. During puberty, ovaries start to produce estrogen and, later, progesterone. These hormones are the catalyst for a girl to start her menstrual periods. Girls with Turner syndrome do not produce enough of these hormones to trigger menstruation.
Girls with this condition might need hormone replacement therapy (HRT) to aid their sexual development. They are also likely to need help having a baby. Some women that carry the condition can conceive naturally.
Although infertility is common among girls with the syndrome, and they are likely to be infertile, the reproductive organs develop normally, allowing women who have the syndrome to have a normal sex life.
Infertility is common among women with the syndrome. Very few women with this condition can conceive naturally. Assisted conception, such as In Vitro Fertilization (IVF), can help women with Turner Syndrome to have a baby.
Turner syndrome facial featuresGirls and women with the syndrome might have some of the following physical characteristics:
Other physical features associated are:
Some girls make it through early childhood and into their teenage years without a diagnosis. Often, a doctor will diagnose Turner syndrome when a girl doesn't show signs of the sexual development associated with normal puberty. Amniocentesis is a diagnostic test that can identify cases in utero.
To learn more about amniocentesis, look at BellyBelly's article Amniocentesis: Definition, Risks And What To Expect.
It is possible to diagnose this condition during pregnancy. Some cases are diagnosed at a routine ultrasound scan if kidney or heart problems are identified. Lymphoedema causes swelling, which can also be visible on an ultrasound scan.
Other conditions associated with Turner syndromeWomen and girls born with Gonadal Dysgenesis can also be affected by associated conditions, including:
Women and girls with the condition are usually within the normal range for intelligence; they are, however, at increased risk of certain learning difficulties.The following learning difficulties are associated:
There is no cure for this condition, though it is possible to treat some symptoms. Regular health checks can help girls and women with the syndrome to lead a healthy, normal life.
Depending on her symptoms, a child diagnosed is likely to have access to a team of medical specialists, including:
Possible treatments are:
Women with Turner syndrome have an increased risk of complications during pregnancy. If you have this condition, it's essential to inform your doctor when you discover you're pregnant. You will be under the care of a heart specialist for the duration of your pregnancy. It's also essential to choose an OBGYN who is experienced in high-risk pregnancies.
Turner syndrome and life expectancySadly, women with the syndrome have a shorter than average life expectancy. According to a study published in the Journal of the American Heart Association, life expectancy was shorter for people with Turner syndrome, and heart problems were a common cause of death.
Regular health checks and early treatment for any health problems can help to improve life expectancy.
Can Turner syndrome be prevented?No. There is nothing you can do to prevent Turner syndrome. It occurs randomly. If your baby is diagnosed with the condition, there isn't anything you could have done to prevent it, and you shouldn't blame yourself.
What to expect if your baby has Turner syndromeThe impact of Turner syndrome can vary wildly between individuals. It's not possible to predict how your child will be affected. The best thing you can do is educate yourself about the condition so you are able to spot potential problems as they arise. It's crucial to make sure your child has access to a team of specialists from birth. If your child has Turner syndrome diagnosed, you will be offered support to help you be an advocate for your child.
Rare 'stiff Person Syndrome' Treated With Reconfigured Cancer Therapy
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In CAR T-cell therapy, immune cells (pictured) are removed from the body, tweaked in a lab and then returned to the patient, usually to treat cancer. .Credit: cgtoolbox via Getty Images
Stiff person syndrome — a rare, progressive disorder that causes painful muscle spasms — can be treated with a therapy typically used for cancer, a new case report suggests.
In stiff person syndrome (SPS), the immune system attacks a key protein in the nervous system. The condition is rare, affecting fewer than 5,000 people in the U.S., but it recently gained attention when Canadian singer Céline Dion announced she had SPS.
Those most severely affected by SPS develop progressively worse muscle stiffness, eventually leaving them bedbound, while chest spasms can sometimes hinder their breathing. There is currently no cure for SPS, only treatments to subdue the symptoms — but these don't always help.
Now, a case study published in June in the journal PNAS highlights a potential new treatment for people with SPS.
Related: Women have 4 times men's rate of autoimmune disease. The X chromosome may be to blame.
One of the greatest challenges people with SPS deal with is getting a diagnosis, because the disease is rare and its symptoms resemble those of other disorders. In 2014, Dr. Simon Faissner, a neurologist in the St. Josef Hospital at the Ruhr University of Bochum, met the patient featured in the case report. She reported stiffness and pain when moving, but her case notes said that previous physicians thought her symptoms were psychosomatic — brought on by a psychological condition.
Faissner performed a lumbar puncture test, revealing that the patient's cerebrospinal fluid, which circulates through the spinal cord and the brain, was packed with antibodies against a protein called glutamic acid decarboxylase (GAD). GAD is needed to make GABA, a chemical messenger that helps tamp down neuron activity. Without it, the brain fires off signals at an excessive rate, leading to the muscle cramps and stiffness seen in SPS.
Following her diagnosis, the patient started therapies that dampened these GAD-targeting antibodies and stabilized her condition for several years. However, by 2023, her condition had deteriorated, leaving her unable to walk for a time.
To try and alleviate some of the patient's symptoms, Faissner and Dr. Jeremias Motte, another St. Josef Hospital neurologist, decided to use a new treatment: an adapted CAR T-cell therapy.
This treatment uses immune cells called T cells, which hunt down and kill abnormal and diseased cells in the body. The therapy involves removing some of a patient's T cells and tweaking them to take aim at a specific target — typically cancer.
However, in the new case report, the researchers aimed CAR T cells' crosshairs at antibody-producing immune cells, called B cells. This approach had previously been tried as a treatment for an autoimmune condition called lupus nephritis, but Faissner and Motte wanted to see if it could help their SPS patient.
Existing SPS therapies also target B cells but less thoroughly. "It's not such a deep depletion of B-cells," Motte told Live Science. "Not so deep in the lymph nodes and not so deep in the organs, muscles or in the bone marrow."
The idea is that CAR T-cell therapy eliminates the disease-driving B cells but leaves behind a population of "baby B cells," Motte said. These then repopulate the body without making harmful antibodies.
"It's like a rebooting of a computer system," Faissner told Live Science. "The problematic immunological system should be erased [following the therapy]."
The treatment had a rapid effect, the team revealed in the case report. The patient had recovered some ability to walk prior to getting the therapy, and within six months of the one-time treatment, her walking speed doubled. She was still fatigued and stiff, but she went from walking only several yards to around 4 miles (6 kilometers) a day.
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The patient was also able to discontinue all other immunotherapies and reduce her use of benzodiazepines, which help make up for lost GABA function.
"It's an impressive improvement," Marinos Dalakas, a neurologist at Thomas Jefferson University who developed one of the first immunotherapies for SPS back in 2001, told Live Science.
Dalakas, who was not involved in the case, pointed out that the new treatment remains experimental. Future trials will have to expand on the limited data offered by a single case study. He also noted that there's a mid-stage clinical trial of a different CAR T-cell therapy for SPS happening, although it will be some time before any results are available.
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Sequencing Technique Searches For Complex Genomic Variants To Provide Accurate Diagnosis Within Hours
Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given.
Now, KAUST researchers and scientists across Saudi Arabia have developed NanoRanger, an accurate and rapid method for genetically diagnosing such diseases in a few hours. The study is published in the journal Med.
"Precise, efficient genomic diagnosis is urgently needed to improve patient outcomes and facilitate carrier screening," says Yingzi Zhang, a Ph.D. Candidate at KAUST, supervised by Mo Li.
"This study aligns with Saudi Arabia's Vision 2030—advancing health care through innovation to improve quality of life for all citizens."
Mendelian disorders—including nervous system and intellectual developmental conditions—are caused by either an alteration in one particular gene or an abnormal rearrangement in one segment of the genome. Each disease has a specific "breakpoint"— the genomic location of a structural variant where DNA is deleted, rearranged or inverted.
While these variants may be identified using traditional screening techniques, the sheer complexity of the rearrangements means they are often missed. Mendelian diseases are inheritable, particularly if both parents are carriers of the same faulty segment. Such diseases are more prevalent in regions where it is common for marriage between related individuals (consanguinity).
"NanoRanger uses simple molecular biology strategies to 'fish out' genomic regions that are suspected of harboring complex mutations, deletions or rearrangements," says Li.
The technique is cost-effective and requires only a tiny amount of DNA from a patient or suspected carrier. NanoRanger takes a sample of genomic DNA and uses molecular scissors called restriction enzymes to fragment the DNA into pieces with the same end sequences.
These pieces are then self-joined into circles and amplified, which makes it easier to target and sequence the genomic regions of interest using Oxford Nanopore Technologies' long-read sequencing technology.
"Using our custom-developed data analysis tool, NanoRanger accurately maps breakpoints at single base-pair resolution, providing a detailed picture that helps diagnose the genetic disorder," says Zhang. "Diagnosis can be as fast as 12 minutes after initial sequencing, which is a game-changer."
In trials done in collaboration with a group of Saudi clinicians led by Fowzan Alkuraya at King Faisal Specialist Hospital & Research Center, NanoRanger successfully identified precise breakpoints in 13 familial cases of genomic disorders that were missed by conventional genetic tests. Using these breakpoints, the researchers then screened the carrier status of related family members and 1,000 healthy Saudi individuals.
The testing method prompted one Saudi couple in the trial to opt for in vitro fertilization after they were both found to carry the genomic deletion for an inherited Mendelian disease.
"We have filed for a patent, and plan to integrate NanoRanger into standard diagnostic routines to provide a comprehensive toolkit for clinical settings, both here in Saudi Arabia and across the world," concludes Li.
More information: NanoRanger enables rapid single base-pair resolution of genomic disorders, Med (2024). DOI: 10.1016/j.Medj.2024.07.003. Www.Cell.Com/med/fulltext/S2666-6340(24)00262-9
Citation: Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours (2024, July 23) retrieved 23 July 2024 from https://medicalxpress.Com/news/2024-07-sequencing-technique-complex-genomic-variants.Html
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