Hundreds of minor genetic mutations start to form in the cells of an embryo soon after conception, researchers have discovered.
The Yale University and Mayo Clinic scientists said that many of these mutations occur as sex cells are forming in the embryo. That means they can become part of the embryo’s genome and be passed on to the next generation.
“This opens up a larger perspective on human development,” study author Flora Vaccarino, a neuroscience professor at Yale, said in a Yale news release. “Some of our genome does not come from our parents.”
These early genetic mutations are also similar to those found in cancers, according to the researchers. They said this suggests that cancers can occur as a normal byproduct of cell division.
They added that their findings may provide new insight into the causes of neurodevelopmental disorders such as schizophrenia or autism. These conditions are primarily the result of genetic abnormalities, but no single gene inherited by parents has been found to cause a large number of cases.
The study may also help explain why one identical twin might have a genetic disorder while the other is healthy, or why some members of a family who carry a disease-causing mutation do not get sick, the researchers said.
The findings were published Dec. 7 in the journal Science.
My Take:
The next question is what is driving these genetic mutations? Environmental factors first come to mind but are some of the mutations random? What about maternal health and nutrition? How about paternal health issues prior to conception? If the mutation is favorable, does it offer enough advantage that it will be carried forward to future generations?
Friday, December 29, 2017
Friday, December 22, 2017
New Hope for Kids with Multiple Food Allergies
A treatment for kids with more than one dangerous food allergy show promise in early trials, researchers say.
Almost one-third of people with a food allergy have reactions to more than one type of food. This can increase the risk of accidental exposure and life-threatening anaphylaxis, according to researchers at Stanford University School of Medicine.
No treatment exists for multiple food allergies. Usually, patients are told to avoid the food triggers, but this requires constant attention to their diet.
“Patients find it very hard to live with multiple food allergies,” said study senior author Dr. Sharon Chinthrajah. “It puts a huge social and economic burden on families.”
In this new study, scientists combined the asthma drug omalizumab (Xolair) with immunotherapy for 48 children with more than one food allergy.
Immunotherapy exposes patients to tiny amounts of the foods that cause their allergic reactions. Gradually, the allergen dose is increased until the patient can tolerate normal amount of the food.
Taking omalizumab appeared to speed up the desensitization process without sacrificing safety, the researchers said.
The study participants were randomly assigned to receive the combined allergy treatment or a placebo. They were 4 to 15 years old and were allergic to a variety of foods, including almonds, cashews, eggs, hazelnuts, milk, peanuts, sesame, soy, walnuts and wheat.
The researchers found that after eight weeks of treatment 83% of the treatment group could tolerate a small dose of two food allergens versus 33% who took the placebo.
Almost one-third of people with a food allergy have reactions to more than one type of food. This can increase the risk of accidental exposure and life-threatening anaphylaxis, according to researchers at Stanford University School of Medicine.
No treatment exists for multiple food allergies. Usually, patients are told to avoid the food triggers, but this requires constant attention to their diet.
“Patients find it very hard to live with multiple food allergies,” said study senior author Dr. Sharon Chinthrajah. “It puts a huge social and economic burden on families.”
In this new study, scientists combined the asthma drug omalizumab (Xolair) with immunotherapy for 48 children with more than one food allergy.
Immunotherapy exposes patients to tiny amounts of the foods that cause their allergic reactions. Gradually, the allergen dose is increased until the patient can tolerate normal amount of the food.
Taking omalizumab appeared to speed up the desensitization process without sacrificing safety, the researchers said.
The study participants were randomly assigned to receive the combined allergy treatment or a placebo. They were 4 to 15 years old and were allergic to a variety of foods, including almonds, cashews, eggs, hazelnuts, milk, peanuts, sesame, soy, walnuts and wheat.
The researchers found that after eight weeks of treatment 83% of the treatment group could tolerate a small dose of two food allergens versus 33% who took the placebo.
Wednesday, December 20, 2017
Wisdom Wednesday: If Mom Has Rheumatoid Arthritis, Baby May Develop It Too
Children born to mothers with rheumatoid arthritis are at increased risk for the disease and other chronic health problems, a new study suggests.
The finding comes from an analysis of long-term follow-up data on all children born in Denmark in a 25-year period. That included more than 2,100 children born to women diagnosed with rheumatoid arthritis before pregnancy and 1.3 million children born to women who did not have the disease.
The children born to women with the disease were almost three [times] more likely to develop rheumatoid arthritis themselves, the study found. They also had a 2.2 times greater risk for thyroid disease and a 1.6 higher risk for epilepsy.
The study was published online Dec. 11 in the journal Arthritis Care and Research.
“Our results call for special attention on child development of rheumatoid arthritis, thyroid disease and epilepsy if exposed to rheumatoid arthritis in utero,” researcher Line Joelving said in a journal news release. She’s with the Centre for Clinical Epidemiology at Odense University Hospital in Denmark.
Monday, December 18, 2017
Postmenopausal Women Should Still Steer Clear of HRT
Yet again, the nation’s leading authority on preventive medicine says postmenopausal women should avoid hormone replacement therapy (HRT).
The U.S. Preventive Services Task Force is standing by its original recommendation that women who have already gone through menopause should avoid using female hormones to guard against osteoporosis or diabetes, said task force chairman Dr. David Grossman, a senior investigator at the Kaiser Permanente Washington Health Research Institute in Seattle.
“Basically, the task force concluded there was no overall benefit from taking hormones to prevent chronic conditions,” Grossman said. “There are some benefits, but we believe those potential benefits are outweighed by the harms, making this essentially no net benefit overall.”
The advisory covers all formulations of hormone replacement therapy, the task force said. The therapy can consist of pills or patches containing either estrogen or an estrogen/progesterone mix.
However, women undergoing menopause can use hormone replacement therapy short-term to treat symptoms such as hot flashes and vaginal dryness, said Dr. Suzanne Fenske, an assistant professor of obstetrics, gynecology and reproductive science with the Icahn School of Medicine at Mount Sinai in New York City.
“Hormone replacement therapy does still have a benefit to women with menopause whose symptoms do not respond to other treatment options,” Fenske said. “It really should be used to manage menopausal symptoms, rather than being used for any sort of preventative medicine.”
The task force first recommended against hormone replacement therapy for postmenopausal women in 2012. It updates its recommendations every four years to make sure they reflect the latest medical evidence.
The U.S. Preventive Services Task Force is standing by its original recommendation that women who have already gone through menopause should avoid using female hormones to guard against osteoporosis or diabetes, said task force chairman Dr. David Grossman, a senior investigator at the Kaiser Permanente Washington Health Research Institute in Seattle.
“Basically, the task force concluded there was no overall benefit from taking hormones to prevent chronic conditions,” Grossman said. “There are some benefits, but we believe those potential benefits are outweighed by the harms, making this essentially no net benefit overall.”
The advisory covers all formulations of hormone replacement therapy, the task force said. The therapy can consist of pills or patches containing either estrogen or an estrogen/progesterone mix.
However, women undergoing menopause can use hormone replacement therapy short-term to treat symptoms such as hot flashes and vaginal dryness, said Dr. Suzanne Fenske, an assistant professor of obstetrics, gynecology and reproductive science with the Icahn School of Medicine at Mount Sinai in New York City.
“Hormone replacement therapy does still have a benefit to women with menopause whose symptoms do not respond to other treatment options,” Fenske said. “It really should be used to manage menopausal symptoms, rather than being used for any sort of preventative medicine.”
The task force first recommended against hormone replacement therapy for postmenopausal women in 2012. It updates its recommendations every four years to make sure they reflect the latest medical evidence.
Friday, December 15, 2017
For Breast Cancer Patients, Less Time on Hormonal Meds?
Women with earlier-stage breast cancer may be able to spend less time on hormonal therapy without dimming their prognosis, a new study suggests.
In a trial of nearly 3,500 patients, researchers found that seven years of hormonal therapy was as effective as 10 years. By the study’s end, more than three-quarters of women in both groups were alive and recurrence-free.
The results are “important,” according to experts attending the San Antonio Breast Cancer Symposium, where the study was released Thursday.
Hormonal therapy involves drugs that block estrogen from fueling the growth of breast cancer cells. They include tamoxifen and a group of medications called aromatase inhibitors, such as anastrozole (Arimidex).
The problem is, the drugs can have difficult side effects like bone fractures hot flashes, sexual dysfunction and muscle and joint pain.
Some women do well on the medications, while others “feel terrible and want to come off them,” said Dr. Susan Domchek, of the University of Pennsylvania’s Abramson Cancer Center.
So, treatment decisions are always individual, she said, based on various factors, including a women’s personal likelihood of having a breast cancer recurrence.
In a trial of nearly 3,500 patients, researchers found that seven years of hormonal therapy was as effective as 10 years. By the study’s end, more than three-quarters of women in both groups were alive and recurrence-free.
The results are “important,” according to experts attending the San Antonio Breast Cancer Symposium, where the study was released Thursday.
Hormonal therapy involves drugs that block estrogen from fueling the growth of breast cancer cells. They include tamoxifen and a group of medications called aromatase inhibitors, such as anastrozole (Arimidex).
The problem is, the drugs can have difficult side effects like bone fractures hot flashes, sexual dysfunction and muscle and joint pain.
Some women do well on the medications, while others “feel terrible and want to come off them,” said Dr. Susan Domchek, of the University of Pennsylvania’s Abramson Cancer Center.
So, treatment decisions are always individual, she said, based on various factors, including a women’s personal likelihood of having a breast cancer recurrence.
Wednesday, December 13, 2017
Even Non-Heart Surgery May Harm Your Heart
Older adults commonly suffer damage to heart cells during various types of surgery – even non-heart related surgeries – and it can significantly raise their risk of dying from the procedure, a new study finds.
The research looked at a phenomenon called perioperative myocardial injury, or PMI. It refers to subtler heart damage that can happen during or soon after any type of surgery. Old patients and those who already have heart disease are at increased risk.
However, the condition is easily missed because most of the affected patients have no chest pain or other symptoms, according to Dr. Christian Puelacher, the first author on the new study. He’s a clinical researcher at Cardiovascular Research Institute Basel in Switzerland.
Puelacher’s team found that PMI may happen more often than doctors have typically thought: Of more than 2,000 high-risk patients screened, 1 in 7 developed PMI after a non-cardiac surgery, the study found.
“This suggests we’ve underestimated the number of myocardial [heart] injuries that occur during non-cardiac surgery,” said Dr. Alistair Phillips, co-chair of the surgeons’ section leadership council for the American College of Cardiology.
The cases were found because all of the patients – treated at the University Hospital Basel in Switzerland – were screened for PMI with a newer blood test: a so-called “high sensitivity” troponin test, which detects elevations in the heart protein troponin. When troponin levels rise, it’s a sign of heart damage, Phillips explained.
Monday, December 11, 2017
Birth Control Pill Tied to Slight Rise in Breast Cancer Risk
Newer versions of the birth control pill carry a similar increased risk of breast cancer as earlier ones that were abandoned in the 1990s, a new study reveals.
Woman taking modern formulations of the pill have a 20% increased risk of breast cancer compared with those who’ve never been on hormonal contraception, the study of almost 2 million Danish women found.
“The risk increases with increasing duration of use and persists for more than five years, if used for longer than five years,” said study author Lina Morch, a senior epidemiologist with the University of Copenhagen in Denmark.
Still, experts cautioned that the absolute risk of breast cancer for any one women on the Pill remains very low.
Nevertheless, a similar amount of risk prompted the U.S. Food and Drug Administration to yank high-estrogen formulations of the pill off the market back in the early 1990s, said Mia Gaudet, strategic director of breast and gynecologic cancer research for the American Cancer Society.
“There had been some changes to oral contraceptive formulations in the ‘90s, and there was the hope those formulations would result in a lower risk of breast cancer,” said Gaudet, who was not part of the study. “We see from this data that is not the case.”
The first wave of birth control pills contained doses as high as 150 mg of estrogen. As research began to link estrogen to breast cancer, the FDA took off the market any formulations that had more than 50 mg of estrogen, Gaudet said.
Woman taking modern formulations of the pill have a 20% increased risk of breast cancer compared with those who’ve never been on hormonal contraception, the study of almost 2 million Danish women found.
“The risk increases with increasing duration of use and persists for more than five years, if used for longer than five years,” said study author Lina Morch, a senior epidemiologist with the University of Copenhagen in Denmark.
Still, experts cautioned that the absolute risk of breast cancer for any one women on the Pill remains very low.
Nevertheless, a similar amount of risk prompted the U.S. Food and Drug Administration to yank high-estrogen formulations of the pill off the market back in the early 1990s, said Mia Gaudet, strategic director of breast and gynecologic cancer research for the American Cancer Society.
“There had been some changes to oral contraceptive formulations in the ‘90s, and there was the hope those formulations would result in a lower risk of breast cancer,” said Gaudet, who was not part of the study. “We see from this data that is not the case.”
The first wave of birth control pills contained doses as high as 150 mg of estrogen. As research began to link estrogen to breast cancer, the FDA took off the market any formulations that had more than 50 mg of estrogen, Gaudet said.
Friday, December 8, 2017
Intense Workouts May Boost Memory
The study of 95 healthy young adults showed that six weeks of 20-minute bouts of interval training led to significant improvements in what’s called high-interference memory. An example of this type of memory is distinguishing your car from another of the same make and mode.
Canadian scientists also found these workouts led to increases in a protein involved in the growth, function and survival of brain cells. The results were published in the November issue of the Journal of Cognitive Neuroscience.
The findings could prove important as an aging population leads to higher rates of Alzheimer’s disease and other types of dementia, according to the researchers from McMaster University in Hamilton, Ontario.
“Improvements in this type of memory from exercise might help to explain the previously established link between aerobic exercise and better academic performance,” said study author Jennifer Heisz. She’s an assistant professor in the department of kinesiology at McMaster.
“At the other end of our lifespan, as we reach our senior years, we might expect to see even greater benefits in individuals with memory impairment brought on by conditions such as dementia,” she added in a university news release.
The researchers are now assessing how exercise and metal training affects high-interference memory in older adults. “One hypothesis is that we will see greater benefits for older adults, given that this type of memory declines with age,” Heisz said.
Canadian scientists also found these workouts led to increases in a protein involved in the growth, function and survival of brain cells. The results were published in the November issue of the Journal of Cognitive Neuroscience.
The findings could prove important as an aging population leads to higher rates of Alzheimer’s disease and other types of dementia, according to the researchers from McMaster University in Hamilton, Ontario.
“Improvements in this type of memory from exercise might help to explain the previously established link between aerobic exercise and better academic performance,” said study author Jennifer Heisz. She’s an assistant professor in the department of kinesiology at McMaster.
“At the other end of our lifespan, as we reach our senior years, we might expect to see even greater benefits in individuals with memory impairment brought on by conditions such as dementia,” she added in a university news release.
The researchers are now assessing how exercise and metal training affects high-interference memory in older adults. “One hypothesis is that we will see greater benefits for older adults, given that this type of memory declines with age,” Heisz said.
Wednesday, December 6, 2017
Wisdom Wednesday: DAO Deficiency
Diamine oxidase (DAO) is the major enzyme involved in histamine metabolism and is responsible for ensuring a steady histamine level required for the balance of numerous chemical reactions taking place in the body.
DAO is the key enzyme responsible for the degradation of extracellular (free) histamine, regardless of whether the histamine originates from allergy-induced processes in the body or is consumed with food.
Histamine exerts its effects by binding to its 4 receptors: H1R, H2R, H3R and H4R on target cells in various tissues. Histamine receptors are located all over the body and have many important functions including:
- H1 receptors: Smooth muscle and endothelial cells affecting skin; blood vessels (Benadryl and Claritin block activity of these receptors)
- H2 receptors: Cells in the intestines control acid secretion, abdominal pain, and nausea; heart rate
- H3 receptors: Central nervous system controlling nerves, sleep, appetite and behavior.
- H4 receptors: Thymus, small intestine, spleen, colon, bone marrow and white blood cells; inflammatory response
The DAO gene is also involved in the metabolism of glutamate, an excitatory neurotransmitter found to be elevated in those with schizophrenia and bipolar disorders. The DAO snippet can be identified in genetic testing, like 23andme. If you have a primary deficiency it can lead to significantly reduced DAO enzyme activity. Individuals with a DAO gene mutation may have a tendency towards high histamine.
The DAO enzyme is dependent on vitamin B6, B12, iron, copper and vitamin C. Excess zinc will prevent copper absorption and may also be an issue in the diet.
Monday, December 4, 2017
Hospital Midwives, Lower C-Section Rates?
Expectant mothers seeking to lower their risk of a cesarean delivery might want to consider getting a midwife involved, a new study suggests.
In addition, midwives were tied to less need for a surgical incision called an episiotomy during childbirth, the researchers reported.
“More midwife-attended births may correlate with fewer obstetric procedures, which could lower costs without lowering the quality of care,” wrote study co-authors Laura Attanasio, of the University of Massachusetts Amherst, and Katy Kozhimannil of the University of Minnesota School of Public Health.
The study findings are based on 126 hospitals in New York state.
About 25% of those hospitals had no midwives. About half had midwives, but they attended less than 15% of births. At 7% of the hospitals, however, midwives attended more than four out of 10 births, according to the study.
In 2014, when the research was conducted, midwives were present at only 9% of U.S. births, the researchers noted. In other western countries – such as Australia, France and the United Kingdom – midwives attend two-thirds of births.
“This study is contributing to a body of research which shows that good outcomes for women at low risk in childbirth go hand-in-hand with lower use of medical procedures,” Attanasio said in a news release from the universities.
In addition, midwives were tied to less need for a surgical incision called an episiotomy during childbirth, the researchers reported.
“More midwife-attended births may correlate with fewer obstetric procedures, which could lower costs without lowering the quality of care,” wrote study co-authors Laura Attanasio, of the University of Massachusetts Amherst, and Katy Kozhimannil of the University of Minnesota School of Public Health.
The study findings are based on 126 hospitals in New York state.
About 25% of those hospitals had no midwives. About half had midwives, but they attended less than 15% of births. At 7% of the hospitals, however, midwives attended more than four out of 10 births, according to the study.
In 2014, when the research was conducted, midwives were present at only 9% of U.S. births, the researchers noted. In other western countries – such as Australia, France and the United Kingdom – midwives attend two-thirds of births.
“This study is contributing to a body of research which shows that good outcomes for women at low risk in childbirth go hand-in-hand with lower use of medical procedures,” Attanasio said in a news release from the universities.
Friday, December 1, 2017
It’s the Latest Diet Craze, But Is It Safe?
A nutritional fad called CICO – short for “Calories In, Calories Out” promises you can eat whatever you want, junk food included, and still shrink your waistline – as long as every day you expend more calories than you consume.
It’s a simplified approach to eating that essentially views fruits and vegetables through the same prism as candies and soda. All that matters is the total caloric tally.
Perhaps not surprisingly, many nutritional experts disagree. “Be healthy isn’t just about weight loss alone,” noted Lona Sandon, program director and assistant professor of clinical nutrition at the University of Texas Southwestern Medical Center in Dallas. “You have to consider the whole package.”
Sandon acknowledged that those who adopt a CICO approach to eating “might actually lose weight.” But there’s a downside: “nutrient deficiencies or even malnutrition,” she warned.
“You may not be providing all the nutrients your body needs if you are not paying attention to the types of foods you are putting in your body,” Sandon Said. “This could mean osteoporosis later in life, increased risk of cancer, heart disease, etcetera.”
Dietitian Connie Diekman added, “Weight loss, in an unhealthy way, is never a good idea.” She’s director of university nutrition at Washington University in St. Louis. “Managing calories to achieve weight loss is important, but if important nutrients are missing, then muscle mass will decline, bone health, mental acuity and many other essential functions will be compromised,” Diekman said.
It’s a simplified approach to eating that essentially views fruits and vegetables through the same prism as candies and soda. All that matters is the total caloric tally.
Perhaps not surprisingly, many nutritional experts disagree. “Be healthy isn’t just about weight loss alone,” noted Lona Sandon, program director and assistant professor of clinical nutrition at the University of Texas Southwestern Medical Center in Dallas. “You have to consider the whole package.”
Sandon acknowledged that those who adopt a CICO approach to eating “might actually lose weight.” But there’s a downside: “nutrient deficiencies or even malnutrition,” she warned.
“You may not be providing all the nutrients your body needs if you are not paying attention to the types of foods you are putting in your body,” Sandon Said. “This could mean osteoporosis later in life, increased risk of cancer, heart disease, etcetera.”
Dietitian Connie Diekman added, “Weight loss, in an unhealthy way, is never a good idea.” She’s director of university nutrition at Washington University in St. Louis. “Managing calories to achieve weight loss is important, but if important nutrients are missing, then muscle mass will decline, bone health, mental acuity and many other essential functions will be compromised,” Diekman said.
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