Houston Area Pediatric Specialists

Independent pediatric specialists aim to serve our community. We want to share news and analysis regarding our specialties and our practices.


Showing posts with label Houston. Show all posts
Showing posts with label Houston. Show all posts

Sunday, February 19, 2012

High Air Pollution Days Can Increase the Risk of Asthma-related Hospitalization


In a recent study published in the Journal of Allergy and Clinical Immunology, researchers in Canada studied the effect on aeroallergens and the likelihood of hospitalization due to asthma.  As expected, aeroallergen exposure increased the risk of hospitalization.  However, that risk was amplified significantly on high air pollution days.


Does air pollution increase the effect of aeroallergens on hospitalization for asthma?

Background

Clinical experiments demonstrate that the asthmatic response to an aeroallergen can be enhanced by prior exposure to an air pollutant.

Objective

We sought to compare the effects of ambient aeroallergens on hospitalization for asthma between high and low air pollution days in 11 large Canadian cities.

Methods

Daily time-series analysis was used, and results were adjusted for day of the week, temperature, barometric pressure, and relative humidity.

Results

The relative risk of admission for an interquartile increase in tree pollen levels was 1.124 (95% CI, 1.101-1.147) on days of lower values of fine particulate matter with a median aerodynamic diameter less than or equal to 2.5 μm (PM2.5) compared with 1.179 (95% CI, 1.149-1.21) on days of higher PM2.5 values. Significant (P ≤ .05) differences in the relative risks of admission between lower versus higher values of particulate matter with a median aerodynamic diameter less than or equal to 10 μm in diameter were 1.149 (95% CI, 1.118-1.181) versus 1.210 (95% CI, 1.161-1.261) for ascomycetes, 1.112 (95% CI, 1.085-1.14) versus 1.302 (95% CI, 1.242-1.364) for basidiomycetes, 1.159 (95% CI, 1.125-1.195) versus 1.149 (95% CI, 1.129-1.169) for deuteromycetes, and 1.061 (95% CI, 1.016-1.107) versus 1.117 (95% CI, 1.092-1.143) for weeds.

Conclusion

We identified an association between aeroallergens and hospitalizations for asthma, which was enhanced on days of higher air pollution. Minimizing exposure to air pollution might reduce allergic exacerbations of asthma.



Saturday, February 18, 2012

Reporter Anthony Shadid’s Death Highlights Asthma Dangers


Reporter Anthony Shadid’s Death Highlights Asthma Dangers


Asthma experts responding to the death of New York Times correspondent Anthony Shadid 
say his death is a sad reminder of the potentially serious nature of his condition.
The 43-year-old journalist’s death, apparently the result of a severe asthma attack, occurred while he was on assignment in Syria. Times photographer Tyler Hicks, who was with Shadid at the time and tried to revive his colleague, said Shadid had already had a smaller asthma attack days before his death as the pair accompanied smugglers from Syria to Turkey. On the day of his death, Shadid collapsed, Hicks told the Times, and soon lost consciousness. Hicks said Shadid’s breathing was faint and shallow before he died.
Shadid’s father, Buddy Shadid, told the Associated Press that he believes his son’s allergy to horses triggered an allergic reaction that led to the asthma attack. He told the AP that his son had lived with asthma all his life and had his medications with him at the time.
The Asthma and Allergy Foundation of America issued a statement following the news that said the organization “is deeply saddened to learn of the death of Anthony Shadid due to asthma.
“Our thoughts are with his family, friends, colleagues and readers worldwide who will miss the clear, calm and truthful voice of his reporting,” the statement reads. “This tragedy is a sad reminder that there is still no cure for asthma.”
About 34.1 million Americans have been diagnosed with asthma by a health professional during their lifetimes, according to statistics from the American Academy of Allergy, Asthma and Immunology. And Dr. Harold Nelson, a professor of medicine at National Jewish Health in Denver,  said roughly 3,600 people die each year in the United States from asthma.
“Fortunately, this is down from a peak, some 15 years ago, of about 5,600,” Nelson said in an email, noting that the use of inhaled corticosteroids that reduce the likelihood of a severe, life-threatening attack. Despite this advance, he said, dangers still persist  for many.
“Individuals with asthma often underestimate the severity of their condition and often rely on ‘rescue medicine’ such as an albuterol inhaler to control their symptoms, he said. “These people are at increased risk of a severe and even fatal attack when they encounter ‘triggers’ for their asthma.”
The remoteness of Shadid’s location and the nature of his assignment may have also made management of his condition more difficult, doctors said.
“Being in a conflict zone, far from medical care, it is possible that Mr. Shadid focused on things other than his personal health,” said Dr. Sally Wenzel, director of the University of Pittsburgh Asthma Institute at UPMC, in an email to ABC News. “Often that may mean forgetting to take critical asthma medications that prevent severe asthma attacks, like inhaled corticosteroids.”
Doctors said that though Shadid’s circumstances may have made it difficult for him to ward off an asthma attack, most who live with asthma can take steps to protect themselves.
“Most deaths from asthma are preventable,” said Dr. Miles Weinberger, a professor of pediatrics at the University of Iowa. “A study on asthma deaths from the New England Journal of Medicine several years ago found that most were from what could be called ‘too little care too late’ — that is, there was sufficient time for intervention to have prevented the progression of an asthma exacerbation to a fatal conclusion.”
Though details have yet to emerge to confirm that Shadid’s death was indeed a result of an asthma attack, asthma doctors said that the sad story can serve as an important reminder to those who live with the condition to take necessary steps to stay safe.
Dr. Clifford Bassett, medical director of Allergy and Asthma Care of NY and an assistant clinical professor at the NYU School of Medicine, said those with the condition should have an “asthma action plan” to address any symptoms that could predict a serious attack.
...
“Avoiding known triggers of your asthma when you can is also a good idea,” Wenzel said, “but when you can’t avoid them — as would seem to be the case here — making sure that you are taking your daily corticosteroid medications can still help prevent these types of disastrous attacks.
“Asthma still kills. And it often kills young people with incredible futures.  Awareness — and appropriate treatment — is critically important.”

Monday, February 13, 2012

New Discovery May Help Limit the Side Effects of Certain Asthma Drugs

Discovery May Lead to Safer Treatments for Asthma, Allergies and Arthritis

ScienceDaily (Dec. 19, 2011)
Scientists have discovered a missing link between the body's biological clock and sugar metabolism system, a finding that may help avoid the serious side effects of drugs used for treating asthma, allergies and arthritis.

In a paper published last week inNature, scientists at the Salk Institute for Biological Studies report finding that proteins that control the body's biological rhythms, known as cryptochromes, also interact with metabolic switches that are targeted by certain anti-inflammatory drugs.
The finding suggests that side effects of current drugs might be avoided by considering patients' biological rhythms when administering drugs, or by developing new drugs that target the crypto chromes.

We knew that our sleep and wake cycle are tied to when our bodies process nutrients, but how this happened at the genetic and molecular level was a complete mystery," says Ronald M. Evans, a professor in Salk's Gene Expression Laboratory, who led the research team. "Now we've found the link between these two important systems, which could serve as a model for how other cellular processes are linked and could hold promise for better therapies."
Glucocorticoids are steroid hormones that occur naturally in the body and help control the amount of sugar in a person's blood, so that nutrient levels rise in the morning to fuel daily activities and fall again at night. They function in cells by interacting with glucocorticoid receptors, molecular switches on the outside of the nucleus, which Evans first discovered in 1985.
Glucocorticoids also play a role in regulating inflammation and are used as anti-inflammatory drugs for diseases caused by an overactive immune system, such as allergies, asthma and rheumatoid arthritis. They are also used to treat inflammation in cancer patients.

Saturday, January 28, 2012

Bacteria to Blame in Asthma Attacks in Children, Research Suggests




Bacteria to Blame in Asthma Attacks in Children, Research Suggests

ScienceDaily (Oct. 7, 2010) — Doctors have long known that viral infections can bring about asthma attacks and the shortness of breath, coughing, and wheezing associated with them. But while viral infections cannot be treated, scientists at the Danish Paediatric Asthma Centre (DPAC) at the University of Copenhagen and Gentofte Hospital have discovered that treatable bacterial infections can also cause asthma attacks. The discovery could revolutionize treatment.
"We found a significant relationship between bacterial infections and acute asthma attacks -- above and beyond the expected relationship between viral infections and attacks," says Hans Bisgaard, a professor of pediatrics at the DPAC.
The study examined 361 children between the ages of four weeks and three years to determine the presence of viral and bacterial infections during severe asthma attacks. The results conclude that the number of attacks was just as high in children with bacterial respiratory infections as in those with viral infections.
Using antibiotics to treat asthma attacks?
"This indicates that bacteria can exacerbate asthma symptoms even if they aren't infected with a virus," Professor Bisgaard says. "The findings open up an entirely new method for treating severe asthma attacks. We can't treat viral infections, but scientists will now look into whether treatment with antibiotics can help children when they have an asthma attack if they are also suffering from a bacterial infection."
"Being able to use antibiotics to treat asthma attacks in children would be revolutionary," Professor Bisgaard says.
The effects of antibiotics in treating asthma attacks will now be examined in large-scale, clinical study by the DPAC.
The research has been published in British Medical Journal on 4 October 2010.

Web address:
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Friday, January 20, 2012

Breastfeeding may prevent asthma


Breastfeeding may prevent asthma 

July 22nd, 2011 in Health 

Feeding a baby on only breast milk and for up to 6 months after birth can reduce their risk of developing asthma-related symptoms in early childhood, according to new research.
The study, which is published online today (21 July 2011) in the , looked at the impact of the duration of  and the introduction of alternative liquids or solids in addition to breast milk.
The researchers, from the Generation R Study, Erasmus Medical Center in The Netherlands, used questionnaires to gather data from over 5,000 children. They ascertained in the first 12 months after birth whether the children had ever been breastfed, when breastfeeding was stopped, and whether any other milk or solids were introduced.
Further questionnaires were completed when the children were aged 1, 2, 3 and 4 years to check whether they had any asthma-related symptoms.
The results showed that children who had never been breastfed had an increased risk of wheezing, shortness of breath, dry cough and persistent phlegm during their first 4 years, compared to children who were breastfed for more than 6 months.
The strongest links were seen with wheezing and persistent phlegm, as children were 1.4 and 1.5 times more likely to develop these symptoms if they had never been breastfed.
Children who were fed other milk or solids during their first 4 months in addition to  had an increased risk of wheezing,  and persistent phlegm during the first 4 years, compared to children who were exclusively breastfed for their first 4 months.
While previous studies have shown a similar effect between breastfeeding and asthma risk, this research is the first that showed a link between the length of breastfeeding and the number of wheezing episodes. Also, this study found evidence that the first asthma-related symptoms occur earlier in life if children were breastfed for shorter lengths of time or not exclusively.
Dr Agnes Sonnenschein-van der Voort, researcher at Generation R and lead author from the Erasmus Medical Center in The Netherlands, said: "The link of duration and exclusiveness of breastfeeding with asthma-related symptoms during the first 4 years was independent of infectious and atopic diseases. These results support current health policy strategies that promote exclusive breastfeeding for 6 months in industrialised countries. Further studies are needed to explore the protective effect of breastfeeding on the various types of  in later life."
Provided by European Lung Foundation
"Breastfeeding may prevent asthma." July 22nd, 2011. http://medicalxpress.com/news/2011-07-breastfeeding-asthma.html

Saturday, December 10, 2011

How Obese is Obese Enough to Take a Child from Their Home?


How Obese is Obese Enough to Take a Child from Their Home?


Last week I was asked to be an expert for a HLN story involving an 8-year-old boy in Cuyahoga Falls, Ohio. This boy is morbidly obese, tipping the scales at 218 pounds. The Department of Children and Family Services took the boy into foster care after they felt the mother was unable to follow through with appropriate measures prescribed for the boy in order to lose weight. The mother’s defense was that she was going to school, in addition to working as an elementary teacher.  She felt that she could not monitor the child at all times.   Apparently, family members and friends were sneaking food to the boy.  DCFS reported that they had worked with mom for a year and saw no improvement. The State Health Department estimates that more than 12 percent of third graders statewide (Ohio) are severely obese. That could mean as many as 1,380 kids in Cuyahoga County alone. This story is the first time anyone could recall a child being taken from a parent strictly due to weight-related issues.
To consider the idea that the state can handle this issue by removing an obese child from the home and placing him in foster care is not only absurd, but dangerous to the development of children. Most likely, there will not be enough foster homes and even if there were, will the parents in those homes be able to handle the issues an obese child struggles with? According to recent polls, one out of every three children is morbidly obese. This is not a child crisis; instead, this is a family crisis. In this situation, the child suffered from sleep apnea, which meant he was hooked up to a machine at night that monitors and assists his breathing. Many obese children suffer asthma, diabetes, heart disease, hypertension, anxiety, and depression.
Obesity certainly has genetic components, but to simply throw your hands in the air with complete surrender to the fate is not being a responsible parent.  Taking a child away from the family he knows and loves borders on cruelty. Removal of a child from his/her home should only be done as a last resort to protect that child from imminent harm (the child in this case had no other medical conditions except for sleep apnea). Many times, removing a child from their home is experienced so intensely by the child that they would resort to food even more as the only thing they could control. Depression, anxiety, and a heightened loss of self-esteem may be the result. What are we telling a child if we allow them to be taken from us, because we were not able to change our lives enough to help him? I make it clear to all of the parents I work with that if you have a morbidly obese child, it takes a family to support them with a healthy lifestyle. There can be no enablers and “good guys or bad guys” with offering the child unhealthy foods or a lifestyle conducive to obesity.
If you have a child you are concerned with who struggles with obesity, you have more power within your family than any treatment facility known. The problem is that, many times, you know your child is hurting and that breaks your heart. The guilt you feel from that affects your ability to hold a firm and loving boundary that your child needs. These suggestions will help you get started.

Saturday, November 26, 2011

Houston Physician Serving Pediatrics at Memorial City Named Top Hospitalist of 2011


NORTH HOLLYWOOD, Calif., Nov 23, 2011 (BUSINESS WIRE) -- IPC The Hospitalist Company, Inc. IPCM -0.88% , a leading national hospitalist physician group practice company, announced today that Jasmin M. Baleva, M.D., and David Bowman, M.D. were named by ACP Hospitalist as two of the Top Ten Hospitalists in the nation. Both were recognized in the November 2011 issue of the magazine, a publication of the American College of Physicians.
Dr. Baleva, IPC's Practice Group Leader at Memorial Hermann Memorial City Medical Center in Houston, Texas, launched the first medical-pediatrics practice group in the Houston area. As a medical-pediatrics hospitalist, her patients range from newborns to end-of-life cases in various clinical environments. An IPC physician since 2001, Dr. Baleva was the first hospitalist in Houston to initiate an organized effort to bring a hospitalist practice group into skilled nursing and assisted living facilities. She was also instrumental in starting a long-term acute care (LTAC) hospitalist practice at Methodist Hospital Willowbrook in Houston. In April 2011, Dr. Baleva was recognized as an IPC Hospitalist of the Year.
Dr. Bowman serves as Regional Executive Director for the IPC practice group in Tucson, Arizona. He leads a team of 80 hospitalists, which he grew from a small presence when he joined the company in 2000. In October of this year, Dr. Bowman's achievements as a physician executive were also recognized by the Medical Group Management Association (MGMA) and American College of Medical Practice Executives (ACMPE) which honored him with the "Physician Executive of the Year" award for 2011. It is also noteworthy that in January 2011 Dr. Bowman was the first physician on the scene helping the victims of the Tucson, Arizona shooting, when six people were killed and 13 others injured, including U.S. Representative Gabrielle Giffords (D-Ariz.).
"We are very proud that both Dr. Baleva and Dr. Bowman have been honored by the ACP as two of the country's eminent hospitalists," said Adam Singer, M.D., chairman and CEO of IPC The Hospitalist Company. "Both physicians exemplify IPC's core values of leadership, professionalism and teamwork, representing our commitment to delivery of the highest quality patient care."
http://www.marketwatch.com/story/two-physicians-from-ipc-the-hospitalist-company-named-top-hospitalists-of-2011-2011-11-23



Wednesday, October 19, 2011

Cellphones Exceed U.S. FCC Exposure Limits by as Much as Double for Children, Study Finds


Cellphones Exceed U.S. FCC Exposure Limits by as Much as Double for Children, Study Finds

ScienceDaily (Oct. 18, 2011) — A scholarly article on cell phone safety to be published online Oct. 17 in the journal Electromagnetic Biology and Medicine reports the finding that cell phones used in the shirt or pants pocket exceed the U.S. Federal Communications Commission (FCC) exposure guidelines and that children absorb twice as much microwave radiation from phones as do adults.
The paper notes that the industry-designed process for evaluating microwave radiation from phones results in children absorbing twice the cellphone radiation to their heads, up to triple in their brain's hippocampus and hypothalamus, greater absorption in their eyes, and as much as 10 times more in their bone marrow when compared to adults.
The paper's authors include three team members at Environmental Health Trust: Devra Davis, PhD, MPH, Founder and President; L. Lloyd Morgan, Senior Science Fellow; and Ronald B. Herberman, MD, Chairman of the Board.
The existing process is based on a large man whose 40 brain tissues are assumed to be exactly the same. A far better system relies on anatomically based models of people of various ages, including pregnant women, that can determine the absorbed radiation in all tissue types, and can account for the increased absorption in children. It allows for cell phones to be certified with the most vulnerable users in mind -- children -- consistent with the "As Low As Reasonably Achievable" (ALARA) approach taken in setting standards for using radiological devices.
In the United States, the FCC determines maximum allowed exposures. Many countries, especially European Union members, use the "guidelines" of the International Commission on Non-Ionizing Radiation Protection (ICNIRP), a non-governmental agency.
Three additional authors contributed to the paper: Om P. Gandhi, ScD, of the Department of Electrical Engineering at the University of Utah; Alvaro Augusto de Salles, PhD, of the Electrical Engineering Department at the Federal University of Rio Grande do Sul in Brazil; and Yueh-Ying Han, PhD, of the Department of Epidemiology and Community Health at New York Medical College. Drs. Gandhi and De Salles serve on EHT's Scientific Advisory Group.



Link

Sunday, October 9, 2011

Houston student strives to overcome concussions - 5 in three years.


Houston student strives to overcome concussions

Cornerstone Academy eighth-grade student Davis Lamberton has suffered five concussions in three years but has overcome disruptions in his life caused by the injuries.



Posted: Sunday, October 9, 2011 9:23 pm
It was a play Davis Lamberton had run countless times.
Lined up as a receiver during an October 2010 game, his responsibility was to block the defensive end.
A defensive end himself, Lamberton was used to collisions. As he routinely initiated contact once more both players’ helmets collided, but the effect on Lamberton was significant.
“On film it doesn’t look like a helmet-jarring hit,” said Joe Malouf, an assistant coach on the Spring Branch Memorial Sports Association team Lamberton played for last year. “We were kind of shocked he had a concussion. On an event like that you usually see a violent collision. But he got up and went back to the huddle. He was talking but it just wasn’t correct so we had our trainer look at him.”
Members of the team and coaching staff of The Cardinal, the SBMSA varsity (ages 11-12) division team for which Lamberton played in 2010, got Lamberton off the field and his parents took him to the emergency room.
“The game was just about over and he was stumbling on the field,” Davis’ mother Meredith Lamberton said. “In the huddle he couldn’t remember if they had won or lost. The coach pulled me over and said something wasn’t right. His head was killing him.”
Lamberton, who has not played football since, was diagnosed with a concussion and his symptoms lingered. Currently an eighth-grade student at Spring Branch ISD’s Cornerstone Academy, he recalls struggling with reading, classroom instruction, migraine-level pain, sensitivity to light and balance issues, among other symptoms, during the course of more than two months.
“School got really hard,” Lamberton said. “Usually I got straight As, but it got really hard. Socially it became kind of hard. I’d have headaches, I’d be dizzy and just confused. One day I just completely couldn’t subtract.”
Lamberton recovered from his October 2010 concussion but has since had two more. One occurred in February during a game of flag tag at school. This past September he said he was kicking a soccer ball with his friends when struck with another concussion.
“We were just playing soccer and the ball was in the air,” Lamberton said. “I thought to head it, and I did. It felt really weird. It seemed so small, but it really put it in perspective that I need to take it easy.”
Fortunately, Lamberton has been supported in recovery by family, friends, educators and physicians. He advanced through a trying seventh-grade year at Cornerstone and has broadened his interests in addition to athletics.
ROAD TO RECOVERY
Lamberton has been unusually susceptible to concussions, also suffering two mild head injuries prior to the one he sustained on the football field. He has had five concussions in three years.
Knowledge and awareness has increased for concussions, particularly in youth sports, reflected by the passing of Natasha’s Law in Texas this year.
According to the official journal of the American Academy of Pediatrics, it is estimated more than three million recreation- and sport-related concussions occur annually in the United States, though several go undiagnosed. In high school sports, football, girls soccer, boys lacrosse, boys soccer and girls basketball are the leading producers of traumatic brain injuries.
Dr. Joshua Rotenberg treats neurological conditions in children, teens and young adults, as well as sleep disorders in adults at Texas Medical and Sleep Specialists in the Memorial City Medical Plaza. Though he said the high school sports season has coincided with an increase in concussion patients, athletics are merely one cause.
“More concussions are from falls and motor vehicle accidents,” said Rotenberg, who has treated Lamberton since his October 2010 concussion. “It’s great that awareness is being raised through sports, but I think one of the important messages to get out is it’s not just sports. Any impulsive force to any part of the body which causes a brain deceleration can cause concussion.
“Davis is in an atypical position. But it illustrates the point that even if you keep a young person out of sports they can still fall down and have a concussion playing in the yard or at recess.”
As Rotenberg noted the most significant aspect of treating a concussion is rest, both physical and cognitive. The AAP recommends shortening days and reducing workloads in school during recovery, while limiting exposure to computers, video games and television at home.
Rest can be accompanied by exercises to build tolerance to symptoms, including trouble with balance and dizziness. Lamberton said one test included spinning in a chair until he was dizzy. Another involved focusing on his extended finger while turning his head back and forth, which Lamberton said he struggled with at first but gradually had less trouble with.
Lamberton rehabilitated at Memorial Hermann’s TIRR outpatient facility at Kirby Glen following his October 2010 concussion.
Rotenberg said the duration of the recovery process can vary and symptoms differ for each individual. Meredith Lamberton observed her son had post-concussion symptoms for two months following his football injury.
“Typically young people are impaired longer than adults,” said Rotenberg, also a member of the Spring Branch ISD Concussion Management Team. “My message to families when they come in is it is likely to take months to improve. When it does it can improve quickly. Seventy-five to 80 percent of concussions are resolved by the three-week mark, but it kind of depends on how closely you look.”
SCHOLASTIC SUPPORT

full article

Sunday, October 2, 2011

Special Needs Teacher Accused Of Using Vinegar-Soaked Cotton Balls To Discipline Students - Katy, TX


Special Needs Teacher Accused Of Using Vinegar-Soaked Cotton Balls To Discipline Students



A Katy, Texas, special needs teacher is under fire for allegedly engaging in some highly questionable discipline practices.
According to KPRC, Pam Manning, a teacher at Exley Elementary, and two aides have been accused of soaking cotton balls in vinegar and forcing students to hold them in their mouths, as a form of discipline. The practice came to light after one parent reported witnessing it first-hand.
The accused have since been removed from the classroom. Manning is currently on contract arbitration with the district, KPRC said.
"The things that these folks have been alleged to have been engaged in were not approved by the parents, were not condoned by the school district," school district spokesman Steve Stanford told the local news station. "That is why they have been removed from the classroom and we have taken the steps that we have."



Link to story

Link to KHOU

Sunday, September 18, 2011

Screening for Jewish Genetic Diseases

Yesterday I attended a presentation by the Atlanta Jewish Gene Screen.  Important take-home points:

  1. There are now 19 known genetic diseases  that are common in Jews of European origin.  Some of these are common in all Europeans (e.g  cystic fibrosis, SMA). 
  2.  One in 5 Jews of Eastern European origin are carriers for one of these diseases. 
  3. If you have even one Jewish grandparent of European origin  or if your heritage is unknown, you should be screened for carrier state of one of these illnesses. 
  4. If your  partner is a Jew by choice (i.e a convert to Judaism) or if you are an interfaith couple, screen the Jewish partner 1st.
  5. Some of these illnesses are treatable.  In any case, knowledge gives you the power to prepare for the future.
  6.  If you have any questions, talk to a genetic counselor.
  7. Check if genetic testing is covered by your insurance. Sometimes it is not covered. In any case, the cost of screening has dropped to a few hundred dollars.  
Call my office for any questions.  
Dr. Josh Rotenberg. 
www.txmss.com 713-464-4107

We have made Eden's story public because we wanted to save other families from suffering this tragedy. If every prospective Jewish parent takes one simple blood test, we can make sure Eden’s story does not happen again. - Caroline & Andy Gold


Download the full list here


The Atlanta Jewish Gene Screen link is an awareness and community screening campaign generously funded by The Marcus Foundation. Spearheaded by the Victor Center for the Prevention of Jewish Genetic Diseases, the project is dedicated to building awareness among doctors, rabbis and our community about the genetic diseases affecting Ashkenazi Jews; the importance of genetic counseling and screening; the availability of preconception screening for all 19 preventable and many life-threatening disorders; and the need to update screening prior to each pregnancy. The Atlanta Jewish Gene Screen is also hosting two community screenings a year: one in the fall and one in the spring. Advanced registration will be required on this site.


Face the Facts, it’s not just Tay-Sachs!
Currently, there is carrier testing for 19 preventable genetic diseases affecting Ashkenazi Jews, most of which are life threatening. Below are brief descriptions of each disorder with the approximate carrier rate (the proportion of Ashkenazi Jews who have a single copy of the specific recessive gene mutation) in parenthesis.
Bloom Syndrome - Characterized by short stature, a sun-sensitive skin rash, an increased susceptibility to infections and higher incidence of leukemia and other cancers. (1 in 100)
Canavan Disease - A neurodegenerative disorder that presents with normal development until 2-4 months and then there is a progressive loss of skills. Those affected typically die in childhood but may live into adolescence. (1 in 40)
Cystic Fibrosis - Causes the body to produce thick mucus that accumulates in the lungs and digestive tract, resulting in lung infections and poor growth. (1 in 25)
Dihydrolipoamide Dehydrogenase Deficiency (DLD Deficiency) - Presents in early infancy with poor feeding, frequent episodes of vomiting, lethargy and developmental delay. Affected individuals develop seizures, enlarged liver, blindness and ultimately suffer an early death. (1 in 96)
Familial Dysautonomia - Causes the autonomic and sensory nervous system to malfunction, affecting the regulation of body temperature, blood pressure and stress response, and causes decreased sensitivity to pain. Frequent pneumonia and poor growth may occur. (1 in 30)
Familial Hyperinsulinism - Characterized by hypoglycemia that can vary from mild to severe. It can be present in the immediate newborn period through the first year of life with symptoms such as seizures, poor muscle tone, poor feeding and sleep disorders. Medical or surgical management can control glucose levels. (1 in 66)
Fanconi Anemia Type C - Associated with short stature, bone marrow failure, and a predisposition to leukemia and other cancers. Some children have limb, heart or kidney abnormalities and learning difficulties. (1 in 89)
Gaucher Disease Type 1 - A variable condition both in age of onset and symptoms. It may present with a painful, enlarged spleen, anemia, and low white blood cell count. Bone deterioration is a major cause of pain and disability. Treatment is available. (1 in 14)
Glycogen Storage Disease, Type 1a - A metabolic disorder that causes poor blood sugar maintenance with sudden drops in blood sugar, growth failure, enlarged liver and anemia. Disease management involves lifelong diet modification. (1 in 71)
Joubert Syndrome - Characterized by structural malformations of the cerebellar vermis. The most common features of Joubert syndrome in infants include abnormally rapid breathing, hypotonia, jerky eye movements (oculomotor apraxia), developmental delay, and ataxia. Kidney and liver abnormalities can develop, and seizures may also occur. (1 in 92)
Maple Syrup Urine Disease - A variable disorder of amino acid metabolism. Named for the characteristic maple syrup smell of urine in those with the disorder. With careful dietary control, normal growth and development is possible. If untreated, it can lead to poor feeding, lethargy, seizures and coma. (1 in 81)
Mucolipidosis IV (ML4) - A progressive neurological disorder with variable symptoms beginning in infancy. Characteristics include muscle weakness, severe intellectual disabilities and eye problems. (1 in 125)
Nemaline Myopathy - This is the most common congenital myopathy. Infants are born with hypotonia and usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life but development is delayed. (1 in 66)
Niemann-Pick Disease Type A - A progressive neurodegenerative disease in which a harmful amount of fatty substance accumulates in different parts of the body leading to death by age two to four years old. (1 in 90)
Tay-Sachs Disease - An apparently healthy child begins to lose skills around 4-6 months of age and there is a progressive neurological decline leading to blindness, seizures and unresponsiveness. Death usually occurs by the age of 4-6. (1 in 25)
Spinal Muscular Atrophy (SMA) - A group of diseases affecting the motor neurons of the spinal cord and brain stem, which are responsible for supplying electrical and chemical signals to muscle cells. Without proper signals, muscle cells do not function properly and become much smaller (atrophy), leading to muscle weakness. Individuals affected with SMA have progressive muscle degeneration and weakness, eventually leading to death. (1 in 41)
Usher Syndrome Type 1F - Characterized by profound hearing loss which is present at birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly impairs vision. (1 in 141)
Usher Syndrome Type III - Causes progressive hearing loss and vision loss. Hearing is often normal at birth with progressive hearing loss typically beginning during childhood or early adolescence. Often leads to blindness by adulthood. (1 in 107) 
Walker-Warburg Syndrome is a severe muscle, eye, brain syndrome. It presents with muscle weakness, feeding difficulties, seizures, blindness with eye and brain anomalies and delayed development. Life expectancy is below 3 years. The carrier frequency in the Ashkenazi population for one Ashkenazi founder mutation is approximately 1 in 149 and the detection rate is >95%.

Tuesday, August 23, 2011

5 Things Athletes should know about concussions


5 things athletes should know about concussions


As summer comes to an end, thousands of young athletes head back to the field for football, cheerleading and other sports. And the question is posed – who is paying attention to their heads?

The bad news: there are approximately 3.8 million sport and recreation-related concussions in the United States each year.

The good news: Texas law (as of Aug. 1) now requires school districts to make sure children get the standard of neurologic care required to limit the long-term damage concussions can impose.

According to the new law, districts must establish a “concussion management team” that includes at least one physician, and any student-athlete showing symptoms of concussion must be removed from competition and not may not return until evaluated by the physician and at least one other member of that team.

The University Interscholastic League threw in its two cents to the law by adding a rule that also went into effect Aug. 1 stating that high school athletes competing in a University Interscholastic League-sanctioned sport are no longer allowed to return to games or practices on the same day they are injured.

“Concussion is a mild traumatic brain injury,” said Dr. Joshua Rotenberg, pediatric neurologist and neurologic medical director of Texas Medical and Sleep Specialists, in a press release.

“While the state guidelines are excellent and exceedingly important,” he added.

“They don't replace a parent's keen eye and gut intuition. Parents need to know what to look for and what to do if a child is injured during a game on or off the field.” Rotenberg offered the following tips to identify and properly treat this type of traumatic brain injury.

Remove the athlete from play. Look for signs and symptoms of a concussion if your athlete has experienced a bump or blow to the head or body. Early brain and body rest will speed recovery.

Know the signs and symptoms of a concussion. Some of the common symptoms children, teens and young adults may experience include, but are not limited to:

Appearing dazed, stunned or confused

Forgetting sports plays

Moving clumsily, slowly or hesitantly

Answering questions or thinking slowly

Loss of consciousness

Inability to recall events before or after the hit or fall

Headache or “pressure” in head

Nausea or vomiting

Double or blurry vision

Sensitivity to light and noise

Be proactive. If you notice changes in behavior, seek immediate medical attention. You can't see a concussion and some athletes may not experience symptoms until hours or even days after an injury.

Follow a step-wise process prior to returning to play. Although most concussions are mild in nature, it is still important to proceed with caution. Consider having your child evaluated by a specialist in all aspects of head injuries.

Don't dismiss too quickly. Post concussive syndrome, which may include headaches, dizziness and sensitivity to light, can last for up to a year or more after the injury and is not associated with the severity of the initial injury. If these persistent symptoms appear immediately or weeks or months after the injury, take your child to see a specialist.

According to Rotenberg, most people with a concussion will recover quickly and fully. But for some people, the signs and symptoms of concussion can last for days, weeks or longer.

Because some neurologic abnormalities can only be detected by specialists, Rotenberg said pediatric neurologists might recommend a neuropsychological evaluation in addition to a specialized neurologic examination.

Texas Medical and Sleep Specialists may be reached at 249-5020 or www.txmss.com for more information.



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