Category Archives: Pediatrics

22Q on Video

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A couple recent youtube videos on 22Q deletion provide helpful information:

1. An Introduction to 22q112 Deletion Syndrome – YouTube –~20 minute video which provides an overview of the various problems and presentations of patients with 22Q deletion.

2. http://www.youtube.com/watch?v=34YhIYhNrdo -~ 5 minute video from the Netherlands conveys the message that kids with 22Q wanted to be treated like everyone else.

Related blog post:

Immunoglobulin deficiencies with DiGeorge Syndrome …  This post lists a number of references and resources related to 22Q (aka. DiGeorge Syndrome or Velocardiac Facial Syndrome).

Why I have always liked Arthur Caplan…

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I have been a fan of Arthur Caplan for a long time.  In medical school, I had the good fortune to study closely with several brilliant bioethicists including Baruch Brody and Tristram Engelhardt.  Since that time, I have remained interested in bioethics.  Arthur Caplan has been a leading voice in bioethics for a long time and often approaches topics in a no-nonsense manner.

A recent link (from John Pohl’s twitter feed) chronicle.com/blogs/conversation/2014/01/07/distinguishing-science-from-nonsense/ … and excerpt from Arthur Caplan addresses the need for a better appreciation of science; this short opinion piece ties together brain death, vaccines, evolution, and nutritional supplements:

A key reason for the poor performance of our children with respect to science is that American culture is both ignorant of and disrespectful to science.

As I write this, two women in ICUs in the United States are on life support despite having been pronounced dead by medical experts. These women, a teenager in Oakland, Calif., and a young woman in Fort Worth carrying a 14-week-old fetus when she died, were found to be dead on the basis of brain death. Both had their bodies maintained by machines (in Oakland it was with the support of her family; in Texas it was against family wishes). Neither the news media nor the medical profession seemed to be able to explain that brain death is truly death. Nor did the public seem inclined to listen, believing that somehow a miracle might occur.

At the same time as those cases emerged, a poll was released by the Pew Research Center showing that a third of Americans do not believe in evolution. They think that “humans and other living things have existed in their present form since the beginning of time.” Twenty-four percent acknowledge evolution but believe that a Supreme Being has directly guided life on earth.

And as I write this, flu season has begun. The federal Centers for Disease Control and Prevention estimates that last year 381,000 Americans were hospitalized because of the flu. They also estimate that the flu vaccine prevented 79,000 hospitalizations and 6.6 million illnesses. Yet a tiny cabal of kooks and know-nothings has gotten so much attention that barely half of all Americans get a flu shot.

The problem does not end there. The multibillion-dollar nutritional-supplements industry has no solid evidence for the efficacy of its products, while there are plenty of instances in which death and disability have been linked to poorly manufactured or mislabeled supplements. Yet our airwaves are full of ads and endorsements for this cornucopia of malarkey.

The point ought to be clear. Children are not going to flourish at science in a society that treats science either as something you can believe in selectively, something that is simply one point of view, or something about which anyone can have a credible opinion no matter how ill-qualified, dumb, or misinformed.

If we want to have a brighter economic future, then we need to start thinking about science education outside of our schools. We need editors who refuse to put fringe points of view on the air. We need scientists who see it as their duty to engage broader audiences—not just their peers—about their work. We need the training of scholars in the public understanding of science so that more voices are heard respecting science and the scientific method.

We need our courts to better vet who can speak for science. And we need more scientists as role models rather than the athletes and entertainers so put before the eyes of kids who may find it a bit hard to take chemistry, ecology, epidemiology, statistics, and geology seriously when their home life is filled with the musings of the casts of Duck Dynasty, Here Comes Honey Boo Boo, and Long Island Medium.

And we wonder why Johnny and Jane can’t distinguish science from nonsense.

Arthur L. Caplan is a professor of bioethics and director of the division of medical ethics at NYU Langone Medical Center.

Most Popular Posts

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Most popular posts: In the past year, the most popular posts from this blog were the following:

I want to thank all of you who provide feedback and wish you all a good year ahead.  As always, feel free to comment on posts or to send an email with suggestions.

Training for Tomorrow

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To those in the Pediatric GI community who follow this blog, particularly fellowship directors, I would urge you to have a forthright discussion about training in our field with your fellows.

After reading a recent NASPGHAN newsletter, I was concerned to find more than 110 first-year trainees (a significant increase over the last few years).  While some of these trainees have international origins and will return to their home countries, many others will be looking for job positions across the USA.  I personally think that the type of available job openings will be disappointing for many, though I recognize that “manpower” (is there a more politically correct word?) predictions have a poor track record.

My belief is that it is the ethical responsibility of each program to inform their applicants and their trainees of their potential job prospects. Ultimately, the number of pediatric gastroenterologists will adjust based on job openings and satisfaction along with other “market forces.”  Unfortunately, some in training may not be aware that their job prospects may be quite limited due to an overabundance of trainees.  Perhaps, trainees with specific niche area training such as neurogastroenterology or hepatology will have less difficulty.

The upside of the increase in trainees will be the availability of pediatric gastroenterologists to fill the spots repeatedly vacated by more senior physicians due to dissatisfaction.

My two cents…

What the “Post-Antibiotic Age” Really Means

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From the following site: When We Lose Antibiotics, Here’s Everything Else We’ll … – Wired

An excerpt:

If we really lost antibiotics to advancing drug resistance — and trust me, we’re not far off — here’s what we would lose. Not just the ability to treat infectious disease; that’s obvious.

But also: The ability to treat cancer, and to transplant organs, because doing those successfully relies on suppressing the immune system and willingly making ourselves vulnerable to infection. Any treatment that relies on a permanent port into the bloodstream — for instance, kidney dialysis. Any major open-cavity surgery, on the heart, the lungs, the abdomen. Any surgery on a part of the body that already harbors a population of bacteria: the guts, the bladder, the genitals. Implantable devices: new hips, new knees, new heart valves. Cosmetic plastic surgery. Liposuction. Tattoos.

We’d lose the ability to treat people after traumatic accidents, as major as crashing your car and as minor as your kid falling out of a tree. We’d lose the safety of modern childbirth: Before the antibiotic era, 5 women died out of every 1,000 who gave birth. One out of every nine skin infections killed. Three out of every 10 people who got pneumonia died from it.

And we’d lose, as well, a good portion of our cheap modern food supply. Most of the meat we eat in the industrialized world is raised with the routine use of antibiotics, to fatten livestock and protect them from the conditions in which the animals are raised.

Related posts:

Educated or Misinformed –Leading to Hemorrhagic Disease of the Newborn

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“Hemorrhagic Disease of the Newborn,” now termed “Vitamin K Deficient Bleeding,” has reemerged as a problem. Many well-intentioned parents are refusing vitamin K to keep things more ‘natural’ for their infants.  This phenomenon is likely encouraged by some alternative health websites and other parents; babies who are breastfed are at increased risk of vitamin K deficiency (without prophylaxis).  Unfortunately, they are playing Russian roulette with their infant’s safety. In addition, many practitioners will not readily recognize this disorder because of the effectiveness of Vitamin K prophylaxis that has been provided since 1961.

An excerpt from the St. Louis Dispatch provides more information: Four babies hemorrhage after parents refuse vitamin K shot, a practice on the rise

Maternity care providers here and nationwide are on high alert for life-threatening vitamin K deficiencies in newborns, at the same time they are seeing more parents refusing a routine preventive injection.

The Centers for Disease Control and Prevention released a report last month about four babies in Nashville, Tenn., who hemorrhaged after their parents refused vitamin K injections at birth. The babies were diagnosed with life-threatening vitamin K deficiency bleeding between February and September. Three had bleeding in the brain, and one had gastrointestinal bleeding. They survived, but the infants with brain hemorrhages could have long-term neurological problems.

“Not giving vitamin K at birth is an emerging trend that can have devastating outcomes for infants and their families,” CDC director Dr. Tom Frieden stated in the report. “Ensuring that every newborn receives a vitamin K injection at birth is critical to protect infants.”

The vitamin is necessary for normal blood clotting, but because vitamin K does not transfer well across the placenta, most babies are born with low levels. The deficiency can lead to a rare, sudden bleeding disorder up to 6 months of age.

The CDC investigation found that parents refused the injection for several reasons, including a concern about an increased risk for cancer from the injection, an impression that it was unnecessary and a desire to minimize exposure to “toxins.” A 1992 study associated vitamin K and childhood leukemia, but the findings have been debunked by subsequent studies…

The number of parents refusing is more alarming at birth centers, which provide care led by midwives who support natural birth. Among the most recent 75 births at the Birth and Wellness Center in O’Fallon, Mo., 23 percent refused the injection, and 14 percent opted for the oral dose, said Jessica Henman, the center’s certified nurse midwife.

The CDC studied a random sample of births this year in the Nashville, Tenn., area and found that parents of 3.4 percent of 3,080 newborns discharged from hospitals had refused the vitamin K injection, while parents of 28 percent of 218 born at birth centers had refused…

A newborn not getting the injection is 81 times more likely to get the late form of the disorder than a baby who gets the shot, according to the CDC. [my emphasis in bold]

Related link from Stanford:  Guidelines for Vitamin K Prophylaxis – Newborn Nursery at LPCH

Bottomline: When seeing an infant with bleeding, ask about vitamin K prophylaxis after birth.

If a parent caused intracranial hemorrhage in an infant by shaking the infant, they would probably be jailed.  What should be done in these cases?

Related blog post:

Bleeding due to vitamin K deficiency | gutsandgrowth

Did you see this? –Cost of multiple births

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“A good head and a good heart are always a formidable combination.” –Nelson Mandela

A recent study from the American Journal of Obstetrics and Gynecology has found that “the adjusted total health care cost for singletons was around $21,000 per delivery, but the number for twins was $105,000 and over $400,000 for triplets or more.”

“The Centers for Disease Control and Prevention (CDC) shows that in 2010, 3% of all births in the US were multiple deliveries. The twin birth rate was 33.2 per 1,000 live births, and the triplet or higher birth rate was 1.4 per 1,000 live births.”

“The research was based on nearly 440,000 births among US women aged 19-45 from 2005 to 2010… The tally included all medical expenses for the mothers from 27 weeks before birth until 30 days afterward, combined with the medical costs of infant care for the first year.”

Links (with more information):

Cancer Risk Not Increased with Assisted Conception

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Using a UK National registry with 106,013 children, investigators determined that there was no overall risk of cancer among children born after assisted conception during a 17-year study period (NEJM 2013; 369; 1819-27).

Among individual cancers, this cohort had an increased risk of hepatoblastoma and rhadomyosarcoma, though the absolute risk was quite low.  The risks for these cancers may be related to chance or indirectly related to parental infertility through mechanisms like low birth weight or imprinting disorders.

Autism Earlier -Gazing for Clues

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From NY Times twitter feed, http://t.co/smZBQimdUY:

Scientists are reporting the earliest behavioral sign to date that a child is likely to develop autism: when and how long a baby looks at other people’s eyes.

In a study published Wednesday, researchers using eye-tracking technology found that 3-year-olds diagnosed with autism looked less at people’s eyes when they were babies than children who did not develop autism.

But contrary to what the researchers expected, the difference was not apparent at birth. It emerged when babies were two to six months old, and autism experts said that may suggest a window during which the progression toward autism can be halted or slowed.

The study, published online in the journal Nature, found that infants later diagnosed with autism began spending less time looking at people’s eyes between two and six months of age and paid less and less attention to eyes as they grew older. By contrast, babies who did not develop autism looked increasingly at people’s eyes until about nine months old, and then kept their attention to eyes fairly constant into toddlerhood.

“This paper is a major leap forward,” said Dr. Lonnie Zwaigenbaum, a pediatrician and autism researcher at the University of Alberta, who was not involved in the study. “Documenting that there’s a developmental difference between two and six months is a major, major finding.”

The authors, Warren R. Jones and Ami Klin, both of the Marcus Autism Center and Emory University, also found that babies who showed the steepest decline in looking at people’s eyes over time developed the most severe autism….

Dr. Jones and Dr. Klin, who directs the autism center, studied two groups of babies. One group was at high risk for autism, with a 20 times greater likelihood of developing it because they had siblings with the disorder. The other group was at low risk, with no relatives with autism.

The researchers assessed 110 children, from two months to two years of age, ten times while watching videos of friendly women acting like playful caregivers. Eye-tracking technology traced when the babies looked at the women’s eyes, mouths and bodies, as well as toys or other objects in the background. At age three, the children were evaluated for autism. Ultimately, researchers used data from 36 boys, 11 of whom developed autism. (They excluded data from girls because only two developed autism.)

Related post:

“Too many vaccines and autism” is debunked | gutsandgrowth