Cool Genetic Facial Dysmorphism App

I recently downloaded a free Genetics App called Face2Gene.  My colleague Jeffery Lewis told me about this app.  This App helps identify specific genetic syndromes based on facial appearance.  In the first few weeks, a few syndromes that were identified included the following & this was based on very limited usage:

  • Coffin-Lowry
  • Williams Syndrome

Why Hospital$ Are Hiring More Doctor$

A recent article in the Wall Street Journal details the consequence of hospitals hiring more doctors, especially primary care.:

The Hidden System That Explains How Your Doctor Makes Referrals

Key points:

  • “Hospitals are getting more aggressive in directing how physicians refer for things such as surgeries, specialty care and magnetic resonance imaging scans, or MRIs.” This often results in more out-of-pocket expenses for patients.
  • “Insurers have been working to steer patients toward doctors’ offices and other non-hospital locations for many types of care, because they are generally less expensive. The same service often costs twice as much or more when delivered in a hospital setting, compared with a doctor’s office.”

Thanks to Bryan Vartabedian’s 33mail for this reference. He notes: “The doctors in the private space relished the article as evidence of the dangers of the physician employee. But we have to remember that when doctors own their own businesses, the pressure to do things for money is huge.”

Near Zabriskie Point at Sunrise, Death Valley

NPR: How to Help Kid Overcome Fear of Doctors and Shots

From NPR: How to Quell A Kid’s Fear of Doctors and Shots

An excerpt:

Sasha Albani, a child and adolescent psychotherapist… suggests parents calm themselves and find age-appropriate ways to help children face their medical fears instead of fleeing them.

For very young kids, who have a hard time putting words to thoughts and emotions, imaginary play with mom or dad before the appointment can help, Albani says.

“Use a toy doctor kit to explain what will happen at the appointment and to discuss your child’s specific worries,” she advises…

Children under age 6 may benefit from the book, “Daniel Visits the Doctor” by Becky Friedman.

Kids with needle phobias may be helped by reading, “Lions Aren’t Scared of Shots: A Story for Children About Visiting the Doctor,” by Howard S. Bennett. And the book “Imagine a Rainbow: A Child’s Guide for Soothing Pain,” by Brenda S. Miles, may be useful for older kids between the ages of 8 and 10.

Playing The Coping Skills Board Game can bolster the confidence of preteens… And smartphone apps like “Stop, Breathe & Think Kids” can be a fun way to learn mindful breathing techniques and other relaxation tips that help turn down the alarm of worrisome feelings.

Ledipasvir-Sofosbuvir for Children 6-11 years

Almost two years ago, the FDA approved Ledipasvir-Sofosbuvir (aka Harvoni) for pediatric patients 12-17 years of age with hepatitis C virus (HCV) infection.  Now, a recent study (KF Murray, WF Balistreri, S Bansal et al. Hepatology 2018; 68: 2158-66) is likely to expedite approval for children ages 6-11 years of age.

In this open-label study with 92 patients, 88 had genotype 1, 89 received treatment with ledipasvir-sofosbuvir without ribavirin for 12 weeks, 97% were perinatally-infected, and 78% were treatment naive.  The median age was 9 years. The dose (determined by intense pharmacokinetics) was 45 mg-200 mg (half the adult dosage). Two patients with genotype 3 HCV received ledipasvir-sofosbuvir for 24 weeks along with ribavirin.

Key findings:

  • SVR12 was 99% (91/91).  The single patient without SVR12 had relapsed 4 weeks after completing a 12 week treatment course.
  • Ledipasvir-sofosbuvir was well-tolerated; the common adverse events reported were headache and pyrexia.

The authors note that while most children are considered to have mild symptoms or are asymptomatic, some progress to have significant fibrosis or cirrhosis, a small minority develop hepatocellular carcinoma, and HCV infection can impact both cognitive development and overall health.

My take: This study confirms that effectiveness of DAA therapy with ledipasvir/sofosbuvir in children as young as 6 years of age.

Related study: F Tucci et al. Hepatology 2018; 68: 2434-37. The authors report the successful treatment with ledipasvir/sofosbuvir of an infant with both SCID and HCV infection.

Related blog posts:

Mesquite Flat Sand Dunes, Death Valley

Vedolizumab -Could it Work for Eosinophilic Gastroenteritis?

A recent study with only five patients (HP Kim et al. Clin Gastroenterol Hepatol 2018; 16: 1992-4) examined the use of vedolizumab for eosinophilic gastroenteritis.. The rationale was that α4β7 integrin may play an important role in eosinophilic localization in IBD and that blocking α4β7 may inhibit eosinophil recruitment to intestinal mucosa.  In addition, there are few proven therapies for EGE beyond steroids and dietary treatments.  The five patients in this study had been tried on numerous prior treatments and had a disease course of 6-17 years prior to vedolizumab.

Key findings:

  • Two of the five patients were able to wean/discontinue steroids, reported symptom improvement and had normal gastric and small bowel biopsies.  The median time to histologic followup was 2.2 months.
  • A third patient reported symptom improvement but declined a followup biopsy.

My take: A larger study of vedolizumab is needed for EGE.

Related blog posts:


Is Deamidated Gliadin Serology a Useful Adjunct in Screening for Celiac Disease?

A recent multicenter retrospective study (MJ Gould et al. JPGN 2019; 68: 20-5) shows that deamidated gliadin peptide (DGP) is rarely helpful in screening for celiac disease when tissue transglutaminase IgA is negative. The study identified 40 patients who had a mean age of 6.5 years at time of intestinal biopsy.

Key findings:

  • Of the 40 patients with DGP (IgG) positivity, only 1 patient (2.5%) had celiac disease; this patient was IgA deficient.
  • Among the five IgA deficient patients, only 1 with DGP positivity had celiac disease.
  • The cohort included 6 patients with DGP levels >250 U/mL (refernece <12).
  • Only 5 patients in this DGP positive cohort were younger than 2 years.  None had celiac disease

My take: This retrospective study indicates that DGP is rarely helpful in patients with negative TTG IgA results. However, this study had too few patients who were  <2 years of age and/or IgA-deficient patients to determine its utility in these groups..

Related study: AK Verma et al. JPGN 2019; 68: 26-29. This study from Italy examined oral hygiene products and determined that 62 (94%) were gluten-free (gluten level <20 ppm). Among the 4 with detectable gluten, 3 were toothpastes and 1 lipstick with values between 20.7 adn 35 ppm. My take: Oral hygiene products have very low rates of gluten contamination.

Related blog posts:

Golden Gulch Trail, Death Valley

Reason for Optimism

While yesterday’s post (No exaggeration: too many children are dying in U.S.) highlighted the numerous unnecessary childhood deaths in this country and previous posts have discussed the drop in life expectancy in this country, there are still reasons for optimism.

It has been said that newspapers/news programs never report on the thousands of airplanes that don’t crash everyday.  Similarly, it is easy to think that with so many challenges that we face everyday that the world is falling apart.  A recent NY Times commentary by Nicholas Kristof points out that 2018 was in fact the best year ever.

Why 2018 Was the Best Year in Human History!

An excerpt:

[In 2018] Each day on average, about another 295,000 people around the world gained access to electricity for the first time, according to Max Roser of Oxford University and his Our World in Data website. Every day, another 305,000 were able to access clean drinking water for the first time. And each day an additional 620,000 people were able to get online for the first time.

Never before has such a large portion of humanity been literate, enjoyed a middle-class cushion, lived such long lives, had access to family planning or been confident that their children would survive…

Child deaths are becoming far less common. Only about 4 percent of children worldwide now die by the age of 5. That’s still horrifying, but it’s down from 19 percent in 1960 and 7 percent in 2003…

Until about the 1950s, a majority of humans had always lived in “extreme poverty,” defined as less than about $2 a person per day. When I was a university student in the early 1980s, 44 percent of the world’s population lived in extreme poverty. Now, fewer than 10 percent of the world’s population lives in extreme poverty, as adjusted for inflation.

My take: This commentary points out that worldwide people are living longer and living better.

From Golden Gulch Trail, Death Valley