Category Archives: Infections

Vitamin D & Respiratory Infections

DI’ll try to make this short. Here are eight facts:

  1. Although we do not have actual statistics, a significant number of children and adults with MECP2 Duplication Syndrome have been tested and found to have abnormally low levels of vitamin D.
  2. The reason or reasons for this are not well understood. Limited exposure to sunlight, some medications (e.g., anticonvulsants) can lower levels of Vitamin D), dietary issues may play a role.
  3. Low bone density (including osteopenia and osteoporosis) low-energy fractures, and skeletal deformities have been reported frequently among individuals with MECP2 duplication.
  4. Individuals with MECP2 duplication typically have increased frequency of respiratory infections.
  5. While at least some factors that contribute to this increased risk are well known (e.g., weak immune response, aspiration) are will known, this increased risk appears to be the result of multiple interacting factors.
  6. A large body of research suggests that Vitamin D deficiency plays a role in lowering resistance to respiratory infections.
  7. This research DOES NOT provide evidence that supplementing vitamin D beyond recommended levels is helpful.
  8. Too much Vitamin D is not helpful and can be toxic.

Most of these facts have been well known for many years.

CONCLUSION: Considering these facts, families may want to ask their child’s doctor about checking vitamin levels, and supplementing if needed. Continue reading

Some thoughts on preventing pneumonia

pneumonia1I need to start with two disclaimers on this post. (1) This is not intended as medical advice. (2) Every individual with MECP2 Duplication Syndrome is different. Taken together this means these considerations are intended to suggest topics that families may discuss with their health care providers in order to determine IF and HOW they may apply to their child.

Children and adults with MECP2 Duplication Syndrome are always at increased risk for respiratory infections, but lately it has been particularly troubling to hear how many have been experiencing severe illnesses. It is important for parents to understand that some of this is beyond our control, no matter what we do to try to prevent it. But here are some things that might help at least a little.

Immunizations: Unless Continue reading

Sepsis, Septicemia, SIRS, and Septic Shock

This possepsist is not intended as medical advice, but it may suggest a topic to discuss with your child’s or loved one’s doctor. Sepsis is a difficult topic and the content may be disturbing to some readers. It is potentially life-threatening and there are no guaranteed ways of preventing or treating it, but the more that families know about sepsis, the better they can protect their family members, particularly those with MECP2 Duplication Syndrome.

September 13, 2015 is World Sepsis Day, but protecting individuals with MECP2 Duplication Syndrome from sepsis is something we need to think about every day.

What is Sepsis?

Sepsis is a condition caused by the body’s inflammatory response to an infection. Continue reading

Susceptability to Influenza in MECP2 Duplication

mouseRespiratory infections are a major challenge for individuals with MECP2 Duplication Syndrome. They are a major source of illness and are frequently life threatening. Most of the focus on studying these infections has focused on bacterial pneumonia. A recent study, however, looked at the effects of influenza A, a virus, on MECP2 Duplication laboratory mice. Continue reading

MECP2 and the Immune System

mouseI usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading

New Research on the Immune System in MECP2 Duplication Syndrome

clinImmBauer, M. et al. (2015). Infectious and Immunologic Phenotype of MECP2  Duplication Syndrome, Journal of Clinical Immunology, DOI 10.1007/s10875-015-0129-5

Back in July 2012, a previous post on this blog discussed  a German research project on pneumonia in MECP2 Duplication Syndrome ed by Michael Bauer. Some of your children may have participated in the study. Now, the results of this study have been published and they are quite interesting.  Continue reading

Major Breakthrough on Understanding Infections & MECP2 Duplication

stm_cover_dec5 The cover story in this weeks Science Translational Medicine reports on a new study that provides knowledge that is a critical first step in understanding the immune deficiency among individuals with MECP2 Duplication. Researchers found that both children and adults with the syndrome and lab mice with MECP2 Duplications lacked the ability to produce gamma interferon from specific T cells.

Continue reading

German Research on Pneumonia and Xq28 Duplication

Researchers at the Department of Pediatric Pulmonology and Immunology of the Charite in Berlin are currently undertaking a study of respiratory infections in individuals with MECP2 Duplication Syndrome. These researchers hope to determine the role of MECP2  and other duplicated genes in increased vulnerability. Their research is aimed at trying to determine if an extreme inflammatory response contributes to these infections and what causes these extreme inflammatory response in many individuals with MECP2 Duplication Syndrome. Continue reading

Results of Pneumonia and Lung Infection Poll: Part 4 Hospital-Acquired Infections and Discussion

This post is a follow up to:

Question 9 asked Has your child/family member with MECP2 Duplication Syndrome ever developed pneumonia ….While in the hospital for another reason?  ….  Continue reading

Results of Pneumonia and Lung Infection Poll: Part 3 Treatment

19 June 2012 Part 1 of this topic addressed the frequency of pneumonia or lung infection episodes among individuals with MECP2 Duplication Syndrome and Part2 addressed the severity of these episodes. Part 3 discusses treatments. Continue reading