1.
Dual Myelomeningoceles in Twins: Case Report, Review, and Insights for Etiology.
Kobets, A, Lee, RP, Oriko, D, Jackson, E, Robinson, S, Cohen, A, Groves, ML
Pediatric neurosurgery. 2020;(6):363-373
Abstract
INTRODUCTION Despite folate supplementation, neural tube defects (NTDs) still occur in 0.5-1.0/1,000 pregnancies, with 30-50% not preventable with folate. Twinning has increased due to artificial fertilization and in itself predisposes to NTDs at a rate of 1.6/1,000. The contributions of genetic and environmental factors to myelomeningocele development remain poorly understood. Expression patterns of congenital pathologies in twins can sometimes provide etiological insight. Concordance of NTDs in twins is 0.03/1,000, with dual myelomeningocele reported in only 23 pairs, only one of which survived. We present the 24th pair, the 1st to maintain lower extremity motor function. We review all prior cases and discuss implications of twin concordance on the interplay of genetic and environmental influences. Case Report and Review: A new case of female monozygotic twins born to a well-nourished 24-year-old female is reported with details of perioperative care. Prenatal ultrasound showed L3-S4 and L5-S4 myelomeningoceles, Chiari II malformations, and ventriculomegaly. Copy number microarray was unrevealing. Each underwent uncomplicated repair on day of life 1, and ventriculoperitoneal shunt placement on days of life 10 and 16. Both had movement in the legs upon 6-week follow-up. All prior reported cases of concordant twin myelomeningoceles were abstracted and analyzed, revealing persistence of occurrence despite folate supplementation and a majority occurring in dizygotic pairs. The literature is also reviewed to summarize current knowledge of myelomeningocele pathophysiology as it relates to genetic and environmental influences. DISCUSSION Meticulous surgical and perioperative care allowed for early positive outcomes in each twin. However, etiopathogenesis remains elusive. In general, only of a minority of cases have underlying genetic lesions or clear environmental triggers. Concordance in monozygotic twins argues for a strong genetic influence; yet, literature review reveals a higher rate of concordant dizygotic twins. This, along with the observation of differing resultant phenotypes in monozygotic twins as seen in this case, prompts further investigation into nonfolate environmental influences. While efforts in genetic investigation should continue, the role of teratogens and exposures should not be minimized in research efforts, public health, and family counseling. Clinical genetic testing remains of limited utility in the majority of patients until more is known.
2.
The living matrix: a model for the primary respiratory mechanism.
Lee, RP
Explore (New York, N.Y.). 2008;(6):374-8
Abstract
Presented here is a physiological model for the primary respiratory mechanism, palpable fluctuations in the tissues to which practitioners of cranial manipulation, visceral manipulation, and lymphatic drainage attribute healing effects. According to this model, the primary respiratory mechanism initiates metabolism and assures nutrients and waste products an efficient transit through the extracellular space. The extracellular matrix is an open, unstable system prone to changes of ionic concentration and macromolecular organization. The cells imbedded in the extracellular matrix are functionally coupled with it through integrins, receptors within the cell membrane. Integrins convey mechanotransduction: activation of intracellular enzyme systems and DNA through changes in extracellular electromechanical information. Utilizing the primary respiratory mechanism, clinicians effect improvements in varied conditions, some of which are reviewed.