NSIDRC Journal Article Alert — November 2, 2007

Past issues of NSIDRC journal alerts are available at: http://www.sidscenter.org/

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ.
*Molecular and Functional Characterization of Novel Glycerol-3-Phosphate Dehydrogenase 1 Like Gene (GPD1-L) Mutations in Sudden Infant Death Syndrome.
*Circulation. 2007 Oct 29; [Epub ahead of print].*

*BACKGROUND: -Autopsy-negative sudden unexplained death, including sudden infant death syndrome, can be caused by cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for approximately 20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) disrupted trafficking of SCN5A in a multigenerational family with BrS. We hypothesized that mutations in GPD1-L may be responsible for some cases of sudden unexplained death/sudden infant death syndrome. Methods and Results-Using denaturing high-performance liquid chromatography and direct DNA sequencing, we performed comprehensive open-reading frame/splice site mutational analysis of GPD1-L on genomic DNA extracted from necropsy tissue of 83 unrelated cases of sudden unexplained death (26 females, 57 males; average age, 14.6+/-10.7 years; range, 1 month to 48 years). A putative, sudden unexplained death-associated GPD1-L missense mutation, E83K, was discovered in a 3-month-old white boy. Further mutational analysis was then performed on genomic DNA derived from a population-based cohort of 221 anonymous cases of sudden infant death syndrome (84 females, 137 males; average age, 3+/-2 months; range, 3 days to 12 months), revealing 2 additional mutations, I124V and R273C, in a 5-week-old white girl and a 1-month-old white boy, respectively. All mutations occurred in highly conserved residues and were absent in 600 reference alleles. Compared with wild-type GPD1-L, GPD1-L mutations coexpressed with SCN5A in heterologous HEK cells produced a significantly reduced sodium current (P<0.01). Adenovirus-mediated gene transfer of the E83K-GPD1-L mutation into neonatal mouse myocytes markedly attenuated the sodium current (P<0.01). These decreases in current density are consistent with sodium channel loss-of-function diseases like BrS. Conclusions-The present study is the first to report mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate.*

*Full-text available at: http://circ.ahajournals.org/

Xia L, Leiter JC, Bartlett Jr D., Alexander GR, Wingate MS, Boulet S.
*Pregnancy outcomes of American Indians: Contrasts among regions and with other ethnic groups.*
Matern Child Health J. 2007 Oct 25; [Epub ahead of print].

Objectives The two-fold purpose of this analysis is first to contrast the maternal risk factors and birth outcomes of American Indians (AIs) with other race/ethnic groups and to compare the maternal risk factors and birth outcomes of AIs by region to assess whether there are geographic variations in the adverse outcomes that might suggest intervention strategies. Study Design This study used the National Center for Health Statistics live birth infant death cohort files from 1995-2001. Singleton live births to U.S. resident mothers were selected. The analyses were limited to non-Hispanic American Indians, including Aleuts and Eskimos (n = 239,494), Non-Hispanic White (n = 15,488,133), and Hispanic births (n = 5,284,978). Results This comparison of birth characteristics and outcomes by ethnic group revealed that AIs have more adverse maternal risk factors (e.g., unmarried and <18 years of age) than Whites and Hispanics. After adjustment for these factors, AIs have higher risks of low birth weight and preterm birth and elevated risks of postneonatal and infant mortality. Their cause-specific rates for perinatal, SIDS, injury and infection are also higher. The regional analysis indicated the South/Northeast have more low birth weight and preterm problems, but the Mid-West has the highest risks of infant mortality among LBW infants gestational age-specific mortality rates, and mortality from SIDS. Conclusions These data show that AIs are not a homogenous group as evinced by distinct regional differences. SIDS is mainly a problem in the Mid-West, suggesting the involvement of environmental factors in that region. Further investigation is needed to examine the current AI perinatal health concerns.

Full-text available at: http://www.springerlink.com/

Daubenspeck JA, Li A, Nattie EE.
*Acoustic plethysmography measures breathing in unrestrained neonatal mice.*
J Appl Physiol. 2007 Oct 25; [Epub ahead of print].

Measurement of breathing volumes in neonatal mice is of growing importance in order to characterize the influence of development and genetic modifications upon respiratory control in order to evaluate hypotheses concerned with human infant deficits that may affect Sudden Infant Death Syndrome (SIDS) for example. Current techniques require undesirable physical constraints or incur possible artifacts specific to very small animals. We have examined the utility of a recently proposed approach using an acoustic resonance procedure that does not require undue physical constraint beyond placement in the acoustic plethysmograph. We show here that this approach can be applied to baby mice five days after birth and that it can be accurately calibrated. In addition, this approach should be useful to study unrestrained neonatal mice under conditions where body temperature approaches environmental temperature and barometric plethysmography cannot be used. Key words: small animal plethysmography, Helmholtz resonator, neonatal mice, respiratory phenotyping.

Full-text available at: http://jap.physiology.org/

Marter A, Agruss JC.
*Pacifiers: an update on use and misuse.*
J Spec Pediatr Nurs. 2007 Oct;12(4):278-85.

PURPOSE. The use of pacifiers is a controversial topic; this article looks at the subject from both a historical and cultural perspective, with a review of current research. CONCLUSIONS. The use of pacifiers in infants older than 1 month is currently recommended by multiple researchers to prevent sudden infant death syndrome, and is associated with other benefits for premature infants. However, pacifier use has also been associated with higher risk of otitis media. PRACTICE IMPLICATIONS. Knowledge of the most recent evidence will enable providers to communicate appropriate guidelines on pacifier use to families.

Full-text available at: http://www.blackwellpublishing.com/

Efe E, Sarvan S, Kukulu K
*Sleep practices and environment and the risk of sudden infant death syndrome in Turkey.*
J Spec Pediatr Nurs 2007 Oct;12(4):253-63.

PURPOSE. The aim of this study is to determine what mothers know about infant sleep practices and the environment. DESIGN AND METHODS. Data were collected with a semistructured questionnaire. The research was conducted with 231 mothers who delivered an infant and who agreed to participate between September and December 2005. RESULTS. It was determined that 70.6% (n = 163) of mothers would use a pillow with their sleeping infants, and 44.2% (n = 102) would cover their infants' faces. When infants were alone in a room, 96.5% of mothers would leave them in the supine position. PRACTICE IMPLICATIONS. Public health interventions should alert women to the increased risk of sudden infant death syndrome associated with identifiable risk factors, and specific intervention campaigns for safe sleeping can be developed for Turkish families.

Full-text available at: http://www.blackwellpublishing.com/

Lillian Hatch M.S.L.S.
Project Librarian
National SIDS/ID Resource Center
8280 Greensboro Drive, Suite 300
McLean, VA 22102
(866) 866-7437 (toll-free) (703) 902-1289 (direct)
(703) 821-2098 (fax)
www.sidscenter.org <blocked::http://www.sidscenter.org/>

This electronic mail (e-mail) message (including any attachments) may contain information that is privileged, confidential, and/or otherwise protected from disclosure to anyone other than its intended recipient(s). Any dissemination or use of this e-mail or its contents (including any attachments) by persons other than the intended recipient(s) is strictly prohibited. If you have received this message in error, please notify us immediately by reply e-mail so that we may correct our internal records. Please then delete the original message (including any attachments) in its entirety. Thank you

---
This listserv is moderated by PROJECT IMPACT, a program of the Association of SIDS and Infant Mortality Programs (ASIP)and the federal Maternal and Child Health Bureau (MCHB) to provide opportunities for MCHB State and local SIDS/ID programs and other partners to share SIDS/ID related information and expertise. Learn more about Project IMPACT at www.sidsprojectimpact.com
To place a message in the listserv's moderation queue to be sent to all subscribers, address your email to:
st-to-st-sids-id-news@mchenet.ichp.ufl.edu

Technical Services provided by the Institute for Child Health Policy's Division of Policy and Program Affairs at the University of Florida http://www.ichp.ufl.edu ~ 1329 SW 16th ST, Rm 5130, Gainesville, FL 32608 ~ 352.265.7220 ~ Fax 352.265.7221
---

(Back to the Top)