NSIDRC Journal Article Alert — March 27, 2009
Prepared by the National Sudden and Unexpected Infant/Child Death and Pregnancy Loss Resource Center at Georgetown University.
Past issues of Resource Center journal alerts are
available at http://www.sidscenter.org.
Availability of full-text journal articles is often limited to
subscribers or through inter-library loan. Please see
your local library for copies of these articles, or view PubMed's
How
to Get the Journal Article for
more details.
Sudden Infant Death
1. Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M
Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome
FEBS Lett. 2009 Mar 4;583(5):890-6. Epub 2009 Feb 10
Le Centre de Recherche Université Laval Robert-Giffard, Québec City, QC, Canada.
Various entities and genetic etiologies, including inherited long QT syndrome type 3 (LQT3), contribute to sudden infant death syndrome (SIDS). The goal of our research was to biophysically characterize a new SCN5A mutation (S1333Y) in a SIDS infant. S1333Y channels showed the gain of Na(+) channel function characteristic of LQT3, including a persistent inward Na(+) current and an enhanced window current that was generated by a -8 mV shift in activation and a +7 mV shift in inactivation. The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.
2. Hashimoto Y, Furumiya J
Otitis media observed in unexpected natural death of infants
Leg Med (Tokyo). 2009 Mar 17. [Epub ahead of print]
Department of Legal Medicine, Kochi Medical School, Kochi University, Kohasu, Oko-cho, Nankoku City, Kochi 783-8505, Japan.
Intracranial complications due to otitis media such as brain abscess and leptomeningitis are well known as a cause of death. In recent years, encountering those serious intracranial complications in forensic medical practice is extremely rare. However, we rarely encounter autopsy cases with otitis media of which pathological damage is mild or moderate. We investigated 11 autopsy cases (6 cases of pneumonia and 5 cases of SIDS) in unexpected natural death of infants under one year old, and found 3 cases with otitis media. The tympanic cavity was investigated by chiseling a petrosal part of the base of the skull. In the case of otitis media, serous and mucous exudate containing leucocytes examined microscopically was observed. Otitis media, as such, was not a cause of death in our cases presented. Background factors causing otitis media seems to be not only functional insufficiency of the auditory tube but also other delicate constitution, hidden dysfunction or immature function in immune system, which could be easily infected. Of 3 cases of otitis media, cytomegalovirus infection was observed in 2 cases simultaneously. In our department, we have little opportunity to encounter autopsy cases of infant under one year old. If many infant cases could be investigated, many autopsy cases with otitis media might be encountered in unexpected infant deaths.
Miscarriage/Stillbirth/Prenatal Issues
1. Sur SD, Raine-Fenning NJ
The management of miscarriage
Best Pract Res Clin Obstet Gynaecol. 2009 Mar 19. [Epub ahead of print]
Nottingham University Research and Treatment Unit in Reproduction (NURTURE), Division of Human Development, School of Clinical Sciences, University of Nottingham, Queen's Medical Centre Campus, Nottingham NG7 2UH, UK.
Women diagnosed with incomplete and delayed miscarriage are faced with three options for their subsequent management: expectant, medical or surgical. Health-care practitioners must empower patients to make educated decisions about their own management by providing them with sufficient information in a readily understandable format. This can be difficult both for the patient and the staff in what is often an understandably, highly emotional situation. Detailed counselling is an essential part of the process as psychological outcomes have been shown to be improved when women feel in control of the decision-making process. In this article, we discuss each of the treatment options in detail, and explore how the type of miscarriage influences their relative success rates. We also consider the comparative risks of bleeding, infection, side effects of drugs, pain scores and quality-of-life scores associated with each method through evidence derived from systematic reviews, meta-analyses and randomised controlled trials.
2. Swingle HM, Colaizy TT, Zimmerman MB, Morriss FH Jr
Abortion and the risk of subsequent preterm birth: a systematic review with meta-analyses
J Reprod Med. 2009 Feb;54(2):95-108
Department of Pediatrics, College of Medicine, University of South Alabama, Mobile, AL 36604-3273, USA. hswingle@usouthal.edu
OBJECTIVE: To conduct a systematic review and meta-analyses of studies that test the association between induced or spontaneous abortion and subsequent preterm birth. STUDY DESIGN: International databases were reviewed (1995-2007) using the terms preterm, premature, birth, labor, delivery, abortion, induced abortion, miscarriage and spontaneous abortion. Only studies that met prespecified objective criteria for methodologic design and reporting were included in the meta-analyses. RESULTS: Twelve induced and 9 spontaneous abortion studies met inclusion criteria. Common adjusted odds ratios (ORs) for preterm birth following 1 and > or = 2 induced abortions were 1.25 (95% confidence interval [95% CI] 1.03-1.48) and 1.51 (95% CI 1.21-1.75), respectively. Four studies provided a common adjusted OR for < or = 32 weeks' births of 1.64 (95% CI 1.38-1.91). Meta-regression analysis revealed a previously unrecognized inverse relationship between the In OR and the control population preterm birth rate, explaining in part the observed heterogeneity among studies. Analysis of spontaneous abortion and subsequent preterm birth revealed a similar common adjusted OR and inverse meta-regression on the control preterm birth rates. CONCLUSION: Induced and spontaneous abortion are associated with similarly increased ORs for preterm birth in subsequent pregnancies, and they vary inversely with the baseline preterm birth rate, explaining some of the variability among studies.
3. ACOG practice bulletin No. 102: management of stillbirth
Obstet Gynecol. 2009 Mar;113(3):748-61
4. Kaare M, Bützow R, Ulander VM, Kaaja R, Aittomäki K, Painter JN
Study of p53 gene mutations and placental expression in recurrent miscarriage cases
Reprod Biomed Online. 2009 Mar;18(3):430-5
Folkhälsan Institute of Genetics, University of Helsinki, PO Box 63, 00014 Helsinki, Finland. milja.kaare@helsinki.fi
This study aimed to investigate the role of p53 in early human development by screening patients with recurrent miscarriages (RM) for mutations in the p53 gene and by studying p53 expression in placental tissue. A total of 46 women with RM and 191 control women were included in the study. A sample was also obtained from 40 male partners of RM patients. The samples were screened for p53 sequence variations using denaturing high-performance liquid chromatography, sequencing and allele-specific polymerase chain reaction. Placental tissue was available from 19 miscarriages. p53 expression in placental tissue was studied by immunohistochemical staining. The C11992A polymorphism in p53 was found to be associated with RM in Finnish patients. The C/A or A/A genotype was detected in 32.6% of the women with RM and in 18.9% of the controls (P = 0.0414, odds ratio 2.083, confidence interval 1.018-4.259). The results suggest that women carrying the C/A or A/A genotype have a two-fold higher risk for RM than women with the C/C genotype. Further studies are, however, necessary to define whether the intronic polymorphism has functional consequences. The immunohistochemical staining of placental tissues revealed no abnormal p53 expression patterns in the samples studied.
5. Kaare M, Götz A, Ulander VM, Ariansen S, Kaaja R, Suomalainen A, Aittomäki K
Do mitochondrial mutations cause recurrent miscarriage?
Mol Hum Reprod. 2009 Mar 18. [Epub ahead of print]
Folkhälsan Institute of Genetics, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
The cause of recurrent miscarriage (RM) can be identified in approximately 50% of cases, while in others, unknown genetic factors are actively being sought. As mitochondrial functions, and therefore also the mitochondrial genome (mtDNA), have an important role in human development, through ATP production and participation in apoptosis, we aimed to study the role of mtDNA variations in RM. We screened 48 women with RM and 48 age-matched control women for heteroplasmic mitochondrial mutations using dHPLC, a sensitive method which can detect approximately 5% heteroplasmy. As a result, we detected a heteroplasmic mtDNA variation in 13 RM women (27%) and in 9 control women (19%). Seven synonymous and five non-synonymous changes were detected within coding regions. In addition, seven heteroplasmic variations were detected within the non-coding control region. We were also able to show the presence of the variations in eight placental samples from three heteroplasmic women. In three of these cases, the proportion of variant mtDNA was higher in the placenta compared to that in the mother. We conclude that our sensitive methodology revealed a higher frequency of samples with heteroplasmic variations than expected in both women with RM and controls. However, no apparent increased frequency of heteroplasmic mtDNA variations or amounts of aberrant mtDNA was detected in the RM group. In addition, none of the detected variations were previously known to be pathogenic and therefore they are an unlikely cause of miscarriage.
6. Alijotas-Reig J, Ferrer-Oliveras R, Rodrigo-Anoro MJ, Farran-Codina I, Cabero-Roura L, Vilardell-Tarres M
Anti-beta(2)-glycoprotein-I and anti-phosphatidylserine antibodies in women with spontaneous pregnancy loss
Fertil Steril. 2009 Mar 16. [Epub ahead of print]
Systemic Autoimmune Disease Unit, Department of Internal Medicine I, Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain; Department of Medicine, Autonomous University of Barcelona, Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain.
OBJECTIVE: To evaluate the role of anti-beta(2)-glycoprotein-I (anti-beta(2)GPI-ab) and anti-phosphatidylserine (aPS-ab) antibodies as a risk factor in both recurrent miscarriage (RM) and unexplained fetal losses (UFL). DESIGN: Retrospective, cohort study. SETTING: Vall d'Hebron University Hospital, Barcelona, Spain. PATIENT(S): 122 pregnant women divided in two groups: study group of 54 women with RM and/or UFL and control group of 68 pregnant without RM history. INTERVENTION(S): Analysis of lupus anticoagulant, anticardiolipin antibodies, and anti-beta(2)GP1 and aPS antibodies. MAIN OUTCOME MEASURE(S): Comparison of aPL antibody between groups. RESULT(S): The prevalence of aPL positive results was 8 out of 54 (14.8%) in the study group and 3 out of 68 (4.41%) in the controls. In the RM subgroup, the prevalence was 3 out of 25 (12%) versus 3 out of 68 (4.4%), and 7 out of 34 (20.6%) versus 3 out of 68 (4.4%) in UFL subgroup. As a whole, the prevalence of anti-beta(2)GP1-ab in the RM/UFL group showed a difference compared with controls but not aPS-ab. In the RM women, anti-beta(2)GP1-ab was positive in 3 out of 25 (12%) versus 1 out of 68 (1.5%) in controls and in 4 out of 34 versus 0 out of 68 cases in women with UFL. In the RM subgroup, aPS-ab was positive in 1 out of 25 (4%) versus 2 out of 68 (2.9%) in control group and in 3 out of 34 versus 2 out of 68 cases in women with UFL. CONCLUSION(S): Our results suggest that anti-beta(2)GP1-ab but not aPS-ab is related to RM/UFL and should be considered as a pregnancy-loss risk factor.
Prepared by the
National Sudden and Unexpected Infant/Child Death and Pregnancy
Loss Resource Center
Georgetown University
2115 Wisconsin Avenue, N.W., Suite 601
Washington, DC 20007
(866) 866-7437 toll free
(202) 687-7466 local
(202) 784-9777 fax
info@sidscenter.org
http://www.sidscenter.org
