NSIDRC Journal Article Alert — July 30, 2010
Prepared by the National Sudden and Unexpected Infant/Child Death and Pregnancy Loss Resource Center at Georgetown University.
These articles have been selected from PubMed, a service of the National Library of Medicine that includes over 19 million citations from MEDLINE and other life science journals for biomedical articles back to 1948. PubMed includes links to full text articles and other related resources.
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Sudden Infant Death
1. Bouchireb K, Teychene AM, Rigal O, de Lonlay P, Valayannopoulos
V, Gaudelus J, Sellier N, Bonnefont JP, Brivet M, de Pontual
L
Post-mortem MRI reveals CPT2 deficiency after sudden infant
death
Eur J Pediatr. 2010 Jul 27. [Epub ahead of print]
Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140, Bondy, France.
Inherited metabolic disorders are the cause of a small but significant number of sudden infant deaths in infants. We report on a boy who suddenly died at 10 months of age during an acute illness. Parents declined autopsy; nevertheless, they accepted a whole body MRI, which revealed hepatomegaly with steatosis. Acylcarnitine profile of a blood sample from neonatal Guthrie screening led to the diagnosis of type 2 carnitine palmitoyltransferase deficiency. To conclude, whole body MRI is useful in the investigation of some inherited metabolic causes of sudden infant death, which might prevent future deaths in the family. It is a good alternative when autopsy is refused.
2. Paterson DS, Rivera KD, Broadbelt KG, Trachtenberg FL,
Belliveau RA, Holm IA, Haas EA, Stanley C, Krous HF, Kinney
HC, Markianos K
Lack of Association of the Serotonin Transporter Polymorphism
with the Sudden Infant Death Syndrome in the San Diego Dataset
Pediatr Res. 2010 Jul 23. [Epub ahead of print]
Department of Pathology [D.S.P, K.D.R, K.G.B., R.A.B, H.C.K], Genetics Division and Program in Genomics and The Manton Center for Orphan Disease [I.A.H., K.M.], Children's Hospital Boston and Harvard Medical School, Boston, MA 02115; New England Research Institutes [F.L.T], Watertown, MA 02472; Rady Children's Hospital San Diego and University of California [E.A.H, H.F.K.], San Diego School of Medicine, La Jolla, CA 92123; San Diego County Medical Examiner's Office [C.S.], San Diego, CA 92123.
Dysfunction of medullary serotonin (5-HT)-mediated respiratory and autonomic function is postulated to underlie the pathogenesis of the majority of sudden infant death syndrome (SIDS) cases. Several studies have reported an increased frequency of the LL genotype and L allele of the 5-HT transporter (5-HTT) gene promoter polymorphism (5-HTTLPR), which is associated with increased transcriptional activity and 5-HT transport in vitro, in SIDS cases compared to controls. These findings raise the possibility that this polymorphism contributes to or exacerbates existing medullary 5-HT dysfunction in SIDS. In the current study, we tested the hypothesis that the frequency of LL genotype and L allele are higher in 179 SIDS cases compared to 139 controls of multiple ethnicities in the San Diego SIDS Dataset. We observed no significant association of genotype or allele with SIDS cases either in the total cohort or upon stratification for ethnicity. These observations do not support previous findings that the L allele and/or LL genotype of the 5-HTTLPR are associated with SIDS.
3. Opdal S, Melien O, Hynnekleiv T, Rognum T
The brain-derived neutrophic factor val66met polymorphism and
sudden unexpected infant death
Acta Paediatr. 2010 Jul 24. [Epub ahead of print]
Institute of Forensic Medicine, University of Oslo, Norway.
Abstract Aim: Findings of hypoxia prior to death and involvement of a dysregulation of the serotonergic network in sudden infant death syndrome (SIDS) may indicate that brain-derived neutrophic factor (BDNF) also is of importance with regard to sudden unexpected infant death. Based on this, the purpose of the present study was to investigate the BDNF val66met polymorphism in SIDS cases, cases of infectious death, and controls. Methods: The polymorphism were investigated in 163 SIDS cases, 34 cases of infectious death, and 121 controls, using real time PCR and fluorescence melting curve analysis. Results: There were no differences in val66met genotype distribution between neither the SIDS cases nor the cases of infectious death and controls (p=0.95 and p=0.52, respectively). Conclusion: The study indicates that the val66met polymorphism is not important for sudden unexpected infant death. However, several other SNPs in the BDNF gene, as well as in other genes involved in this pathway, including G-protein, have to be investigated in order to fully exclude any involvement of BDNF in SIDS.
4. du Toit-Prinsloo L, Dempers JJ, Wadee SA, Saayman G
The medico-legal investigation of sudden, unexpected and/or
unexplained infant deaths in South Africa: where are we-and
where are we going?
Forensic Sci Med Pathol. 2010 Jul 22. [Epub ahead of print]
Department of Forensic Medicine, University of Pretoria, P.O. Box 2034, Pretoria, 0001, South Africa, lorraine.dutoit@up.ac.za.
Sudden Infant Death Syndrome (SIDS) has been reported to be
the leading cause of death in infants under 1 year of age in
many countries. Unfortunately, a paucity of published research
data exists in South Africa, with regard to the incidence of
and investigation into the circumstances surrounding Sudden
Unexplained Deaths in Infants (SUDI) and/or SIDS. Currently,
even though most academic centers conform to a protocol consistent
with internationally accepted standards, there exists no nationally
accepted infant death investigation protocol in South Africa.
It is the aim of this study to review the current practice
of infant death investigation in two representative but geographically
and demographically distinct centers. Retrospective case audit
over a five-year period (2000-2004) was conducted at two large
medico-legal mortuaries in Pretoria (Gauteng) and Tygerberg
(Cape Town). Case files on all infants younger than 1 year
of age were reviewed. The outcome measures included number
of deaths, demographic details and the nature and final outcome
of the post mortem examinations. A total of 512 cases were
identified as possible SIDS cases and of these, 171 was classified
as SIDS. The study showed marked inter-case and inter-divisional
variation in terms of the investigation of infant deaths at
the two institutions. It is envisaged that this study will
focus attention on the current lack of usable data regarding
sudden/unexplained/unexpected infant deaths in South Africa,
and aid in the formulation and implementation of a practical
(yet internationally accountable) infant death investigation
protocol, which could facilitate comparisons with other countries
and initiate further structured research in this field.
Miscarriage/Stillbirth/Prenatal Issues
1. Signorello LB, Mulvihill JJ, Green DM, Munro HM, Stovall
M, Weathers RE, Mertens AC, Whitton JA, Robison LL, Boice JD
Jr.
Stillbirth and neonatal death in relation to radiation exposure
before conception: a retrospective cohort study
Lancet. 2010 Jul 22. [Epub ahead of print]
International Epidemiology Institute, Rockville, MD, USA; Division of Epidemiology, Department of Medicine, Vanderbilt University Medical Center and the Vanderbilt-Ingram Cancer Center, Nashville, TN, USA.
BACKGROUND: The reproductive implications of mutagenic treatments given to children with cancer are not clear. By studying the risk of untoward pregnancy outcomes, we indirectly assessed the risk of transmission of germline damage to the offspring of survivors of childhood cancer who were given radiotherapy and chemotherapy. METHODS: We did a retrospective cohort analysis, within the Childhood Cancer Survivor Study (CCSS), of the risk of stillbirth and neonatal death among the offspring of men and women who had survived childhood cancer. Patients in CCSS were younger than 21 years at initial diagnosis of an eligible cancer, were treated at 25 US institutions and one Canadian institution, and had survived for at least 5 years after diagnosis. We quantified the chemotherapy given to patients, and the preconception radiation doses to the testes, ovaries, uterus, and pituitary gland, and related these to the risk of stillbirth or neonatal death using Poisson regression analysis. FINDINGS: Among 1148 men and 1657 women who had survived childhood cancer, there were 4946 pregnancies. Irradiation of the testes (16 [1%] of 1270; adjusted relative risk 0.8 [95% CI 0.4-1.6]; mean dose 0.53 Gy [SD 1.40]) and pituitary gland (17 [3%] of 510, 1.1 [0.5-2.4] for more than 20.00 Gy; mean dose 10.20 Gy [13.0] for women), and chemotherapy with alkylating drugs (26 [2%] of 1195 women, 0.9 [0.5-1.5]; ten [1%] of 732 men, 1.2 [0.5-2.5]) were not associated with an increased risk of stillbirth or neonatal death. Uterine and ovarian irradiation significantly increased risk of stillbirth and neonatal death at doses greater than 10.00 Gy (five [18%] of 28, 9.1 [3.4-24.6]). For girls treated before menarche, irradiation of the uterus and ovaries at doses as low as 1.00-2.49 Gy significantly increased the risk of stillbirth or neonatal death (three [4%] of 69, 4.7 [1.2-19.0]). INTERPRETATION: Our findings do not support concern about heritable genetic changes affecting the risk of stillbirth and neonatal death in the offspring of men exposed to gonadal irradiation. However, uterine and ovarian irradiation had serious adverse effects on the offspring that were probably related to uterine damage. Careful management is warranted of pregnancies in women given high doses of pelvic irradiation before puberty. FUNDING: Westlakes Research Institute, National Cancer Institute, and Children's Cancer Research Fund. Copyright © 2010 Elsevier Ltd. All rights reserved.
2. Carp HJ
Recurrent miscarriage and hCG supplementation: a review and
metaanalysis
Gynecol Endocrinol. 2010 Jul 23. [Epub ahead of print]
Department of Obstetrics and Gynaecology, Sheba Medical Center, Tel Hashomer, Israel
Human chorionic gonadotropin (hCG) has been used to prevent subsequent miscarriages after previous recurrent miscarriages. In addition to the luteotrophic effects, hCG has uterine immune and autocrine actions. hCG also affects cytokine expression. A Cochrane database systematic review has indicated that hCG seems to prevent further miscarriages, (OR for miscarriage = 0.26, 95% CI 0.14-0.52). However, the trials in the Cochrane database were not matched for the number of miscarriages, 1 degrees , 2 degrees or 3 degrees aborter status, maternal age, etc. and no account was made for chromosomally abnormal pregnancies. All of these impact on the subsequent prognosis and may confound the results. The previous trials in the literature all assessed urinary (u-hCG) rather than recombinant hCG (r-hCG), raising the question whether the effect on pregnancy outcome is due to hCG itself, or other urinary proteins present in u-hCG. A new trial is indicated in which r-hCG is compared to u-hCG and the most effective compared to placebo. Treatment and placebos arms should be stratified for the prognostic factors above and the results corrected for fetal chromosomal aberrations. Until such a trial is carried out, the use of hCG supplementation is empiric.
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