Literature DB >> 30430032

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.

Laura Jane Heathfield1,2, Lorna Jean Martin1, Raj Ramesar2.   

Abstract

Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.

Entities:  

Keywords:  medico-legal investigation; negative autopsy; sudden infant death syndrome

Year:  2018        PMID: 30430032      PMCID: PMC6234044          DOI: 10.1055/s-0038-1668079

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  46 in total

1.  Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.

Authors:  M el-Schahawi; C Bruno; S Tsujino; A M Sarrazin; S Shanske; M G LeRoux; S DiMauro
Journal:  Neuromuscul Disord       Date:  1997-03       Impact factor: 4.296

2.  Investigation of 5-HTT expression using quantitative real-time PCR in the human brain in SIDS Italian cases.

Authors:  Valentina Casale; Roberta Oneda; Luigi Matturri; Anna Maria Lavezzi
Journal:  Exp Mol Pathol       Date:  2012-07-04       Impact factor: 3.362

3.  Molecular autopsy for sudden unexplained death? Time to discuss pros and cons.

Authors:  Andrea Mazzanti; Silvia G Priori
Journal:  J Cardiovasc Electrophysiol       Date:  2012-09-11

Review 4.  Sudden Infant Death: QT or Not QT? That Is No Longer the Question.

Authors:  Andrew M Davis; Joanna Glengarry; Jonathan R Skinner
Journal:  Circ Arrhythm Electrophysiol       Date:  2016-06

5.  PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Authors:  Germaine Liebrechts-Akkerman; Fan Liu; Oscar Lao; Ariadne H A G Ooms; Kate van Duijn; Mark Vermeulen; Vincent W Jaddoe; Albert Hofman; Adèle C Engelberts; Manfred Kayser
Journal:  Int J Legal Med       Date:  2014-01-18       Impact factor: 2.686

Review 6.  State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young.

Authors:  Michael J Ackerman
Journal:  Pacing Clin Electrophysiol       Date:  2009-07       Impact factor: 1.976

7.  Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Authors:  D Nicole R Methner; Steven E Scherer; Katherine Welch; Magdalena Walkiewicz; Christine M Eng; John W Belmont; Mark C Powell; Viktoriya Korchina; Harsha Vardhan Doddapaneni; Donna M Muzny; Richard A Gibbs; Dwayne A Wolf; Luis A Sanchez; Roger Kahn
Journal:  Genome Res       Date:  2016-07-19       Impact factor: 9.043

8.  Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Authors:  Manuel Rueda; Jennifer L Wagner; Tierney C Phillips; Sarah E Topol; Evan D Muse; Jonathan R Lucas; Glenn N Wagner; Eric J Topol; Ali Torkamani
Journal:  Front Cardiovasc Med       Date:  2017-11-09

9.  Long QT molecular autopsy in sudden infant death syndrome.

Authors:  Joanna Moira Glengarry; Jackie Crawford; Paul Lowell Morrow; Simon Robert Stables; Donald Roy Love; Jonathan Robert Skinner
Journal:  Arch Dis Child       Date:  2014-03-04       Impact factor: 3.791

10.  Research capacity. Enabling the genomic revolution in Africa.

Authors:  Charles Rotimi; Akin Abayomi; Alash'le Abimiku; Victoria May Adabayeri; Clement Adebamowo; Ezekiel Adebiyi; Adebowale D Ademola; Adebowale Adeyemo; Dwomoa Adu; Dissou Affolabi; Godfred Agongo; Samuel Ajayi; Sally Akarolo-Anthony; Rufus Akinyemi; Albert Akpalu; Marianne Alberts; Orlando Alonso Betancourt; Ahmed Mansour Alzohairy; Gobena Ameni; Olukemi Amodu; Gabriel Anabwani; Kristian Andersen; Fatiu Arogundade; Oyedunni Arulogun; Danny Asogun; Rasheed Bakare; Naby Balde; Mary Lynn Baniecki; Christine Beiswanger; Alia Benkahla; Lara Bethke; Micheal Boehnke; Vincent Boima; James Brandful; Andrew I Brooks; Frank C Brosius; Chester Brown; Bruno Bucheton; David T Burke; Barrington G Burnett; Stacy Carrington-Lawrence; Nadia Carstens; John Chisi; Alan Christoffels; Richard Cooper; Heather Cordell; Nigel Crowther; Talishiea Croxton; Jantina de Vries; Leslie Derr; Peter Donkor; Seydou Doumbia; Audrey Duncanson; Ivy Ekem; Ahmed El Sayed; Mark E Engel; John C K Enyaru; Dean Everett; Faisal M Fadlelmola; Eyitayo Fakunle; Kenneth H Fischbeck; Anne Fischer; Onikepe Folarin; Junaid Gamieldien; Robert F Garry; Simani Gaseitsiwe; Rasheed Gbadegesin; Anita Ghansah; Maria Giovanni; Parham Goesbeck; F Xavier Gomez-Olive; Donald S Grant; Ravnit Grewal; Mark Guyer; Neil A Hanchard; Christian T Happi; Scott Hazelhurst; Branwen J Hennig; Christiane Hertz-; Winston Hide; Friedhelm Hilderbrandt; Christopher Hugo-Hamman; Muntaser E Ibrahim; Regina James; Yasmina Jaufeerally-Fakim; Carolyn Jenkins; Ute Jentsch; Pan-Pan Jiang; Moses Joloba; Victor Jongeneel; Fourie Joubert; Mukthar Kader; Kathleen Kahn; Pontiano Kaleebu; Saidi H Kapiga; Samar Kamal Kassim; Ishmael Kasvosve; Jonathan Kayondo; Bernard Keavney; Adeodata Kekitiinwa; Sheik Humarr Khan; Paul Kimmel; Mary-Claire King; Robert Kleta; Mathurin Koffi; Jeffrey Kopp; Matthias Kretzler; Judit Kumuthini; Samuel Kyobe; Catherine Kyobutungi; Daniel T Lackland; Karen A Lacourciere; Guida Landouré; Rita Lawlor; Thomas Lehner; Maia Lesosky; Naomi Levitt; Katherine Littler; Zane Lombard; Jeanne F Loring; Sylvester Lyantagaye; Annette Macleod; Ebony B Madden; Chengetai R Mahomva; Julie Makani; Manmak Mamven; Marape Marape; Graeme Mardon; Patricia Marshall; Darren P Martin; Daniel Masiga; Robin Mason; Michael Mate-Kole; Enock Matovu; Mary Mayige; Bongani M Mayosi; Jean Claude Mbanya; Sheryl A McCurdy; Mark I McCarthy; Helen McIlleron; S O Mc'Ligeyo; Corrine Merle; Ana Olga Mocumbi; Charles Mondo; John V Moran; Ayesha Motala; Marva Moxey-Mims; Wata Sununguko Mpoloka; Chisomo L Msefula; Thuli Mthiyane; Nicola Mulder; Gebregziab her Mulugeta; Dieuodonne Mumba; John Musuku; Mo Nagdee; Oyekanmi Nash; Daouda Ndiaye; Anh Quynh Nguyen; Mark Nicol; Oathokwa Nkomazana; Shane Norris; Betty Nsangi; Alexander Nyarko; Moffat Nyirenda; Eileen Obe; Reginald Obiakor; Abraham Oduro; Solomon F Ofori-Acquah; Okechukwu Ogah; Stephen Ogendo; Kwaku Ohene-Frempong; Akinlolu Ojo; Timothy Olanrewaju; John Oli; Charlotte Osafo; Odile Ouwe Missi Oukem-Boyer; Bruce Ovbiagele; Andrew Owen; Mayowa Ojo Owolabi; Lukman Owolabi; Ellis Owusu-Dabo; Guillaume Pare; Rulan Parekh; Hugh G Patterton; Margaret B Penno; Jane Peterson; Rembert Pieper; Jacob Plange-Rhule; Martin Pollak; Julia Puzak; Rajkumar S Ramesar; Michele Ramsay; Rebekah Rasooly; Shiksha Reddy; Pardis C Sabeti; Kwamena Sagoe; Tunde Salako; Oumar Samassékou; Manjinder S Sandhu; Osman Sankoh; Fred Stephen Sarfo; Marie Sarr; Gasnat Shaboodien; Issa Sidibe; Gustave Simo; Martin Simuunza; Liam Smeeth; Eugene Sobngwi; Himla Soodyall; Hermann Sorgho; Oumou Sow Bah; Sudha Srinivasan; Dan J Stein; Ezra S Susser; Carmen Swanepoel; Godfred Tangwa; Andrew Tareila; Ozlem Tastan Bishop; Bamidele Tayo; Nicki Tiffin; Halidou Tinto; Ekaete Tobin; Stephen Meir Tollman; Mahamadou Traoré; Marsha J Treadwell; Jennifer Troyer; Masego Tsimako-Johnstone; Vincent Tukei; Ifeoma Ulasi; Nzovu Ulenga; Beverley van Rooyen; Ablo Prudence Wachinou; Salina P Waddy; Alisha Wade; Misaki Wayengera; James Whitworth; Louise Wideroff; Cheryl A Winkler; Sarah Winnicki; Ambroise Wonkam; Mengistu Yewondwos; Tadase sen; Nathan Yozwiak; Heather Zar
Journal:  Science       Date:  2014-06-20       Impact factor: 47.728

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  3 in total

1.  Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting.

Authors:  Barbara S van Deventer; Lorraine du Toit-Prinsloo; Chantal van Niekerk
Journal:  Afr J Lab Med       Date:  2022-06-23

2.  Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.

Authors:  Laura Jane Heathfield; Hugh Watkins; Lorna Jean Martin; Raj Ramesar
Journal:  J Pediatr Genet       Date:  2021-04-14

Review 3.  Forensic NMR metabolomics: one more arrow in the quiver.

Authors:  Emanuela Locci; Giovanni Bazzano; Alberto Chighine; Francesco Locco; Ernesto Ferraro; Roberto Demontis; Ernesto d'Aloja
Journal:  Metabolomics       Date:  2020-11-07       Impact factor: 4.290

  3 in total

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