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Neonatal genomics

Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
Susan Givens Bell
Using rapid whole-genome sequencing (WGS), an infant's genome can now be sequenced in as little as 26 hours allowing for rapid diagnosis and precise, individualized management of monogenetic causes of disease. The potential for decreasing cost and valuable time to diagnosis along with pain and suffering is becoming a reality in the NICU. Coupled with rapidly developing technology is a need to explore the associated ethical implication.
January 1, 2018: Neonatal Network: NN
Jie Wang, Xiaowen Gong, Geng G Tian, Changliang Hou, Xiaoqin Zhu, Xiuying Pei, Yanrong Wang, Ji Wu
Female germline stem cells (FGSCs) are proposed to be a key factor for ameliorating female infertility. Previously we have shown that neonatal and adult FGSCs could be isolated and purified from mouse ovarian tissues. The long noncoding (lnc) RNA growth arrest-specific 5 sequence (GAS5) transcribed from mammalian genomes plays important regulatory roles in various developmental processes. However, there is no study on the relationship between GAS5 and FGSC development in vitro. In this study, we showed that GAS5 was highly expressed in the neonatal mouse ovary and was located in both FGSCs and oocytes...
February 8, 2018: Gene
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
Friederike Ehrhart, Kelly J M Janssen, Susan L Coort, Chris T Evelo, Leopold M G Curfs
OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism...
February 9, 2018: World Journal of Biological Psychiatry
N A Bryant, G S Wilkie, C A Russell, L Compston, D Grafham, L Clissold, K McLay, L Medcalf, R Newton, A J Davison, D M Elton
Equine herpesvirus 1 (EHV-1) causes respiratory disease, abortion, neonatal death and neurological disease in equines and is endemic in most countries. The viral factors that influence EHV-1 disease severity are poorly understood, and this has hampered vaccine development. However, the N752D substitution in the viral DNA polymerase catalytic subunit has been shown statistically to be associated with neurological disease. This has given rise to the term "neuropathic strain," even though strains lacking the polymorphism have been recovered from cases of neurological disease...
February 9, 2018: Transboundary and Emerging Diseases
Nivedita Hariharan, Samathmika Ravi, Bulagonda Eswarappa Pradeep, Koushik Narayan Subramanyam, Bibha Choudhary, Subhashini Srinivasan, Prakash Khanchandani
A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India...
2018: Human Genome Variation
F Y Zhang, N Yang, Y F Rao, W H Du, H S Hao, X M Zhao, H B Zhu, Y Liu
Neonatal respiratory distress is a major mortality factor in cloned animals; however, the pathogenesis of this disease has rarely been investigated. Previous studies have shown that miRNAs regulate critical genes related to lung development, cell differentiation, surfactant synthesis, secretion and lung disease. This study aimed to examine differentially expressed miRNAs in collapsed lungs of cloned bovine neonates and normal lungs in order to identify key pathways and functions that might be related to the pathogenesis of neonatal respiratory distress...
February 8, 2018: Reproduction in Domestic Animals, Zuchthygiene
Brian S Carter
The application of palliative and hospice care to newborns in the neonatal intensive care unit (NICU) has been evident for over 30 years. This article addresses the history, current considerations, and anticipated future needs for palliative and hospice care in the NICU, and is based on recent literature review. Neonatologists have long managed the entirety of many newborns' short lives, given the relatively high mortality rates associated with prematurity and birth defects, but their ability or willingness to comprehensively address of the continuum of interdisciplinary palliative, end of life, and bereavement care has varied widely...
February 7, 2018: Children
Junbo Luan, Xuepeng Sun, Zhangjun Fei, Angela E Douglas
Bacteriocytes are insect cells harboring symbiotic bacteria that are required by their insect host and are transmitted vertically via the female ovary [1]. In most insect groups, the bacteria are released from the bacteriocytes and transferred to the ovary [2, 3], but in whiteflies, maternal bacteriocytes migrate to each egg [4-6], where they have been reported to lyse, releasing the symbionts [1]. To investigate bacteriocyte inheritance in whiteflies further, we applied microsatellite genotyping and genomic analysis to a genetically diverse population of Bemisia tabaci, and we observed the fate of the bacteriocyte in embryos...
January 12, 2018: Current Biology: CB
Sukantha Chandrasekaran, Carey-Ann D Burnham, Barbara B Warner, Phillip I Tarr, Todd N Wylie
Background: Cronobacter sakazakii causes severe neonatal infections, but we know little about gut carriage of this pathogen in very low birthweight infants. Methods: We sequenced 16S rRNA genes from 2,304 stools from 121 children at St. Louis Children's Hospital whose birthweight was ≤1,500 grams, attempted to isolate C. sakazakii from 157 of these stools, genome sequenced the recovered isolates, and sought correlations between indices of Cronobacter excretion, host characteristics and unit formula use...
January 31, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Willem M R van den Akker, Iris Brummelman, Lavinia M Martis, Renée N Timmermans, Rolph Pfundt, Tjitske Kleefstra, Marjolein H Willemsen, Erica H Gerkes, Johanna C Herkert, Anthonie J van Essen, Patrick Rump, Fleur Vansenne, Paulien A Terhal, Mieke M van Haelst, Ingrid Cristian, Clesson E Turner, Megan T Cho, Amber Begtrup, Rebecca Willaert, Emily Fassi, Koen L I van Gassen, Alexander P A Stegmann, Bert B A de Vries, Janneke H M Schuurs-Hoeijmakers
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of fifteen individuals and report novel de novo missense variants within the kinase domain of CDK13. Furthermore, we describe two nonsense variants and a recurrent frame-shift variant. We demonstrate the synthesis of two aberrant CDK13 transcripts in lymphoblastoid cells from an individual with a splice-site variant...
February 2, 2018: Clinical Genetics
Yan Qi, Xinxin Chen, Na Wu, Chuihui Ma, Xueling Cui, Zhonghui Liu
Sepsis is a common cause of mortality due to systemic infection. Although numerous studies have investigated this life-threatening condition, there remains a lack of suitable markers to evaluate the severity of sepsis. The present study focused on the identification of risk factors for sepsis‑associated mortality by genome‑wide expression profiling. Initially, the GEO2R web tool was used to identify the differentially expressed genes (DEGs) between sepsis survivors and nonsurvivors. It was identified that the upregulated DEGs in the nonsurvivors compared with survivors were highly enriched in the type I interferon (IFN‑I) signaling pathway...
January 25, 2018: Molecular Medicine Reports
Mingcheng Cai, Hongbing He, Xianbo Jia, Shiyi Chen, Jie Wang, Yu Shi, Buwei Liu, Wudian Xiao, Songjia Lai
Bovine milk is rich in exosomes, which contain abundant miRNAs and play important roles in the regulation of neonatal growth and development of adaptive immunity. Here, we analyzed miRNA expression profiles of bovine milk exosomes from three healthy and three mastitic cows, and then six miRNA libraries were constructed. Interestingly, we detected no scRNAs and few snRNAs in milk exosomes; this result indicated a potential preference for RNA packaging in milk exosomes. A total of 492 known and 980 novel exosomal miRNAs were detected, and the 10 most expressed miRNAs in the six samples accounted for 80-90% of total miRNA-associated reads...
January 30, 2018: Cell Stress & Chaperones
Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D Kilby, Malgorzata Krajewska-Walasek, Christian P Kratz, Edmund J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J G Mackay, Andrea Riccio, Eamonn R Maher
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care...
January 29, 2018: Nature Reviews. Endocrinology
Walter Zingg, Isabelle Soulake, Damien Baud, Benedikt Huttner, Riccardo Pfister, Gesuele Renzi, Didier Pittet, Jacques Schrenzel, Patrice Francois
[This corrects the article DOI: 10.1186/s13756-017-0285-x.].
2018: Antimicrobial Resistance and Infection Control
Nguyen Duc Toan, Thomas C Darton, Christine J Boinett, James I Campbell, Abhilasha Karkey, Evelyne Kestelyn, Le Quoc Thinh, Nguyen Kien Mau, Pham Thi Thanh Tam, Le Nguyen Thanh Nhan, Ngo Ngoc Quang Minh, Cam Ngoc Phuong, Nguyen Thanh Hung, Ngo Minh Xuan, Tang Chi Thuong, Stephen Baker
INTRODUCTION: The clinical syndrome of neonatal sepsis, comprising signs of infection, septic shock and organ dysfunction in infants ≤4 weeks of age, is a frequent sequel to bloodstream infection and mandates urgent antimicrobial therapy. Bacterial characterisation and antimicrobial susceptibility testing is vital for ensuring appropriate therapy, as high rates of antimicrobial resistance (AMR), especially in low-income and middle-income countries, may adversely affect outcome. Ho Chi Minh City (HCMC) in Vietnam is a rapidly expanding city in Southeast Asia with a current population of almost 8 million...
January 24, 2018: BMJ Open
Marta Corbella, Mariasofia Caltagirone, Stefano Gaiarsa, Bianca Mariani, Davide Sassera, Ibrahim Bitar, Alba Muzzi, Roberta Migliavacca, Luigia Scudeller, Mauro Stronati, Patrizia Cambieri
Here we report an outbreak of extended spectrum β-lactamase-producing Klebsiella pneumoniae that occurred in a neonatal intensive care unit in Northern Italy and involved 97 patients. Progressively tightened sets of containment measures were implemented but the epidemic event was stopped only 9 months later. The final, effective, containment strategy consisted of the application of strict geographic cohorting of colonized infants and their nursing staff, the suspension of any new admission and a rigorous daily sterilization protocol for all surfaces and fomites in the ward...
January 25, 2018: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
Natalie S Hauser, Benjamin D Solomon, Thierry Vilboux, Alina Khromykh, Rajiv Baveja, Dale L Bodian
BACKGROUND: Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting. METHODS AND RESULTS: In this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests...
January 25, 2018: Molecular Genetics & Genomic Medicine
Xiaoyu Pan, Desheng Gong, Duc Ninh Nguyen, Xinxin Zhang, Qi Hu, Hanlin Lu, Merete Fredholm, Per T Sangild, Fei Gao
Epigenetic regulation may play an important role in mediating microbe-host interactions and adaptation of intestinal gene expression to bacterial colonization just after birth. This is particularly important after preterm birth because the immature intestine is hypersensitive to invading bacteria. We compared the intestinal DNA methylome and microbiome between conventional (CON) and antibiotics-treated (AB) preterm pigs, used as a model for preterm infants. Oral AB treatment reduced bacterial density (∼100-fold), diversity and fermentation, improved the resistance to necrotizing enterocolitis (NEC) and changed the genome-wide DNA methylation in the distal small intestine...
January 19, 2018: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
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