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https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#1
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805620/ex-utero-intrapartum-treatment-for-extremely-low-birth-weight-neonates-requiring-resuscitation-at-birth
#2
Tai-Ho Hung, Ting-Xuan Huang, T'sang-T'ang Hsieh
OBJECTIVE: Difficulties often encountered during intubation in extremely low birth-weight (ELBW) neonates requiring resuscitation at birth because of the smaller airway and the pressure from the limited number of attempts before hemodynamic instability occurs. CASE REPORT: We evaluated two pregnant women at 26 weeks of gestation with premature rupture of membranes and evidence of chorioamnionitis and applied the concept of ex utero intrapartum treatment, which involved delaying cord clamping (DCC) after establishing a secured airway with adequate ventilation during cesarean delivery...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28804562/premature-exhaustion-of-mesenchymal-stromal-cells-from-myelodysplastic-syndrome-patients
#3
Yanbin Pang, Chengxin Deng, Suxia Geng, Jianyu Weng, Peilong Lai, Pengjun Liao, Lingji Zeng, Zesheng Lu, Jing Zhang, Xin Du
Myelodysplastic syndrome (MDS) predominantly occurs in aging people. Over the past decades, the cellular and molecular pathologies of MDS cells have been intensively investigated. However, how the bone marrow stromal niches are altered during MDS development remains elusive. In this study, we attempted to isolate and characterize mesenchymal stromal cells (MSCs) from 30 MDS patients. We observed that only 9/30 bone marrow aspirations from MDS patients successfully formed a monolayer in vitro, while 17/17 bone marrow aspirations from normal donors (median age 45 years, range: 22-73 years) succeeded in this process...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28800162/feeding-imprinting-the-extreme-test-case-of-premature-infants-born-with-very-low-birth-weight
#4
Moriya Suberi, Iris Morag, Tzipora Strauss, Ronny Geva
Feeding imprinting, considered a survival-enabling process, is not well understood. Infants born very preterm, who first feed passively, are an effective model for studying feeding imprinting. Retrospective analysis of neonatal intensive care unit (NICU) records of 255 infants (Mgestational age  = 29.98 ± 1.64) enabled exploring the notion that direct breastfeeding (DBF) during NICU stay leads to consumption of more mother's milk and earlier NICU discharge. Results showed that DBF before the first bottle feeding is related to shorter transition into oral feeding, a younger age of full oral feeding accomplishment and earlier discharge...
August 11, 2017: Child Development
https://www.readbyqxmd.com/read/28774356/prevention-of-bronchopulmonary-dysplasia-current-strategies
#5
Deepak Jain, Eduardo Bancalari
Bronchopulmonary dysplasia (BPD) is one of the few diseases affecting premature infants that have continued to evolve since its first description about half a century ago. The current form of BPD, a more benign and protracted respiratory failure in extremely preterm infants, is in contrast to the original presentation of severe respiratory failure with high mortality in larger premature infants. This new BPD is end result of complex interplay of various antenatal and postnatal factors causing lung injury and subsequent abnormal repair leading to altered alveolar and vascular development...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28770130/an-extremely-premature-neonate-with-severe-anemia
#6
Swosti Joshi, Ivy Mulinge, Medha Kamat
Spleen rupture in an extremely premature newborn is very rare event. High index of suspicion is required to make timely diagnosis and thereafter appropriate management. We present a rare case of an extremely premature, extremely low birthweight newborn who presented with severe anemia secondary to splenic rupture. It was managed conservatively without splenectomy resulting in complete resolution of symptoms. Although non-operative management of pediatric splenic injuries is now recognized as the treatment of choice, there is very little experience in premature newborns...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28768499/simultaneous-primary-invasive-cutaneous-aspergillosis-in-two-preterm-twins-case-report-and-review-of-the-literature
#7
Floriane Gallais, Julie Denis, Olfa Koobar, Laurence Dillenseger, Dominique Astruc, Raoul Herbrecht, Ermanno Candolfi, Valérie Letscher-Bru, Marcela Sabou
BACKGROUND: Primary invasive cutaneous aspergillosis is a rare fungal infection that occurs mostly in immunocompromised patients. Newborns of very low birth weight present a high risk for this type of infection due to an immaturity of the cutaneous barrier and of the immune system. CASE PRESENTATION: We describe here a case of simultaneous invasive cutaneous aspergillosis in two preterm twins. Two male preterm bichorionic biamniotic twins (A & B) were born at a general hospital by spontaneous normal delivery at 24 weeks and 6 days of gestation...
August 2, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28768269/a-potential-role-for-the-nod1-variant-rs6958571-in-gram-positive-blood-stream-infection-in-elbw-infants
#8
Venkatesh Sampath, Neil Mulrooney, Aloka L Patel, Jonathan Cohen, Liyun Zhang, Jeffery Garland, Pascal M Lavoie, John Dagle, Pippa Simpson
BACKGROUND: The genetic basis of sepsis susceptibility in preterm infants remains understudied. Herein, we investigated the nucleotide binding-oligomerization domain (NOD)-like receptor (NLR) family of immune receptors as putative loci for preterm sepsis susceptibility. OBJECTIVE: To determine whether single nucleotide polymorphisms (SNPs) in NLR genes are associated with blood stream infections (BSI) in premature infants. METHODS: An international cohort of infants with gestational age (GA) <35 weeks were genotyped for SNPs in the ATG16L1, CARD8, NLRP3, NOD2, and NOD1 genes...
August 3, 2017: Neonatology
https://www.readbyqxmd.com/read/28768139/extreme-prematurity-creating-iatrogenic-lives
#9
Kristina Orfali
No abstract text is available yet for this article.
August 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28767026/-the-gestational-age-label
#10
A A E Verhagen
Recent follow-up data on babies born at > 24 weeks' gestation in the Netherlands has shown encouraging results; these outcomes reflect policy in national guidelines to limit treatment in babies born at < 24 weeks' gestation. The use of gestational age as a cut-off point for active treatment in extremely premature infants is, however, scientifically and ethically questionable. As an alternative we should consider a tailor-made approach by well-informed, ethically trained doctors who feel comfortable with complex decision-making, irrespective of the gestational age label...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28761416/neurological-consequences-of-systemic-inflammation-in-the-premature-neonate
#11
REVIEW
Aparna Patra, Hong Huang, John A Bauer, Peter J Giannone
Despite substantial progress in neonatal care over the past two decades leading to improved survival of extremely premature infants, extreme prematurity continues to be associated with long term neurodevelopmental impairments. Cerebral white matter injury is the predominant form of insult in preterm brain leading to adverse neurological consequences. Such brain injury pattern and unfavorable neurologic sequelae is commonly encountered in premature infants exposed to systemic inflammatory states such as clinical or culture proven sepsis with or without evidence of meningitis, prolonged mechanical ventilation, bronchopulmonary dysplasia, necrotizing enterocolitis and chorioamnionitis...
June 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28752669/behaviour-of-4-to-5-year-old-nondisabled-elbw-children-outcomes-following-group-based-physiotherapy-intervention
#12
L Brown, Y R Burns, P Watter, P H Gray, K S Gibbons
BACKGROUND: Extreme prematurity or extremely low birth weight (ELBW) can adversely affect behaviour. Nondisabled ELBW children are at risk of behavioural problems, which may become a particular concern after commencement of formal education. This study explored the frequency of behavioural and emotional problems amongst nondisabled ELBW children at 4 to 5 years of age and whether intervention had a positive influence on behaviour. The relationship between behaviour, gender, and other areas of performance at 5 years was explored...
July 28, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28750943/effect-of-preterm-birth-on-echogenicity-in-basal-ganglia
#13
Robbin de Goederen, Marlou M A Raets, Ginette M Ecury-Goossen, Rogier C J de Jonge, Luca A Ramenghi, Irene V Koning, Paul Govaert, Jeroen Dudink
In this study, the influence of prematurity on echogenicity of deep gray matter at 30-wk corrected age was assessed using ultrasound measurements. In an observational cohort study, ultrasound scans of 224 extremely preterm infants were prospectively collected. Gray values were assessed in putamen and globus pallidus. Intra- and inter-observer reliability was analyzed and showed excellent agreement. The globus pallidus to putamen ratio was significantly related to gestational age at birth, adjusted regression coefficient in points per wk: 1...
July 24, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28750269/a-comparative-analysis-of-ante-and-postnatal-clinical-characteristics-of-extremely-premature-neonates-suffering-from-refractory-and-non-refractory-hypotension-is-early-clinical-differentiation-possible
#14
Rita P Verma, Shaeequa Dasnadi, Yuan Zhao, Hegang H Chen
BACKGROUND: About 25% of hypotensive ELBW infants are refractory to intravascular volume expansion and inotropic drugs (VI) and require hydrocortisone (HC). Such neonates suffer from complications of prolonged hypotension and extended therapy with VI. ELBW infants with refractory hypotension (RH) are clinically and biochemically indistinguishable from those who respond to VI. OBJECTIVE: Early identification and differentiation of ELBW infants susceptible to steroid dependent hypotension from those who respond to inotropic medications...
July 24, 2017: Early Human Development
https://www.readbyqxmd.com/read/28750142/feline-leukocyte-adhesion-cd18-deficiency-caused-by-a-deletion-in-the-integrin-%C3%AE-2-itgb2-gene
#15
Thomas R Bauer, Suzanne M Pratt, Christina M Palena, Karthik Raj, Urs Giger
BACKGROUND: Leukocyte adhesion deficiency (LAD) or CD18 deficiency is an autosomal recessive immunodeficiency which has been described in people, cattle, dogs, and knockout mice. OBJECTIVES: The study goals were to characterize the clinicopathologic, immunologic, and molecular genetic features of feline LAD (FLAD) in a neutered male adult Domestic Longhair cat with severe leukocytosis and recurrent infections. METHODS: Flow cytometry evaluated surface expression of CD18 on neutrophils...
July 27, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28748840/cardiovascular-involvement-in-severe-malaria-a-prospective-study-in-ranchi-jharkhand
#16
Hemant Narayan Ray, Darshit Doshi, Appu Rajan, Amit K Singh, S B Singh, M K Das
BACKGROUND & OBJECTIVES: Malaria is considered as the most important parasitic disease of humans, causing seri- ous illness that can be fatal, if not diagnosed and treated immediately. It is a multisystem disorder affecting nearly every system of the body. The aim of the present study was to evaluate the involvement of cardiovascular system in severe malaria using non-invasive methods. METHODS: This prospective study was conducted on patients of severe malaria who were admitted between June and November 2015 in the Department of Medicine, Rajendra Institute of Medical Sciences and Hospital, Ranchi, Jharkhand, India...
April 2017: Journal of Vector Borne Diseases
https://www.readbyqxmd.com/read/28745986/ventilation-in-extremely-preterm-infants-and-respiratory-function-at-8-years
#17
COMPARATIVE STUDY
Lex W Doyle, Elizabeth Carse, Anne-Marie Adams, Sarath Ranganathan, Gillian Opie, Jeanie L Y Cheong
BACKGROUND: Assisted ventilation for extremely preterm infants (<28 weeks of gestation) has become less invasive, but it is unclear whether such developments in care are associated with improvements in short-term or long-term lung function. We compared changes over time in the use of assisted ventilation and oxygen therapy during the newborn period and in lung function at 8 years of age in children whose birth was extremely premature. METHODS: We conducted longitudinal follow-up of all survivors of extremely preterm birth who were born in Victoria, Australia, in three periods - the years 1991 and 1992 (225 infants), 1997 (151 infants), and 2005 (170 infants)...
July 27, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28731670/calcaneus-osteomyelitis-secondary-to-guthrie-test-case-report
#18
Tugce Tural Kara, Tugba Erat, Halil Ozdemir, Aysun Yahsi, Suat Fitoz, Ergin Ciftci, Erdal Incea
Calcaneus osteomyelitis is a rare infection in newborns. Invasive procedures, prematurity and low birth wight are some causative factors. The clinical signs may be mild. We report a neonate with calcaneous osteomyelitis which was secondary to a Guthrie test sample. She was admitted to hospital with swelling, redness and increased temperature on her heel. Superficial tissue ultrasound showed fluid collection with heavy content was observed on the posterior of the right foot. Puncture and drainage was performed and methicillin-susceptible Staphylococcus aureus was isolated from the drainage culture...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28724769/stlv-1-infection-of-papio-anubis-tax-sequence-heterogeneity-and-t-cell-recognition
#19
James M Termini, Diogo M Magnani, Helen S Maxwell, William Lauer, Iris Castro, Jerilyn Pecotte, Glen N Barber, David I Watkins, Ronald C Desrosiers
Natural infection of baboons with simian T lymphotropic virus (STLV) is a potentially useful model system for study of vaccination against the human virus HTLV. Here we expand the number of available full-length STLV-1 baboon sequences from one to three and relate T cell responses that recognize the immunodominant Tax protein to the tax sequences present in two individual baboons. Continuously growing T cell lines were established from two baboons, 12141 and 12752. Next-generation sequencing (NGS) of complete STLV genome sequences from these lines revealed them to be closely related but distinct from each other and from the STLV-1 baboon sequence in the NCBI sequence database...
July 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28724325/use-and-timing-of-surfactant-administration-impact-on-neonatal-outcomes-in-extremely-low-gestational-age-infants-born-in-canadian-neonatal-intensive-care-units
#20
Amelie Stritzke, Khorshid Mohammad, Prakesh S Shah, Xiang Y Ye, Vineet Bhandari, Albert Akierman, Adele Harrison, Valerie Bertelle, Abhay Lodha
BACKGROUND: Use, timing and doses of surfactant in preterm infants are variable in practice in modern NICUs. OBJECTIVE: To explore the association between use and timing of surfactant administration and common neonatal adverse outcomes in preterm infants with gestational age (GA) < 28 weeks. MATERIAL AND METHODS: Neonates admitted to a participating Canadian Neonatal Network NICU between 2013 and 2015 were studied. Infants were divided into three groups based on surfactant administration: None, early (within 30 minutes of life), and late surfactant (> 30 minutes)...
July 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
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