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https://read.qxmd.com/read/30887109/dialysis-modalities-for-the-management-of-pediatric-acute-kidney-injury
#1
Lara de Galasso, Stefano Picca, Isabella Guzzo
Acute kidney injury (AKI) is an increasingly frequent complication among hospitalized children. It is associated with high morbidity and mortality, especially in neonates and children requiring dialysis. The different renal replacement therapy (RRT) options for AKI have expanded from peritoneal dialysis (PD) and intermittent hemodialysis (HD) to continuous RRT (CRRT) and hybrid modalities. Recent advances in the provision of RRT in children allow a higher standard of care for increasingly ill and young patients...
March 18, 2019: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://read.qxmd.com/read/30885911/dynamics-of-organic-anion-transporter-mediated-tubular-secretion-during-postnatal-human-kidney-development-and-maturation
#2
Jeremiah D Momper, Jin Yang, Mary Gockenbach, Florin Vaida, Sanjay K Nigam
BACKGROUND AND OBJECTIVES: The neonatal and juvenile human kidney can be exposed to a variety of potentially toxic drugs ( e.g. , nonsteroidal anti-inflammatory drugs, antibiotics, antivirals, diuretics), many of which are substrates of the kidney organic anion transporters, OAT1 (SLC22A6, originally NKT) and OAT3 (SLC22A8). Despite the immense concern about the consequences of drug toxicity in this vulnerable population, the developmental regulation of OATs in the immature postnatal kidney is poorly understood...
March 18, 2019: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/30885820/microrna-132-regulates-total-protein-of-nav1-1-and-nav1-2-in-the-hippocampus-and-cortex-of-rat-with-chronic-cerebral-hypoperfusion
#3
Xue-Ling Hu, Xiao-Xue Wang, Yan-Meng Zhu, Li-Na Xuan, Li-Wei Peng, Yun-Qi Liu, Hua Yang, Chao Yang, Lei Jiao, Peng-Zhou Hang, Li-Hua Sun
Nav1.1 and Nav1.2 are the voltage-gated sodium channel alpha subunit1 and 2, encoded by the genes of SCN1 A and SCN2 A. Previous studies have shown that chronic cerebral hypoperfusion (CCH) could induce neuropathological and cognitive impairment and increased total Nav1.1 and Nav1.2protein levels, yet the detailed mechanisms are not fully understood. MicroRNAs (miRNAs) are a class of small, non-coding RNAs that are involved in the regulation of dementia. miR-132 is known to play a key role in neurodegenerative disease...
March 15, 2019: Behavioural Brain Research
https://read.qxmd.com/read/30879005/sotos-syndrome-presenting-with-neonatal-hyperinsulinaemic-hypoglycaemia-extensive-thrombosis-and-multisystem-involvement
#4
Manuela Cerbone, Emma Clement, Martin McClatchey, Joanna Dobbin, Clare Gilbert, Morgan Keane, Lamia Boukhibar, Hywel Williams, Andrey Gagunashvili, Mehul T Dattani, Jane Hurst, Pratik Shah
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI in SoS is unclear. We report the case of a neonate presenting with CHI and extensive venous and arterial thrombosis associated with kidney, heart, liver, skeleton, and brain abnormalities and finally diagnosed with SoS on whole genome sequencing. Our case describes an extended phenotype associated with SoS presenting with CHI (including thrombosis and liver dysfunction) and reinforces the association of transient CHI with SoS...
March 15, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30872927/bochdalek-hernias-in-children-with-late-presentation
#5
Tugay Tartar, Mehmet Saraç, Ünal Bakal, Ahmet Kazez
Aim: Bochdalek hernias, which brought after the neonatal period, are also late-defined cases. In this study, we aimed to present the clinical characteristics of patients with late-presentation Bochdalek hernias who underwent surgery in a reference hospital and our experience regarding their diagnosis. Material and Methods: Patients with late-presentation Bochdalek hernia who underwent surgery in our clinic between 2001 and 2016 were analyzed retrospectively in terms of the causes of the delay in diagnosis, symptoms, and radiologic and surgical results...
December 2018: Türk Pediatri Arşivi
https://read.qxmd.com/read/30866776/infectivity-of-zika-virus-on-primary-cells-support-tree-shrew-as-animal-model
#6
Li Zhang, Zhi-Li Shen, Yue Feng, Dao-Qun Li, Na-Na Zhang, Yong-Qiang Deng, Xiao-Peng Qi, Xiao-Mei Sun, Jie-Jie Dai, Chun-Guang Yang, Zi-Feng Yang, Cheng-Feng Qin, Xue-Shan Xia
Zika virus (ZIKV) is a mosquito-borne flavivirus that caused the public health emergency. Recently, we have proved a novel small animal tree shrew was susceptive to ZIKV infection and presented the most common rash symptoms as ZIKV patients. Here we further cultured the primary cells from different tissues of this animal to determine the tissue tropism of ZIKV infection in vitro. The results showed that the primary cells from tree shrew kidney, lung, liver, skin and aorta were permissive to ZIKV infection and could support viral replication by the detection of viral specific RNA intra- and extra-cells...
2019: Emerging Microbes & Infections
https://read.qxmd.com/read/30861524/premature-lambs-exhibit-normal-mitochondrial-respiration-after-long-term-extrauterine-support
#7
Avery C Rossidis, Alessia Angelin, Kendall M Lawrence, Heron D Baumgarten, Aimee G Kim, Ali Y Mejaddam, Barbara E Coons, Heather A Hartman, Grace Hwang, Stylianos Monos, William H Peranteau, Marcus G Davey, Deborah Murdock, Douglas C Wallace, Alan W Flake
BACKGROUND: In an effort to mitigate the major morbidities and mortality associated with extreme prematurity, we have developed an EXTrauterine Environment for Neonatal Development (EXTEND) designed to provide physiologic support of extremely premature infants. OBJECTIVES: We have previously shown that long-term, physiologic support of premature fetal lambs is possible with EXTEND, but in this study, we sought to demonstrate bioenergetic equipoise at the tissue level...
March 12, 2019: Fetal Diagnosis and Therapy
https://read.qxmd.com/read/30853180/function-of-the-plzf-gene-in-early-development-and-self-renewal-of-t-cells-in-mice
#8
Jiang-Long Du, Xin Cao, Han-Yu Liu, Yan Zeng, Xue-Cai Yang, Xue-Mei Wan, Fan-Fan Chang, Tian-Yu Zhao, Xiao-Ye Jia, Hai-Zhen Wang, Jing Liu, Kui-Zheng Cai, Zhong-Ren Ma
BACKGROUND/AIMS: The expression of transcription factor Zbtb1 is essential for the maintenance and development of various blood cells in the hematopoietic system. In the current study, we found that the total number of thymocytes in PLZF deficient mice was reduced compared with thymocytes in wild-type mice, and the number of early T-cell progenitors decreased. However, the decrease of thymocytes in PLZF deficient mice was not cell intrinsic. This study adds new information regarding the regulation of the PLZF gene in the development and self-renewal of T cells...
March 7, 2019: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/30818997/fibroblast-primary-cilia-are-required-for-cardiac-fibrosis
#9
Elisa Villalobos, Alfredo Criollo, Gabriele G Schiattarella, Francisco Altamirano, Kristin M French, Herman I May, Nan Jiang, Ngoc Uyen Nhi Nguyen, Diego Romero, Juan Carlos Roa, Lorena García, Guillermo Diaz-Araya, Eugenia Morselli, Anwarul Ferdous, Simon J Conway, Hesham A Sadek, Thomas G Gillette, Sergio Lavandero, Joseph A Hill
BACKGROUND: The primary cilium is a singular cellular structure that extends from the surface of many cell types and plays crucial roles in vertebrate development, including that of the heart. Whereas ciliated cells have been described in developing heart, a role for primary cilia in adult heart has not been reported. This, coupled with the fact that mutations in genes coding for multiple ciliary proteins underlie polycystic kidney disease, a disorder with numerous cardiovascular manifestations, prompted us to identify cells in adult heart harboring a primary cilium and to determine whether primary cilia play a role in disease-related remodeling...
March 1, 2019: Circulation
https://read.qxmd.com/read/30811433/differential-trafficking-of-albumin-and-igg-facilitated-by-the-neonatal-fc-receptor-in-podocytes-in-vitro-and-in-vivo
#10
James Dylewski, Evgenia Dobrinskikh, Linda Lewis, Pantipa Tonsawan, Makoto Miyazaki, Parmjit S Jat, Judith Blaine
Proteinuria is strongly associated with kidney disease progression but the mechanisms underlying podocyte handling of serum proteins such as albumin and IgG remain to be elucidated. We have previously shown that albumin and IgG are transcytosed by podocytes in vitro. In other epithelial cells, the neonatal Fc receptor (FcRn) is required to salvage albumin and IgG from the degradative pathway thereby allowing these proteins to be transcytosed or recycled. Here we directly examine the role of FcRn in albumin and IgG trafficking in podocytes by studying handling of these proteins in FcRn knockout (KO) podocytes in vitro and in a podocyte-specific FcRn knockout mice in vivo...
2019: PloS One
https://read.qxmd.com/read/30809662/personalized-medicine-in-chronic-kidney-disease-by-detection-of-monogenic-mutations
#11
Dervla M Connaughton, Friedhelm Hildebrandt
A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in origin. To date, ∼450 monogenic (synonymous with single-gene disorders) genes, if mutated, are known to cause CKD, explaining ∼30% of cases in pediatric cohorts and ∼5-30% in adult cohorts. However, there are likely hundreds of additional monogenic nephropathy genes that may be revealed by whole-exome or -genome sequencing. Although the discovery of novel CKD-causing genes has accelerated, significant challenges in adult populations remain due to broad phenotypic heterogeneity together with variable expressivity, incomplete penetrance or age-related penetrance of these genes...
February 26, 2019: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/30808639/blood-group-genotyping
#12
Connie M Westhoff
Genomics is impacting all areas of medicine. In transfusion medicine, DNA-based genotyping is being used as an alternative to serological antibody-based methods to determine blood groups for matching donor to recipient. Most antigenic polymorphisms are due to single nucleotide changes (SNP's) in the respective genes and DNA-arrays that target these changes have been validated by comparison with antibody-based typing. Importantly, the ability to test for antigens for which there are no serologic reagents is a major medical advance to identify antibodies and to find compatible donor units and can be life-saving...
February 26, 2019: Blood
https://read.qxmd.com/read/30798259/theophylline-and-aminophylline-for-prevention-of-acute-kidney-injury-in-neonates-and-children-a-systematic-review
#13
Girish Chandra Bhatt, Priya Gogia, Martin Bitzan, Rashmi Ranjan Das
OBJECTIVE: To compare the efficacy and safety of theophylline or aminophylline for prevention of acute kidney injury (AKI) in neonates and children. DESIGN: Systematic review and meta-analysis with application of Grading of Recommendations, Assessment, Development and Evaluation system. DATA SOURCES: PubMed/MEDLINE, Embase, Google Scholar and Cochrane renal group were searched from 1970 to May 2018. ELIGIBILITY CRITERIA: Randomised clinical trials and quasi-randomised trials comparing the efficacy and safety of prophylactic theophylline or aminophylline for prevention of AKI in neonates and children were included...
February 23, 2019: Archives of Disease in Childhood
https://read.qxmd.com/read/30791938/not-only-alagille-syndrome-syndromic-paucity-of-interlobular-bile-ducts-secondary-to-hnf1%C3%AE-deficiency-a-case-report-and-literature-review
#14
Michele Pinon, Michele Carboni, Davide Colavito, Fabio Cisarò, Licia Peruzzi, Antonio Pizzol, Giulia Calosso, Ezio David, Pier Luigi Calvo
BACKGROUND: paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β mutations. A syndromic phenotype, known as renal cysts and diabetes syndrome (RCAD), has been identified. This is usually characterized by a wide clinical spectrum, including renal cysts, maturity-onset diabetes of the young, exocrine pancreatic insufficiency, urogenital abnormalities and a not well established liver involvement...
February 21, 2019: Italian Journal of Pediatrics
https://read.qxmd.com/read/30784238/severe-congenital-nephrogenic-diabetes-insipidus-in-a-compound-heterozygote-with-a-new-large-deletion-of-the-aqp2-gene-a-case-report
#15
Ramón Peces, Rocío Mena, Carlos Peces, Fernando Santos-Simarro, Luis Fernández, Sara Afonso, Pablo Lapunzina, Rafael Selgas, Julián Nevado
BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). In the majority of the cases, the disease shows an X-linked inherited pattern, although an autosomal recessive inheritance was also observed. METHODS: We report a patient with a severe NDI diagnosed during the neonatal period. Because the patient was female without a family history of congenital NDI, her disease was thought to exhibit an autosomal recessive form...
February 19, 2019: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/30762655/apparent-diffusion-coefficient-of-the-placenta-and-fetal-organs-in-intrauterine-growth-restriction
#16
Ahmed Abdel Khalek Abdel Razek, Mahmoud Thabet, Eman Abdel Salam
PURPOSE: This study aimed to assess apparent diffusion coefficient (ADC) of the placenta and fetal organs in intrauterine growth restriction (IUGR). MATERIALS AND METHODS: A prospective study of 30 consecutive pregnant women (aged 21-38 years with mean age of 31.5 years and a mean gestational week of 35 ± 2.3) with IUGR and 15 age-matched pregnant women was conducted. All patients and controls underwent diffusion-weighted magnetic resonance imaging. The ADCs of the placenta and fetal brain, kidney, and lung were calculated and correlated with neonates needing intensive care unit (ICU) admission...
February 11, 2019: Journal of Computer Assisted Tomography
https://read.qxmd.com/read/30745571/urinary-acute-kidney-injury-biomarkers-in-very-low-birth-weight-infants-on-indomethacin-for-patent-ductus-arteriosus
#17
Sina Waldherr, Alexander Fichtner, Bernd Beedgen, Thomas Bruckner, Franz Schaefer, Burkhard Tönshoff, Johannes Pöschl, Timm H Westhoff, Jens H Westhoff
BACKGROUND: Serum creatinine (SCr)- or urine output-based definitions of acute kidney injury (AKI) have important limitations in neonates. This study evaluates the diagnostic value of urinary biomarkers in very low-birth-weight (VLBW) infants receiving indomethacin for closure of a patent ductus arteriosus (PDA). METHODS: Prospective cohort study in 14 indomethacin-treated VLBW infants and 18 VLBW infants without indomethacin as controls. Urinary biomarkers were measured before, during, and after indomethacin administration...
February 11, 2019: Pediatric Research
https://read.qxmd.com/read/30745418/spliced-xbp1-rescues-renal-interstitial-inflammation-due-to-loss-of-sec63-in-collecting-ducts
#18
Yasunobu Ishikawa, Sorin Fedeles, Arnaud Marlier, Chao Zhang, Anna-Rachel Gallagher, Ann-Hwee Lee, Stefan Somlo
BACKGROUND: SEC63 encodes a resident protein in the endoplasmic reticulum membrane that, when mutated, causes human autosomal dominant polycystic liver disease. Selective inactivation of Sec63 in all distal nephron segments in embryonic mouse kidney results in polycystin-1-mediated polycystic kidney disease (PKD). It also activates the Ire1 α -Xbp1 branch of the unfolded protein response, producing Xbp1s, the active transcription factor promoting expression of specific genes to alleviate endoplasmic reticulum stress...
February 11, 2019: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/30737767/trial-of-labor-after-cesarean-section-in-risk-pregnancies-a-population-based-cohort-study
#19
Sjur Lehmann, Elham Baghestan, Per Engebret Børdahl, Lorentz Muller Irgens, Svein Arvid Rasmussen
INTRODUCTION: In most pregnancies after a cesarean section, a trial of labor is an option. The objective of the study was to explore trial of labor and its failure in pregnancies with medical risk conditions, in a population with a high trial of labor rate. MATERIAL AND METHODS: In a cohort study (n=57 109), using data from the Medical Birth Registry of Norway 1989-2014, women with a second delivery after a first pregnancy cesarean section were included. Preterm, multiple, and non-cephalic deliveries were excluded...
February 8, 2019: Acta Obstetricia et Gynecologica Scandinavica
https://read.qxmd.com/read/30722724/extrahepatic-nonreticuloendothelial-siderosis-is-not-specific-to-gestational-alloimmune-liver-disease
#20
Hao Wu, William Ferguson, Eumenia Castro, Debra Kearney, Milton Finegold, Kalyani Patel
Autopsy reports of 78 stillbirths and early infant deaths (up to age 8 weeks) were reviewed to investigate the prevalence of extrahepatic nonreticuloendothelial siderosis (EHNRS) in the context of neonatal liver failure. Of these, 10 liveborns (12.8%), M:F 3:2, with mean gestational age 37.6 weeks (range: 35-39) and mean age at the time of demise 19.1 days (range: 7-42), showed significant liver injury: infection (n = 7, viral > fungal), congenital malformations (n = 2), and ischemia (n = 1)...
February 5, 2019: Pediatric and Developmental Pathology
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