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https://www.readbyqxmd.com/read/29342313/collagen-xii-myopathy-with-rectus-femoris-atrophy-and-collagen-xii-retention-in-fibroblasts
#1
Nanna Witting, Thomas Krag, Ulla Werlauff, Morten Duno, Sofie Thuroe Oestergaard, Julia Rebecka Dahlqvist, John Vissing
INTRODUCTION: Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations. METHODS: Systematic interview, clinical examination, skin biopsies and MRI muscle. RESULTS: The phenotype was characterized by neonatal hypotonia, contractures and delayed motor development followed by resolution of contractures and a motor performance limited by reduced endurance...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342293/genetic-analyses-in-small-for-gestational-age-newborns
#2
Susanne E Stalman, Nita Solanky, Miho Ishida, Cristina Alemán-Charlet, Sayeda Abu-Amero, Marielle Alders, Lucas Alvizi, William Baird, Charalambos Demetriou, Peter Henneman, Chela James, Lia C Knegt, Lydia J Leon, Marcel M A M Mannens, Adi N Mul, Nicole A Nibbering, Emma Peskett, Faisal I Rezwan, Carrie Ris-Stalpers, Joris A M van der Post, Gerdine A Kamp, Frans B Plötz, Jan M Wit, Philip Stanier, Gudrun E Moore, Raoul C Hennekam
Context: Small for gestational age (SGA) can be a result of fetal growth restriction, associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective: The aim of the present study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more CNVs and disturbed methylation and sequence variants may be present in genes known to be associated with fetal growth...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#3
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29342173/hormone-induced-differential-transcriptome-analysis-of-sertoli-cells-during-postnatal-maturation-of-rat-testes
#4
Mukesh Gautam, Indrashis Bhattacharya, Umesh Rai, Subeer S Majumdar
Sertoli cells (Sc) are unique somatic cells of testis that are the target of both FSH and testosterone (T) and regulate spermatogenesis. Although Sc of neonatal rat testes are exposed to high levels of FSH and T, robust differentiation of spermatogonial cells becomes conspicuous only after 11-days of postnatal age. We have demonstrated earlier that a developmental switch in terms of hormonal responsiveness occurs in rat Sc at around 12 days of postnatal age during the rapid transition of spermatogonia A to B...
2018: PloS One
https://www.readbyqxmd.com/read/29341967/new-modalities-for-the-administration-of-inhaled-nitric-oxide-in-intensive-care-units-after-cardiac-surgery-or-for-neonatal-indications-a-prospective-observational-study
#5
Philippe Gaudard, Claudio Barbanti, Bertrand Rozec, Philippe Mauriat, Mimoun M'rini, Gilles Cambonie, Jean Michel Liet, Claude Girard, Pierre Louis Leger, Ziad Assaf, Pierre Damas, Gauthier Loron, Laurent Lecourt, Julien Amour, Philippe Pouard
BACKGROUND: Nitric oxide (NO) has a well-known efficacy in pulmonary hypertension (PH), with wide use for 20 years in many countries. The objective of this study was to describe the current use of NO in real life and the gap with the guidelines. METHODS: This is a multicenter, prospective, observational study on inhaled NO administered through an integrated delivery and monitoring device and indicated for PH according to the market authorizations. The characteristics of NO therapy and ventilation modes were observed...
January 16, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29341518/harlequin-ichthyosis-a-case-report
#6
C H Ugezu, A Mazumdar, E Dunn, A Das
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased...
August 8, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#7
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341476/a-rare-male-patient-with-classic-rett-syndrome-caused-by-mecp2_e1-mutation
#8
Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341424/fetal-ultrasonographic-findings-including-cerebral-hyperechogenicity-in-a-patient-with-non-lethal-form-of-raine-syndrome
#9
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341379/erector-spinae-plane-block-for-inguinal-hernia-repair-in-preterm-infants
#10
Maria A Hernandez, Lucio Palazzi, Julio Lapalma, Joseph Cravero
Neuro-axial anesthesia has been the preferred technique for inguinal hernia repair when attempting to avoid general anesthesia in neonates and preterm infants. We present a case where an erector spinae plane block was used successfully for this surgery. Hemodynamic stability, minimal anesthetic requirements, and excellent pain control were documented. This block promises to be a valuable and safe alternative for inguinal hernia repair, accompanying the path of neuroprotective anesthesia.
January 17, 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29341252/painful-procedures-can-affect-postnatal-growth-and-neurodevelopment-in-preterm-infants
#11
Caterina Coviello, Marina Popple Martinez, Livia Drovandi, Corsini Iuri, Valentina Leonardi, Clara Lunardi, Carla Antonelli, Simone Pratesi, Carlo Dani
AIM: This Italian study evaluated whether painful procedures during the first four weeks of life were related to subsequent weight gain, head circumference (HC) and neurodevelopmental outcomes in preterm infants, METHODS: We evaluated the number of invasive procedures that infants born at less than 32 weeks of gestational age (GA) underwent in the Neonatal Intensive Care Unit of Careggi Hospital, Florence from January to December 2015. Weight and HC were recorded at birth, 36 weeks of PMA and six and 12 months of CA...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29341248/are-kidney-transplantation-outcomes-improved-in-children-weighting-15-kilograms-or-less-in-the-last-decades
#12
George S Reusz, Miklos Z Molnar
As perinatal and postnatal care of neonates with impaired kidney function is constantly improving, the number of infants needing renal replacement therapy is increasing. Consequently, the general attitude of clinicians to offer renal replacement therapy (RRT) during the first year of life is changing gradually. The ideal renal replacement modality for children and adolescents is renal transplantation (RTX), as both the short-term and long-term medical complications of hemo- and peritoneal dialysis confer inferior survival rates compared to RTX to this patent group...
January 16, 2018: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/29341045/approach-to-infants-born-through-meconium-stained-amniotic-fluid-evolution-based-on-evidence
#13
Munmun Rawat, Sushma Nangia, Praveen Chandrasekharan, Satyan Lakshminrusimha
Meconium-stained amniotic fluid (MSAF) during delivery is a marker of fetal stress. Neonates born through MSAF often need resuscitation and are at risk of meconium aspiration syndrome (MAS), air leaks, hypoxic-ischemic encephalopathy, extracorporeal membrane oxygenation (ECMO), and death. The neonatal resuscitation approach to MSAF has evolved over the last three decades. Previously, nonvigorous neonates soon after delivery were suctioned under the vocal cords with direct visualization technique using a meconium aspirator...
January 16, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29341043/can-neonatal-brain-mri-be-performed-during-active-cooling
#14
Marisa J Pacella, Dhanashree A Rajderkar, Nicole Copenhaver, Kristine Boykin, Michael D Weiss
OBJECTIVE:  Due to logistical constraints, physicians traditionally delay diagnostic imaging for neonatal hypoxic-ischemic encephalopathy (HIE) until the neonate has completed all 72 hours of therapeutic hypothermia and rewarming. In some cases, neonates may require neuroimaging before 72 hours has passed. STUDY DESIGN:  We present a case in which an MRI was acquired during active hypothermia. RESULTS:  Upon return to the NICU, Baby X's temperature probe read 33...
January 16, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29340851/comparison-of-antibiotic-dosing-recommendations-for-neonatal-sepsis-from-established-reference-sources
#15
T B Y Liem, E M A Slob, J U M Termote, T F W Wolfs, A C G Egberts, C M A Rademaker
Background Incorrect dosing is the most frequent prescribing error in neonatology, with antibiotics being the most frequently prescribed medicines. Computer physician order entry and clinical decision support systems can create consistency contributing to a reduction of medication errors. Although evidence-based dosing recommendations should be included in such systems, the evidence is not always available and subsequently, dosing recommendations mentioned in guidelines and textbooks are often based on expert opinion...
January 16, 2018: International Journal of Clinical Pharmacy
https://www.readbyqxmd.com/read/29340812/partial-amniotic-carbon-dioxide-insufflation-paci-during-minimally-invasive-fetoscopic-interventions-on-fetuses-with-spina-bifida-aperta
#16
Miriam Ziemann, Rolf Fimmers, Anastasiia Khaleeva, Rainer Schürg, Markus A Weigand, Thomas Kohl
BACKGROUND: Percutaneous partial amniotic carbon dioxide insufflation (PACI) is one of the most important means for improving visualization during minimally invasive fetoscopic surgery of fetal spina bifida. The purpose of the present study was to analyze maternal and fetal safety aspects of PACI in a recent patient cohort and to present management improvements. METHODS: PACI under general materno-fetal anesthesia was performed during 65 interventions for fetoscopic patch coverage of fetal spina bifida aperta between 21 + 0 and 29 + 1 weeks of gestation...
January 16, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29340788/the-impact-of-advanced-maternal-age-on-the-outcome-of-twin-pregnancies
#17
Ohad Gluck, Yossi Mizrachi, Jacob Bar, Giulia Barda
PURPOSE: To assess the effect of advanced maternal age on the obstetrics and neonatal outcome of twin pregnancies. METHODS: A retrospective study of 716 dichorionic-diamniotic twin pregnancies delivered at our institute. The study population was divided into two groups: women aged 35-39 years (group A, n = 142) and women aged ≥ 40 years (Group B, n = 48). The control group consisted of women younger than 35 years (group C, n = 516). RESULTS: The rate of cesarean section (CS) was significantly higher among women older than 35 years compared to the control group (A 76...
January 16, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#18
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29339967/preventing-neonatal-herpes-infections-through-maternal-immunization
#19
EDITORIAL
Yike Jiang, David Leib
No abstract text is available yet for this article.
December 2017: Future Virology
https://www.readbyqxmd.com/read/29339832/clock%C3%AE-19-mutation-modifies-the-manner-of-synchrony-among-oscillation-neurons-in-the-suprachiasmatic-nucleus
#20
Mitsugu Sujino, Takeshi Asakawa, Mamoru Nagano, Satoshi Koinuma, Koh-Hei Masumoto, Yasufumi Shigeyoshi
In mammals, the principal circadian oscillator exists in the hypothalamic suprachiasmatic nucleus (SCN). In the SCN, CLOCK works as an essential component of molecular circadian oscillation, and ClockΔ19 mutant mice show unique characteristics of circadian rhythms such as extended free running periods, amplitude attenuation, and high-magnitude phase-resetting responses. Here we investigated what modifications occur in the spatiotemporal organization of clock gene expression in the SCN of ClockΔ19 mutants...
January 16, 2018: Scientific Reports
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