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https://www.readbyqxmd.com/read/29454001/brain-bioenergetics-in-rats-with-acute-hyperphenylalaninemia
#1
Nádia Weber Dimer, Bruna Klippel Ferreira, Jotele Fontana Agostini, Maria Luiza Gomes, Luiza Wilges Kist, Fernanda Malgarin, Milena Carvalho-Silva, Lara Mezari Gomes, Joyce Rebelo, Marisa Jádna Silva Frederico, Fátima Regina Mena Barreto Silva, Eduardo Pacheco Rico, Mauricio Reis Bogo, Emilio Luiz Streck, Gustavo Costa Ferreira, Patrícia Fernanda Schuck
Phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism caused by deficient phenylalanine hydroxylase activity. The deficiency results in increased levels of Phe and its metabolites in fluids and tissues of patients. PKU patients present neurological signals and symptoms including hypomyelination and intellectual deficit. This study assessed brain bioenergetics at 1 h after acute Phe administration to induce hyperphenylalaninemia (HPA) in rats. Wistar rats were randomized in two groups: HPA animals received a single subcutaneous administration of Phe (5...
February 14, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29372238/otolaryngologic-manifestations-of-klippel-feil-syndrome-in-children
#2
Margaret A Kenna, Alexandria L Irace, Julie E Strychowsky, Kosuke Kawai, Devon Barrett, Juliana Manganella, Michael J Cunningham
Importance: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. Objective: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date...
January 25, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29260090/a-recurrent-non-penetrant-sequence-variant-p-arg266cys-in-growth-differentiation-factor-3-gdf3-in-a-female-with-unilateral-anophthalmia-and-skeletal-anomalies
#3
Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-Yan Kwok, Anne Slavotinek
Purpose: The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with vertebral fusion, scoliosis, rudimentary 12th ribs and an anomalous right temporal bone. We used whole exome sequencing with a trio approach to study a female with unilateral anophthalmia, kyphoscoliosis and additional skeletal anomalies...
September 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29194060/cervical-deformity-and-potential-difficult-airway-management-in-klippel-feil-syndrome
#4
Mamta Chura, Nadine Odo, Edward Foley, Vaibhav Bora
No abstract text is available yet for this article.
December 1, 2017: Anesthesiology
https://www.readbyqxmd.com/read/29137102/lateral-medullary-infarction-with-similar-features-of-brown-sequard-syndrome-caused-by-vertebrobasilar-dysplasia-and-klippel-feil-syndrome-a-case-report
#5
Jingzhe Han, Duanhua Cao, Guomei Ma, Tingting Wang, Ye Ji, Zhilei Kang
RATIONALE: Patients with Klippel-Feil syndrome (KFS) are always anomaly associated with vertebrobasilar dysplasia. That may present commonly as infarction of brainstem, medulla, and cerebellum. In this article, we reported a rare case of lateral medullary infarction (LMI) with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and KFS, and the 2 rare conditions that are causally related. The case is being reported because of its unusual and rare presentation...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29016431/incidence-of-congenital-spinal-abnormalities-among-pediatric-patients-and-their-association-with-scoliosis-and-systemic-anomalies
#6
Peter G Passias, Gregory W Poorman, Cyrus M Jalai, Bassel G Diebo, Shaleen Vira, Samantha R Horn, Joseph F Baker, Kartik Shenoy, Saqib Hasan, John Buza, Wesley Bronson, Justin C Paul, Ian Kaye, Norah A Foster, Ryan T Cassilly, Jonathan H Oren, Ronald Moskovich, Breton Line, Cheongeun Oh, Shay Bess, Virginie LaFage, Thomas J Errico
BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems...
October 9, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28967590/a-case-of-intrathoracic-carotid-bifurcation-without-klippel-feil-syndrome
#7
Ryo Itabashi, Yukako Yazawa, Yuya Shigehatake, Eisuke Furui
BACKGROUND: Intrathoracic carotid bifurcation is a rare vascular anomaly, with only 8 cases reported. This vascular anomaly was recently correlated with Klippel-Feil syndrome, a rare congenital disorder involving fusion of the cervical vertebrae. METHODS: A 70-year-old deaf mute man was admitted to our department because of right hemiparesis and right sensory disturbance. He displayed no abnormalities associated with Klippel-Feil syndrome. Diffusion-weighted imaging revealed acute multiple infarcts in bilateral hemispheres...
September 26, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28939926/a-systematic-literature-review-of-the-efficacy-effectiveness-and-safety-of-filgrastim
#8
REVIEW
David C Dale, Jeffrey Crawford, Zandra Klippel, Maureen Reiner, Timothy Osslund, Ellen Fan, Phuong Khanh Morrow, Kim Allcott, Gary H Lyman
PURPOSE: Filgrastim (NEUPOGEN(®)) is the originator recombinant human granulocyte colony-stimulating factor widely used for preventing neutropenia-related infections and mobilizing hematopoietic stem cells. This report presents findings of a systematic literature review and meta-analysis of efficacy and safety of originator filgrastim to update previous reports. METHODS: A literature search of electronic databases, congress abstracts, and bibliographies of recent reviews was conducted to identify English-language reports of clinical trials and observational studies evaluating filgrastim in its US-approved indications up to February 2015...
September 22, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28874597/risk-of-febrile-neutropenia-associated-with-select-myelosuppressive-chemotherapy-regimens-in-a-large-community-based-oncology-practice
#9
Yanli Li, Leila Family, Su-Jau Yang, Zandra Klippel, John H Page, Chun Chao
Background: NCCN has classified commonly used chemotherapy regimens into high (>20%), intermediate (10%-20%), or low (<10%) febrile neutropenia (FN) risk categories based primarily on clinical trial evidence. Many chemotherapy regimens, however, remain unclassified by NCCN or lack FN incidence data in real-world clinical practice. Patients and Methods: We evaluated incidence proportions of FN and grade 4 and 3/4 neutropenia during the first chemotherapy course among patients from Kaiser Permanente Southern California who received selected chemotherapy regimens without well-established FN risk...
September 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28781856/endoscopic-third-ventriculostomy-for-hydrocephalus-in-a-patient-with-klippel-feil-syndrome-a-case-report
#10
Tomohisa Ishida, Takashi Inoue, Miki Fujimura, Yoshiteru Shimoda, Masayuki Ezura, Hiroshi Uenohara, Teiji Tominaga
A patient with Klippel-Feil syndrome presented with hydrocephalus secondary to intraventricular hemorrhage. Fusion of the cervical vertebrae may have impeded cerebrospinal fluid flow. Change in the properties of cerebrospinal fluid flow after hemorrhage may have induced noncommunicating hydrocephalus. Endoscopic third ventriculostomy was effective for the treatment of hydrocephalus associated with Klippel-Feil syndrome.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#11
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
November 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28626413/the-crossed-flexor-plantar-response-in-patients-with-klippel-feil-syndrome
#12
Anna Sadnicka, Simon F Farmer
The plantar reflex is one of most important and widely tested components of the neurological examination. We describe 3 subjects with Klippel-Feil syndrome and mirror movements where unilateral cutaneous stimulation of the foot leads to flexor plantar responses in both feet. We discuss the evidence which suggests that this "crossed flexor" plantar response reveals a transcortical pathway for the flexor plantar response.
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28583038/carfilzomib-as-salvage-therapy-in-waldenstrom-macroglobulinemia-a-case-series
#13
David H Vesole, Joshua Richter, Noa Biran, Laura McBride, Palka Anand, Mei Huang, Anita-Zahlten Kumeli, Zandra Klippel, Karim Iskander, David S Siegel
No abstract text is available yet for this article.
June 5, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28577648/molecular-typing-of-human-platelet-antigens-in-immune-thrombocytopenia-patients-in-northern-brazil
#14
Julia Cavalcante do Carmo, Prissyla de Souza Klippel, Sabrine da Costa Cordeiro, Ângela Maria Dos Santos Fernandes, Raquel Medeiros Pinto, Simone Schneider Weber, Cleiton Fantin
BACKGROUND: Immune thrombocytopenia is an immune disease characterized by thrombocytopenia and bleeding due to platelet antibodies against platelet membrane glycoproteins. Human platelet antigens are derived from polymorphisms of these glycoproteins. The aim of this study was to investigate human platelet antigen frequencies in immune thrombocytopenia patients from the state of Amazonas, Brazil and investigate the potential association between specific antigens and risk for immune thrombocytopenia...
April 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28553382/klippel-feil-syndrome-associated-with-sacral-agenesis-low-lying-cord-lipomyelomeningocele-and-split-cord-malformation-presenting-with-tethered-cord-syndrome-pentads-neural-tube-defects-spread-along-whole-spinal-axis
#15
Guru Dutta Satyarthee, Amandeep Kumar
Neural tube defects are congenital development anomaly of the central nervous system and usually have relatively more predilection to affect at anterior and posterior neuropore embryological development sites, so usually one or two defects are commonly encountered. However, occurrence of simultaneous multiple neural tube defects is very rare, presence of constellation of five neural defects is extremely rare, and all defects add up together to produce gross neurological deficit. We present an interesting case of a 23-year-old male who presented with history of lower backache and noticed wasting and weakness of lower limbs associated with difficulty in walking for the last 2 years but had no associated sphincter disturbances...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28462155/azoospermia-in-a-male-with-klippel-feil-anomaly
#16
Maria Uloko, Elizabeth Bearrick, Joshua Bodie
Müllerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS) is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel-Feil anomaly.
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28425449/the-impact-of-treatments-for-depression-on-the-dynamic-network-structure-of-mental-states-two-randomized-controlled-trials
#17
Evelien Snippe, Wolfgang Viechtbauer, Nicole Geschwind, Annelie Klippel, Peter de Jonge, Marieke Wichers
Evidence is growing that vulnerability to depression may be characterized by strong negative feedback loops between mental states. It is unknown whether such dynamics between mental states can be altered by treatment. This study examined whether treatment with imipramine or treatment with Mindfulness-Based Cognitive Therapy (MBCT) reduces the connectivity within dynamic networks of mental states in individuals with depressive symptoms. In the Imipramine trial, individuals diagnosed with major depression were randomized to imipramine treatment or placebo-pill treatment (n = 50)...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28410903/l-ut%C3%A3-rus-unicorne-et-le-syndrome-de-klippel-feil
#18
Areiyu Zhang
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28410901/unicornuate-uterus-in-klippel-feil-syndrome
#19
Areiyu Zhang, Luz Arbelaez
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28387188/deep-sedation-technique-for-dental-rehabilitation-of-a-patient-with-klippel-feil-syndrome
#20
Halima Abukabbos, Michael Mahla, Abi O Adewumi
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in their fusion. The clinical triad of the syndrome consists of short neck, low posterior hairline, and limited neck movement, although fewer than 50 percent of patients demonstrate all three clinical features. The short neck and its immobility and instability present a significant challenge for endotracheal intubation. The purpose of this paper is to describe the management of a 13-year-old patient with KFS, extensive dental caries, and restricted mouth opening using a deep sedation technique in the operating room, which allowed successful completion of dental treatment...
January 15, 2017: Journal of Dentistry for Children
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