keyword
MENU ▼
Read by QxMD icon Read
search

klippel -trenaunay

keyword
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#1
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29653316/clinical-variability-and-onset-age-modifiers-in-an-extended-belgian-grn-founder-family
#2
Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe, Stéphanie Philtjens, Marleen Van den Broeck, Karin Peeters, Ivy Cuijt, Wouter De Coster, Tim Van Langenhove, Patrick Santens, Adrian Ivanoiu, Patrick Cras, Jan L De Bleecker, Jan Versijpt, Roeland Crols, Nina De Klippel, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven
We previously reported a granulin (GRN) null mutation, originating from a common founder, in multiple Belgian families with frontotemporal dementia. Here, we used data of a 10-year follow-up study to describe in detail the clinical heterogeneity observed in this extended founder pedigree. We identified 85 patients and 40 unaffected mutation carriers, belonging to 29 branches of the founder pedigree. Most patients (74.4%) were diagnosed with frontotemporal dementia, while others had a clinical diagnosis of unspecified dementia, Alzheimer's dementia or Parkinson's disease...
March 10, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29619791/sedation-in-a-child-with-klippel-feil-syndrome-scheduled-for-magnetic-resonance-imaging
#3
Swati Chhabra, S K Singhal, Sadik Mohammed, Ghansham Biyani, Rakesh Pandey
No abstract text is available yet for this article.
April 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29548946/anomaly-related-pathological-atlantoaxial-displacement-in-pediatric-patients
#4
Olga M Pavlova, Sergey O Ryabykh, Alexander V Burcev, Alexander V Gubin
STUDY DESIGN: Case series, level 4 of evidence. OBJECTIVES: To analyze clinical and radiological features of pathological atlantoaxial displacement (PAAD) in pediatric patients. To compose treatment algorithm for anomaly-related PAAD. SUMMARY OF BACKGROUND DATA: Criteria of different types of PAAD and treatment algorithms have been widely reported in the literature, but difficulty applicable in patients with odontoid abnormalities, C2-C3 block, spina bifida C1 and children...
March 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29492320/klippel-feil-syndrome-with-sprengel-deformity-and-extensive-upper-extremity-deformity-a-case-report-and-literature-review
#5
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29476313/sensitivity-to-peer-evaluation-and-its-genetic-and-environmental-determinants-findings-from-a-population-based-twin-study
#6
Annelie Klippel, Ulrich Reininghaus, Wolfgang Viechtbauer, Jeroen Decoster, Philippe Delespaul, Cathérine Derom, Marc de Hert, Nele Jacobs, Claudia Menne-Lothmann, Bart Rutten, Evert Thiery, Jim van Os, Ruud van Winkel, Inez Myin-Germeys, Marieke Wichers
Adolescents and young adults are highly focused on peer evaluation, but little is known about sources of their differential sensitivity. We examined to what extent sensitivity to peer evaluation is influenced by interacting environmental and genetic factors. A sample of 354 healthy adolescent twin pairs (n = 708) took part in a structured, laboratory task in which they were exposed to peer evaluation. The proportion of the variance in sensitivity to peer evaluation due to genetic and environmental factors was estimated, as was the association with specific a priori environmental risk factors...
February 23, 2018: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/29454001/brain-bioenergetics-in-rats-with-acute-hyperphenylalaninemia
#7
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
#8
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...
March 1, 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
#9
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
#10
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
#11
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
#12
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
#13
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...
January 2018: 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
#14
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...
January 2018: 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
97759
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"