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https://www.readbyqxmd.com/read/28346953/lennox-gastaut-syndrome-a-state-of-the-art-review
#1
Mario Mastrangelo
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting from dysfunctions of a complex system involving both cortical and subcortical structures (default-mode network, corticoreticular connections, and thalamus). These dysfunctions are produced by different disorders including hypoxic-ischemic encephalopathies, meningoencephalitis, cortical malformations, neurocutaneous disorders, or tumors...
March 27, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28346846/dna-methylation-of-the-pdgfd-gene-promoter-increases-the-risk-for-intracranial-aneurysms-and-brain-arteriovenous-malformations
#2
Shengjun Zhou, Xiang Gao, Jie Sun, Zhiqing Lin, Yi Huang
The aim of this study was to determine the role of DNA methylation of the platelet-derived growth factor-D (PDGFD) gene promoter in the development of intracranial aneurysms (IAs) and brain arteriovenous malformations (BAVMs). A total of 70 patients with IAs or BAVMs and 26 control individuals were enrolled for this study. The PDGFD level in the plasma was determined using enzyme-linked immunosorbent assay. DNA methylation levels of seven cytosine-phosphate-guanine (CpG) dinucleotides present in the PDGFD gene promoter were measured using bisulfite pyrosequencing technology...
March 27, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#3
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346476/reduced-dosage-of-%C3%AE-catenin-provides-significant-rescue-of-cardiac-outflow-tract-anomalies-in-a-tbx1-conditional-null-mouse-model-of-22q11-2-deletion-syndrome
#4
Silvia E Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E Morrow
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. Inactivation of Tbx1 in the anterior heart field (AHF) mesoderm in the mouse results in premature expression of pro-differentiation genes and a persistent truncus arteriosus (PTA) in which septation does not form between the aorta and pulmonary trunk...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346297/exposure-to-mycophenolate-and-fatherhood
#5
Karsten Midtvedt, Stein Bergan, Anna Varberg Reisæter, Bjørn Egil Vikse, Anders Åsberg
BACKGROUND: Mycophenolic acid (MPA) is the active immunosuppressive substance in both mycophenolate mofetil and mycophenolate sodium and it is widely used after organ transplantation. In females taking MPA is teratogenic and may also influence spermatogenesis. There is a lack of knowledge regarding outcome of pregnancies fathered by males exposed to MPA. METHODS: We compared outcomes in pregnancies fathered by renal transplant males per whether they had been exposed to MPA or not at time of conception...
March 22, 2017: Transplantation
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#6
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28345735/-supratentorial-cavernous-malformations-in-an-argentinian-institution-experience-with-surgical-treatment
#7
G E Vergara, A Cervio, M Farez, R Mormandi, S Condomi-Alcorta, J Salvat
INTRODUCTION: Cavernous malformations are vascular malformations of the central nervous system formed by a group of capillaries not covered by pia mater and communicated to the vascular system at very low pressure with very slow flow. Surgery or radiosurgery are the treatment modalities. AIMS: To analyze our results after surgical treatment of supratentorial cavernous malformations, reviewing clinical presentation, surgical indications and postoperative complications...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28345540/epidemiological-features-of-nontraumatic-spontaneous-subarachnoid-hemorrhage-in-china-a-nationwide-hospital-based-multicenter-study
#8
Jian-Ping Song, Wei Ni, Yu-Xiang Gu, Wei Zhu, Liang Chen, Bin Xu, Bin Leng, Yan-Long Tian, Ying Mao
BACKGROUND: Nontraumatic spontaneous subarachnoid hemorrhage (SAH) is associated with a high mortality. This study was conducted to investigate the epidemiological features of nontraumatic spontaneous SAH in China. METHODS: From January 2006 to December 2008, the clinical data of patients with nontraumatic SAH from 32 major neurosurgical centers of China were evaluated. Emergent digital subtraction angiography (DSA) was performed for the diagnosis of SAH sources in the acute stage of SAH (≤3 days)...
April 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28344955/association-of-citalopram-with-congenital-anomalies-a-meta-analysis
#9
Hyun-Hye Kang, Ki Hoon Ahn, Soon-Cheol Hong, Bo Yong Kwon, Eun Hee Lee, Ji-Sung Lee, Min-Jeong Oh, Hai-Joong Kim
OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS: We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' pregnancy', ' birth defects', ' congenital anomalies', and ' malformations' in PubMed, Embase, Web of Science, and the Cochrane Library...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28344607/locally-advanced-adenocarcinoma-of-the-cervix-on-uterus-didelphys-a-case-report
#10
Abel Cordoba, Alexandre Escande, Pauline Comte, Ingrid Fumagalli, Lucie Bresson, Ndaye Mubiayi, Eric Lartigau
In November 2013, a woman with Herlyn-Werner-Wunderlich (HWW) syndrome was diagnosed with a locally advanced left cervical adenocarcinoma. The patient's malformation consisted of two uteri with two cervixes, a obstructed vagina, and a left renal agenesis. Classification FIGO: stage IIIa because of infiltration of the inferior third of the vagina wall. Locoregional management comprised an infrarenal lateral aortic lymphadenectomy followed by concomitant radio-chemotherapy to the pelvic (inguinal, pelvic, and infrarenal para aortic nodes) volumes...
February 2017: Journal of Contemporary Brachytherapy
https://www.readbyqxmd.com/read/28344476/effect-of-pelargonidin-isolated-from-ficus-benghalensis-l-on-phenotypic-changes-in-zebrafish-danio-rerio-embryos
#11
Uday Kundap, Yogini Jaiswal, Rachana Sarawade, Leonard Williams, Mohd Farooq Shaikh
In the present study, the extraction and isolation of Pelargonidin, an anthocyanin compound from stem bark of Ficus benghalensis are described. The study also involves evaluation of the effect of Pelargonidin on phenotypic variations in zebra fish embryos. Extraction and isolation of Pelargonidin were carried out by employing liquid-liquid extraction technique, phytochemical tests, column chromatography, UV and FT-IR. In the zebra fish embryo model, Paclitaxel was employed as a negative control. A series of phenotypic changes in different stages of embryonic development were studied with treatment concentrations of Pelargonidin between 3...
February 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28344181/stereotactic-radiosurgery-for-pediatric-high-grade-brain-arteriovenous-malformations-our-experience-and-review-of-literature
#12
Mohana Rao Patibandla, Dale Ding, Zhiyuan Xu, Jason P Sheehan
INTRODUCTION: Although high-grade AVMs pose a particularly high lifetime hemorrhage risk to pediatric patients (age <18 years), little is known about the treatment outcomes. Therefore, the aim of this retrospective cohort study was to evaluate the outcomes after single-session stereotactic radiosurgery (SRS) for pediatric high-grade AVMs. METHODS: we reviewed baseline and treatment outcomes data from pediatric patient's age less than 18 years with SM Grade IV AVMs treated with SRS in a single session at our institution...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28344176/stereotactic-radiosurgery-for-a-randomized-trial-of-unruptured-brain-arteriovenous-malformations-aruba-eligible-spetzler-martin-grade-i-and-ii-arteriovenous-malformations-a-multicenter-study
#13
Dale Ding, Robert M Starke, Hideyuki Kano, David Mathieu, Paul P Huang, Douglas Kondziolka, Caleb Feliciano, Rafael Rodriguez-Mercado, Luis Almodovar, Inga S Grills, Danilo Silva, Mahmoud Abbassy, Symeon Missios, Gene H Barnett, L Dade Lunsford, Jason P Sheehan
OBJECTIVE: A Randomized Trial of Unruptured Brain Arteriovenous Malformations (ARUBA) found better short-term outcomes after conservative management compared to intervention for unruptured arteriovenous malformations (AVM). However, since Spetzler-Martin (SM) grade I-II AVMs have the lowest treatment morbidity, sufficient follow-up of these lesions may demonstrate a long-term benefit from intervention. The aim of this multicenter, retrospective cohort study is to assess the outcomes after stereotactic radiosurgery (SRS) for ARUBA-eligible SM grade I-II AVMs...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28344003/abnormal-neural-progenitor-cells-differentiated-from-induced-pluripotent-stem-cells-partially-mimicked-development-of-tsc2-neurological-abnormalities
#14
Yaqin Li, Jiqing Cao, Menglong Chen, Jing Li, Yiming Sun, Yu Zhang, Yuling Zhu, Liang Wang, Cheng Zhang
Tuberous sclerosis complex (TSC) is a disease featuring devastating and therapeutically challenging neurological abnormalities. However, there is a lack of specific neural progenitor cell models for TSC. Here, the pathology of TSC was studied using primitive neural stem cells (pNSCs) from a patient presenting a c.1444-2A>C mutation in TSC2. We found that TSC2 pNSCs had higher proliferative activity and increased PAX6 expression compared with those of control pNSCs. Neurons differentiated from TSC2 pNSCs showed enlargement of the soma, perturbed neurite outgrowth, and abnormal connections among cells...
March 15, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#15
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28342993/teratogenic-responses-of-zebrafish-embryos-to-decabromodiphenyl-ether-bde-209-in-the-presence-of-nano-sio2-particles
#16
Shu-Ju Chao, Chin Pao Huang, Pei-Chung Chen, Chihpin Huang
This study investigated the influence of nano-SiO2 particles (nSiO2) on the teratogenic responses of zebrafish embryos to decabromodiphenyl ether (BDE-209). Zebrafish embryos were exposed to BDE-209 in the absence and presence of nSiO2 for 96 h post fertilization (hpf). Results showed that formation of nSiO2-BDE-209 associates promoted both extracellular and intracellular uptake of BDE-209 by zebrafish embryos, thereby increasing the bioconcentration of BDE-209 on the chorion surface and the embryos. Results also showed embryos delay hatching temporarily when co-exposure to BDE-209 and nSiO2 at 60 hpf...
March 20, 2017: Chemosphere
https://www.readbyqxmd.com/read/28342818/intraneural-microcystic-lymphatic-malformation-of-the-ulnar-nerve-at-the-guyon-canal-unusual-cause-of-ulnar-pain-in-a-child
#17
I González Pérez, F Corella Montoya, I Casado Fariñas
We present a case of an unusual cause of ulnar pain on a 9 years old patient. The patient had pain on the ulnar side of the wrist after a fall. MRI showed a poorly defined lesion on the ulnar nerve at Guyońs canal. The initial diagnosis was traumatic neuropathy. Following conservative treatment of symptoms for one year, the pain started again. Therefore, a new MRI was performed were progression of the lesion was observed. Excision of the lesion was performed and the specimen sent for pathologic analysis. The diagnosis was of microcystic lymphatic malformation...
March 22, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28342289/tgf%C3%AE-taz-srf-signaling-regulates-vascular-smooth-muscle-cell-differentiation
#18
Christina Pagiatakis, Dandan Sun, Stephanie Wales Tobin, Tetsuaki Miyake, John C McDermott
Vascular smooth muscle cells (VSMCs) do not terminally differentiate; they modulate their phenotype between proliferative and differentiated states, which is a major factor contributing to vascular diseases. TGFβ signaling has been implicated in inducing VSMC differentiation, although the exact mechanism remains largely unknown. Our goal was to assess the network of transcription factors involved in the induction of VSMC differentiation, and to determine the role of TAZ in promoting the quiescent VSMC phenotype...
March 25, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28342117/otto-mennicke-1876-and-the-first-description-of-skull-base-anomalies-causing-cerebellar-tonsillar-ectopia-one-of-the-first-mentions-of-the-chiari-i-malformation
#19
Fabian N Fries, Philipp Hendrix, Titus J Brinker, Marios Loukas, R Shane Tubbs
INTRODUCTION: Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. CONCLUSIONS: Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke...
March 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28341857/embryonic-defence-mechanisms-against-glucose-dependent-oxidative-stress-require-enhanced-expression-of-alx3-to-prevent-malformations-during-diabetic-pregnancy
#20
Patricia García-Sanz, Mercedes Mirasierra, Rosario Moratalla, Mario Vallejo
Oxidative stress constitutes a major cause for increased risk of congenital malformations associated to severe hyperglycaemia during pregnancy. Mutations in the gene encoding the transcription factor ALX3 cause congenital craniofacial and neural tube defects. Since oxidative stress and lack of ALX3 favour excessive embryonic apoptosis, we investigated whether ALX3-deficiency further increases the risk of embryonic damage during gestational hyperglycaemia in mice. We found that congenital malformations associated to ALX3-deficiency are enhanced in diabetic pregnancies...
March 24, 2017: Scientific Reports
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