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https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#1
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
January 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29331613/internal-carotid-artery-web-as-the-cause-of-recurrent-cryptogenic-ischemic-stroke
#2
Jon Antigüedad-Muñoz, Patricia de la Riva, Gorka Arenaza Choperena, Amaia Muñoz Lopetegi, Naiara Andrés Marín, Gorka Fernández-Eulate, Manuel Moreno Valladares, Maite Martínez Zabaleta
Carotid artery web is considered an exceptional cause of recurrent ischemic strokes in the affected arterial territory. The underlying pathology proposed for this entity is an atypical fibromuscular dysplasia. We present the case of a 43-year-old woman with no cardiovascular risk factors who had experienced 2 cryptogenic ischemic strokes in the same arterial territory within an 11-month period. Although all diagnostic tests initially yielded normal results, detailed analysis of the computed tomography angiography images revealed a carotid web; catheter angiography subsequently confirmed the diagnosis...
January 10, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29331402/tailored-surgical-treatment-of-duodenal-polyposis-in-familial-adenomatous-polyposis-syndrome
#3
Toms Augustin, Maitham A Moslim, Andrew Tang, R Matthew Walsh
BACKGROUND: To review our experience in patients undergoing operative treatment for duodenal polypoisis associated with familial adenomatous polyposis with an emphasis on operative approach and long-term outcomes. METHODS: Duodenal polypoisis associated with familial adenomatous polyposis patients undergoing operative treatment were studied retrospectively excluding patients with preoperative duodenal cancer. RESULTS: Of 767 patients in the database, 63 (8...
January 10, 2018: Surgery
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#4
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29331020/human-phenotypes-caused-by-piezo1-mutations-one-gene-two-overlapping-phenotypes
#5
Silvia Martin-Almedina, Sahar Mansour, Pia Ostergaard
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function...
January 13, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29329878/course-dose-and-stage-dependent-toxic-effects-of-prenatal-dexamethasone-exposure-on-fetal-articular-cartilage-development
#6
Ze Chen, Zhe Zhao, Yunzepeng Li, Xingyu Zhang, Bin Li, Liaobin Chen, Hui Wang
Dexamethasone, a synthetic long-acting glucocorticoid, is routinely used for treating mothers at risk for preterm delivery. However, intrauterine overexposure to glucocorticoids induces low birth weight and cartilage dysplasia in offspring. Also, the "critical window" and safe dose of this treatment are largely unknown. This study investigated the course-, dose-, and stage-dependent toxic effects and the possible mechanisms of prenatal dexamethasone exposure (PDE) on fetal development and articular cartilage development...
January 9, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#7
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29329432/cardiac-surgical-strategy-for-extremely-low-birthweight-infants-with-pulmonary-overcirculation
#8
Takashi Kido, Kyoichi Nishigaki, Yoichi Kawahira, Koji Kagisaki, Kazuki Tanimoto, Eiji Ehara, Yosuke Murakami
OBJECTIVES: This study aimed to review the clinical outcomes of staged cardiac surgery in extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation. METHODS: Six extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation underwent staged cardiac surgery between 2005 and 2017. The median birthweight was 895 g (range 620-990 g), and the median gestational age was 28 weeks (range 23-31 weeks)...
January 9, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29328891/dysplasia-should-not-be-ignored-in-lichenoid-mucositis
#9
L D Rock, D M Laronde, I Lin, M P Rosin, B Chan, B Shariati, L Zhang
Oral lichen planus is categorized as a potentially malignant condition by the World Health Organization; however, some argue that only lichen planus with dysplasia have malignant potential. Many pathologists call lichen planus with dysplasia "dysplasia with lichenoid mucositis (LM)" or "LM with dysplasia." Previous research has shown that certain high-risk patterns of loss of heterozygosity (LOH) in dysplastic lesions are associated with significantly increased cancer risk. However, LM without dysplasia lacks such molecular patterns, supporting the hypothesis that LM, by itself, is not potentially malignant and that only those with dysplasia have malignant potential...
January 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29328889/respiratory-phenotypes-for-preterm-infants-children-and-adults-bronchopulmonary-dysplasia-and-more
#10
Joseph M Collaco, Sharon A McGrath-Morrow
Ongoing advancements in neonatal care since the late 1980's have led to increased numbers of premature infants surviving well beyond the neonatal period. As a result of increased survival, many individuals born preterm manifest chronic respiratory symptoms throughout infancy, childhood and adult life. The archetypical respiratory disease of prematurity, bronchopulmonary dysplasia (BPD), is the second most common chronic pediatric respiratory disease after asthma. However, there are several commonly held misconceptions...
January 12, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29328386/proteomics-based-investigation-of-multiple-stages-of-oscc-development-indicates-that-the-inhibition-of-trx-1-delays-oral-malignant-transformation
#11
Xijuan Chen, Qinchao Hu, Tong Wu, Chunyang Wang, Juan Xia, Linglan Yang, Bin Cheng, Xiaobing Chen
The majority of cases of oral squamous cell carcinoma (OSCC) develop from oral potentially malignant disorders, which have been confirmed to be involved in chronic oxidative stimulation. However, no effective treatment approaches have been used to prevent the development of dysplasia into cancerous lesions thus far. In the present study, a well-established OSCC model was used to detect proteomics profiles at different stages during oral malignant transformation. Of the 15 proteins that were found to be upregulated in both the dysplasia and carcinoma stages, the oxidative stress-associated proteins, thioredoxin-1 (Trx-1), glutaredoxin-1 and peroxiredoxin-2 were note as the proteins with significant changes in expression Trx-1 was identified to be the most significantly upregulated protein in the precancerous stage...
January 3, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29327715/de-novo-pure-erythroid-leukemia-refining-the-clinicopathologic-and-cytogenetic-characteristics-of-a-rare-entity
#12
Erica F Reinig, Patricia T Greipp, April Chiu, Matthew T Howard, Kaaren K Reichard
Per the revised fourth edition World Health Organization classification of acute myeloid leukemia, pure erythroid leukemia is now the sole type of acute erythroid leukemia. The diagnosis of this rare entity is often challenging and the cytologic overlap with non-neoplastic (eg, megaloblastic anemia) and neoplastic entities (eg, other types of acute leukemia and non-hematopoietic malignancies) warrants a significant degree of clinical, laboratory, immunophenotypic, and genetic investigation. Given the limited number of reports of this rare and diagnostically challenging entity, we report detailed clinicopathologic characteristics from 15 patients, the largest series thus far, of primary de novo pure erythroid leukemia to provide further diagnostic insights into this entity and reveal strategies for making the diagnosis...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29327262/risk-of-neoplastic-progression-among-patients-with-an-irregular-z-line-on-long-term-follow-up
#13
David Itskoviz, Zohar Levi, Doron Boltin, Alex Vilkin, Yifat Snir, Rachel Gingold-Belfer, Yaron Niv, Iris Dotan, Ram Dickman
BACKGROUND: Barrett's esophagus (BE) is a known complication of gastroesophageal reflux disease. In a previous study, we described a high prevalence of intestinal metaplasia (IM) in patients with an irregular Z line. However, the clinical importance of this finding is unclear. GOALS: To evaluate the long-term development of BE and relevant complications in patients diagnosed with an irregular Z line, with or without IM, on routine esophago-gastro-duodenoscopy (EGD)...
January 11, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#14
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326119/association-of-mutations-with-morphologic-dysplasia-in-de-novo-acute-myeloid-leukemia-without-2016-who-classification-defined-cytogenetic-abnormalities
#15
Olga K Weinberg, Christopher J Gibson, Traci M Blonquist, Donna Neuberg, Olga Pozdnyakova, Frank Kuo, Benjamin L Ebert, Robert P Hasserjian
Despite improvements in our understanding of the molecular basis of acute myeloid leukemia, the association between genetic mutations with morphologic dysplasia remains unclear. In this study, we evaluated and scored dysplasia in bone marrow specimens from 168 patients with de novo acute myeloid leukemia; none of these patients had 2016 WHO Classification-defined cytogenetic abnormalities. We then performed targeted sequencing of diagnostic bone marrow aspirates for recurrent mutations associated with myeloid malignancies...
January 11, 2018: Haematologica
https://www.readbyqxmd.com/read/29325189/comparison-of-three-methods-to-quantify-laxity-in-the-canine-hip-joint
#16
Bart J G Broeckx, Aldo Vezzoni, Evelien Bogaerts, Mileva Bertal, Tim Bosmans, Emmelie Stock, Dieter Deforce, Luc Peelman, Jimmy H Saunders
OBJECTIVES:  Comparison of PennHIP and a novel method to diagnose hip laxity, called the Vezzoni modified Badertscher distension device technique. METHODS:  In a total of 10 dogs, it was first assessed whether the distraction index (DI) from the PennHIP evaluation center could be reproduced by two individual observers. In the next two steps, the DI measurements made by the individual observers and the PennHIP evaluation center were compared with the laxity index (LI) measured on the Vezzoni modified Badertscher distension device view...
January 2018: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/29325060/pathophysiological-analyses-of-leptomeningeal-heterotopia-using-gyrencephalic-mammals
#17
Naoyuki Matsumoto, Naoki Kobayashi, Natsu Uda, Miwako Hirota, Hiroshi Kawasaki
Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients. Recently, we established a new animal model for analyzing cortical malformations of human TD by utilizing our genetic manipulation technique for gyrencephalic carnivore ferrets. Here we investigated the pathophysiological mechanisms underlying the formation of LGH using our TD ferrets...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29324584/maternal-serum-eye-drops-in-the-management-of-pediatric-persistent-corneal-epithelial-defects-a-case-series
#18
Ashton J Kalhorn, Kirstin L Tawse, Avni A Shah, Jennifer L Jung, Darren G Gregory, Emily A McCourt
PURPOSE: We report our experience with the use of maternally derived serum eye drops as adjunctive treatment in the management of pediatric persistent corneal epithelial defects. METHODS: Five eyes of 4 patients were identified in a retrospective review of pediatric patients with persistent corneal epithelial defects who received maternal serum drops. Diagnoses associated with the defects comprised pontine tegmental cap dysplasia with bilateral cranial nerve V1, V2, V3, and VII palsies; pontine tegmental cap dysplasia with left cranial nerve V1, VII, and VIII palsies; traumatic left cranial nerve II, V1, V2, and VI palsies due to a basilar skull fracture; and Stevens-Johnson syndrome with ocular involvement...
January 10, 2018: Cornea
https://www.readbyqxmd.com/read/29323067/modified-cajal-s-trichrome-stain-as-a-diagnostic-aid-in-the-study-of-epithelial-pathology
#19
Karpagaselvi Sanjai, Anjum Baker, Lokesh Papiah Reddy, Bhavna Pandey
BACKGROUND: Diagnosis of initial epithelial pathology maybe difficult in Squamous Cell Carcinoma (SCC), Carcinoma In Situ and other atypical epithelial malignancies, under routine Haematoxylin and Eosin (H and E) stain. The detection of minor basement membrane alterations in doubtful cases is both time consuming and confusing. AIMS: To evaluate efficacy of Modified Cajal's Trichrome Stain (CTS) in relation to Haematoxylin and Eosin for study of epithelial dysplasia, carcinoma in situ, micro invasive SCC, frank SCC, and SCC in lymph nodes...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29322508/a-novel-homozygous-variant-in-bmpr1b-underlies-acromesomelic-dysplasia-hunter-thompson-type
#20
Asmat Ullah, Muhammad Umair, Dost Muhammad, Muhammad Bilal, Kwanghyuk Lee, Suzanne M Leal, Wasim Ahmad
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7...
January 10, 2018: Annals of Human Genetics
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