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https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#1
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812466/florid-intussusceptive-like-microvascular-dysangiogenesis-in-a-preterm-lung
#2
Monique E De Paepe, Merline Kocheekkaran V Benny, Lauren Priolo, Francois I Luks, Svetlana Shapiro
The cellular mechanisms underlying the microvascular dysangiogenesis of bronchopulmonary dysplasia (chronic lung disease of the newborn) remain largely undetermined. We report unusual pulmonary vascular findings in a 27-week-gestation male newborn who died on the second day of life from intractable respiratory failure, following a pregnancy complicated by prolonged membrane rupture and persistent severe oligohydramnios. As expected, postmortem examination revealed pulmonary hypoplasia (lung/body weight ratio: 2...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#3
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811707/myo-inositol-reduces-%C3%AE-catenin-activation-in-colitis
#4
Emily M Bradford, Corey A Thompson, Tatiana Goretsky, Guang-Yu Yang, Luz M Rodriguez, Linheng Li, Terrence A Barrett
AIM: To assess dietary myo-inositol in reducing stem cell activation in colitis, and validate pβ-catenin(S552) as a biomarker of recurrent dysplasia. METHODS: We examined the effects of dietary myo-inositol treatment on inflammation, pβ-catenin(S552) and pAkt levels by histology and western blot in IL-10(-/-) and dextran sodium sulfate-treated colitic mice. Additionally, we assessed nuclear pβ-catenin(S552) in patients treated with myo-inositol in a clinical trial, and in patients with and without a history of colitis-induced dysplasia...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28811703/barrett-s-oesophagus-current-controversies
#5
REVIEW
Chidi Amadi, Piers Gatenby
Oesophageal adenocarcinoma is rapidly increasing in Western countries. This tumour frequently presents late in its course with metastatic disease and has a very poor prognosis. Barrett's oesophagus is an acquired condition whereby the native squamous mucosa of the lower oesophagus is replaced by columnar epithelium following prolonged gastro-oesophageal reflux and is the recognised precursor lesion for oesophageal adenocarcinoma. There are multiple national and society guidelines regarding screening, surveillance and management of Barrett's oesophagus, however all are limited regarding a clear evidence base for a well-demonstrated benefit and cost-effectiveness of surveillance, and robust risk stratification for patients to best use resources...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28810822/gamma-irradiated-%C3%AE-glucan-modulates-signaling-molecular-targets-of-hepatocellular-carcinoma-in-rats
#6
Sawsan M Elsonbaty, Walid E Zahran, Fatma Sm Moawed
β-glucans are one of the most abundant forms of polysaccharides known as biological response modifiers which influence host's biological response and stimulate immune system. Accordingly, this study was initiated to evaluate irradiated β-glucan as a modulator for cellular signaling growth factors involved in the pathogenesis of hepatocellular carcinoma in rats. Hepatocellular carcinoma was induced with 20 mg diethylnitrosamine/kg BW. Rats received daily by gastric gavage 65 mg irradiated β-glucan/kg BW. It was found that treatment of rats with diethylnitrosamine induced hepatic injury and caused significant increase in liver injury markers with a concomitant significant increase in both hepatic oxidative and inflammatory indices: alpha-fetoprotein, interferon gamma, and interleukin 6 in comparison with normal and irradiated β-glucan-treated groups...
August 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28810115/current-guidelines-on-syncope
#7
Maheedhar Gedela, Naveen Rajpurohit, Kashif A Shaikh, Muhammad Omar, Scott Pham
Syncope is a very commonly encountered clinical problem in general practice and in the emergency department. In the evaluation of syncope, it is important to identify the specific cause to determine the treatment, to estimate the precise risk to a patient, and to reduce recurrence. Sometimes, making a diagnosis of syncope is difficult, as different mechanisms may often coexist. Syncope causes a significant impact on quality of life due to associated risk of physical injury. In particular, syncope can be a precursor to sudden cardiac death in patients with underlying cardiac disease...
November 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#8
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28807545/bronchopulmonary-dysplasia-myths-of-pharmacologic-management
#9
REVIEW
Steven M Donn
Bronchopulmonary dysplasia (BPD) is the leading cause of long-term respiratory morbidity in newborns who require respiratory support at birth. BPD is a multifactorial disorder, and infants are frequently subjected to treatment with multiple pharmacologic agents of dubious efficacy and questionable safety, including diuretics, bronchodilators, corticosteroids, anti-reflux medications, and pulmonary vasodilators. These agents, with narrow therapeutic indices, are widely used despite the lack of an evidence base, and some may do more harm than good...
August 11, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28807490/fabp1-and-hepar-expression-levels-in-barrett-s-oesophagus-and-associated-neoplasia-in-an-asian-population
#10
Supriya Srivastava, Florian Kern, Neel Sharma, Frank McKeon, Wa Xian, Khay Guan Yeoh, Khek Yu Ho, Ming Teh
INTRODUCTION: Barrett's oesophagus (BE) is a premalignant condition associated with oesophageal adenocarcinoma (EAC). Evidence highlights that EAC is associated with an estimated 5-year survival of approximately 10-15%. Therefore, there is a need to determine which biomarkers are of value in the diagnosis of BE and beyond. The aim of our study was to evaluate the clinical significance of markers known to be expressed across BE and associated neoplasia. METHODS: Retrospective tissues were obtained from columnar lined oesophagus (CLE) without goblet cells (n=22), BE (n=29), dysplasia (n=14), and EAC (n=10)...
July 27, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28807115/correlation-between-hpv-status-via-in-situ-hybridization-testing-on-genital-squamous-papillomas-and-risk-for-cervical-dysplasia-or-other-anogenital-hpv-related-complications-a-case-control-study
#11
Michelle J Duvall, Julie A Maxon, Julia S Lehman
No abstract text is available yet for this article.
September 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28806821/endoscopic-submucosal-dissection-of-colitis-related-dysplasia
#12
Noriko Suzuki, Takashi Toyonaga, James E East
Background and study aims Endoscopic submucosal dissection (ESD) offers en bloc resection of lesions, allowing precise pathological assessment. Although possible in ulcerative colitis (UC) patients, the chronic inflammation may increase the procedural risks and reduce the complete resection rate. The aim of this study was to assess the feasibility of ESD for UC and to consider the factors contributing to its technical difficulty. Patients and methods Multicenter experiences of ESD for UC were retrospectively analyzed by reviewing endoscopic videos, pictures, reports, and clinical notes...
August 14, 2017: Endoscopy
https://www.readbyqxmd.com/read/28806239/18f-fdg-pet-ct-of-secondary-epithelioid-angiosarcoma-of-the-proximal-femur-in-a-patient-with-polyostotic-fibrous-dysplasia
#13
Michiyuki Hakozaki, Hitoshi Yamada, Osamu Hasegawa, Kazuo Watanabe, Shinichi Konno
Fibrous dysplasia rarely transforms into a secondary malignancy. We present the PET/CT findings at pretreatment and posttreatment in an exceedingly rare case of epithelioid angiosarcoma of the bone secondary to polyostotic fibrous dysplasia.
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28806199/does-late-hip-dysplasia-occur-after-normal-ultrasound-screening-in-breech-babies
#14
Andrew R Morris, Joanna M C Thomas, Isabel C Reading, Nicholas M P Clarke
BACKGROUND: Recent literature has raised concern regarding the occurrence of late dysplasia after normal screening in breech babies. One paper states a late dysplasia incidence of 29%. This finding is in contrast with other published work, which suggests breech presentation is predictive of spontaneous stabilization of the unstable neonatal hip. We decided to identify the rate of late dysplasia after normal screening in our patient cohort and also to investigate the use of a prophylactic abduction diaper...
August 11, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28805759/-diagnosis-and-treatment-of-dorsopathy-in-patients-with-connective-tissue-dysplasia
#15
M L Chukhlovina, A A Chukhlovin
AIM: To study the pathogenesis, clinical manifestations and treatment of dorsopathy in patients with connective tissue dysplasia. MATERIAL AND METHODS: Thirty-six patients, aged from 18 to 45 years, with lumbar-sacral radiculopathies associated with connective tissue dysplasia were examined. Detailed neurological examination, X-ray visualization and MRI of lumbosacral spine section, electromyographic assessment were performed. A five-point scale of neuro-vertebrological symptoms, the Numerical Rating Scale (NRS) and the Roland-Morris Low Back Pain and Disability Questionnaire were used...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805541/lack-of-foxe3-coding-mutation-in-a-case-of-congenital-aphakia
#16
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-Hei Sonoda, Hiroyuki Kondo
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment...
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28804898/epilepsy-surgery-of-low-grade-epilepsy-associated-neuroepithelial-tumors-a-retrospective-nationwide-italian-study
#17
Marco Giulioni, Gianluca Marucci, Veronica Pelliccia, Francesca Gozzo, Carmen Barba, Giuseppe Didato, Flavio Villani, Giancarlo Di Gennaro, Pier Paolo Quarato, Vincenzo Esposito, Alessandro Consales, Matteo Martinoni, Gianfranco Vornetti, Corrado Zenesini, Carlo Efisio Marras, Nicola Specchio, Luca De Palma, Raffaele Rocchi, Flavio Giordano, Giovanni Tringali, Paolo Nozza, Gabriella Colicchio, Guido Rubboli, Giorgio Lo Russo, Renzo Guerrini, Paolo Tinuper, Francesco Cardinale, Massimo Cossu
OBJECTIVE: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs). METHODS: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome...
August 14, 2017: Epilepsia
https://www.readbyqxmd.com/read/28804589/spontaneous-coronary-artery-dissection-an-under-recognized-cause-of-acute-coronary-syndromes
#18
Hanan Al Naabi, Hatim Al Lawati
Spontaneous coronary artery dissection (SCAD) is a rare condition that is often underdiagnosed given limitations of conventional cineangiography. In addition to the diagnostic challenge, the condition poses a major therapeutic dilemma given paucity of literature to guide management. We report the case of a 55-year-old woman, who presented with acute coronary syndrome. Coronary angiography at the time of the index hospitalization revealed type 2 SCAD. She was managed conservatively. Repeat coronary angiography three months later showed complete resolution of the previously noted dissection...
July 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28803815/patient-specific-contact-stress-does-not-predict-polyethylene-wear-rate-in-a-specific-pressfit-cup
#19
Georg Matziolis, Linda Krakow, Frank Layher, Klaus Sander, Joerg Bossert, Steffen Brodt
BACKGROUND: The most common reason for revision total hip arthroplasty remains polyethylene wear. Development dysplasia of the hip and revision situations requires a conscious compromise of implant position. The surgeon should know about the consequence on wear via a possible change in hip contact force. The objective of this study is to investigate whether annual wear is dependent on hip contact force. METHODS: Forty-five inserts (DuraLoc, DePuy) that were explanted in our department were included...
July 25, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28803808/two-novel-mutations-p-ser160pro-and-p-arg472cys-causing-glucose-6-phosphate-isomerase-deficiency-are-associated-with-erythroid-dysplasia-and-inappropriately-suppressed-hepcidin
#20
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Saxova, Dagmar Pospisilova, Daniela Prochazkova, Petr Dzubak, Monika Horvathova, Vladimir Divoky
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys)...
April 14, 2017: Blood Cells, Molecules & Diseases
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