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Dysplasia

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https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#1
Georgia Ramantani, Angeliki Stathi, Armin Brandt, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Rudolf Korinthenberg, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
OBJECTIVE: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors. METHODS: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5.1 (standard deviation) years at surgery. All patients but one had a magnetic resonance imaging (MRI)-visible lesion. Resections were parietal in 40%, occipital in 32%, and parietooccipital in 28% cases; 24% patients additionally underwent a resection of the posterior border of the temporal lobe...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098707/descriptive-epidemiology-of-acetabular-dysplasia-the-academic-network-of-conservational-hip-outcomes-research-anchor-periacetabular-osteotomy
#2
Wudbhav N Sankar, Stephen T Duncan, Geneva R Baca, Paul E Beaulé, Michael B Millis, Young-Jo Kim, Christopher L Peters, David A Podeszwa, Perry L Schoenecker, Rafael J Sierra, Ernest L Sink, Daniel J Sucato, Robert T Trousdale, Ira Zaltz, John C Clohisy
BACKGROUND: Periacetabular osteotomy (PAO) is an established treatment for symptomatic acetabular dysplasia, which is a well-recognized cause of hip pain, functional limitations, and secondary osteoarthritis. The purpose of this study was to describe the demographics of patients undergoing PAO, the baseline patient-reported outcome measures for this population, and the types of adjunctive procedures performed at the time of PAO surgery. METHODS: Demographics, disease characteristics, and patient-reported functional measures were prospectively collected from all patients who underwent PAO performed by 12 surgeons from 2008 to 2013...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28098581/timing-of-pavlik-harness-initiation-can-we-wait
#3
Jill E Larson, Anay R Patel, Brian Weatherford, Joseph A Janicki
BACKGROUND: Developmental dysplasia of the hip is effectively treated with a Pavlik harness (PH) within the first 6 months of life. Over 80% of unstable hips in the newborn period will naturally stabilize by 2 months of age. If there is no difference in the effectiveness of initiating PH treatment at 1 week compared with 4 weeks of age, waiting may allow the hips to naturally stabilize and avoid treatment. The purpose of this study is to evaluate whether the timing of PH implementation influences its effectiveness in the treatment of developmental dysplasia of the hip...
January 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28097853/-clinical-and-molecular-study-in-a-family-with-autosomal-dominant-hypohidrotic-ectodermal-dysplasia
#4
Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, Sabrina R Giglio, Ilaria Sani, Sara Bargiacchi, Giovanna Traficante, Emanuele Bellacchio, Gianluca Tadini, Izzet Yavuz, Angela Galeotti, Gabriella Clarich
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097844/-angel-shaped-phalango-epiphyseal-dysplasia-case-report
#5
René Conci, Alicia Oller, Martín Moya, Adriana Echegaray, Donald Frush
We describe a rare and sporadic condition, characterized by swan neck deformity in hands, hip osteoarthritis in adulthood and malformations of the middle phalanges with an angel shape. The patient is a 4 year old boy who suffered hand trauma and on x-ray examination he was diagnosed with angel-shaped phalango-epiphyseal dysplasia. Based on this diagnosis, his mother, who suffered from constant pain in her hips and lower limbs, was diagnosed with this syndrome as well.
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097329/quantifying-disease-progression-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-key-to-advancing-therapy
#6
Wojciech Zareba
No abstract text is available yet for this article.
January 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28097316/evaluation-of-structural-progression-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#7
Thomas P Mast, Cynthia A James, Hugh Calkins, Arco J Teske, Crystal Tichnell, Brittney Murray, Peter Loh, Stuart D Russell, Birgitta K Velthuis, Daniel P Judge, Dennis Dooijes, Ryan J Tedford, Jeroen F van der Heijden, Harikrishna Tandri, Richard N Hauer, Theodore P Abraham, Pieter A Doevendans, Anneline S J M Te Riele, Maarten J Cramer
Importance: Considerable research has described the arrhythmic course of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However, objective data characterizing structural progression, such as ventricular enlargement and cardiac dysfunction, in ARVD/C are relatively scarce. Objectives: To define the extent of structural progression, identify determinants of structural progression, and determine the association between structural progression and electrocardiographic (ECG) changes in patients with ARVD/C...
January 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28094766/matriptase-mediated-cleavage-of-epcam-destabilizes-claudins-and-dysregulates-intestinal-epithelial-homeostasis
#8
Chuan-Jin Wu, Xu Feng, Michael Lu, Sohshi Morimura, Mark C Udey
Congenital tufting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with characteristic intestinal epithelial dysplasia. CTE can be caused by mutations in genes encoding EpCAM, a putative adhesion molecule, and HAI-2, a cell surface protease inhibitor. A similar phenotype occurs in mice whose intestinal epithelial cells (IECs) fail to express the tight junction-associated protein claudin-7. EpCAM stabilizes claudin-7 in IECs, and HAI-2 regulates the cell surface serine protease matriptase, a known modifier of intestinal epithelial physiology...
January 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28094436/cartilage-hair-hypoplasia-with-normal-height-in-childhood-four-patients-with-a-unique-genotype
#9
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28094414/asymmetrical-lumbosacral-transitional-vertebrae-in-dogs-may-promote-asymmetrical-hip-joint-development
#10
Mark A Flückiger, Frank Steffen, Michael Hässig, Joseph P Morgan
OBJECTIVES: This study examines the relationship between the morphology of the lumbosacral transitional vertebra (LTV) and asymmetrical development of the hip joints in dogs. METHODS: A total of 4000 dogs which had been consecutively scored for canine hip dysplasia were checked for the presence of a LTV. A LTV was noted in 138 dogs and classified depending on the morphology of the transverse processes and the degree of contact with the ilium. RESULTS: In dogs with an asymmetrical LTV, the hip joint was significantly more predisposed to subluxation and malformation on the side of the intermediate or sacral-like transverse process (p <0...
January 17, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28094216/mild-to-moderate-dysplasia-at-surgical-margin-is-a-significant-indicator-of-survival-in-patients-with-oral-cancer
#11
Sandhya Gokavarapu, Nagendra Parvataneni, Sreenivasa Pavagada, L M Chandrasekhara Rao, K V Raju, T Subramaneshwar Rao
OBJECTIVE: The objective of this study was to investigate the significance of mild and moderate dysplasia at the surgical margin with regard to survival and locoregional recurrence. STUDY DESIGN: We investigated cases of primary oral squamous cell carcinoma with negative margins retrospectively from the database of a tertiary cancer hospital. All patients had been treated between January 2010 and December 2012, and margin dysplasia was investigated in a multivariate analysis for locoregional recurrence and overall survival...
November 16, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28093271/characterization-and-clinical-validation-of-mcm2-and-top2a-monoclonal-antibodies-in-the-bd-proex%C3%A2-c-assay-an-immunoassay-which-detects-aberrant-s-phase-induction-in-cervical-tissue
#12
Eric P Dixon, Lorraine M King, Ramona Nelson, Stephen G Simkins, Steven L Knapp, George H Brough, Karen L Lenz, Dorian T Henderson, Clark M Whitehead, Janice Hessling, Charlotte A Brown, Douglas P Malinowski
BACKGROUND: The Papanicolaou (Pap) screen has been successful in reducing cervical cancer; but exhibits low sensitivity when detecting cervical dysplasia. Use of molecular biomarkers in Pap tests may improve diagnostic accuracy. DESIGN: Monoclonal antibodies to Minichromosome Maintenance Protein 2 (MCM2) and DNA Topoisomerase II α (TOP2A) were selected for use in IHC based on their ability to differentiate normal from diseased cervical tissues in tissue microarrays...
January 13, 2017: Journal of Immunological Methods
https://www.readbyqxmd.com/read/28092213/cellular-and-molecular-factors-influencing-tendon-repair
#13
Sushmitha Durgam, Matthew Stewart
Tendons are complex, hierarchically organized connective tissues that transmit tensile forces between muscles and tendons. Tendon injuries are among the most common orthopedic problems with long-term disability as a frequent consequence due to prolonged healing time. Further, the repair tissue is of inferior quality, predisposing patients to high rates of recurrence following initial injury. Co-ordinated cellular processes and biological factors under the influence of mechanical loading are involved in tendon healing and our understanding of these events lags behind other musculoskeletal tissues...
January 16, 2017: Tissue Engineering. Part B, Reviews
https://www.readbyqxmd.com/read/28091876/hypermethylation-of-ifn-%C3%AE-in-oral-cancer-tissues
#14
Songbo Tian, Chunyang Jiang, Xiaoqin Liu, Sheng Xu, Zhiyong Zhang, Huizhen Chen, Yinghuai Zhang, Yanping Liu, Dong Ma
OBJECTIVES: The study aimed to evaluate the methylation pattern of the interferon-gamma (IFN-γ) gene in oral cancer tissues compared with normal and benign oral disease tissues. MATERIALS AND METHODS: The oral tissues were gained from the patients of 85 cases of oral squamous cell carcinoma (OSCC), 47 cases of oral dysplastic lesions, and 53 normal biopsies. IFN -γ methylation in oral tissues was verified through methylation-specific polymerase chain reaction (PCR) and DNA sequencing analyses, and the expression levels of IFN-γ messenger RNA (mRNA) and protein were detected using real-time reverse transcription (RT)-PCR and enzyme-linked immunosorbent assays, respectively...
January 13, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28091842/squamous-cell-dysplasia-in-the-proximal-rectum-of-three-patients-treated-for-ulcerative-colitis-on-immunomodulators
#15
James G Connolly, Stephen E Goldstone
BACKGROUND: Anal canal high-grade squamous intraepithelial lesion (HSIL) is the precursor to anal cancer. Immunocompromised patients are at increased risk and disease is usually within 3 cm from the anal verge. High-resolution anoscopy (HRA) with an 8-cm anoscope is used to identify and guide cautery treatment of HSIL. PURPOSE: We report three patients with a long-term history of ulcerative colitis (UC) treated with systemic immunomodulators who developed proximally located rectal HSIL...
January 13, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28091408/novel-mutation-of-cleidocranial-dysplasia-related-frameshift-runt-related-transcription-factor-2-in-a-sporadic-chinese-case
#16
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28090292/a-new-look-at-bronchopulmonary-dysplasia-postcapillary-pathophysiology-and-cardiac-dysfunction
#17
Arvind Sehgal, Andra Malikiwi, Eldho Paul, Kenneth Tan, Samuel Menahem
Pulmonary hypertension (PH) and right ventricular function are the focus of cardiovascular effects of bronchopulmonary dysplasia (BPD). We assessed cardiac indexes reflecting systemic afterload and pulmonary venous back pressure as pathophysiologic factors. Cardiac parameters were measured by conventional echocardiography in 20 preterm infants with severe BPD and compared with those of 10 preterm infants with no BPD and 20 healthy term infants. In infants with severe BPD, PH was noted in 5 (25%) by tricuspid regurgitation Doppler jet ≥2...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28090255/clinical-utility-of-echocardiography-for-the-diagnosis-and-prognosis-in-children-with-bronchopulmonary-dsyplasia
#18
Young Earl Choi, Hwa Jin Cho, Eun Song Song, In Seok Jeong, Namsik Yoon, Young Youn Choi, Jae Sook Ma, Young Kuk Cho
BACKGROUND: Bronchopulmonary dysplasia (BPD) may result in chronic pulmonary artery hypertension and right ventricular (RV) dysfunction. Various echocardiographic assessments of RV dysfunction have been used to determine whether echocardiographic measurements of premature infants with BPD could provide sensitive measures of RV function that correlates with BPD severity. METHODS: Twenty-eight control subjects without BPD (non BPD group), 28 patients with mild BPD, 11 patients with moderate BPD, and six patients with severe BPD underwent echocardiograms with standard measurement such as ejection fraction by M-mode, tricuspid regurgitation pressure gradient, myocardial performance index (MPI) derived from pulse Doppler, and tissue Doppler imaging (TDI) measurements...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28090250/early-detection-for-right-ventricular-dysfunction-in-bronchopulmonary-dysplasia-without-pulmonary-hypertension
#19
EDITORIAL
Jung-Woo Son
No abstract text is available yet for this article.
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28089876/antiarrhythmic-drug-therapy-in-patients-with-arrhythmogenic-dysplasia-cardiomyopathy-is-there-a-role-for-flecainide
#20
EDITORIAL
Hugh Calkins
No abstract text is available yet for this article.
January 12, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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