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https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#1
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27914140/comparison-of-the-mortality-and-in-hospital-outcomes-of-preterm-infants-treated-with-ibuprofen-for-patent-ductus-arteriosus-with-or-without-clinical-symptoms-attributable-to-the-patent-ductus-arteriosus-at-the-time-of-ibuprofen-treatment
#2
Hani Yoo, Jin A Lee, Sohee Oh, Young Hwa Jung, Jin A Sohn, Seung Han Shin, Chang Won Choi, Ee Kyung Kim, Han Suk Kim, Beyong Il Kim
The aim of this study was to assess the differences in the mortality and in-hospital outcomes of preterm infants with < 28 weeks of gestation who received ibuprofen treatment according to the presence of clinical symptoms (any of oliguria, hypotension, or moderate to severe respiratory difficulty) attributable to hemodynamically-significant patent ductus arteriosus (hsPDA) at the time of first ibuprofen treatment. In total, 91 infants born from April 2010 to March 2015 were included. Fourteen infants (15...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27913427/intermittent-hypoxia-during-recovery-from-neonatal-hyperoxic-lung-injury-causes-long-term-impairment-of-alveolar-development-a-new-rat-model-of-bpd
#3
Anastasiya Mankouski, Crystal Kantores, Mathew J Wong, Julijana Ivanovska, Amish Jain, Eric J Benner, Stanley N Mason, A Keith Tanswell, Richard L Auten, Robert P Jankov
Bronchopulmonary dysplasia (BPD) is a chronic lung injury characterized by impaired alveologenesis that may persist into adulthood. Rat models of BPD using varying degrees of hyperoxia to produce injury either cause early mortality or spontaneously recover following removal of the inciting stimulus, thus limiting clinical relevance. We sought to refine an established rat model induced by exposure to 60% O2 from birth by following hyperoxia with intermittent hypoxia (IH). Rats exposed from birth to air or 60% O2 until day 14 were recovered in air with or without IH (FiO2 = 0...
December 2, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27909861/surgical-reconstruction-for-fibular-hemimelia
#4
REVIEW
Dror Paley
Fibular hemimelia presents with foot deformity and leg length discrepancy. Previous classifications have focused on the degree of fibular deficiency rather than the type of foot deformity. Published methods of surgical reconstruction have often failed due to residual or recurrent foot deformity. The purpose of this report is to introduce new classification and reconstruction methods. The Paley SHORDT procedure is used to stabilize the ankle when there is a hypoplastic distal fibula with a dynamic valgus deformity...
December 1, 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27909515/myocardial-biopsy-in-idiopathic%C3%A2-atrial-fibrillation-and-other-arrhythmias-nosological-diagnosis-clinical-and-morphological-parallels-and-treatment
#5
O V Blagova, A V Nedostup, E A Kogan, V A Sulimov, S A Abugov, A G Kupriyanova, V A Zaydenov, A E Donnikov, E V Zaklyazminskaya, E A Okisheva
BACKGROUND: The nosological nature of "idiopathic" arrhythmias and the effect of etiotropic and pathogenetic treatment are often unknown. METHODS AND RESULTS: 19 patients (42.6±11.3 years, 9 women) with atrial fibrillation (n = 16), supraventricular (n = 10) and ventricular (n = 4) premature beats, supraventricular (n = 2) and ventricular tachycardia (n = 1), left bundle branch block (n= 2), AV block (n = 2) without structural heart changes. Viruses were identified (polymerase chain reaction, PCR) along with measurement of anti-heart antibodies (AHA) and endomyocardial biopsy (EMB)...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27908652/antibiotic-exposure-and-risk-for-death-or-bronchopulmonary-dysplasia-in-very-low-birth-weight-infants
#6
Joseph B Cantey, Landon W Huffman, Abirami Subramanian, Anderson S Marshall, A Rebecca Ballard, Cassandra Lefevre, Malvika Sagar, Jessica E Pruszynski, Lea H Mallett
We assessed the association between antibiotic exposure in the first 2 weeks of life and development of bronchopulmonary dysplasia in a cohort of very low birth weight infants. After controlling for the severity of illness, each additional day of antibiotic therapy was associated with both an increased risk for and severity of bronchopulmonary dysplasia.
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27908648/interdisciplinary-care-of-children-with-severe-bronchopulmonary-dysplasia
#7
Steven H Abman, Joseph M Collaco, Edward G Shepherd, Martin Keszler, Milenka Cuevas-Guaman, Stephen E Welty, William E Truog, Sharon A McGrath-Morrow, Paul E Moore, Lawrence M Rhein, Haresh Kirpalani, Huayan Zhang, Linda L Gratny, Susan K Lynch, Jennifer Curtiss, Barbara S Stonestreet, Robin L McKinney, Kevin C Dysart, Jason Gien, Christopher D Baker, Pamela K Donohue, Eric Austin, Candice Fike, Leif D Nelin
No abstract text is available yet for this article.
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27908632/risk-of-persistent-and-recurrent-cervical-neoplasia-following-incidentally-detected-adenocarcinoma-in-situ
#8
Aime Munro, Jim Codde, Katrina Spilsbury, Nerida Steel, Colin J R Stewart, Stuart G Salfinger, Jason Tan, Ganendra R Mohan, Yee Leung, James Semmens, Peter O'Leary, Vincent Williams, Paul A Cohen
BACKGROUND: Adenocarcinoma-in-situ (AIS) of the uterine cervix is a precursor to cervical adenocarcinoma and may co-exist with both adenocarcinoma and high-grade squamous dysplasia (cervical intraepithelial neoplasia (CIN) 2 and 3). Up to 60% of AIS lesions are detected incidentally following excisional biopsies performed for the treatment of CIN 2/3. To date there are no data regarding risk factors for persisting or progressive cervical neoplasia in these patients. OBJECTIVE: To investigate patient outcomes following incidentally detected cervical AIS after loop electrosurgical excision procedure (LEEP) or cold knife cone (CKC) biopsy performed for the treatment of high-grade cervical intraepithelial neoplasia (CIN)...
November 28, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27908600/adenoma-recurrence-after-piecemeal-colonic-emr-is-predictable-the-sydney-emr-recurrence-tool
#9
David J Tate, Lobke Desomer, Amir Klein, Gregor Brown, Luke F Hourigan, Eric Yt Lee, Alan Moss, Donald Ormonde, Spiro Raftopoulos, Rajvinder Singh, Stephen J Williams, Simon Zanati, Karen Byth, Michael J Bourke
BACKGROUND AND AIMS: Endoscopic mucosal resection (EMR) is the primary treatment of large laterally spreading colonic lesions (LSL). Residual or recurrent adenoma (RRA) is a major limitation. We aimed to identify a robust method to stratify risk of RRA. METHODS: Prospective multicenter data on consecutive LSL ≥ 20mm removed by piecemeal EMR from eight Australian tertiary centers was included (September 2008 until May 2016). A logistic regression model for endoscopically determined recurrence (EDR) was created on a randomly selected half of the cohort to yield the Sydney EMR Recurrence Tool (SERT), a 4-point score to stratify the incidence of RRA based on characteristics of the index EMR...
November 28, 2016: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/27906680/chemopreventive-effects-of-5-aminosalicylic-acid-on-inflammatory-bowel-disease-associated-colorectal-cancer-and-dysplasia-a-systematic-review-with-meta-analysis
#10
Xinyun Qiu, Jingjing Ma, Kai Wang, Hongjie Zhang
BACKGROUND AND AIMS: The chemopreventive effect of 5-aminosalicylic acid (5-ASA) in patients with inflammatory bowel disease (IBD) has been widely studied; however, the results remain conflicting. The aim of this study was to systematically review the literature and update evidence concerning effects of 5-ASA on the risk of colorectal cancer (CRC) and dysplasia (Dys) in patients with ulcerative colitis (UC) or Crohn's disease (CD). RESULTS: 5-ASA showed a chemopreventive effect against CRC/Dys in IBD patients (OR = 0...
November 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/27905846/early-elevation-of-plasma-periostin-is-associated-with-chronic-ventilator-dependent-bronchopulmonary-dysplasia
#11
Shawn K Ahlfeld, Stephanie D Davis, Katherine J Kelley, Brenda B Poindexter
No abstract text is available yet for this article.
December 1, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27905410/association-between-preterm-brain-injury-and-exposure-to-chorioamnionitis-during-fetal-life
#12
Devasuda Anblagan, Rozalia Pataky, Margaret J Evans, Emma J Telford, Ahmed Serag, Sarah Sparrow, Chinthika Piyasena, Scott I Semple, Alastair Graham Wilkinson, Mark E Bastin, James P Boardman
Preterm infants are susceptible to inflammation-induced white matter injury but the exposures that lead to this are uncertain. Histologic chorioamnionitis (HCA) reflects intrauterine inflammation, can trigger a fetal inflammatory response, and is closely associated with premature birth. In a cohort of 90 preterm infants with detailed placental histology and neonatal brain magnetic resonance imaging (MRI) data at term equivalent age, we used Tract-based Spatial Statistics (TBSS) to perform voxel-wise statistical comparison of fractional anisotropy (FA) data and computational morphometry analysis to compute the volumes of whole brain, tissue compartments and cerebrospinal fluid, to test the hypothesis that HCA is an independent antenatal risk factor for preterm brain injury...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905061/one-third-of-hips-after-periacetabular-osteotomy-survive-30-years-with-good-clinical-results-no-progression-of-arthritis-or-conversion-to-tha
#13
Till Dominic Lerch, Simon Damian Steppacher, Emanuel Francis Liechti, Moritz Tannast, Klaus Arno Siebenrock
BACKGROUND: Since its first description in 1984, periacetabular osteotomy (PAO) has become an accepted treatment for hip dysplasia. The 30-year survivorship with this procedure has not been reported. Because these patients are often very young at the time of surgery, long-term followup and identification of factors associated with poor outcome could help to improve patient selection. QUESTIONS/PURPOSES: Looking at the initial group of patients with hip dysplasia undergoing PAO at the originator's institution, we asked: (1) What is the cumulative 30-year survival rate free from conversion to THA, radiographic progression of osteoarthritis, and/or a Merle d'Aubigné-Postel score < 15? (2) Did hip function improve and pain decrease? (3) Did radiographic osteoarthritis progress? (4) What are the factors associated with one or more of the three endpoints: THA, radiographic progression of osteoarthritis, and/or Merle d'Aubigné-Postel score < 15? METHODS: We retrospectively evaluated the first 63 patients (75 hips) who underwent PAO for hip dysplasia between 1984 and 1987...
November 30, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27904917/evaluating-skeletal-dysplasias-on-prenatal-ultrasound-an-emphasis-on-predicting-lethality
#14
REVIEW
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis...
December 1, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27904825/can-acetazolamide-be-used-to-treat-diseases-involving-increased-bone-mineral-density
#15
Juan David González-Rodríguez, María Isabel Luis-Yanes, Esther Inglés-Torres, Pedro Arango-Sancho, José Eugenio Cabrera-Sevilla, María Rosario Duque-Fernández, Salvador Gil-Sánchez, Víctor Manuel García-Nieto
Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904790/current-concepts-in-the-treatment-of-gross-patellofemoral-instability
#16
Grant Buchanan, LeeAnne Torres, Brian Czarkowski, Charles E Giangarra
: Patellofemoral instability is a painful and commonly recurring condition, which often must be managed surgically. Diagnosis can be aided by the use of a variety of physical exam signs, such as the Q angle, Beighton hypermobility score, glide test, J sign, patellar tilt test, and apprehension test. Imaging modalities including x-ray, CT, and MRI guide both diagnosis and management by revealing trochlear dysplasia, bony malalignment, and ligamentous injury that contribute to instability...
December 2016: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/27904587/inhaled-nitric-oxide-in-preterm-infants-an-updated-meta-analysis
#17
REVIEW
Yang Yang, Yun Feng, Xiao-Guang Zhou, Jing-Jing Pan, Xiao-Yu Zhou
BACKGROUND: In the past several years, randomized controlled trials (RCTs) have indicated that inhaled nitric oxide (iNO) can potentially lower for both the incidence of bronchopulmonary dysplasia (BPD) and mortality in affected infants. Other research has, however, disagreed with these findings. MATERIALS AND METHODS: We performed an updated meta analysis of all relevant RCTs to assess the benefits of iNO in preterm infants by searching PubMed, EMBASE, Cochrane databases, Wanfang, VIP, and CNKI databases for English and Chinese references...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27904288/acquired-dermal-melanocytosis-occurring-in-a-patient-with-hypohidrotic-ectodermal-dysplasia
#18
Dong Ju Hyun, Dong Hyun Kim, Moon Soo Yoon, Hee Jung Lee
No abstract text is available yet for this article.
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27901512/mitochondrial-dysfunction-in-alveolar-and-white-matter-developmental-failure-in-premature-infants
#19
Vadim S Ten
At birth, some organs in premature infants are not developed enough to meet challenges of the extra-uterine life. Although growth and maturation continues after premature birth, postnatal organ development may become sluggish or even arrested, leading to organ dysfunction. There is no clear mechanistic concept of this postnatal organ developmental failure in premature neonates. This review introduces a concept-forming hypothesis: Mitochondrial bioenergetic dysfunction is a fundamental mechanism of organs maturation failure in premature infants...
November 30, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27901232/reliability-of-overbite-depth-indicator-odi-and-anteroposterior-dysplasia-indicator-apdi-in-the-assessment-of-different-vertical-and-sagittal-dental-malocclusions-a-receiver-operating-characteristic-roc-analysis
#20
Farheen Fatima, Mubassar Fida, Attiya Shaikh
Introduction: Differential diagnosis of skeletal and dental relationships is crucial for planning orthodontic treatment. Overbite depth indicator (ODI) and anteroposterior dysplasia indicator (APDI) had been introduced in the past for assessment of vertical and sagittal jaw relationships, respectively. Objective: The objectives of this study were to evaluate the reliability of ODI and APDI in overbite and Angle malocclusions, as well as assess their diagnostic reliability among males and females of different age groups...
September 2016: Dental Press Journal of Orthodontics
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