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Congenitally blind

Lukas Vogelsang, Sharon Gilad-Gutnick, Evan Ehrenberg, Albert Yonas, Sidney Diamond, Richard Held, Pawan Sinha
Children who are treated for congenital cataracts later exhibit impairments in configural face analysis. This has been explained in terms of a critical period for the acquisition of normal face processing. Here, we consider a more parsimonious account according to which deficits in configural analysis result from the abnormally high initial retinal acuity that children treated for cataracts experience, relative to typical newborns. According to this proposal, the initial period of low retinal acuity characteristic of normal visual development induces extended spatial processing in the cortex that is important for configural face judgments...
October 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
Morgan M Harvey, Joseph W Schmitz
INTRODUCTION: Primary congenital glaucoma is a rare ocular disorder that is responsible for 0.01%-0.04% of total blindness worldwide.1 The goal of congenital glaucoma management is to allow for proper development of the immature visual system by controlling intraocular pressure. Medical therapy usually provides a supportive role to temporarily reduce intraocular pressure, but patients typically require iridocorneal angle surgery to facilitate aqueous humor outflow. In this report, we describe the use of minimally invasive ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma...
October 14, 2018: European Journal of Ophthalmology
Brajesh Kaushal, Sandeep Chauhan, Kulbhushan Saini, Debesh Bhoi, Akshay K Bisoi, Tsering Sangdup, Maroof Ahmad Khan
OBJECTIVE: The aim of this study was to compare the relative efficacy of ultrasound-guided serratus anterior plane block (SAPB), pectoral nerves (Pecs) II block, and intercostal nerve block (ICNB) for the management of post-thoracotomy pain in pediatric cardiac surgery. DESIGN: A prospective, randomized, single-blind, comparative study. SETTING: Single-institution tertiary referral cardiac center. PARTICIPANTS: The study comprised 108 children with congenital heart disease requiring surgery through a thoracotomy...
August 31, 2018: Journal of Cardiothoracic and Vascular Anesthesia
Hidayatullah Hamidi, Nilab Haidary
BACKGROUND: Herlyn-Werner-Wunderlich syndrome is a very rare congenital genitourinary anomaly characterized by uterus didelphys, blind hemivagina and ipsilateral renal agenesis. CASE PRESENTATION: Authors present a case of Herlyn-Werner-Wunderlich syndrome in a 19-year-old unmarried woman who presented with pelvic pain and pelvic mass. MR imaging revealed the typical features of didelphys uterus, obstructed right hemivagina and ipsilateral renal agenesis. The patient subsequently underwent surgery...
October 3, 2018: BMC Women's Health
Shahnawaz M Amdani, Robert D Ross, Paul A Webster, Daniel R Turner, Thomas J Forbes, Daisuke Kobayashi
INTRODUCTION: Reduction of radiation dosage in the pediatric cardiac catheterization laboratory (PCL) is important to reduce the risk of its stochastic effect in children with congenital heart disease. Lowering the frame rate would reduce radiation dosage possibly at the expense of image quality, potentially resulting in higher fluoroscopic time and procedural complication rate. METHODS: The data were retrospectively analyzed in three eras: era 1 (n = 234), cineangiography 30 frames/sec (f/s) and fluoroscopy 15 pulse/sec (p/s); era 2 (n = 381), cineangiography 30 f/s and fluoroscopy 6 p/s; and era 3 (n = 328), cineangiography 15 f/s and fluoroscopy 6 p/s...
October 2, 2018: Congenital Heart Disease
Rabia Afzal, Sabika Firasat, Haiba Kaul, Bashir Ahmed, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Misbah Shahzadi, Kiran Afshan
Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. The aim of the present study was to identify genetic mutations in the CYP1B1 gene in PCG cases belonging to 38 Pakistani families. DNA was extracted using blood samples collected from all enrolled patients, their available unaffected family members and controls...
September 30, 2018: Congenital Anomalies
Max Masthoff, Anne Helfen, Jing Claussen, Angelos Karlas, Niklas A Markwardt, Vasilis Ntziachristos, Michel Eisenblätter, Moritz Wildgruber
Importance: Differential diagnosis of congenital vascular anomalies is challenging, and misdiagnosis is frequent. Vascular malformations are considered one of the most difficult vascular diseases to treat. A new imaging approach that visualizes anatomical features and quantitatively assesses molecular biomarkers noninvasively would aid diagnosis and monitoring of treatment response of vascular malformations. Objective: To evaluate multispectral optoacoustic tomography (MSOT) for noninvasive assessment of molecular biomarkers for diagnosis and therapeutic monitoring of vascular malformations...
September 26, 2018: JAMA Dermatology
Sonia Bakkour, Daniel M Chafets, Li Wen, Marcus O Muench, Sam R Telford, James L Erwin, Andrew E Levin, Deanna Self, Vanessa Brès, Jeffrey M Linnen, Tzong-Hae Lee, Michael P Busch
BACKGROUND: Babesia microti is a parasite that infects red blood cells (RBCs) in mammals. It is transmitted to humans by tick bites, transfusion, organ transplantation, and congenital acquisition. Although the Babesia natural history and seroprevalence in donors have been well described, gaps in knowledge relevant to transfusion remain. STUDY DESIGN AND METHODS: Mice were infected with dilutions of parasitized blood to address the minimal infectious dose and the kinetics of parasitemia by quantitative polymerase chain reaction (qPCR) and of antibodies by enzyme immunoassay...
September 28, 2018: Transfusion
Francesca Maria Russo, Alexandra Benachi, Tim Van Mieghem, Jan De Hoon, Kristel Van Calsteren, Pieter Annaert, Jean-Marc Tréluyer, Karel Allegaert, Jan Deprest
BACKGROUND: Congenital diaphragmatic hernia is an orphan disease with high neonatal mortality and significant morbidity. An important cause for this is pulmonary hypertension, for which no effective postnatal therapy is available to date. An innovative strategy aiming at treating or preventing pulmonary hypertension more effectively is urgently needed. Prenatal sildenafil administration to expectant mothers prevented fetal and neonatal vascular changes leading to pulmonary hypertension in several animal models, and is, therefore, a promising approach...
September 27, 2018: Trials
Francesca Pasutto, Arif Ekici, André Reis, Jan Kremers, Cord Huchzermeyer
BACKGROUND: Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB). Differentiation at early age is desirable due to large differences in prognosis, but may be difficult because phenotypes overlap and electrophysiological testing is challenging in young patients...
September 27, 2018: Ophthalmic Genetics
Valerie Thamrin, Ola D Saugstad, William Tarnow-Mordi, Yueping Alex Wang, Kei Lui, Ian M Wright, Koert De Waal, Javeed Travadi, John P Smyth, Paul Craven, Rowena McMullan, Elisabeth Coates, Meredith Ward, Parag Mishra, Kwee Ching See, Irene G S Cheah, Chin Theam Lim, Yao Mun Choo, Azanna Ahmad Kamar, Fook Choe Cheah, Ahmed Masoud, Ju Lee Oei
OBJECTIVE: To determine rates of death or neurodevelopmental impairment (NDI) at 2 years corrected age (primary outcome) in children <32 weeks' gestation randomized to initial resuscitation with a fraction of inspired oxygen (FiO2 ) value of 0.21 or 1.0. STUDY DESIGN: Blinded assessments were conducted at 2-3 years corrected age with the Bayley Scales of Infant and Toddler Development, Third Edition or the Ages and Stages Questionnaire by intention to treat. RESULTS: Of the 290 children enrolled, 40 could not be contacted and 10 failed to attend appointments...
October 2018: Journal of Pediatrics
Athar Zareei, Mohammad Reza Razeghinejad, Ramin Salouti
The correct estimation of Intraocular Pressure (IOP) is the most important factor in the management of various types of glaucoma. Primary congenital glaucoma is a type of glaucoma that can cause blindness in the absence of control of the IOP. In this retrospective observational study, 95 eyes, including 48 healthy eyes and 47 eyes with Primary Congenital Glaucomatous (PCG) were studied. Two groups were matched for age, gender, and Goldman Applanation Tonometry (GIOP). Corneal Hysteresis (CH), Corneal Resistance Factor (CRF), and Goldman intraocular pressure were measured by ORA (IOPg), and corneal compensated Intraocular Pressure (IOPcc) was measured for each patient using the Ocular Response Analyzer (ORA)...
2018: Medical Hypothesis, Discovery and Innovation in Ophthalmology
Monica Gori, Maria Bianca Amadeo, Claudio Campus
Many works have highlighted enhanced auditory processing in blind individuals, suggesting that they compensate for lack of vision with greater sensitivity of the other senses. Few years ago, we demonstrated severely impaired auditory precision in congenitally blind individuals performing an auditory spatial metric task: their thresholds for bisecting three consecutive spatially distributed sounds were seriously compromised, ranging from three times typical thresholds to total randomness. Here, we show that the deficit disappears if blind individuals are presented with coherent temporal and spatial cues...
August 31, 2018: iScience
Maria A Mavrommatis, Alan H Friedman, Mary E Fowkes, Marco M Hefti
Purpose: To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations. Observations: We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness...
December 2018: American Journal of Ophthalmology Case Reports
Christine M Alvarez, James G Wright, Harpreet Chhina, Alyssa Howren, Peggy Law
BACKGROUND: Congenital idiopathic clubfoot is a condition that affects, on average, approximately 1 in 1,000 infants. One broadly adopted method of management, described by Ponseti, is the performance of a percutaneous complete tenotomy when hindfoot stall occurs. The use of onabotulinum toxin A (BTX-A) along with the manipulation and cast protocol described by Ponseti has been previously reported. Our goal was to compare the clinical outcomes between BTX-A and placebo injections into the gastrocnemius-soleus muscle at the time of hindfoot stall in infants with idiopathic clubfoot treated with the Ponseti method of manipulation and cast changes...
September 19, 2018: Journal of Bone and Joint Surgery. American Volume
Sakib Moghul, Sidath Liyanage, Suresh Vijayananda, Matthew Tam, Ioannis Kapralos
Anatomic variants of the urinary tract are relatively common; however, a bifid ureter with a blind-ending branch is a rare congenital anomaly. This variant often goes unnoticed because patients are either asymptomatic or complain of vague abdominal symptoms. Diagnosis is often incidental, and may be missed on conventional imaging. Although bifid ureters usually do not require any specific investigations or treatment; it is important to have an appreciation for these anomalies particularly if radiological intervention or surgical procedures are planned...
December 2018: Radiology Case Reports
Mahesh Shivanna, Manisha Anand, Subhabrata Chakrabarti, Hemant Khanna
Developing suitable medicines for genetic diseases requires a detailed understanding of not only the pathways that cause the disease, but also the identification of the genetic components involved in disease manifestation. This article focuses on the complexities associated with ocular ciliopathies - a class of debilitating disorders of the eye caused by ciliary dysfunction. Ciliated cell types have been identified in both the anterior and posterior segments of the eye. Photoreceptors (rods and cones) are the most studied ciliated neurons in the retina, which is located in the posterior eye...
September 16, 2018: Current Medicinal Chemistry
Zhou Zhou, Li Li, Lu Lu, Li Min
At present, congenital cataract is the world's leading cause of blindness among children. The aim of the present study was to determine and analyze the genetic disorder associated with a congenital nuclear cataract in a three-generation family of Guangxi Zhuang ethnicity. A total of 3 affected individuals and 5 unaffected family members underwent appropriate comprehensive medical examinations, mainly of the eyes. The white blood cells of the family members were collected and genomic DNA was extracted from 100 healthy individuals, as the control group...
October 2018: Experimental and Therapeutic Medicine
Jordan M Boeck, Gregory A Stowell, Christine M O'Connor, Juliet V Spencer
Human cytomegalovirus (HCMV) is a widespread pathogen that modulates host chemokine signaling during persistent infection in the host. HCMV encodes four proteins with homology to the chemokine receptor family of G protein-coupled receptors (GPCRs): US27, US28, UL33, and UL78. Each of the four receptors modulates host CXCR4 signaling. US28, UL33 and UL78 impair CXCR4 signaling outcomes while US27 enhances signaling, as evidenced by increased calcium mobilization and cell migration to CXCL12. To investigate effects of US27 on CXCR4 during virus infection, fibroblasts were infected with BAC-derived clinical strain HCMV TB40/E- mCherry (WT) or mutants lacking US27 (TB40/E- mCherry -US27Δ) or all four GPCRs (TB40 E- mCherry -allΔ), or expressing only US27, but not US28, UL33, or UL78 (TB40/E- mCherry -US27 wt )...
September 12, 2018: Journal of Virology
M N Preising, C Friedburg, W Bowl, B Lorenz
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction. While the genetic cause of high myopia itself is not well understood, a significant number of cases are secondary to hereditary malfunctions or degenerations of the retina. The mechanism by which this occurs remains yet unclear. Two female siblings, 4 y and 2 y, respectively, from a consanguineous Pakistani family were referred to our department for reduced VA and strabismus. Both girls were highly myopic and hence were further examined using standard clinical tests and electroretinography (ERG)...
2018: BioMed Research International
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