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Congenitally blind

Athanasia Skriapa Manta, Monica Olsson, Ulla Ek, Ronny Wickström, Kristina Teär Fahnehjelm
PURPOSE: The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (ODC). METHODS: This was a population-based, cross-sectional study of 31 children between 2 and 18 years of age diagnosed with ODC. The children were part of a larger cohort of 184 children with congenital optic disc malformations. Clinical ophthalmological examinations, neurological assessments, behavioural and developmental screening were performed...
December 13, 2018: Acta Ophthalmologica
Swarnabh Bhattacharya, Laura Serror, Eshkar Nir, Dalbir Dhiraj, Anna Altshuler, Maroun Khreish, Beatrice Tiosano, Peleg Hasson, Lia Panman, Chen Luxenburg, Daniel Aberdam, Ruby Shalom-Feuerstein
Mutations in key transcription factors SOX2 and P63 were linked with developmental defects and post-natal abnormalities such as corneal opacification, neovascularization and blindness. The latter phenotypes suggest that SOX2 and P63 may be involved in corneal epithelial regeneration. While P63 has been shown to be a key regulator of limbal stem cells (LSCs), the expression pattern and function of SOX2 in the adult cornea remained unclear. Here we show that SOX2 regulates P63 to control corneal epithelial stem/progenitor cell function...
December 10, 2018: Stem Cells
Lisandra Stein Bernardes, Juliana Fontan Ottolia, Marina Cecchini, Antônio Gomes de Amorim Filho, Manoel Jacobsen Teixeira, Rossana Pulcineli Vieira Francisco, Daniel Ciampi de Andrade
Introduction: Although pain facial assessment is routinely performed in term and preterm newborns by the use of facial expression-based tools such as the Neonatal Facial Coding System, the assessment of pain during the intrauterine life has not been extensively explored. Objective: Describe for the first time, an experimental model to assess and quantify responses due to acute pain in fetuses undergoing anaesthesia for intrauterine surgery recorded by high-resolution 4D ultrasound machines...
September 2018: Pain Reports (Baltimore, Md.)
Pulak Sharma, Rahul Verma, Sanjiv Gaur
Background: Ponseti method is the gold standard treatment for idiopathic congenital clubfoot. Pirani clubfoot severity score is a vital tool in assessing treatment of clubfoot. This study determines whether, after a short training in the Pirani scoring, a nonmedical personnel can be as accurate as a doctor in assessing the degree of deformity in clubfoot. Materials and Methods: This was a prospective observational study from January to September 2016. Pirani scoring of all children ≤6 months was done by the counsellor, an orthopedic resident, and a consultant separately...
November 2018: Indian Journal of Orthopaedics
Cedric Manlhiot, Brian W McCrindle, Suzan Williams, Ines B Menjak, Sunita O'Shea, Anthony K Chan, Leonardo R Brandão
OBJECTIVE: To assess the validity of existing clinical scales assessing the presence of physical and functional abnormalities for diagnosing post-thrombotic syndrome (PTS) in children, including specific evaluation of use in children with congenital heart disease (CHD). STUDY DESIGN: One hundred children aged >2 years (average age, 6 years), including 33 with CHD and previously proven extremity deep vein thrombosis (DVT), 37 with CHD and no previous DVT, and 30 healthy siblings, were blindly assessed for PTS using the modified Villalta Scale (MVS)...
December 7, 2018: Journal of Pediatrics
Yutaka Seino, Nobuko Ohashi, Hidekazu Imai, Hiroshi Baba
OBJECTIVE: To examine the authors' hypothesis that during the cardiopulmonary bypass (CPB) in children, the inferior vena cava cannula tip placed proximal to the right hepatic vein orifice would produce a higher venous drainage compared with that placed distally. DESIGN: A prospective, randomized, controlled, double-blind study. SETTING: Single university hospital. PARTICIPANTS: Thirty-two patients aged <6 years, scheduled for elective cardiac surgery using CPB for congenital heart disease...
October 23, 2018: Journal of Cardiothoracic and Vascular Anesthesia
Mingzhe Cao, Jiamin Ouyang, Huilin Liang, Jingyi Guo, Siyuan Lin, Shulan Yang, Ting Xie, Shuyi Chen
Purpose: The optic fissure (OF) is a transient opening in the ventral optic cup (OC) that acts as a passage for blood vessels and retinal ganglion cell axons during early eye development. Failure to close the OF is the developmental basis for uveal coloboma, a congenital blinding eye disease that significantly contributes to childhood blindness. Genes specifically expressed in the OF region may play important roles in OF development and function. The aim of this study was to characterize the transcriptome of OC cells in the OF region and investigate the function of OF-specific genes during OF closure...
December 3, 2018: Investigative Ophthalmology & Visual Science
Sachin Khurana, Michael J Coffey, Alan John, Alessandro D Uboldi, My-Hang Huynh, Rebecca J Stewart, Vern Carruthers, Christopher J Tonkin, Ethan D Goddard-Borger, Nichollas E Scott
Toxoplasma gondii is a ubiquitous, obligate intracellular eukaryotic parasite that causes congenital birth defects, disease in immunocompromised individuals, and blindness. Protein glycosylation plays an important role in the infectivity and evasion of immune responses of many eukaryotic parasites and is also of great relevance to vaccine design. Here, we demonstrate that micronemal protein 2 (MIC2), a motility-associated adhesin of T. gondii, has highly glycosylated thrombospondin repeat (TSR) domains. Using affinity-purified MIC2 and MS/MS analysis along with enzymatic digestion assays, we observed that at least seven C-linked and three O-linked glycosylation sites exist within MIC2, with > 95% occupancy at these O-glycosylation sites...
December 4, 2018: Journal of Biological Chemistry
Dorcas K Tsang, Frank Spors, Jie Shen, Lance E McNaughton, Donald J Egan
Keratoconus is a progressive corneal disease characterized by bilateral yet usually asymmetric thinning of the cornea with an onset typically in teenage years. While it often presents as an isolated condition, keratoconus may also be associated with many systemic and/or ocular diseases, such as connective tissue and chromosomal disorders. Its association with nystagmus has been described in Leber's congenital amaurosis, where patients also exhibit abnormal pupillary responses, early-onset retinal dystrophy, mental developmental delays, and eventual blindness...
2018: Medical Hypothesis, Discovery and Innovation in Ophthalmology
Iordanis Papadopoulos, Evangelia Bountouvi, Achilleas Attilakos, Evangelia Gole, Argirios Dinopoulos, Melpomeni Peppa, Polyxeni Nikolaidou, Anna Papadopoulou
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Bone mineral density (BMD) in OPPG patients was assessed by dual-energy X-ray absorptiometry (DXA)...
November 29, 2018: European Journal of Pediatrics
Machteld M Oud, Brooke L Latour, Zeineb Bakey, Stef J Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A M Cornelissen, Helger G Yntema, Miriam Schmidts, Ronald Roepman, Ernie M H F Bongers
Background: Mainzer-Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated with MZSDS: IFT140, and IFT172 . In this study, we describe a 1-year-old girl presenting with mild skeletal abnormalities, Leber congenital amaurosis, and bilateral hearing difficulties. For establishing an accurate diagnosis, we combined clinical, molecular, and functional analyses...
2018: Cilia
Virginie Crollen, Latifa Lazzouni, Mohamed Rezk, Antoine Bellemare, Franco Lepore, Marie-Pascale Noël, Xavier Seron, Olivier Collignon
Arithmetic reasoning activates the occipital cortex of congenitally blind people (CB). This activation of visual areas may highlight the functional flexibility of occipital regions deprived of their dominant inputs or relate to the intrinsic computational role of specific occipital regions. We contrasted these competing hypotheses by characterizing the brain activity of CB and sighted participants while performing subtraction, multiplication and a control letter task. In both groups, subtraction selectively activated a bilateral dorsal network commonly activated during spatial processing...
November 22, 2018: NeuroImage
Priyanka Misale, Anjali Lepcha
To report a series of adult patients diagnosed with congenital cholesteatoma (CC) with respect to symptoms, different varieties of presentation, surgical findings and approach used, complications and the postoperative results. A retrospective chart review of adult cases of CC who were treated in the period from January 2014-2017 was carried out in a tertiary care center. Levenson's criteria were used for diagnosis. Diagnosis was confirmed by imaging and intraoperatively. Postoperative results and complications were also analyzed...
December 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
Mirena C Astiazarán, Leopoldo A García-Montaño, Francisco Sánchez-Moreno, Humberto Matiz-Moreno, Juan C Zenteno
Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes have been demonstrated to cause the disorder and up to 40% of cases arise from single-gene mutations. Hence, next generation sequencing (NGS) of deoxyribonucleic acid is a suitable approach for CC molecular diagnosis. In this study, we used commercially available inherited disease NGS panels including 50 CC genes for the genetic diagnosis of 11 probands with hereditary CC...
November 18, 2018: American Journal of Medical Genetics. Part A
Kevin C Chan, Matthew C Murphy, Ji Won Bang, Jeffrey Sims, Jasmine Kashkoush, Amy C Nau
Visual cortex functionality in the blind has been shown to shift away from sensory networks toward task-positive networks that are involved in top-down modulation. However, how such modulation is shaped by experience and reflected behaviorally remains unclear. This study evaluates the visual cortex activity and functional connectivity among congenitally blind, acquired blind, and sighted subjects using blood-oxygenation-level-dependent functional MRI during sensory substitution tasks and at rest. We found that primary visual cortex activity due to active interpretation not only depends on the blindness duration, but also negatively associates with behavioral reaction time...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Shipra Kanjlia, Rashi Pant, Marina Bedny
Studies of sensory loss are a model for understanding the functional flexibility of human cortex. In congenital blindness, subsets of visual cortex are recruited during higher-cognitive tasks, such as language and math tasks. Is such dramatic functional repurposing possible throughout the lifespan or restricted to sensitive periods in development? We compared visual cortex function in individuals who lost their vision as adults (after age 17) to congenitally blind and sighted blindfolded adults. Participants took part in resting-state and task-based fMRI scans during which they solved math equations of varying difficulty and judged the meanings of sentences...
November 12, 2018: Cerebral Cortex
Fabio Mosca, Paola Roggero, Francesca Garbarino, Daniela Morniroli, Beatrice Bracco, Laura Morlacchi, Domenica Mallardi, Maria Lorella Gianni, Dario Consonni
BACKGROUND: Among breastfeeding determinants, the marketing of breast milk substitutes might contribute to suboptimal breastfeeding rates. The aim of this study was to investigate the effect of receiving information on breast milk substitutes on breastfeeding rates. METHODS: We conducted a randomized, single-blind, controlled trial from 2012 to 2014 in a northern Italian maternity ward. We enrolled 802 Caucasian mothers who gave birth to healthy, full-term singletons with a birth weight > 2500 g and who were exclusively breastfeeding from delivery to discharge...
November 6, 2018: Italian Journal of Pediatrics
Ameenat Lola Solebo, Phillippa Cumberland, Jugnoo S Rahi
BACKGROUND: International initiatives to prevent childhood blindness have highlighted the importance of early, effective intervention for congenital and infantile cataract. In the UK, intraocular lens implantation has been widely adopted by surgeons to treat these conditions. However, evidence about the benefits and risks of this technique in different age groups is limited. The IoLunder2 study assessed outcomes following primary intraocular lens implantation in children aged 2 years and younger with congenital or infantile cataract...
December 2018: Lancet Child & Adolescent Health
Bonus Makanani, Jennifer E Balkus, Yuqing Jiao, Lisa M Noguchi, Thesla Palanee-Phillips, Yamikani Mbilizi, Jothi Moodley, Kenneth Kintu, Krishnaveni Reddy, Samuel Kabwigu, Nitesha Jeenariain, Ishana Harkoo, Nyaradzo Mgodi, Jeanna Piper, Helen Rees, Rachel Scheckter, Richard Beigi, Jared M Baeten
BACKGROUND: Monthly use of the dapivirine vaginal ring has been shown to be safe and effective for HIV-1 prevention in nonpregnant reproductive-aged women. The impact of dapivirine on pregnancy outcomes and infant is not known. We compared pregnancy incidence and outcomes by study arm among HIV-1-uninfected women who became pregnant while participating in MTN-020/ASPIRE. METHODS: ASPIRE was a randomized, double-blind, placebo-controlled phase III safety and effectiveness study of the dapivirine ring for HIV-1 prevention...
December 15, 2018: Journal of Acquired Immune Deficiency Syndromes: JAIDS
Léo Pomar, Manon Vouga, Véronique Lambert, Céline Pomar, Najeh Hcini, Anne Jolivet, Guillaume Benoist, Dominique Rousset, Séverine Matheus, Gustavo Malinger, Alice Panchaud, Gabriel Carles, David Baud
OBJECTIVES: To estimate the rates of maternal-fetal transmission of Zika virus, adverse fetal/neonatal outcomes, and subsequent rates of asymptomatic/symptomatic congenital Zika virus infections up to the first week of life. DESIGN: Cohort study with prospective data collection and subsequent review of fetal/neonatal outcomes. SETTINGS: Referral centre for prenatal diagnosis of the French Guiana Western Hospital. PARTICIPANTS: Pregnant women at any stage of pregnancy with a laboratory confirmed symptomatic or asymptomatic Zika virus infection during the epidemic period in western French Guiana...
October 31, 2018: BMJ: British Medical Journal
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