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José Ignacio Fernández-Vigo, Lucía De-Pablo-Gómez-de-Liaño, Bachar Kudsieh, Cristina Fernández-Vigo, José Ángel Fernández-Vigo, Julián García-Feijóo
PURPOSE: To describe the presence of anterior chamber angle (ACA) tissue as an incidental optical coherence tomography (OCT) finding in healthy children. METHODS: For this cross-sectional study, we reviewed Fourier domain OCT images obtained in 422 children as candidates for inclusion in a prior study who visited our clinic for a routine vision test. The presence of angle tissue was assessed in the nasal and temporal quadrants. On tomographies showing angle tissue, several measurements were made including ACA width and trabecular meshwork (TM) length and size...
March 19, 2018: Journal of Glaucoma
Michael Oeverhaus, Margarethe Fischer, Herbert Hirche, Anke Schlüter, Joachim Esser, Anja K Eckstein
BACKGROUND/AIMS: We performed a retrospective analysis to examine clinical results, establish a dose-effect coefficient and analyze the long-term efficacy of tendon elongation with bovine pericardium (Tutopatch®) for surgical correction of severe esotropia, occurring after three-wall orbital decompression for dysthyroid optic neuropathy in patients with Graves' orbitopathy (GO). METHODS: Tendon elongation of the medial rectus muscle (MR) was performed in our institution using an interponate of bovine pericardium in 60 patients (27 underwent unilateral and 33 bilateral surgery)...
March 20, 2018: Strabismus
Claudia Salomone B, Isabel Ogueta C, Carlos Reyes V, Gloria Durán S, Noemí Aguirre, Angélica Wietstruck
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection...
April 1, 2018: Archivos Argentinos de Pediatría
Zusen Ye, Hao Zhang, Lingli Sun, Huan Cai, Yonggang Hao, Zongliang Xu, Zhizhong Zhang, Xinfeng Liu
Elevated C-reactive protein (CRP) levels increase the risk of poor functional disability in patients with ischemic stroke (IS). This study aimed to investigate the association between CRP gene polymorphisms and 3-month functional disability of large artery atherosclerotic (LAA) stroke in Han Chinese. Patients with first-ever LAA IS were prospectively enrolled in Nanjing Stroke Registry Program between August 2013 and October 2015. Five single-nucleotide polymorphisms (SNPs) (rs876537, rs2794520, rs3093059, rs7553007 and rs11265260) in CRP gene related to CRP levels in Asian by genome-wide association study were genotyped...
March 19, 2018: Neuromolecular Medicine
Akemi Wakayama, Yukari Seki, Rika Takahashi, Ikumi Umebara, Fumi Tanabe, Kosuke Abe, Fumiko Matsumoto, Yoshikazu Shimomura
PURPOSE: To examine the role of fusional convergence amplitude in postoperative phoria maintenance in childhood intermittent exotropia [X(T)]. METHODS: The medical records of 29 children aged 15 years or younger (mean age, 10.8 ± 2.4 years) and treated with monocular recession-resection for X(T) were reviewed retrospectively. The patients' fusional convergence amplitude (break point/total amplitudes), physiologic diplopia, and phoria maintenance (presence/absence of phoria maintenance and ability to maintain phoria) were assessed...
March 19, 2018: Japanese Journal of Ophthalmology
Hessa S Alsaif, Arif O Khan, Nisha Patel, Hisham Alkuraya, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Mohammed A Aldahmesh, Fowzan S Alkuraya
Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the penetrance of CYP1B1-related congenital glaucoma remain unanswered. Furthermore, mutations in other genes have been described although their exact contribution and potential genetic interaction, if any, with CYP1B1 mutations are not fully explored. In this study, we employed modern genomic approaches to re-examine CYP1B1-related congenital glaucoma...
March 19, 2018: Human Genetics
Lori B Vincent, Daniel Openden, Joseph A Gentry, Lori A Long, Nicole L Matthews
The school playground provides an ideal opportunity for social inclusion; however, children with autism spectrum disorder (ASD) often struggle to engage in appropriate social interactions in this unstructured environment. Thus, they may spend recess time alone. The FRIEND Playground Program is a structured, play-based intervention aimed at improving social interactions of children with ASD and other social challenges during recess. The current research study employed a multiple baseline across participant design to systematically evaluate whether this intervention yields increased social engagement and initiations with peers during recess...
March 2018: Behavior Analysis in Practice
Karen Rosendahl, Ingvild Sævold Bruserud, Ninnie Oehme, Pétur Benedikt Júlíusson, Laura Tanturri de Horatio, Lil-Sofie Ording Müller, Silvia Magni-Manzoni
Objective: To report novel ultrasound (US) references for the healthy paediatric wrist. Methods: Healthy children and adolescents had an US examination including Doppler, of the right wrist, using a mid-sagittal image through the radiocarpal (RC)/midcarpal (MC) joints. These features were noted: appearances and depth of the recess, with an additional measurement in the flexed position and number of Doppler signals within the recess in close proximity to the joint...
2018: RMD Open
Jing Yuan, Xinshuang Yu, Aihua Wang, Yan Li, Fengjun Liu, Yao Wang, Shanmei Sun, Xiuyang Bing, Yiming Liu, Juan Du
For several years, the cause of autosomal recessive mental retardation has been attributed to the deletion or mutation of a gene named tumor suppressor candidate 3 (TUSC3). Previous research has identified that TUSC3 is a potential tumor suppressor gene in oral epidermoid carcinoma, lung cancer and esophageal cancer. However, to the best of our knowledge, no previously published data has existed on the expression of TUSC3 in gliomas. The present study focused on the expression of TUSC3 in brain gliomas. Additionally, the present study sought to identify he association between TUSC3 expression and the typical clinical and pathological disease manifestations of gliomas...
April 2018: Oncology Letters
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
Alex Echeverría-Vega, Guillermo Chong, Antonio E Serrano, Mariela Guajardo, Olga Encalada, Victor Parro, Yolanda Blanco, Luis Rivas, Kevin C Rose, Mercedes Moreno-Paz, José A Luque, Nathalie A Cabrol, Cecilia S Demergasso
Laguna Negra and Lo Encañado are two oligotrophic Andean lakes forming part of the system fed by meltwater from distinct glacial tongues of the Echaurren glacier in central Chile, which is in a recession period. The recent increase in temperature and decline in precipitation have led to an increase of glacial meltwater and sediments entering these lakes. Although the lacustrine systems are also hydrogeologically connected, the limnology of the lakes is strongly controlled by the surface processes related to the respective sub-watersheds and hydrology...
2018: Frontiers in Microbiology
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
Omar Abidi, Mohammed Haissam, Halima Nahili, Abdessamad El Azhari, Said Hilmani, Abdelhamid Barakat
BACKGROUND: The number of deaths from hemorrhagic strokes is about twice as high than the number of deaths from ischemic strokes. Genetic risk assessment could play important roles in preventive and therapeutic strategies. The present study was aimed to evaluate whether the MTHFR gene polymorphisms could increase the risk of cerebral hemorrhage in Moroccan patients. METHODS: A total of 113 patients with hemorrhagic stroke and 323 healthy controls were included in this case-control study...
March 16, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Abeer T Al Hanaineh, Dina H Hassanein, Sameh H Abdelbaky, Omar M El Zawahry
PURPOSE: Comparing the effects of topical Rimexolone versus Dexamethasone and Rimexolone versus Fluorometholone on the intraocular pressure in children <13 years. METHODS: A total of 40 patients (80 eyes) undergoing bilateral recession strabismus surgery were divided into two groups. Group A included 20 children (40 eyes); for each, one eye was randomized to receive 1% Rimexolone and the fellow eye received 0.1% Dexamethasone. Group B included 20 children (40 eyes); for each, one eye was randomized to receive 1% Rimexolone and the fellow eye received 0...
March 1, 2018: European Journal of Ophthalmology
Dorina Murgulet, Melissa Trevino, Audrey Douglas, Nicholas Spalt, Xinping Hu, Valeriu Murgulet
We conducted a comprehensive analysis of a variety of geochemical data including total alkalinity (TA), dissolved inorganic carbon (DIC), dissolved organic carbon (DOC), major ions, stable isotopes, and submarine groundwater discharge, to understand biogeochemical and hydrologic processes driving the seasonal to annual estuarine buffering capacity in Nueces Bay, Texas. These measurements, together with statistical analysis and geochemical modeling, show large variability of freshwater influence. TA consumption, common to spring seasons, was mainly driven by CaCO3 precipitation and, to some extent, by aerobic respiration...
March 3, 2018: Science of the Total Environment
Rui Zhang, Caihong Huo, Xingning Wang, Bo Dang, Yaning Mu, Yuying Wang
BACKGROUND/AIMS: Published studies indicated that the MTHFR gene polymorphisms C677T and A1298C are associated with congenital heart disease (CHD) risk in children, but obtained inconsistent results. Our study aims to reach a more accurate association between these two polymorphisms and CHD risk. METHODS: Eligible studies were obtained by screening the PubMed, Embase, China National Knowledge Infrastructure, Wan Fang and VIP databases based on designed searching strategy...
March 15, 2018: Cellular Physiology and Biochemistry
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Kalyani Raju, Srinivas Murthy Venkataramappa
Hemochromatosis is an autosomal recessive genetic disorder resulting in increased intestinal absorption of iron and eventually to iron overload. The onset of symptoms is usually seen around 40 years of age. Iron overload causes tissue damage in liver, pancreas, skin, joints, heart, and gonads. Approximately 50% of patients diagnosed with hemochromatosis will have either type 1 or type 2 diabetes mellitus (DM) because of selective beta-cell damage due to iron overload and leads to impaired insulin synthesis, release, and insulin resistance...
January 2018: International Journal of Applied and Basic Medical Research
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 ( TREM2 ) or TYRO protein tyrosine kinase binding protein ( TYROBP ), alternatively named DNAX-activation protein 12 ( DAP12 ), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. TREM2 transmits the signals involved in microglial survival, proliferation, chemotaxis, and phagocytosis...
February 2018: Intractable & Rare Diseases Research
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