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https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#1
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27913315/speech-enhancement-based-on-neural-networks-improves-speech-intelligibility-in-noise-for-cochlear-implant-users
#2
Tobias Goehring, Federico Bolner, Jessica J M Monaghan, Bas van Dijk, Andrzej Zarowski, Stefan Bleeck
Speech understanding in noisy environments is still one of the major challenges for cochlear implant (CI) users in everyday life. We evaluated a speech enhancement algorithm based on neural networks (NNSE) for improving speech intelligibility in noise for CI users. The algorithm decomposes the noisy speech signal into time-frequency units, extracts a set of auditory-inspired features and feeds them to the neural network to produce an estimation of which frequency channels contain more perceptually important information (higher signal-to-noise ratio, SNR)...
November 29, 2016: Hearing Research
https://www.readbyqxmd.com/read/27913092/evaluation-of-phonatory-behavior-and-voice-quality-in-patients-with-multiple-sclerosis-treated-with-deep-brain-stimulation
#3
Manfred Pützer, Wolfgang Wokurek, Jean Richard Moringlane
OBJECTIVES: The effect of deep brain stimulation (DBS) on phonatory behavior and voice quality in eight patients with multiple sclerosis (MS) was examined instrumentally and perceptually. The acoustic signals of vowel productions obtained from patients (produced with and without stimulation) and from a group of 16 healthy control speakers were analyzed to prove statistically the changes of phonatory behavior and voice quality. STUDY DESIGN: This is a randomized study...
November 30, 2016: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/27904816/an-unusual-presentation-of-nocardiosis-in-an-allogeneic-transplant-recipient
#4
Uroosa Ibrahim, Amina Saqib, Farhan Mohammad, Terenig Terjanian
Nocardiosis is a rare cause of opportunistic infection post hematopoietic stem cell transplant (HSCT) occurring in about 0.3% of patients. The risk factors include delayed immune reconstitution, prolonged neutropenia, and graft-versus-host disease. The most common site of infection is the lung, followed by the brain and the skin. Concomitant pulmonary and central nervous system (CNS) nocardiosis is an extremely rare entity as presented in our case. We present the case of a 72-year-old male at 137 days post transplant presenting with complaints of headache and slurred speech...
October 17, 2016: Curēus
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#5
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27892923/origin-and-function-of-stomata-in-the-moss-physcomitrella-patens
#6
Caspar C Chater, Robert S Caine, Marta Tomek, Simon Wallace, Yasuko Kamisugi, Andrew C Cuming, Daniel Lang, Cora A MacAlister, Stuart Casson, Dominique C Bergmann, Eva L Decker, Wolfgang Frank, Julie E Gray, Andrew Fleming, Ralf Reski, David J Beerling
Stomata are microscopic valves on plant surfaces that originated over 400 million years (Myr) ago and facilitated the greening of Earth's continents by permitting efficient shoot-atmosphere gas exchange and plant hydration(1). However, the core genetic machinery regulating stomatal development in non-vascular land plants is poorly understood(2-4) and their function has remained a matter of debate for a century(5). Here, we show that genes encoding the two basic helix-loop-helix proteins PpSMF1 (SPEECH, MUTE and FAMA-like) and PpSCREAM1 (SCRM1) in the moss Physcomitrella patens are orthologous to transcriptional regulators of stomatal development in the flowering plant Arabidopsis thaliana and essential for stomata formation in moss...
November 28, 2016: Nature Plants
https://www.readbyqxmd.com/read/27867345/language-impairment-resulting-from-a-de-novo-deletion-of-7q32-1q33
#7
María S Jiménez-Romero, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Antonio Benítez-Burraco
We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27866048/7p22-1-microduplication-syndrome-refinement-of-the-critical-region
#8
Luisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, Arianna Tucci, Marco Baccarin, Susanna Esposito, Donatella Milani
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the refinement of the minimal critical region. Our patient shares several major features of the 7p22.1 duplication syndrome, including craniofacial dysmorphisms and speech and motor delay, but she also presents with renal anomalies...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27863635/cochlear-implantation-of-solid-organ-transplant-patients-receiving-immunosuppressive-therapy
#9
Bushra Ayub, Nancy M Young
OBJECTIVE: To evaluate the incidence of infectious complications and healing problems in cochlear implant (CI) patients receiving immunosuppressive therapy following solid organ transplant. STUDY DESIGN: IRB-approved retrospective chart review of implanted patients. SETTING: Tertiary care children's hospital. METHODS: Seven patients of the more than 1000 implanted during the time period between 1991 and 2014 underwent cochlear implantation while on immunosuppressive therapy after having received a solid organ transplant...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27863036/newborn-hearing-screening-in-prematurity-fate-of-screening-failures-and-auditory-maturation
#10
Hyung Chae Yang, Chung Man Sung, Dong Joo Shin, Yong Beom Cho, Chul Ho Jang, Hyong-Ho Cho
OBJECTIVES: The purpose of this study was to identify delayed auditory maturation and the fate of premature infants who failed the newborn hearing screening (NHS) in neonatal intensive care unit. MATERIALS AND METHODS: A total of 1,375 neonates underwent NHS using the transient evoked otoacoustic emission (TEOAE) in a tertiary hospital between 2007 and 2010 according to the Joint Committee on Infant Hearing Guidelines. In addition, a structured telephone survey was given to caregivers of infants who were lost to follow-up NHS...
November 12, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27861194/cochlear-implantation-in-m%C3%A3-ni%C3%A3-re-s-disease-with-and-without-labyrinthectomy
#11
Payal Mukherjee, Kate Eykamp, Daniel Brown, Ian Curthoys, Sean Flanagan, Nigel Biggs, Celene McNeill, William Gibson
OBJECTIVE: To investigate outcomes of cochlear implantation (CI) in patients with Ménière's disease (MD) with and without surgical labyrinthectomy. STUDY DESIGN: Retrospective study. SETTING: Multiple tertiary referral centers. SUBJECTS: Thirty one ears from 27 patients (17 men, 10 women, aged 42-84) with CI in ipsilateral MD ear. INTERVENTION: CI in ears with intact labyrinths (Group 1), CI with simultaneous surgical labyrinthectomy (Group 2), and CI sequential to surgical labyrinthectomy (Group 3)...
November 16, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#12
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tak Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27857809/delayed-speech-hyperactivity-and-coarse-facies-does-sanfilippo-syndrome-come-to-mind
#13
Ayşe Kartal
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856964/neonatal-satellite-cells-form-small-myotubes-in-vitro
#14
P L Carvajal Monroy, S Grefte, A M Kuijpers-Jagtman, J W Von den Hoff, F A D T G Wagener
Although palatal muscle reconstruction in patients with cleft palate takes place during early childhood, normal speech development is often not achieved. We hypothesized that the intrinsic properties of head satellite cells (SCs) and the young age of these patients contribute to the poor muscle regeneration after surgery. First, we studied the fiber type distribution and the expression of SC markers in ex vivo muscle tissue from head (branchiomeric) and limb (somite-derived) muscles from neonatal (2-wk-old) and young (9-wk-old) rats...
November 16, 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27843043/hyperekplexia-report-on-phenotype-and-genotype-of-16-jordanian-patients
#15
Amira Masri, Seo-Kyung Chung, Mark I Rees
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015...
November 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27836357/does-the-ex-utero-intrapartum-treatment-to-extracorporeal-membrane-oxygenation-procedure-change-morbidity-outcomes-for-high-risk-congenital-diaphragmatic-hernia-survivors
#16
Hester F Shieh, Jay M Wilson, Catherine A Sheils, C Jason Smithers, Virginia S Kharasch, Ronald E Becker, Mollie Studley, Donna Morash, Terry L Buchmiller
PURPOSE: In high-risk congenital diaphragmatic hernia (CDH), significant barotrauma or death can occur before extracorporeal membrane oxygenation (ECMO) can be initiated. We previously examined ex utero intrapartum treatment (EXIT)-to-ECMO in our most severe CDH patients, but demonstrated no survival advantage. We now report morbidity outcomes in survivors of this high-risk cohort to determine whether EXIT-to-ECMO conferred any benefit. METHODS: All CDH survivors with <15% predicted lung volume (PPLV) from September 1999 to December 2010 were included...
October 25, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27832679/-do-early-cochlear-implanted-toddlers-show-a-better-speech-development-than-later-implanted-children
#17
K Kral, R Lang-Roth, N Hilger, B Streicher
Objective: Long term goal in early cochlea implantation in children without any additional disabilities is an age-appropriate speech development. Material and Methods: Speech development in deaf children with cochlear-implant(s) (n=60) was examined with the german language test battery SETK-2 ("Sprachentwicklungstest für 2-jährige Kinder") 2 years after first mapping of the speech processor. Results: More than 68% of the subjects show in all 4 subtests hearing-age equivalent results in receptive and expressive language...
November 10, 2016: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/27825145/constitutional-chromoanagenesis-of-distal-13q-in-a-young-adult-with-recurrent-strokes
#18
Rachel D Burnside, April Harris, Darrow Speyer, W Scott Burgin, David Z Rose, Amarilis Sanchez-Valle
Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals. While rare, these phenomena have likely been underestimated in a constitutional setting as technologies that can accurately detect such complexity are relatively new to the mature field of clinical cytogenetics. G-banding is not likely to accurately identify chromoanasynthesis or chromothripsis, since the banding patterns of chromosomes are likely to be misidentified or oversimplified due to a much lower resolution...
November 9, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27824740/seven-patients-with-transcobalamin-deficiency-diagnosed-between-2010-and-2014-a-single-center-experience
#19
Zuhal K Yildirim, Ebba Nexo, Tony Rupar, Mustafa Büyükavci
Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. We report the clinical and laboratory manifestations of 7 children diagnosed with transcobalamin deficiency. All patients were admitted between 2 and 4 months of age with anemia, thrombocytopenia, and hyperhomocysteinemia. The most common complaints at admission were pallor, weakness, and poor feeding. Genetic analysis was performed in 5 patients and it revealed the same homozygous mutation...
November 5, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27819648/evaluation-of-the-relationship-between-the-air-bone-gap-and-prolonged-abr-latencies-in-mixed-type-hearing-loss
#20
Ömer Faruk Birkent, Turgut Karlıdağ, Figen Başar, Şinasi Yalçın, İrfan Kaygusuz, Erol Keleş, Abdulvahap Akyiğit
OBJECTIVE: The aim of this study was to determine the air-bone gaps in adults with mixed-type hearing loss using air-conduction auditory brainstem response (ABR) latencies. MATERIALS AND METHODS: Thirty adults with mixed-type hearing loss (study group) and 30 adults with normal hearing (control group) were included in this study. Before performing ABR measurements, ear, nose, and throat examinations, pure tone audiometry, speech audiometry, acoustic immittance audiometry, and transient evoked autoacoustic emission testing were performed for all participants...
November 7, 2016: Journal of International Advanced Otology
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