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https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#1
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28524264/maternal-occupational-physical-activity-and-risk-for-orofacial-clefts
#2
A J Agopian, Jihye Kim, Peter H Langlois, Laura Lee, Lawrence W Whitehead, Elaine Symanski, Michele L Herdt, George L Delclos
OBJECTIVES: To perform a case-control study of maternal occupational physical activity and risk for orofacial clefts in Texas during 1999-2009. METHODS: We used logistic regression to assess 14 measures of physical activity estimated from a job exposure matrix, using the maternal occupation reported on the birth certificate, among 887 children with cleft lip with or without cleft palate (CLP), 436 children with cleft palate only (CP), and 1932 controls. RESULTS: After adjusting for several potential confounders, seven measures of physical activity (as a categorical and/or continuous variable) were significantly associated with CLP, CP, or both...
May 19, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#3
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#4
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28513979/identification-of-a-de-novo-variant-in-chuk-in-a-patient-with-an-eec-aec-syndrome-like-phenotype-and-hypogammaglobulinemia
#5
Kriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Etienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revencu, Carine E L Carels, Hans van Bokhoven, Huiqing Zhou
The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay...
May 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28512138/factors-predicting-parent-anxiety-around-infant-and-toddler-postoperative-and-pain
#6
Rebecca E Rosenberg, Rachael A Clark, Patricia Chibbaro, H Rhodes Hambrick, Jean-Marie Bruzzese, Chris Feudtner, Alan Mendelsohn
BACKGROUND AND OBJECTIVES: Understanding of parent anxiety and its effect on infant postoperative pain is limited. We sought to identify psychological factors associated with preoperative anxiety for parents of infants and toddlers undergoing elective surgery and to determine whether parent anxiety is associated with child postoperative pain. METHODS: This was a prospective cohort study of consecutively eligible patients aged ≤18 months undergoing craniofacial surgery and their parents...
May 16, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28507866/establishing-content-validity-of-the-cleft-q-a-new-patient-reported-outcome-instrument-for-cleft-lip-palate
#7
Elena Tsangaris, Karen W Y Wong Riff, Tim Goodacre, Christopher R Forrest, Marieke Dreise, Jonathan Sykes, Tristan de Chalain, Karen Harman, Aisling O'Mahony, Andrea L Pusic, Lehana Thabane, Achilleas Thoma, Anne F Klassen
BACKGROUND: The CLEFT-Q is a new patient-reported outcome instrument designed to measure outcomes that matter to patients. The aim of this qualitative study was to establish content validity of the CLEFT-Q in patients who differ by age and culture. METHODS: Patients aged between 6 and 29 years were recruited from plastic surgery clinics in Canada, India, Ireland, the Philippines, the Netherlands and the United States. Healthcare providers and other experts participated in a focus group or provided individual feedback...
April 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#8
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497965/residues-of-alpha-helix-h3-determine-distinctive-features-of-transforming-growth-factor-%C3%AE-3
#9
Shahid M Nayeem, Francesco Oteri, Marc Baaden, Shashank Deep
Transforming growth factors (TGF-βs) are proteins that regulate cell growth by binding to their receptors. TGF-βs are disulfide-linked homo-dimers of 112-residue monomers. Three subtypes of TGF-β are known to be present in human namely TGF-β1, TGF-β2 and TGF-β3. The isoforms are highly similar in terms of their sequences (Figure 1), with TGF-β2 and TGF-β3 sharing 92 % similarity, TGF-β1 and TGF-β3 sharing 87%, and TGF-β1 and TGF-β2 sharing 86%(1). Monomers of TGF-βs are structurally homologous...
May 12, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#10
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497031/the-comparative-study-of-resonance-disorders-for-vietnamese-and-korean-cleft-palate-speakers-using-nasometer
#11
Yu-Jeong Shin, Yongsoo Kim, Hyun-Gi Kim
BACKGROUND: Nasalance is used to evaluate the velopharyngeal incompetence in clinical diagnoses using a nasometer. The aim of this study is to find the nasalance differences between Vietnamese cleft palate children and Korean cleft palate children by measuring the nasalance of five oral vowels. METHODS: Ten Vietnamese cleft palate children after surgery, three Vietnamese children for the control group, and ten Korean cleft palate children after surgery with the same age participated in this experimentation...
December 2017: Maxillofacial Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28496230/invasive-cervical-resorption-and-the-oro-facial-cleft-patient-a-review-and-case-series
#12
A O'Mahony, C McNamara, A Ireland, J Sandy, J Puryer
Introduction Invasive cervical resorption (ICR) has an unknown aetiology, yet it exhibits very aggressive behaviour compared with typical external root resorption, posing a high risk of tooth loss.Aim To investigate the number of patients at the Dublin Cleft Prosthodontic Department with an oro-facial cleft who experienced ICR and to identify any possible aetiological factors.Materials and method A retrospective investigation of all oro-facial cleft patients treated at the Dublin Cleft Prosthodontic Department, St James's Hospital, Dublin...
May 12, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28492758/giant-epignathus-teratoma-discovered-at-birth-a-case-report-and-7-year-follow-up
#13
Cyntia Helena Pereira de Carvalho, Cassiano Francisco Weege Nonaka, Cassandra Teixeira Valle Elias, Rita de Cassia Simões Matheus, Roberto Menezes Bezerra Dias, Lélia Batista de Souza, Leão Pereira Pinto
Teratomas are tumors composed by tissues derived from the three germ cell layers, and they are relatively uncommon in head and neck. The term epignathus has been applied to teratomas from the oropharynx. This paper reports the case of a giant epignathus teratoma discovered at birth, which was successfully managed and followed up for 7 years. A newborn boy presented a polypoid tumor mass exteriorizing through the mouth over a length of 9 cm, with some surface areas resembling skin and others exhibiting hair...
March 2017: Brazilian Dental Journal
https://www.readbyqxmd.com/read/28489962/development-and-validation-of-a-screening-procedure-to-identify-speech-language-delay-in-toddlers-with-cleft-palate
#14
Line Dahl Jørgensen, Elisabeth Willadsen
The purpose of this study was to develop and validate a clinically useful speech-language screening procedure for young children with cleft palate ± cleft lip (CP) to identify those in need of speech-language intervention. Twenty-two children with CP were assigned to a +/- need for intervention conditions based on assessment of consonant inventory using a real-time listening procedure in combination with parent-reported expressive vocabulary. These measures allowed evaluation of early speech-language skills found to correlate significantly with later speech-language performance in longitudinal studies of children with CP...
May 10, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28489234/the-treatment-of-otorrhea-in-children-with-cleft-palate-an-institutional-review
#15
Stephen Nogan, Katie Phillips, Jonathan Grischkan
We conducted a retrospective observational chart review to characterize otorrhea in patients with cleft palate (CP) after tympanostomy tube placement in terms of the bacteria profile, treatment effectiveness, and overall disease burden. A total of 157 patients over 6 years were reviewed. Fifty of the 157 patients (31.8%) experienced postoperative otorrhea. Of the 50 patients with otorrhea, all received topical antibiotics, 30 received oral antibiotics, and 12 received povidone-iodine irrigations. The average duration of otorrhea was 5...
April 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28488057/the-impact-of-rapid-maxillary-expansion-on-maxillary-first-molar-root-morphology-of-cleft-subjects
#16
Lucas Cardinal, Gabriela da Rosa Zimermann, Fausto Medeiros Mendes, Ildeu Andrade, Dauro Douglas Oliveira, Gladys Cristina Dominguez
OBJECTIVES: The aim of this prospective cohort study was to determine the effects of rapid maxillary expansion (RME) on the first molar roots of cleft lip and palate subjects along different root development stages. MATERIALS AND METHODS: Thirty participants with unilateral cleft lip and palate were divided into three groups (n = 10), according to the type of expander used: Hyrax, iMini and Fan-type. A cone beam CT scan was performed before (T1) and 3 months after stabilization of the appliance (T2)...
May 9, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28486747/a-simple-rocker-induced-mechanical-stimulus-upregulates-mineralization-by-human-osteoprogenitor-cells-in-fibrous-scaffolds
#17
Sasima Puwanun, Robin M Delaine Smith, Helen E Colley, Julian M Yates, Sheila MacNeil, Gwendolen C Reilly
Biodegradable electrospun polycaprolactone (PCL) scaffolds can be used to support bone-forming cells and could fill a thin bony defect, such as in cleft palate. Oscillatory fluid flow (OFF) has been shown to stimulate bone production in human progenitor cells in monolayer culture. The aim of this study was to examine whether bone matrix production by primary human mesenchymal stem cells from bone marrow (hBMSC) or jaw periosteal tissue (HJP) could be stimulated using OFF supplied by a standard see-saw rocker...
May 9, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28486694/differential-microrna-expression-in-cultured-palatal-fibroblasts-from-infants-with-cleft-palate-and-controls
#18
Christian Schoen, Jeffrey C Glennon, Shaghayegh Abghari, Marjon Bloemen, Armaz Aschrafi, Carine E L Carels, Johannes W Von den Hoff
Background: The role of microRNAs (miRNAs) in animal models of palatogenesis has been shown, but only limited research has been carried out in humans. To date, no miRNA expression study on tissues or cells from cleft palate patients has been published. We compared miRNA expression in palatal fibroblasts from cleft palate patients and age-matched controls. Material and Methods: Cultured palatal fibroblasts from 10 non-syndromic cleft lip and palate patients (nsCLP; mean age: 18 ± 2 months), 5 non-syndromic cleft palate only patients (nsCPO; mean age: 17 ± 2 months), and 10 controls (mean age: 24 ± 5 months) were analysed with next-generation small RNA sequencing...
May 9, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#19
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28485378/phf8-loss-confers-resistance-to-depression-like-and-anxiety-like-behaviors-in-mice
#20
Ryan M Walsh, Erica Y Shen, Rosemary C Bagot, Anthony Anselmo, Yan Jiang, Behnam Javidfar, Gregory J Wojtkiewicz, Jennifer Cloutier, John W Chen, Ruslan Sadreyev, Eric J Nestler, Schahram Akbarian, Konrad Hochedlinger
PHF8 is a histone demethylase with specificity for repressive modifications. While mutations of PHF8 have been associated with cognitive defects and cleft lip/palate, its role in mammalian development and physiology remains unexplored. Here, we have generated a Phf8 knockout allele in mice to examine the consequences of Phf8 loss for development and behaviour. Phf8 deficient mice neither display obvious developmental defects nor signs of cognitive impairment. However, we report a striking resiliency to stress-induced anxiety- and depression-like behaviour on loss of Phf8...
May 9, 2017: Nature Communications
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