keyword
https://read.qxmd.com/read/37873051/submucosal-dissection-to-close-wide-cleft-palate-with-folded-mucoperiosteum-for-bilateral-cleft-lip-and-palate-with-popliteal-pterygium-syndrome
#1
JOURNAL ARTICLE
Shinji Kobayashi, Yuichiro Yabuki, Madoka Sugiyama, Takashi Hirakawa, Kenji Kurosawa
Characteristic features of popliteal pterygium syndrome (PPS) associated with the craniofacial region include cleft palate, syngnathia, and difficulty with reconstruction. We developed a new procedure of submucosal dissection with periosteotomy to close the folded mucosa in bilateral cleft lip and palate patients with PPS. This technique could be applicable for patients with wide cleft palate.
October 2023: Journal of Surgical Case Reports
https://read.qxmd.com/read/37164835/sommerlad-furlow-modified-palatoplasty-a-retrospective-study
#2
JOURNAL ARTICLE
Hanyao Huang, Jingtao Li, Chenghao Li, Heng Yin, Min Wu, Yan Wang, Yang Li, Chao Yang, Ni Zeng, Qian Zheng, Bing Shi
The purpose of this study was to introduce the surgical process of Sommerlad-Furlow modified (S-F) palatoplasty and compare its surgical and functional outcomes with conventional Sommerlad (S) palatoplasty. Patients with non-syndromic cleft palate who had undergone either S-F palatoplasty or S palatoplasty were retrospectively reviewed. Data on the outcomes of velopharyngeal function and postsurgical palatal fistula incidence were collected for all patients. Data for preselected factors, including gender, age at palatoplasty, and cleft type, were also collected...
April 14, 2023: Journal of Cranio-maxillo-facial Surgery
https://read.qxmd.com/read/36315861/nasopharyngeal-presentation-of-a-pharyngeal-cleft-cyst-in-a-dog
#3
JOURNAL ARTICLE
Chloé Job, Pierre Maitre, Delphine Rivière, Mélanie Fine, Mathieu Faucher
A 2 yr old castrated male shih tzu was presented for assessment of worsening chronic snoring since first detected at 3 mo of age. An upper respiratory endoscopic examination and a computed tomographic scan showed a well-circumscribed, fluid-filled nasopharyngeal mass located in the median plane on the nasal side of the soft palate. This lesion was removed using a ventral approach to the nasopharynx by blunt-sharp dissection from the submucosal tissues of the soft palate. Histopathology revealed a cystic lesion lined by a single layer of a pseudostratified columnar ciliated epithelium, characteristic of a pharyngeal cyst...
November 1, 2022: Journal of the American Animal Hospital Association
https://read.qxmd.com/read/35861666/natural-history-of-kbg-syndrome-in-a-large-european-cohort
#4
JOURNAL ARTICLE
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Atallah Isis, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
KBG syndrome is characterised by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterise natural history of KBG syndrome. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array-CGH and NGS approach investigated both genomic CNVs/SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients...
July 21, 2022: Human Molecular Genetics
https://read.qxmd.com/read/35710691/high-incidence-of-cleft-palate-and-vomer-deformities-in-patients-with-eustachian-tube-dysfunction
#5
JOURNAL ARTICLE
Seong Hoon Bae, Jun-Young Kim, Mincheol Jeong, In Seok Moon, Sung Huhn Kim, Jae Young Choi, Jinsei Jung
Although the cleft palate is regarded as a contraindication for Eustachian tube ballooning, the presence of submucosal cleft palate may be overlooked while diagnosing Eustachian tube dysfunction. Therefore, we aimed to determine the incidence of the presence of a hard palate bony notch and vomer defect, which indicate the presence of submucosal cleft palate in patients with Eustachian tube dysfunction. In the Eustachian tube dysfunction group (n = 28), 4 patients (14.3%) exhibited a hard palate bony notch and a concurrent vomer defect...
June 16, 2022: Scientific Reports
https://read.qxmd.com/read/35105779/paper-thin-roof-submucosal-cleft-palate-with-rhinolalia-aperta
#6
JOURNAL ARTICLE
Geng Ju Tuang, Zainal Azmi Zainal Abidin
No abstract text is available yet for this article.
February 2022: Postgraduate Medical Journal
https://read.qxmd.com/read/35015325/vascular-anatomy-of-the-velopharyngeal-muscles-and-its-clinical-implications-a-fresh-cadaveric-study-based-on-micro-computed-tomography
#7
JOURNAL ARTICLE
Jing Liu, Yongqian Wang, Haidong Li, Di Wu, Tao Song, Ningbei Yin
Poor speech improvement after levator veli palatini (LVP) reconstruction may be related to intraoperative vascular injury. We aimed to examine the vascular anatomy of the velopharyngeal muscles to provide a guide for arterial protection in cleft palate repair. Fresh adult cadaveric heads were injected with gelatin/lead oxide. The velopharyngeal specimens were stained with iodine and scanned using micro-computed tomography. Three-dimensional reconstruction models were obtained using a computer-aided design software...
May 2022: Clinical Anatomy
https://read.qxmd.com/read/34992764/soft-palatal-mass-containing-heterotopic-neural-tissue-causing-airway-obstruction-in-a-pierre-robin-sequence-patient
#8
David Z Allen, Lucy X Liu, Kelly Turner, Matthew R Greives, Phuong D Nguyen, Soham Roy
Pierre-Robin sequence (PRS) patients frequently exhibit symptoms of airway obstruction due to multiple etiologies, predominantly from glossoptosis and tongue base obstruction. Rarely, these patients can have palatal mass and even rarer is one of neural origin. To date, there are few reports of heterotopic neural tissue causing airway obstruction in literature, and there are only two reports related to PRS. The objective of this report is to detail a PRS patient with obstructive airway symptoms that resolved after removal of a right-sided soft palatal mass containing heterotopic neural tissue...
December 2021: Journal of Surgical Case Reports
https://read.qxmd.com/read/34824698/clinical-and-epidemiological-profile-of-cleft-lip-and-palate-patients-in-peru-2006-2019
#9
JOURNAL ARTICLE
Claudio Peña-Soto, Luis-Ernesto Arriola-Guillén, Antonio Díaz-Suyo, Javier Flores-Fraile
Background: The purpose of this study was to determine the clinical-epidemiological profile of patients with cleft lip and / or palate in Peru from 2006 to 2019. Material and Methods: This retrospective and cross-sectional study analyzed 3,923 patients with cleft lip and palate attended by surgical missions of the Operación Sonrisa Perú from January 2006 to December 2019. The clinical profile of the patients treated included: type of cleft (cleft lip CL, cleft palate CP, cleft lip and palate CLP and submucosal SM), surgery performed (cheiloplasty, palatoplasty, cleft rhinoplasty, fistula repair, pharyngeal flap), surgical time according to number of interventions...
November 2021: Journal of Clinical and Experimental Dentistry
https://read.qxmd.com/read/34541358/distribution-and-risk-factors-of-cleft-lip-and-palate-on-patients-from-a-sample-of-damascus-hospitals-a-case-control-study
#10
JOURNAL ARTICLE
Louei Darjazini Nahas, Omar Alzamel, Mammdouh Yassin Dali, Rama Alsawah, Ahmad Hamsho, Rafi Sulman, Mohamad Alzamel, Abdullah Omar
OBJECTIVE: This case-control study was conducted to determine the distribution of cleft lip and/or palate, its association with family history, syndromes and serous otitis media (SOM), and its relation with several risk factors. METHODS: The case group comprised of 133 children born with cleft lip and/or palate, and the control was 133 non-cleft children born full-term. Data was collected including age, gender, origin and risk factors for cleft lip and palate from patients' files, interviewing supervising doctors, and the patient...
September 2021: Heliyon
https://read.qxmd.com/read/34290122/paper-thin-roof-submucosal-cleft-palate-with-rhinolalia-aperta
#11
JOURNAL ARTICLE
Geng Ju Tuang, Zainal Azmi Zainal Abidin
No abstract text is available yet for this article.
July 21, 2021: Postgraduate Medical Journal
https://read.qxmd.com/read/33996804/the-chromatin-regulator-ankrd11-controls-palate-and-cranial-bone-development
#12
JOURNAL ARTICLE
Daniela Marta Roth, Pranidhi Baddam, Haiming Lin, Marta Vidal-García, Jose David Aponte, Sarah-Thea De Souza, Devyn Godziuk, Adrianne Eve Scovil Watson, Tim Footz, Nathan F Schachter, Sean E Egan, Benedikt Hallgrímsson, Daniel Graf, Anastassia Voronova
Epigenetic and chromatin regulation of craniofacial development remains poorly understood. Ankyrin Repeat Domain 11 ( ANKRD11 ) is a chromatin regulator that has previously been shown to control neural stem cell fates via modulation of histone acetylation. ANKRD11 gene variants, or microdeletions of the 16q24.3 chromosomal region encompassing the ANKRD11 gene, cause KBG syndrome, a rare autosomal dominant congenital disorder with variable neurodevelopmental and craniofacial involvement. Craniofacial abnormalities include a distinct facial gestalt, delayed bone age, tooth abnormalities, delayed fontanelle closure, and frequently cleft or submucosal palate...
2021: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/33971761/audiologic-and-otologic-clinical-manifestations-of-loeys-dietz-syndrome-a-heritable-connective-tissue-disorder
#13
JOURNAL ARTICLE
Jun W Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C Brewer, Hung Jeffrey Kim
OBJECTIVE: Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF-ß signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study describes the audiologic, otologic, and craniofacial manifestations of LDS. STUDY DESIGN: Consecutive cross-sectional study. SETTING: Tertiary medical research institute. METHODS: Audiologic and clinical evaluations were conducted among 36 patients (mean ± SD age, 24 ± 17 years; 54% female) with genetically confirmed LDS...
May 11, 2021: Otolaryngology—Head and Neck Surgery
https://read.qxmd.com/read/33680884/exploring-the-genetic-diversity-of-isolated-hypogonadotropic-hypogonadism-and-its-phenotypic-spectrum-a-case-series
#14
JOURNAL ARTICLE
Vijay Sheker Reddy Danda, Srinivas Rao Paidipelly, Madhavi Verepula, Piyush Lodha, Krishna Reddy Thaduri, Chaitanya Konda, Apsia Ruhi
Background: Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder being classified as Kallmann syndrome (KS). The present study was conducted to study the genotype and relative proportion of different genetic mutations in IHH and to assess its correlation with phenotype. Methods: Eleven consecutive subjects presenting to the Department of Endocrinology were retrospectively analyzed during May 2017 to December 2018 with IHH. Phenotypic features and hormonal studies were analyzed along with clinical exome by targeted gene sequencing (Next generation sequencing)...
January 2021: Journal of Reproduction & Infertility
https://read.qxmd.com/read/33610491/primary-cleft-palate-repair-among-older-age-children-and-adolescents-in-the-united-states
#15
JOURNAL ARTICLE
Connor J Peck, Arvind U Gowda, Sumun Khetpal, Joseph Lopez, Blake N Shultz, Yassmin Parsaei, Robin T Wu, Derek M Steinbacher
PURPOSE: Older age cleft palate (CP) repair in international settings has been associated with increased surgical morbidity. This study assesses the prevalence and risks associated with late-age CP repair (age > 5 years) in the United States. METHODS: Primary CP repair patients less than the age of 18 years were identified in the National Surgical Quality Improvement pediatric database from 2012 to 2018. Total postoperative complications, readmissions, reoperations, duration of surgery, and length of stay were recorded...
January 25, 2021: Journal of Oral and Maxillofacial Surgery
https://read.qxmd.com/read/33581960/evaluation-of-fistula-rates-in-three-cleft-palate-techniques-without-relaxing-incisions
#16
JOURNAL ARTICLE
Yuanyuan Li, Min Wu, Chao Yang, Chialing Tsauo, Chen Li, Renkai Liu, Qian Zheng, Bing Shi, David W Low, Cheng-Hao Li
The aim of the present study was to investigate the incidence of postoperative fistula formation from a hybrid cleft palate repair compared to that from two well-established techniques. We performed a modified technique, Sommerlad-Furlow (SF), which combined the repositioning of the levator veli palatini muscles as described by Sommerlad with the double opposing Z-plasty of Furlow to lengthen the soft palate. A retrospective cohort study was conducted to evaluate patients who underwent cleft palate repair utilizing SF, Sommerlad, or Furlow techniques with the incidence of palatal fistula as the target endpoint...
February 6, 2021: Journal of Cranio-maxillo-facial Surgery
https://read.qxmd.com/read/33267609/incidence-of-symptomatic-submucous-cleft-palate-in-the-netherlands-a-retrospective-cohort-study-over-a-period-of-22-years
#17
JOURNAL ARTICLE
Johannes A Smit, Puck P Mulder, Feike de Graaf, Bernadette S de Bakker, Corstiaan C Breugem
OBJECTIVE: To analyze the incidence of submucous cleft palate (SMCP) in a large national database and raise awareness among referring providers: pediatricians, speech pathologists, and dentists to minimize delay in diagnosis. DESIGN: Retrospective cohort study. SETTING: Tertiary setting. PATIENTS: Patients were extracted from the "Dutch Association for Cleft and Craniofacial Anomalies" database. A total of 6916 patients were included from 1997 until 2018 and divided into 2 groups (ie, SMCP versus cleft palate [CP])...
December 3, 2020: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/32890936/magnetic-resonance-angiography-mra-in-preoperative-planning-for-patients-with-22q11-2-deletion-syndrome-undergoing-craniofacial-and-otorhinolaryngologic-procedures
#18
JOURNAL ARTICLE
Rotem Kimia, Lisa Elden, Julia Dailey, Mallika Kodavatiganti, T Blaine Crowley, Daniel E McGinn, Alice Bailey, Elaine H Zackai, Donna M McDonald-McGinn, Oksana A Jackson
INTRODUCTION: Patients with 22q11.2 deletion syndrome (22q11.2DS) have a variety of anatomic anomalies. For surgeons operating in proximity to the retropharynx, the most pertinent is medial displacement of the internal carotid arteries. The purpose of this study is to describe the preoperative use of magnetic resonance angiography (MRA) in surgical planning and update the incidence rate of medial carotid displacement in patients with 22q11.2DS. METHODS: This is a retrospective cohort study of patients with a confirmed diagnosis of 22q11...
July 20, 2020: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/32573252/oronasal-fistula-risk-after-palate-repair
#19
JOURNAL ARTICLE
Sarah Hatch Pollard, Jonathan R Skirko, Dallin Dance, Hans Reinemer, Duane Yamashiro, Natalee F Lyon, Dave S Collingridge
OBJECTIVE: To assess risk factors for oronasal fistula, including 2-stage palate repair. DESIGN: Retrospective analysis. SETTING: Tertiary children's hospital. PATIENTS: Patients with non-submucosal cleft palate whose entire cleft repair was completed at the study hospital between 2005 and 2013 with postsurgical follow-up. INTERVENTIONS: Hierarchical binary logistic regression assessed predictive value of variables for fistula...
June 23, 2020: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/32536504/surgical-management-in-a-severe-osa-patient-diagnosed-with-stickler-syndrome
#20
JOURNAL ARTICLE
So Young Jeon, Oh Eun Kwon, Jin Woo Jang, Sang Yoon Kang, Jin-Young Min, Sung Wan Kim
Stickler syndrome is a genetic disorder of connective tissue. One of the major symptoms associated with this disorder is an oro-facial malformation, which may cause a submucous cleft or a complete cleft of the hard palate. A 32-year-old man diagnosed with Stickler syndrome and a submucosal cleft palate (SMCP) visited our hospital with a chief complaint of excessive daytime sleepiness. The patient was diagnosed with severe obstructive sleep apnea (OSA), and administration of a polysomnography test revealed an apnea-hypopnea index (AHI) of 30...
June 11, 2020: Auris, Nasus, Larynx
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