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https://www.readbyqxmd.com/read/27925479/psychological-adjustment-to-craniofacial-conditions-excluding-oral-clefts-a-review-of-the-literature
#1
Kristin Billaud Feragen, Nicola Marie Stock
OBJECTIVE: A congenital craniofacial anomaly (CFA) is expected to impact upon several domains of psychological, emotional and social functioning, yet no recent reviews have comprehensively summarised the available literature. Further, existing reviews tend to draw upon literature in the field of cleft lip and palate, and do not give substantive attention to other types of CFAs. DESIGN: A review of 41 papers published between January 2000 and March 2016 pertaining to psychological adjustment to CFAs...
December 7, 2016: Psychology & Health
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#2
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27924390/technical-standardization-of-laparoscopic-repair-of-morgagni-diaphragmatic-hernia-in-children-results-of-a-multicentric-survey-on-43-patients
#3
Ciro Esposito, Maria Escolino, Francois Varlet, Amulya Saxena, Sabine Irtan, Paul Philippe, Alessandro Settimi, Mariapina Cerulo, Holger Till, Francois Becmeur, George W Holcomb
BACKGROUND: This study aimed to standardize the surgical correction technique of congenital Morgagni diaphragmatic hernia (CMDH), analyzing the results of an international multicentric survey. METHODS: The medical records of 43 patients (29 boys, 14 girls) who underwent laparoscopic repair of CMDH in 8 pediatric surgery units in a 5-year period were retrospectively reviewed. Their average age was 3.3 years. Ten patients (23.2%) presented associated malformations: 9 Down syndrome (20...
December 6, 2016: Surgical Endoscopy
https://www.readbyqxmd.com/read/27923600/determinants-of-orofacial-clefting-ii-effects-of-5-aza-2-deoxycytidine-on-gene-methylation-during-development-of-the-first-branchial-arch
#4
Ratnam S Seelan, Partha Mukhopadhyay, Dennis R Warner, Irina A Smolenkova, M Michele Pisano, Robert M Greene
Defects in development of the secondary palate, which arise from the embryonic first branchial arch (1-BA), can cause cleft palate (CP). Administration of 5-Aza-2'-deoxycytidine (AzaD), a demethylating agent, to pregnant mice on gestational day 9.5 resulted in complete penetrance of CP in fetuses. Several genes critical for normal palatogenesis were found to be upregulated in 1-BA, 12hours after AzaD exposure. MethylCap-Seq (MCS) analysis identified several differentially methylated regions (DMRs) in DNA extracted from AzaD-exposed 1-BAs...
December 3, 2016: Reproductive Toxicology
https://www.readbyqxmd.com/read/27923221/influence-of-voice-focus-on-oral-nasal-balance-in-speakers-of-brazilian-portuguese
#5
Gillian de Boer, Viviane Cristina de Castro Marino, Larissa Cristina Berti, Eliana Maria Gradim Fabron, Tim Bressmann
OBJECTIVES: This study investigates whether a change in speaking voice focus affects the oral-nasal balance. The investigation was undertaken with different phonetic materials in speakers of Brazilian Portuguese, which features phonological and phonetic vowel nasalization. METHODS: Ten females read oral, balanced oral-nasal, and nasal loaded sentences in their normal voice, and with a backward focus and a forward focus. Nasalance scores were collected with a Nasometer 6400...
December 7, 2016: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/27922562/operation-smile-and-the-guwahati-comprehensive-cleft-care-center-multidisciplinary-global-activism-in-plastic-surgery
#6
Chad Allen Purnell
Participation in a medical mission in an underserved area is both a challenging and deeply satisfying experience. The global burden of cleft lip and palate is significant, and as plastic surgery providers we are all empowered to help these patients. Surgery for cleft lip and palate is life changing for patients, and the privilege of participating in a mission can be life altering for the providers as well. The Comprehensive Cleft Care Center in Guwahati, India, is a prime example of multidisciplinary collaboration resulting in excellent care in the developing world...
October 2016: Plastic Surgical Nursing
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#7
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#8
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27917906/novel-human-mutation-and-crispr-cas-genome-edited-mice-reveal-the-importance-of-c-terminal-domain-of-msx1-in-tooth-and-palate-development
#9
Silvia Naomi Mitsui, Akihiro Yasue, Kiyoshi Masuda, Takuya Naruto, Yoshiyuki Minegishi, Seiichi Oyadomari, Sumihare Noji, Issei Imoto, Eiji Tanaka
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27915011/determinants-of-orofacial-clefting-i-effects-of-5-aza-2-deoxycytidine-on-cellular-processes-and-gene-expression-during-development-of-the-first-branchial-arch
#10
Partha Mukhopadhyay, Ratnam S Seelan, Francine Rezzoug, Dennis R Warner, Irina A Smolenkova, Guy Brock, M Michele Pisano, Robert M Greene
In this study, we identify gene targets and cellular events mediating the teratogenic action(s) of 5-Aza-2'-deoxycytidine (AzaD), an inhibitor of DNA methylation, on secondary palate development. Exposure of pregnant mice (on gestation day (GD) 9.5) to AzaD for 12hrs resulted in the complete penetrance of cleft palate (CP) in fetuses. Analysis of cells of the embryonic first branchial arch (1-BA), in fetuses exposed to AzaD, revealed: 1) significant alteration in expression of genes encoding several morphogenetic factors, cell cycle inhibitors and regulators of apoptosis; 2) a decrease in cell proliferation; and, 3) an increase in apoptosis...
November 30, 2016: Reproductive Toxicology
https://www.readbyqxmd.com/read/27914422/modeling-of-oropharyngeal-articulatory-adaptation-to-compensate-for-the-acoustic-effects-of-nasalization
#11
Panying Rong, David P Kuehn, Ryan K Shosted
Hypernasality is one of the most detrimental speech disturbances that lead to declines of speech intelligibility. Velopharyngeal inadequacy, which is associated with anatomic defects such as cleft palate or neuromuscular disorders that affect velopharygneal function, is the primary cause of hypernasality. A simulation study by Rong and Kuehn [J. Speech Lang. Hear. Res. 55(5), 1438-1448 (2012)] demonstrated that properly adjusted oropharyngeal articulation can reduce nasality for vowels synthesized with an articulatory model [Mermelstein, J...
September 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27906082/secondary-correction-of-nasal-deformities-in-cleft-lip-and-palate-patients-surgical-technique-and-outcome-evaluation
#12
Gabor Vass, Gabor Mohos, Zsofia Bere, Laszlo Ivan, Janos Varga, Jozsef Piffko, Laszlo Rovo
BACKGROUND: Nasal deformity associated with cleft lip and palate is a highly challenging reconstructive problem in rhinoplasty. In the literature, several operative solutions and evaluation methods have been described, however these do not offer a standard procedure for the surgeon. Our aim was to standardize our surgical technique-as much as the uniqueness of each case allowed it-based on the most frequent deformities we had faced; and to evaluate our results via a postoperative patient satisfaction questionnaire...
December 1, 2016: Head & Face Medicine
https://www.readbyqxmd.com/read/27905647/-cleft-lip-palate-and-flour-fortification-with-folic-acid-in-chile
#13
Angélica Paulos, Paulina Pino, Gabriel Cavada, Carolina Lagos, Valentina Broussain, Andrea Hasbún
BACKGROUND: The effect of food fortification with folic acid on the incidence of lip-palate fissures (FLP) is under discussion. AIM: To calculate the rate of hospital discharges due to cleft lip and palate (CLP) and explore whether they decreased after the start of folic acid fortification in Chile. MATERIAL AND METHODS: The hospital discharge databases published by the Chilean Ministry of Health were analyzed. The trends of discharge rates due to CLP of children of less than one year of life (ICD-10 Q350-379 code) and live births (lb) were calculated from 1986 to 2012...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27902848/topiramate-in-migraine-prevention-a-2016-perspective
#14
Stephen D Silberstein
BACKGROUND: In evidence-based guidelines published in 2000, topiramate was a third-tier migraine preventive with no scientific evidence of efficacy; recommendation for its use reflected consensus opinion and clinical experience. Its neurostabilizing activity, coupled with its favorable weight profile, made topiramate an attractive alternative to other migraine preventives that caused weight gain. When guidelines for migraine prevention in episodic migraine were published in 2012, topiramate was included as a first-line option based on double-blind, randomized controlled trials involving nearly 3000 patients...
November 30, 2016: Headache
https://www.readbyqxmd.com/read/27900280/giant-lingual-teratoma-with-cleft-palate-in-male-new-born
#15
J D Rawat, Piyush Kumar, Sudhir Singh, Hemlata
No abstract text is available yet for this article.
November 2016: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/27897086/pattern-of-clefts-and-dental-anomalies-in-six-year-old-children-a-retrospective-observational-study-in-western-norway
#16
Paul Sæle, Eirik Østhus, Sondre Ådalen, Elwalid F Nasir, Manal Mustafa
OBJECTIVES: Clefts of the lip and/or palate (CL/P) are the most common congenital disorders of the head and neck. In Norway, the incidence is 1.9/1000 live births. The aim of this study was to investigate the frequency and distribution of various types of clefts and dental anomalies in patients treated by the cleft lip and palate (CLP) team in Bergen, Norway. MATERIAL AND METHODS: The material comprised the records of patients 6 years of age, examined by the CLP team in Bergen from spring 1993 to autumn 2012, incomplete records were excluded...
November 29, 2016: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/27896214/a-case-of-severe-mandibular-retrognathism-with-bilateral-condylar-deformities-treated-with-le-fort-i-osteotomy-and-two-advancement-genioplasty-procedures
#17
Masahiro Nakamura, Takeshi Yanagita, Tatsushi Matsumura, Takashi Yamashiro, Seiji Iida, Hiroshi Kamioka
We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion...
November 2016: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/27896192/acquired-palatal-fistula-in-patients-with-submucous-and-incomplete-cleft-palate-before-surgery
#18
Ie Hyon Park, Jee Hyeok Chung, Tae Hyun Choi, Jihyeon Han, Suk Wha Kim
It is uncommon for a palatal fistula to be detected in individuals who have not undergone surgery, and only sporadic cases have been reported. It is even more difficult to find cases of acquired palatal fistula in patients with submucous or incomplete cleft palate. Herein, we present 2 rare cases of this phenomenon. Case 1 was a patient with submucous cleft palate who acquired a palatal fistula after suffering from oral candidiasis at the age of 5 months. Case 2 was a patient with incomplete cleft palate who spontaneously, without trauma or infection, presented with a palatal fistula at the age of 9 months...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#19
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#20
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
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