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https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#1
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28439174/advantage-of-kilner-s-modification-of-mouth-gag-in-reference-to-simple-technique-overcoming-a-persistent-problem-in-cleft-palate-repair
#2
P Varun Menon
No abstract text is available yet for this article.
June 2017: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#3
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28435370/facial-profile-and-maxillary-arch-dimensions-in-unilateral-cleft-lip-and-palate-children-in-the-mixed-dentition-stage
#4
Vellore Kannan Gopinath, Ab Rani Samsudin, Siti Noor Fazliah Mohd Noor, Hady Youssef Mohamed Sharab
OBJECTIVES: The aim of this study was to evaluate the vertical and sagittal facial profile and maxillary arch width, depth, and length of patients with unilateral cleft lip and palate (UCLP) and to compare them with healthy noncleft children in the mixed dentition stage (7-13 years). MATERIALS AND METHODS: This study is conducted at Hospital Universiti Sains Malaysia. UCLP group comprised 48 patients with nonsyndromic UCLP who have had the lip and palate repaired, whereas the control group comprised 48 healthy noncleft cases...
January 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28434827/comprehensive-and-reliable-classification-system-for-primary-diagnosis-of-cleft-lip-and-palate
#5
Ahmed Elsherbiny, Ahmed S Mazeed
OBJECTIVE: Due to the lack of a universally accepted classification system, we are aiming to introduce a modified comprehensive, precise and relatively simple classification system for primary diagnosis of cleft lip and palate. METHODS: The proposed classification is based on the Kernahan's striped Y diagram with more details in cleft extent and with the addition of severity scores to each cleft component. Clear definitions of cleft extents and severity degrees were described based on 400 consecutive primary cases...
March 27, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#6
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28431235/improving-surgeons-comfort-with-prismatic-glasses-during-cleft-palate-surgery-preliminary-findings
#7
Hai Kuang, Guosheng Chen, Qitao Wen, Shuai Li, Lei Che, Feixin Liang
PURPOSE: We aimed to observe the effect of prismatic glasses on improving surgeons' comfort during cleft palate surgery. MATERIALS AND METHODS: A within-subjects design was used. We included 3 oral-maxillofacial surgeons and 6 patients with complete cleft palate in the study. One group of cleft palate patients (3 complete cleft palates) was allocated to each of the 3 surgeons not wearing prismatic glasses, and another similar group of cleft palate patients was allocated to the same 3 surgeons wearing prismatic glasses...
March 27, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28430890/acceptability-comparison-between-hawley-retainers-and-vacuum-formed-retainers-in-orthodontic-adult-patients-a-single-centre-randomized-controlled-trial
#8
Mohammed Saleh, Mohammad Y Hajeer, Dieter Muessig
Background: Hawley retainers (HRs) and vacuum formed retainers (VFRs) are the most commonly used removable retainers in the orthodontic practice. Patients' cooperation in wearing these appliances is affected by the levels of discomfort and oral impairment. The evidence regarding their acceptably among orthodontic patients is limited. Aims: To compare the acceptability of HRs and VFRs over a 6-month period in a group of fixed orthodontic patients. Trial Design: Two-arm parallel-group randomized controlled trial...
April 19, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28427835/maxillofacial-growth-and-speech-outcome-after-one-stage-or-two-stage-palatoplasty-in-unilateral-cleft-lip-and-palate-a-systematic-review
#9
Rajgopal R Reddy, Srinivas Gosla Reddy, Anitha Vaidhyanathan, Stefaan J Bergé, Anne Marie Kuijpers-Jagtman
BACKGROUND: The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. MATERIAL AND METHODS: An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015...
March 22, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28425186/association-studies-of-low-frequency-coding-variants-in-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#10
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Frederic W B Deleyiannis, Leigh L Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424158/generation-of-a-multipurpose-prdm16-allele-by-targeted-trapping
#11
A Strassman, F Schnütgen, Q Dai, J C Jones, A C Gomez, L Pitstick, N E Holton, R Moskal, E R Leslie, H von Melchner, D R Beier, B C Bjork
Gene trap mutagenesis is a powerful tool to create loss-of-function mutations in mice and other model organisms. Modifications of traditional gene trap cassettes, including addition of conditional features in the form of Flip-excision (FlEx) arrays enabling directional gene trap cassette inversions by Cre and Flpe site-specific recombinases, greatly enhanced their experimental potential. By taking advantage of these conditional gene trap cassettes, we developed a generic strategy for generating conditional mutations and validated this strategy in mice carrying a multipurpose allele of the Prdm16 transcription factor gene...
April 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28422614/electronic-follow-up-of-developing-world-cleft-patients-a-digital-dream
#12
Tom W M Walker, Ambika Chadha, William Rodgers, Caroline Mills, Peter Ayliffe
OBJECTIVE: To identify potential access to telemedicine follow-up of children with clefts operated on a humanitarian mission. METHODS: A cross-sectional study of parents of children presenting to a humanitarian cleft lip and palate mission in a Provincial Hospital in the Philippines. A purpose designed questionnaire was used to assess access to electronic and digital resources that could be used to aid follow-up. Forty-five (N = 45) parents of children having primary cleft lip and or palate surgery participated...
April 19, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28422603/factors-responsible-for-unfavorable-dental-arch-relationship-in-non-syndromic-unilateral-cleft-lip-and-palate-children
#13
Sanjida Haque, Mohammad Khursheed Alam, Mohd Fadhli Khamis
OBJECTIVES: Multiple factors are whispered to be crucial cause of unfavourable dental arch relationship in cleft lip and palate (CLP).This study aims to evaluate the dental arch relationship of Bangladeshi children with non syndromic unilateral cleft lip and palate (UCLP) following cheiloplasty and palatoplasty. Also to explore the various congenital (UCLP type, UCLP side, family history of cleft, family history of class III) and environmental (cheiloplasty, palatoplasty) factors that affects dental arch relationship of UCLP patients...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28422192/polymorphisms-at-1q32-8q24-and-17q22-loci-are-associated-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate-risk-in-the-slovak-population
#14
Jan Salagovic, Lucia Klimcakova, Marianna Zabavnikova, Jana Behunova, Terezia Hudakova, Jozef Fedeles, Agata Molnarova, Ludmila Podracka
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population...
March 30, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28420997/micrornas-in-palatogenesis-and-cleft-palate
#15
REVIEW
Christian Schoen, Armaz Aschrafi, Michelle Thonissen, Geert Poelmans, Johannes W Von den Hoff, Carine E L Carels
Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their corresponding DNA motifs. Even minor perturbations of this network may cause cleft palate, the most common congenital craniofacial defect in humans. MicroRNAs (miRNAs), a class of small regulatory non-coding RNAs, have elicited strong interest as key regulators of embryological development, and as etiological factors in disease. MiRNAs function as post-transcriptional repressors of gene expression and are therefore able to fine-tune gene regulatory networks...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28417474/first-trimester-sonographic-evaluation-of-palatine-clefts-a-novel-diagnostic-approach
#16
Selvaraj Ravi Lakshmy, Selvaraj Deepa, Nity Rose, Senthilkumar Mookan, Joy Agnees
OBJECTIVES: Sonographic evaluation of the palate is a difficult task, and most palatine clefts are diagnosed in the neonatal period because of the limitations of 2-dimensional (2D) sonography. The objective is to describe a sonographic technique based on 2D markers for screening of palatine clefts during the nuchal translucency scan and to assess the ability of 3-dimensional (3D) sonography in imaging the normal and abnormal palate. METHODS: A total of 2014 women who enrolled for first-trimester screening were included in this prospective study...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28416097/long-term-effect-of-presurgical-nasoalveolar-molding-on-growth-of-maxillary-arch-in-unilateral-cleft-lip-and-palate-randomized-controlled-trial
#17
V Shetty, R K Agrawal, H F Sailer
The objective of this study was to investigate the long-term effect of presurgical nasoalveolar molding (PNAM) on growth of the maxillary arch through early childhood until 6 years of age in complete unilateral cleft lip and palate (UCLP) patients presenting for PNAM at different ages. Complete UCLP patients who were treated at our centre were divided into two groups. The study group underwent PNAM and was further subdivided into three subgroups (PNAM initiated within 1 month, between 1 and 6 months, and between 6 and 12 months of age in subgroup I, II, and III, respectively)...
April 13, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28414872/a-scoping-review-of-outcomes-related-to-orthodontic-treatment-measured-in-cleft-lip-and-palate
#18
REVIEW
A Tsichlaki, K O'Brien, A Johal, P S Fleming
The aim of this study was to identify and summarize the outcomes measured in orthodontic studies of children with cleft lip and/or palate. The objectives were to categorize the outcomes into pre-determined domains and to explore whether any domains were under-represented. Electronic databases and grey literature were searched until December 2016 to identify all studies of orthodontic treatment interventions in children and adolescents with cleft lip and palate. Abstracts and subsequently eligible full-text articles were screened independently and in duplicate by two reviewers...
May 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28413596/non-syndromic-multiple-supernumerary-premolars-clinicoradiographic-report-of-five-cases
#19
Renu Tanwar, Vipul Jaitly, Aadya Sharma, Rashmi Heralgi, Munish Ghangas, Ankur Bhagat
Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner's syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28412787/-progress-in-studies-on-the-genetic-risk-factors-for-nonsyndromic-cleft-lip-or-palate-in-china
#20
Y Q Huang
Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus...
April 9, 2017: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
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