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https://www.readbyqxmd.com/read/29356306/evidence-of-interaction-between-genes-in-the-folate-homocysteine-metabolic-pathway-in-controlling-risk-of-nonsyndromic-oral-cleft
#1
Ping Wang, Tao Wu, Holger Schwender, Hong Wang, Bing Shi, Zhuqing Wang, Yuan Yuan, Dongjing Liu, Mengying Wang, Jing Li, Zhibo Zhou, Hongping Zhu, Terri H Beaty
OBJECTIVE: Little consistent evidence is available for the association between the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and any of the individual genes in the folate/homocysteine metabolic pathway. We investigated the genes in the folate pathway to further clarify its potential influence on the risk of NSCL/P considering gene-gene (G×G) interaction. SUBJECTS AND METHODS: We selected markers in 18 genes from the pathway and applied the Cordell's method to test for G×G interaction using 1,908 NSCL/P case-parent trios ascertained in an international consortium where a genome-wide association study (GWAS) of oral clefts was conducted...
January 22, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29356217/cleft-nipple-a-rare-congenital-breast-anomaly
#2
Hande Koksal
No abstract text is available yet for this article.
January 22, 2018: Breast Journal
https://www.readbyqxmd.com/read/29356097/association-of-single-nucleotide-polymorphisms-in-wnt-genes-with-the-risk-of-non-syndromic-cleft-lip-with-or-without-cleft-palate
#3
Houshang Rafighdoost, Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari
Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors have been indicated to be related with susceptibility to NSCL/P. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of NSCL/P. In the present study we aimed to inspect the relationship between WNT3 (rs3809857, rs9890413), WNT3A (rs752107, rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and NSCL/P in an Iranian population...
January 22, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#4
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29353636/computer-assisted-surgery-in-facial-bipartition-surgery
#5
Matthias Schlund, Arnaud Paré, Aline Joly, Boris Laure
PURPOSE: Frontonasal dysplasia or median cleft syndrome is a rare condition often associated with transverse maxillary deficiency for which facial bipartition is the proper surgical treatment. This technical note describes the use and efficacy of 3-dimensional virtual surgical planning and patient-specific cutting guides in facial bipartition. MATERIALS AND METHODS: An 11-year-old boy presented with frontonasal dysplasia and a midline facial cleft. RESULTS: Computed tomographic (CT) scan visualized an intercanthal distance of 40 mm and a maxillary width at the second molar level of 46...
December 28, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29352490/oral-lichenoid-reaction-showing-multiple-ulcers-associated-with-anti-programmed-death-cell-receptor-1-treatment-a-report-of-two-cases-and-published-work-review
#6
Koya Obara, Mamiko Masuzawa, Yasuyuki Amoh
Anti-programmed cell death receptor-1 (PD-1) antibodies represent an effective treatment opinion for advanced melanoma and non-small-cell lung cancer, as well as other cancerous entities. Immune checkpoint inhibitors such as anti-PD-1 antibody result in a unique side-effect profile, commonly described as immune-related adverse events (irAE). These irAE affect the skin, gastrointestinal tract, liver, endocrine system and other organ systems. We report two cases of oral lichenoid reaction showing multiple ulcers associated with nivolumab treatment...
January 20, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29352106/cholesterol-binding-to-a-conserved-site-modulates-conformation-pharmacology-and-transport-kinetics-of-the-human-serotonin-transporter
#7
Louise Laursen, Kasper Severinsen, Kristina Birch Kristensen, Xavier Periole, Malene Overby, Heidi Kaastrup Müller, Birgit Schiøtt, Steffen Sinning
The serotonin transporter (SERT) is important for reuptake of the neurotransmitter serotonin from the synaptic cleft and is also the target of most antidepressants. It has previously been shown that cholesterol in the membrane bilayer affects the conformation of the serotonin transporter. Although recent crystal structures have identified several potential cholesterol binding sites it is unclear whether any of these potential cholesterol sites are occupieed by cholesterol and functionally relevant. In the present study we focus on the conserved Cholesterol Site 1 (CHOL1) located in a hydrophobic groove between TM1a, TM5 and TM7...
January 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29352080/functional-analysis-of-cancer-associated-dna-polymerase-%C3%AE%C2%B5-variants-in-saccharomyces-cerevisiae
#8
Stephanie R Barbari, Daniel P Kane, Elizabeth A Moore, Polina V Shcherbakova
DNA replication fidelity relies on base selectivity of the replicative DNA polymerases, exonucleolytic proofreading, and post-replicative DNA mismatch repair (MMR). Ultramutated human cancers without MMR defects carry alterations in the exonuclease domain of DNA polymerase ε (Polε). They have been hypothesized to result from defective proofreading. However, modeling in yeast of the most common variant, Polε-P286R, produced an unexpectedly strong mutator effect that exceeded the effect of proofreading deficiency by two orders of magnitude and indicated the involvement of other infidelity factors...
January 19, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29351991/differing-roles-of-cd1d2-and-cd1d1-proteins-in-type-i-natural-killer-t-cell-development-and-function
#9
Srinivasan Sundararaj, Jingjing Zhang, S Harsha Krovi, Romain Bedel, Kathryn D Tuttle, Natacha Veerapen, Gurdyal S Besra, Yogesh Khandokar, T Praveena, Jérôme Le Nours, Jennifer L Matsuda, Jamie Rossjohn, Laurent Gapin
MHC class I-like CD1 molecules have evolved to present lipid-based antigens to T cells. Differences in the antigen-binding clefts of the CD1 family members determine the conformation and size of the lipids that are presented, although the factors that shape CD1 diversity remain unclear. In mice, two homologous genes, CD1D1 and CD1D2, encode the CD1d protein, which is essential to the development and function of natural killer T (NKT) cells. However, it remains unclear whether both CD1d isoforms are equivalent in their antigen presentation capacity and functions...
January 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29351184/cleft-palate-repair-does-hospital-case-volume-impact-outcomes-or-cost
#10
Ari M Wes, Daniel Mazzaferro, Sanjay Naran, Scott P Bartlett, Jesse A Taylor
BACKGROUND: How hospital case-volume affects operative outcomes and cost continues to grow in importance. The purpose of this study is to examine the relationship of case volume with operative outcomes and cost in cleft palate repair. METHODS: Subjects undergoing cleft palate repair between 2004 and 2015 were identified in the Pediatric Health Information System (PHIS). Outcomes were compared between two exposure groups, those undergoing treatment at a high-volume institution (>85th percentile; >60 cases per year), and those undergoing treatment at a low-volume institution...
January 12, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29351181/cleft-palate-repair-description-of-an-approach-its-evolution-and-analysis-of-post-operative-fistulas
#11
Raymond W Tse, Babette Siebold
BACKGROUND: Fistulas following cleft palate repair impair speech, health, and hygiene and occur in up to 35% cases. The purpose of this study was to (1) describe the evolution of a surgical approach to cleft palate repair; (2) assess the rates, causes, and predictive factors of fistulas; (3) assess the temporal association of modifications to fistula rates during six years of a single surgeon experience. METHODS: Consecutive patients (N=146) undergoing cleft palate repair were included...
January 12, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29351180/one-stage-vs-two-stage-repair-of-asymmetric-bilateral-cleft-lip-a-20-year-retrospective-study-of-clinical-outcome
#12
KyungHoon Chung, Lun-Jou Lo
BACKGROUND: The one-stage or two-stage approaches have been a widely used technique for patients with an asymmetric bilateral cleft lip (ABCL). There is insufficient long-term outcome data between these two methods. The purpose of this retrospective study is to compare the clinical outcome over the last 20 years. METHODS: The senior author's database was searched for patients with ABCL from 1995 to 2015. Qualified patients were divided into two groups: one-stage vs...
January 12, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29351047/otologic-disease-following-palatoplasty-in-international-cleft-palate-cohort
#13
Jeff Markey, Rebecca Maine, Kimberly Daniels, Emily Yang Yu, George Gregory, William Hoffman, Jorge Palacios
OBJECTIVE: Study the prevalence of otologic disease in a pediatric post-palatoplasty population with no prior ear tube placement in resource-deprived countries and assess patient characteristics associated with these abnormal results. DESIGN: Retrospective data review. PARTICIPANTS: Ecuadorian and Chinese children identified during humanitarian cleft lip and palate repair trips with cleft palates undergoing palatoplasty from 2007 to 2010. INTERVENTIONS: Tympanometry and otoacoustic emission (OAE) testing performed following palatoplasty...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351045/gender-views-and-relationships-in-families-of-children-with-craniofacial-differences
#14
Danielle N Shapiro, Jennifer Waljee, Steven Buchman, Kavitha Ranganathan, Seth Warshcausky
OBJECTIVE: Gender values and beliefs are known to influence family functioning. The aim of the current study was to describe the association between views about gender and family functioning within families with a child with a craniofacial difference (CFD). DESIGN: Participants included 74 dyads composed of children (8-18 years old) with CFD (n = 36 female), including cleft lip/palate, and a parent (n = 56 female). Children and caregivers both completed the activities subscale of the Occupations, Activities, and Traits-Attitudes Measure (C/OAT-AM)...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351043/congenital-midline-upper-lip-sinuses-3-rare-cases
#15
Jean-Daniel Kün-Darbois, Anne Chatellier, Arnaud Paré, Aude Caillot, Béatrice Ambroise, Hervé Bénateau, Alexis Veyssière
Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351042/secondary-alveolar-bone-grafting-in-patients-born-with-unilateral-cleft-lip-and-palate-a-20-year-follow-up
#16
Fatemeh Jabbari, Laila Wiklander, Erika Reiser, Andreas Thor, Malin Hakelius, Daniel Nowinski
OBJECTIVE: To identify factors of oral health important for the final outcome, after secondary alveolar bone grafting in patients born with unilateral cleft lip and palate and compare occlusal radiographs with cone beam computed tomography (CBCT) in assessment of alveolar bone height. DESIGN: Observational follow-up study. SETTING: Cleft Lip and Palate Team, Craniofacial Center, Uppsala University Hospital, Sweden. PATIENTS: 40 nonsyndromic, Caucasian patients with unilateral complete cleft lip and palate...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351041/a-new-technique-in-alveolar-cleft-bone-grafting-for-dental-implant-placement-in-patients-with-cleft-lip-and-palate
#17
Vo Van Nhan, Le Van Son, Ta Anh Tuan, Nguyen Tai Son, Trinh Dinh Hai, Le Duc Lanh, Nguyen Manh Ha, Lam Dai Phong
OBJECTIVE: To evaluate 2 iliac corticocancellous-block grafting techniques for dental implant placement in residual alveolar clefts. DESIGN: Nonrandomized prospective clinical trial between March 2010 and December 2014. SETTING: National Hospital of Odonto-Stomatology, Hanoi, Vietnam. PARTICIPANTS: Thirty-two patients (23 female, 9 male; mean age, 21.28 years; range, 16-31 years) with unilateral complete alveolar cleft after reconstructive surgery for cleft lip and palate (CLP)...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351040/respiratory-polysomnographic-findings-in-patients-treated-primarily-for-unilateral-cleft-lip-and-palate
#18
Davi Sandes Sobral, Gustavo Juliane Faller, Marcus Vinícius Martins Collares
Cleft lip and palate (CLP) is the most common congenital craniofacial abnormality. Obstructive sleep apnea syndrome (OSAS) is a highly prevalent but underdiagnosed disease and is frequently associated with craniofacial anomalies. There are few studies describing the sleep breathing pattern of children with CLP. This study sought to characterize the respiratory profile of 23 children with unilateral cleft lip and palate, aged 7-12 years, who had undergone cleft lip and nasal repair at age 3-4 months and palatoplasty at 12-15 months, with a particular focus on evaluating the presence of OSAS in children with CLP...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351039/resorbable-plates-in-secondary-cleft-nasal-reconstruction
#19
Pey-Yi Lin, Anthony P Gibson, John F Teichgraeber, Matthew R Greives
OBJECTIVE: The authors report on the use and complications of alloplastic resorbable plates and compare their use to autologous cartilage grafts in secondary cleft nasal reconstruction. DESIGN: Institutional review board (IRB)-approved retrospective chart review. SETTING: Texas Cleft-Craniofacial Center at the McGovern Medical School at the University of Texas Health Sciences Center at Houston. PATIENTS: Patients with unilateral or bilateral cleft lip nasal deformity who have undergone secondary correction of their nasal deformity with at least 1-year follow-up...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351038/early-reading-abilities-of-bilingual-children-with-nonsyndromic-orofacial-clefts
#20
Michelle Heng Yue Cheong, Selena Ee-Li Young, Dawn Patricia Chuan Yu Young, Mary Lay Choo Lee, Susan Jane Rickard Liow
OBJECTIVE: To investigate the early reading abilities, and related cognitive-linguistic processes, in bilingual children with nonsyndromic cleft lip and/or palate (CL/P), and to identify deficits that might be amenable to intervention. DESIGN AND PARTICIPANTS: Bilingual participants with CL/P aged 5 to 6 years who were English-dominant ( n=17) or Mandarin-dominant ( n=18) were recruited using consecutive sampling from a national cleft treatment center and matched pairwise to a sample of typically developing (TD) children on language dominance, age, and socioeconomic status...
February 2018: Cleft Palate-craniofacial Journal
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